Incidental Mutation 'IGL01865:Mc3r'
ID 178456
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mc3r
Ensembl Gene ENSMUSG00000038537
Gene Name melanocortin 3 receptor
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL01865
Quality Score
Status
Chromosome 2
Chromosomal Location 172090412-172093034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172090975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 66 (N66D)
Ref Sequence ENSEMBL: ENSMUSP00000047358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038532]
AlphaFold P33033
Predicted Effect probably damaging
Transcript: ENSMUST00000038532
AA Change: N66D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047358
Gene: ENSMUSG00000038537
AA Change: N66D

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
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T C 7: 127,836,107 (GRCm39) H162R probably damaging Het
Adamts10 T A 17: 33,772,140 (GRCm39) M1096K probably damaging Het
Asap3 G T 4: 135,963,715 (GRCm39) C325F probably damaging Het
Atm T C 9: 53,372,302 (GRCm39) E2160G probably damaging Het
Col4a1 G A 8: 11,251,790 (GRCm39) probably benign Het
Ctdp1 C T 18: 80,499,199 (GRCm39) G248S probably damaging Het
Dcaf5 A T 12: 80,386,088 (GRCm39) D679E probably benign Het
Efcab2 C A 1: 178,303,253 (GRCm39) Y91* probably null Het
Eif3d G T 15: 77,851,546 (GRCm39) T88K probably benign Het
Gapvd1 G A 2: 34,585,515 (GRCm39) A1049V probably null Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm18856 T A 13: 14,139,508 (GRCm39) probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm9991 A G 1: 90,606,635 (GRCm39) noncoding transcript Het
Hapln1 T C 13: 89,749,784 (GRCm39) Y110H probably damaging Het
Htr1f A G 16: 64,746,282 (GRCm39) Y337H probably damaging Het
Kirrel1 T A 3: 86,993,731 (GRCm39) S509C probably damaging Het
Limch1 A T 5: 67,131,923 (GRCm39) R138* probably null Het
Lypla1 A C 1: 4,907,259 (GRCm39) I108L probably damaging Het
Melk T A 4: 44,344,988 (GRCm39) C373S probably benign Het
Myocd C A 11: 65,091,723 (GRCm39) S73I probably benign Het
Nell2 A G 15: 95,282,962 (GRCm39) V360A possibly damaging Het
Npas4 G A 19: 5,035,819 (GRCm39) Q782* probably null Het
Or7a36 A T 10: 78,820,512 (GRCm39) D296V possibly damaging Het
Pdzd8 T C 19: 59,288,077 (GRCm39) K1108E possibly damaging Het
Per2 A G 1: 91,349,239 (GRCm39) I1044T probably benign Het
Pgm3 A G 9: 86,437,371 (GRCm39) F501S possibly damaging Het
Ppp1r3c A G 19: 36,711,578 (GRCm39) V64A probably benign Het
Ptpn6 A T 6: 124,709,428 (GRCm39) I15N probably damaging Het
Pxk T C 14: 8,136,923 (GRCm38) V148A possibly damaging Het
Rngtt T A 4: 33,325,157 (GRCm39) probably benign Het
Rtkn2 T G 10: 67,871,705 (GRCm39) S364R probably benign Het
Rtn1 A C 12: 72,266,074 (GRCm39) L167R probably damaging Het
Sp2 G A 11: 96,851,868 (GRCm39) T352I probably damaging Het
Tbc1d17 A G 7: 44,492,113 (GRCm39) M459T possibly damaging Het
Tbcd T A 11: 121,481,206 (GRCm39) M694K possibly damaging Het
Tln2 G A 9: 67,157,896 (GRCm39) R1148* probably null Het
Trim27 T C 13: 21,376,662 (GRCm39) V294A probably damaging Het
Tspyl5 G T 15: 33,687,858 (GRCm39) A29E unknown Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vrk2 C T 11: 26,485,560 (GRCm39) V143I possibly damaging Het
Zfp952 G A 17: 33,221,791 (GRCm39) R52Q probably benign Het
Zfp979 A T 4: 147,699,774 (GRCm39) D55E probably benign 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
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
R8931:Mc3r UTSW 2 172,091,515 (GRCm39) missense possibly damaging 0.84
R9648:Mc3r UTSW 2 172,091,639 (GRCm39) missense probably damaging 1.00
Z1177:Mc3r UTSW 2 172,091,736 (GRCm39) missense probably benign
Posted On 2014-05-07