GEPHE SUMMARY Print
Gephebase Gene
MC1R
Entry Status
Published
GepheID
GP00001350
Main curator
Prigent
PHENOTYPIC CHANGE
Trait Category
Morphology
Trait
Coloration (coat)
Trait State in Taxon A
Reindeer ; wild type light ventral color
Trait State in Taxon B
Reindeer ; dark ventral color
Ancestral State
Taxon A
Taxonomic Status
Domesticated
Taxon A
Latin Name
Rangifer tarandus
Common Name
reindeer
Synonyms
reindeer; caribou; Rangifer tarandus Linnaeus
Rank
species
Lineage
Show more ... Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Cervidae; Odocoileinae; Rangifer
Parent
Rangifer () - (Rank: genus)
NCBI Taxonomy ID
9870
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Rangifer tarandus
Common Name
reindeer
Synonyms
reindeer; caribou; Rangifer tarandus Linnaeus
Rank
species
Lineage
Show more ... Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Cervidae; Odocoileinae; Rangifer
Parent
Rangifer () - (Rank: genus)
NCBI Taxonomy ID
9870
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Mc1r
Synonyms
e; Tob; Mcr1; Mshra; Msh-r
String
10090.ENSMUSP00000095929
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family.
GO - Molecular Function
GO:0004977 : melanocortin receptor activity ... show more
GO - Biological Process
GO:0045944 : positive regulation of transcription by RNA polymerase II ... show more
GO - Cellular Component
GO:0016021 : integral component of membrane ... show more
UniProtKB
Mus musculus
Q01727
GenebankID or UniProtKB
Mutation #1
Presumptive Null
No
Molecular Type
Coding
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.218T>C p.Met73Thr and c.839T>G p.Phe280Cys
Experimental Evidence
Candidate Gene
Taxon A Taxon B Position
Codon - - -
Amino-acid Met Thr 73
Main Reference
Two missense mutations in melanocortin 1 receptor (MC1R) are strongly associated with dark ventral coat color in reindeer (Rangifer tarandus). (2014)
Authors
Våge DI; Nieminen M; Anderson DG; Røed KH
Abstract
The protein-coding region of melanocortin 1 receptor (MC1R) was sequenced to identify potential variation affecting coat color in reindeer (Rangifer tarandus). A T→C sequence variation at nucleotide position 218 (c.218T>C) causing an amino acid (aa) change from methionine to threonine at aa position 73 (p.Met73Thr) was identified. In addition, a T→G sequence variation was found at nucleotide position 839 (c.839T>G), causing phenylalanine to be exchanged by cysteine at aa position 280 (p.Phe280Cys). The two sequence variants (c.218C and c.839G) were found to be closely associated with a darker belly coat compared with animals not having any of these two variants. The aa acid change p.Met73Thr affects the same position as p.Met73Lys previously reported to give constitutive activation of MC1R in black sheep (Ovis aries), whereas p.Phe280Cys is identical to one of two variants previously reported to be associated with dark coat color in Arctic fox (Alopex lagopus), supporting that the two variants found in reindeer are functional. The complete absence of Thr73 and Cys280 among the 51 wild reindeer analyzed provides some evidence that these variants are more common in the domestic herds.

© 2014 Stichting International Foundation for Animal Genetics.
Additional References
Mutation #2
Presumptive Null
No
Molecular Type
Coding
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.218T>C p.Met73Thr and c.839T>G p.Phe280Cys
Experimental Evidence
Candidate Gene
Taxon A Taxon B Position
Codon - - -
Amino-acid Phe Cys 280
Main Reference
Two missense mutations in melanocortin 1 receptor (MC1R) are strongly associated with dark ventral coat color in reindeer (Rangifer tarandus). (2014)
Authors
Våge DI; Nieminen M; Anderson DG; Røed KH
Abstract
The protein-coding region of melanocortin 1 receptor (MC1R) was sequenced to identify potential variation affecting coat color in reindeer (Rangifer tarandus). A T→C sequence variation at nucleotide position 218 (c.218T>C) causing an amino acid (aa) change from methionine to threonine at aa position 73 (p.Met73Thr) was identified. In addition, a T→G sequence variation was found at nucleotide position 839 (c.839T>G), causing phenylalanine to be exchanged by cysteine at aa position 280 (p.Phe280Cys). The two sequence variants (c.218C and c.839G) were found to be closely associated with a darker belly coat compared with animals not having any of these two variants. The aa acid change p.Met73Thr affects the same position as p.Met73Lys previously reported to give constitutive activation of MC1R in black sheep (Ovis aries), whereas p.Phe280Cys is identical to one of two variants previously reported to be associated with dark coat color in Arctic fox (Alopex lagopus), supporting that the two variants found in reindeer are functional. The complete absence of Thr73 and Cys280 among the 51 wild reindeer analyzed provides some evidence that these variants are more common in the domestic herds.

© 2014 Stichting International Foundation for Animal Genetics.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
p.Phe280Cys is also known in Arctic fox (Alopex lagopus) ; p.Met73 is also mutated in black sheep (Ovies aries)
YOUR FEEDBACK is welcome!