Incidental Mutation 'R8931:Mc3r'
ID 680290
Institutional Source Beutler Lab
Gene Symbol Mc3r
Ensembl Gene ENSMUSG00000038537
Gene Name melanocortin 3 receptor
Synonyms
MMRRC Submission 068775-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R8931 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 172090412-172093034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 172091515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 246 (I246F)
Ref Sequence ENSEMBL: ENSMUSP00000047358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038532]
AlphaFold P33033
Predicted Effect possibly damaging
Transcript: ENSMUST00000038532
AA Change: I246F

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047358
Gene: ENSMUSG00000038537
AA Change: I246F

DomainStartEndE-ValueType
Pfam:7tm_4 45 198 3.2e-12 PFAM
Pfam:7TM_GPCR_Srsx 49 314 1.9e-7 PFAM
Pfam:7tm_1 55 299 5.4e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: This gene encodes a member of the melanocortin receptor family. Melanocortin receptors are transmembrane G-protein coupled receptors, which respond to small peptide hormones and exhibit diverse functions and tissue type localization. As part of the central nervous melanocortin system, the encoded protein is competitively bound by either melanocyte stimulating hormone or agouti-related protein to regulate energy homeostasis and adaptation to food restriction. Disruption of this gene results in an increased ratio of weight gain to food intake, increased fat mass, and decreased lean mass, without having a large effect on insulin sensitivity or glucose metabolism. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygotes for a null allele exhibit obesity, increased respiratory quotient on a high fat diet, and reduced energy expenditure. Homozygotes for another null allele show reduced lean mass, increased fat mass, diet-induced obesity, increased insulin and leptin levels, and reduced energy expenditure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat3 G C 17: 13,147,405 (GRCm39) P204R probably damaging Het
Aldh3b1 A G 19: 3,968,803 (GRCm39) I250T possibly damaging Het
Ankrd11 C T 8: 123,622,718 (GRCm39) R378K probably damaging Het
Arap1 G A 7: 101,057,324 (GRCm39) R1355Q possibly damaging Het
Arhgef19 T C 4: 140,976,603 (GRCm39) V455A probably damaging Het
BC051019 T C 7: 109,315,286 (GRCm39) E323G probably damaging Het
Bzw2 T C 12: 36,184,943 (GRCm39) N2S possibly damaging Het
Calm3 G C 7: 16,651,398 (GRCm39) F66L probably damaging Het
Carmil1 T A 13: 24,338,704 (GRCm39) T191S probably benign Het
Cemip2 T A 19: 21,770,323 (GRCm39) S104T probably benign Het
Cep170 A T 1: 176,597,377 (GRCm39) C389S probably benign Het
Clhc1 C T 11: 29,510,533 (GRCm39) Q195* probably null Het
Cttnbp2 A G 6: 18,434,808 (GRCm39) L350P probably benign Het
Cyp7a1 T C 4: 6,271,238 (GRCm39) E306G possibly damaging Het
Ddx25 T C 9: 35,465,864 (GRCm39) N119S possibly damaging Het
Ephx2 G T 14: 66,322,441 (GRCm39) probably benign Het
Ern2 C T 7: 121,769,363 (GRCm39) A888T probably benign Het
Fbln2 A T 6: 91,246,072 (GRCm39) I973F probably damaging Het
Fbn1 T C 2: 125,202,095 (GRCm39) I1259M probably damaging Het
Glis1 A G 4: 107,421,060 (GRCm39) H92R probably benign Het
Gm13283 A C 4: 88,679,516 (GRCm39) D169A probably benign Het
Gpr61 A G 3: 108,057,470 (GRCm39) L397P probably benign Het
H4c11 T A 13: 21,919,369 (GRCm39) I35N probably damaging Het
Hip1 A T 5: 135,460,297 (GRCm39) probably benign Het
Hmgcs2 C T 3: 98,203,557 (GRCm39) A222V probably damaging Het
Ifna2 G A 4: 88,601,712 (GRCm39) T102I probably benign Het
Kat6b T C 14: 21,674,995 (GRCm39) S387P probably damaging Het
Ldlr G A 9: 21,643,108 (GRCm39) V45M probably damaging Het
Mug1 G C 6: 121,861,296 (GRCm39) A1306P probably benign Het
Myo15a A G 11: 60,368,020 (GRCm39) E260G probably benign Het
Naa16 A G 14: 79,582,395 (GRCm39) Y565H probably damaging Het
Ndufaf7 A G 17: 79,244,950 (GRCm39) Y23C possibly damaging Het
