Incidental Mutation 'IGL00832:Mc3r'
ID11926
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mc3r
Ensembl Gene ENSMUSG00000038537
Gene Namemelanocortin 3 receptor
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.133) question?
Stock #IGL00832
Quality Score
Status
Chromosome2
Chromosomal Location172248492-172251114 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 172249028 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 57 (I57F)
Ref Sequence ENSEMBL: ENSMUSP00000047358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038532]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038532
AA Change: I57F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047358
Gene: ENSMUSG00000038537
AA Change: I57F

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 72,455,349 Y407C probably damaging Het
Amtn T G 5: 88,385,049 H174Q possibly damaging Het
Cdon T A 9: 35,478,116 I839N probably damaging Het
Ces2g A G 8: 104,967,839 probably benign Het
Colq G T 14: 31,528,346 C367* probably null Het
Dopey2 T C 16: 93,763,401 V745A probably benign Het
E2f8 C T 7: 48,868,203 G657D probably damaging Het
Gpcpd1 G A 2: 132,546,850 T334M probably damaging Het
Gria2 T C 3: 80,707,251 D494G probably damaging Het
Gtf3c1 T C 7: 125,654,460 probably benign Het
Gtf3c2 G A 5: 31,173,005 probably benign Het
Hnf4g G A 3: 3,641,276 C77Y probably damaging Het
Ido1 G A 8: 24,584,559 T265I possibly damaging Het
Ifih1 A G 2: 62,645,470 probably benign Het
Itga6 A G 2: 71,838,262 probably null Het
Kctd10 C A 5: 114,368,936 probably null Het
Ltk A T 2: 119,755,605 probably benign Het
Luc7l3 T C 11: 94,303,942 D84G probably benign Het
Mb21d1 A T 9: 78,434,317 C393S probably damaging Het
Mmp1b T A 9: 7,387,023 Q63L possibly damaging Het
Ncr1 C A 7: 4,341,288 T225N possibly damaging Het
Nf2 T C 11: 4,791,123 K364E probably benign Het
Ppl A T 16: 5,088,975 L1152H probably damaging Het
Primpol A G 8: 46,581,597 V432A probably damaging Het
Rbl2 A G 8: 91,085,445 D214G probably damaging Het
Rxfp2 A T 5: 150,066,428 M425L probably benign Het
Slc5a3 T C 16: 92,077,631 M192T probably damaging Het
Tbx18 T A 9: 87,705,661 S468C probably damaging Het
Tex10 T C 4: 48,468,864 T104A probably benign Het
Unc13b T G 4: 43,258,921 V4153G probably damaging Het
Vmn1r188 A G 13: 22,088,181 T102A probably damaging Het
Other mutations in Mc3r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01618:Mc3r APN 2 172249370 missense probably benign
IGL01784:Mc3r APN 2 172249370 missense probably benign
IGL01865:Mc3r APN 2 172249055 missense probably damaging 1.00
IGL02164:Mc3r APN 2 172249394 missense probably damaging 1.00
IGL03011:Mc3r APN 2 172249796 missense probably benign 0.08
IGL03266:Mc3r APN 2 172249269 missense probably benign 0.01
R0882:Mc3r UTSW 2 172249791 missense probably benign 0.00
R1005:Mc3r UTSW 2 172249563 missense probably benign 0.00
R1501:Mc3r UTSW 2 172249380 missense probably benign 0.19
R2374:Mc3r UTSW 2 172249154 missense possibly damaging 0.84
R3437:Mc3r UTSW 2 172249668 missense probably benign 0.23
R3813:Mc3r UTSW 2 172248879 missense probably benign 0.06
R3936:Mc3r UTSW 2 172249296 missense probably damaging 1.00
R4225:Mc3r UTSW 2 172249034 missense probably damaging 1.00
R4491:Mc3r UTSW 2 172249203 missense possibly damaging 0.50
R5074:Mc3r UTSW 2 172249613 missense possibly damaging 0.95
R5277:Mc3r UTSW 2 172249787 missense probably damaging 1.00
R5706:Mc3r UTSW 2 172249690 nonsense probably null
R5832:Mc3r UTSW 2 172249430 missense probably benign 0.01
R5865:Mc3r UTSW 2 172249672 missense possibly damaging 0.84
R5881:Mc3r UTSW 2 172249172 missense probably benign 0.22
R5905:Mc3r UTSW 2 172249209 missense probably damaging 1.00
R6028:Mc3r UTSW 2 172249209 missense probably damaging 1.00
R6492:Mc3r UTSW 2 172249154 missense possibly damaging 0.84
R7037:Mc3r UTSW 2 172249634 missense probably damaging 1.00
Z1177:Mc3r UTSW 2 172249816 missense probably benign
Posted On2012-12-06