Incidental Mutation 'R4226:Mc1r'
ID 320046
Institutional Source Beutler Lab
Gene Symbol Mc1r
Ensembl Gene ENSMUSG00000074037
Gene Name melanocortin 1 receptor
Synonyms e, Mshra, extension recessive yellow, Mcr1
MMRRC Submission 041046-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4226 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 124133846-124137483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124134595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 116 (N116S)
Ref Sequence ENSEMBL: ENSMUSP00000095929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071134] [ENSMUST00000098324] [ENSMUST00000108840] [ENSMUST00000127664] [ENSMUST00000211932] [ENSMUST00000212470] [ENSMUST00000212743] [ENSMUST00000212571] [ENSMUST00000212880]
AlphaFold Q01727
Predicted Effect probably benign
Transcript: ENSMUST00000071134
SMART Domains Protein: ENSMUSP00000071134
Gene: ENSMUSG00000062380

DomainStartEndE-ValueType
Tubulin 47 244 8.63e-65 SMART
Tubulin_C 246 383 1.35e-48 SMART
low complexity region 427 446 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000098324
AA Change: N116S

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095929
Gene: ENSMUSG00000074037
AA Change: N116S

DomainStartEndE-ValueType
Pfam:7tm_4 43 188 1.3e-13 PFAM
Pfam:7TM_GPCR_Srsx 47 311 1e-7 PFAM
Pfam:7tm_1 53 296 2.7e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108840
SMART Domains Protein: ENSMUSP00000104468
Gene: ENSMUSG00000001472

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
low complexity region 34 55 N/A INTRINSIC
low complexity region 124 136 N/A INTRINSIC
Pfam:Tcf25 247 588 2.3e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195600
Predicted Effect probably benign
Transcript: ENSMUST00000211932
Predicted Effect probably benign
Transcript: ENSMUST00000212470
Predicted Effect probably benign
Transcript: ENSMUST00000212743
Predicted Effect probably benign
Transcript: ENSMUST00000212571
Predicted Effect probably benign
Transcript: ENSMUST00000212880
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant alleles at this locus extend or restrict the amount of black pigment (eumelanin) in hair with the opposite effect on yellow pigment (phaeomelanin). Some variants affect pain sensitivity. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted, knock-out(2) Spontaneous(6) Chemically induced(2)
Mutant alleles at this locus extend or restrict the amount of black pigment (eumelanin) in hair with the opposite effect on yellow pigment (phaeomelanin). Some variants affect pain sensitivity.
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik T A 5: 146,441,690 (GRCm39) V279E possibly damaging Het
Ache T C 5: 137,289,152 (GRCm39) V286A possibly damaging Het
Amotl1 T C 9: 14,504,974 (GRCm39) N115S probably benign Het
Aoah A T 13: 21,163,696 (GRCm39) Y333F possibly damaging Het
Ap4m1 A T 5: 138,171,079 (GRCm39) R74* probably null Het
Arhgef5 C T 6: 43,256,432 (GRCm39) A1180V probably damaging Het
Birc6 T C 17: 74,926,835 (GRCm39) probably null Het
Capn11 A G 17: 45,953,392 (GRCm39) probably null Het
Ccdc146 T A 5: 21,527,756 (GRCm39) I187L probably benign Het
Cfh A T 1: 140,036,664 (GRCm39) C360S probably damaging Het
Csmd1 T C 8: 16,050,490 (GRCm39) N2249D probably damaging Het
Cyb5r4 T G 9: 86,939,282 (GRCm39) I355S probably damaging Het
Dnm1l A T 16: 16,132,251 (GRCm39) H653Q possibly damaging Het
Frmd4a C T 2: 4,337,889 (GRCm39) R32C probably benign Het
Gm16503 C T 4: 147,625,725 (GRCm39) S73L unknown Het
Hnrnpll A T 17: 80,357,234 (GRCm39) probably null Het
Igf1r T A 7: 67,844,826 (GRCm39) Y866* probably null Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Micu2 T C 14: 58,169,742 (GRCm39) K203E possibly damaging Het
Mybpc1 C T 10: 88,409,387 (GRCm39) W36* probably null Het
Nsd1 C T 13: 55,408,214 (GRCm39) T1286I probably damaging Het
Or2a56 A G 6: 42,932,689 (GRCm39) T86A probably benign Het
Or51l14 T C 7: 103,100,784 (GRCm39) M80T probably benign Het
Pnpla3 C A 15: 84,063,391 (GRCm39) N256K probably benign Het
Polh A G 17: 46,483,520 (GRCm39) S582P probably benign Het
Rnaseh2a G A 8: 85,686,702 (GRCm39) T149I possibly damaging Het
Ryr1 A C 7: 28,761,576 (GRCm39) Y3190* probably null Het
Sec31b T A 19: 44,520,149 (GRCm39) M212L probably benign Het
Smc4 A G 3: 68,938,800 (GRCm39) E950G probably benign Het
Tlr1 A T 5: 65,083,060 (GRCm39) S506T probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem236 G T 2: 14,179,437 (GRCm39) E13* probably null Het
Tmprss6 C T 15: 78,330,899 (GRCm39) V43M probably damaging Het
Vegfc A G 8: 54,612,445 (GRCm39) Y156C probably damaging Het
Vmn1r39 T C 6: 66,781,703 (GRCm39) H205R possibly damaging Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zan T C 5: 137,422,240 (GRCm39) N2793D unknown Het
Other mutations in Mc1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Mc1r APN 8 124,134,789 (GRCm39) missense probably damaging 1.00
IGL02878:Mc1r APN 8 124,134,369 (GRCm39) missense probably damaging 1.00
deer UTSW 8 124,134,697 (GRCm39) missense probably damaging 1.00
R1240:Mc1r UTSW 8 124,134,999 (GRCm39) missense probably damaging 1.00
R1871:Mc1r UTSW 8 124,134,275 (GRCm39) missense probably benign
R2071:Mc1r UTSW 8 124,135,108 (GRCm39) missense possibly damaging 0.84
R4006:Mc1r UTSW 8 124,134,376 (GRCm39) missense probably damaging 1.00
R4865:Mc1r UTSW 8 124,134,255 (GRCm39) missense probably benign 0.25
R6652:Mc1r UTSW 8 124,134,370 (GRCm39) missense probably damaging 1.00
R6765:Mc1r UTSW 8 124,134,435 (GRCm39) missense probably damaging 1.00
R7580:Mc1r UTSW 8 124,134,906 (GRCm39) missense probably damaging 1.00
R7609:Mc1r UTSW 8 124,135,032 (GRCm39) missense probably damaging 0.98
R7982:Mc1r UTSW 8 124,134,879 (GRCm39) missense probably damaging 1.00
R8695:Mc1r UTSW 8 124,135,116 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGTGCCTGTATGTGTCCATC -3'
(R):5'- GATGCTGACCATCCAGATGC -3'

Sequencing Primer
(F):5'- TGTATGTGTCCATCCCAGATG -3'
(R):5'- TGACCATCCAGATGCCCACG -3'
Posted On 2015-06-12