Nop58 G A 1: 59,731,549 (GRCm39) probably null Het
Or6c33 A T 10: 129,853,769 (GRCm39) T180S possibly damaging Het
Or6c88 A T 10: 129,406,550 (GRCm39) T9S probably benign Het
Or7g19 T A 9: 18,855,920 (GRCm39) probably benign Het
Pcdh8 G A 14: 80,006,971 (GRCm39) Q531* probably null Het
Pik3c2g A G 6: 139,821,093 (GRCm39) T297A probably benign Het
Poc1b T C 10: 99,028,861 (GRCm39) probably null Het
Prb1c G A 6: 132,338,897 (GRCm39) P107L Het
Prokr2 A G 2: 132,215,996 (GRCm39) V155A possibly damaging Het
Rce1 C T 19: 4,674,094 (GRCm39) probably benign Het
Rnf148 A T 6: 23,654,704 (GRCm39) N97K possibly damaging Het
Setbp1 A G 18: 78,899,723 (GRCm39) S1315P probably benign Het
Sgcz A G 8: 38,107,140 (GRCm39) V124A probably damaging Het
Slc25a2 C A 18: 37,771,089 (GRCm39) G147C probably damaging Het
Slc28a2b C A 2: 122,348,983 (GRCm39) P303Q Het
Sod2 T C 17: 13,227,193 (GRCm39) L49P probably damaging Het
Tbc1d12 T C 19: 38,854,098 (GRCm39) V260A probably benign Het
Tcte2 C A 17: 13,933,410 (GRCm39) probably benign Het
Tenm3 T C 8: 48,688,637 (GRCm39) T2317A probably damaging Het
Tfcp2 T C 15: 100,402,298 (GRCm39) I500V possibly damaging Het
Trav14-3 C A 14: 54,001,112 (GRCm39) Q108K probably damaging Het
Trbv14 T C 6: 41,112,364 (GRCm39) Y54H probably damaging Het
Trpm3 T A 19: 22,744,034 (GRCm39) V337E probably damaging Het
Tsbp1 T C 17: 34,659,328 (GRCm39) probably benign Het
Uox A T 3: 146,318,047 (GRCm39) I14F probably damaging Het
Wdfy3 A G 5: 102,065,421 (GRCm39) V1249A probably benign Het
Zfp511 T C 7: 139,617,194 (GRCm39) Y97H probably damaging Het
Zfp536 G T 7: 37,268,721 (GRCm39) Q232K probably benign Het
Zng1 T G 19: 24,932,780 (GRCm39) K84N probably damaging Het
Other mutations in Mc3r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Mc3r APN 2 172,090,948 (GRCm39) missense possibly damaging 0.95
IGL01618:Mc3r APN 2 172,091,290 (GRCm39) missense probably benign
IGL01784:Mc3r APN 2 172,091,290 (GRCm39) missense probably benign
IGL01865:Mc3r APN 2 172,090,975 (GRCm39) missense probably damaging 1.00
IGL02164:Mc3r APN 2 172,091,314 (GRCm39) missense probably damaging 1.00
IGL03011:Mc3r APN 2 172,091,716 (GRCm39) missense probably benign 0.08
IGL03266:Mc3r APN 2 172,091,189 (GRCm39) missense probably benign 0.01
R0882:Mc3r UTSW 2 172,091,711 (GRCm39) missense probably benign 0.00
R1005:Mc3r UTSW 2 172,091,483 (GRCm39) missense probably benign 0.00
R1501:Mc3r UTSW 2 172,091,300 (GRCm39) missense probably benign 0.19
R2374:Mc3r UTSW 2 172,091,074 (GRCm39) missense possibly damaging 0.84
R3437:Mc3r UTSW 2 172,091,588 (GRCm39) missense probably benign 0.23
R3813:Mc3r UTSW 2 172,090,799 (GRCm39) missense probably benign 0.06
R3936:Mc3r UTSW 2 172,091,216 (GRCm39) missense probably damaging 1.00
R4225:Mc3r UTSW 2 172,090,954 (GRCm39) missense probably damaging 1.00
R4491:Mc3r UTSW 2 172,091,123 (GRCm39) missense possibly damaging 0.50
R5074:Mc3r UTSW 2 172,091,533 (GRCm39) missense possibly damaging 0.95
R5277:Mc3r UTSW 2 172,091,707 (GRCm39) missense probably damaging 1.00
R5706:Mc3r UTSW 2 172,091,610 (GRCm39) nonsense probably null
R5832:Mc3r UTSW 2 172,091,350 (GRCm39) missense probably benign 0.01
R5865:Mc3r UTSW 2 172,091,592 (GRCm39) missense possibly damaging 0.84
R5881:Mc3r UTSW 2 172,091,092 (GRCm39) missense probably benign 0.22
R5905:Mc3r UTSW 2 172,091,129 (GRCm39) missense probably damaging 1.00
R6028:Mc3r UTSW 2 172,091,129 (GRCm39) missense probably damaging 1.00
R6492:Mc3r UTSW 2 172,091,074 (GRCm39) missense possibly damaging 0.84
R7037:Mc3r UTSW 2 172,091,554 (GRCm39) missense probably damaging 1.00
R8445:Mc3r UTSW 2 172,091,237 (GRCm39) missense probably damaging 1.00
R9648:Mc3r UTSW 2 172,091,639 (GRCm39) missense probably damaging 1.00
Z1177:Mc3r UTSW 2 172,091,736 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CGAGAGCAAGATGGTCATCG -3'
(R):5'- GCCGCAGAGAATCTCCTTGAAC -3'

Sequencing Primer
(F):5'- CAAGATGGTCATCGTGTGTCTCATC -3'
(R):5'- CAGAGAATCTCCTTGAACGTGTTGC -3'
Posted On 2021-08-31