Incidental Mutation 'R4491:Mc3r'
ID 330708
Institutional Source Beutler Lab
Gene Symbol Mc3r
Ensembl Gene ENSMUSG00000038537
Gene Name melanocortin 3 receptor
Synonyms
MMRRC Submission 041747-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R4491 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 172090412-172093034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172091123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 115 (H115R)
Ref Sequence ENSEMBL: ENSMUSP00000047358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038532]
AlphaFold P33033
Predicted Effect possibly damaging
Transcript: ENSMUST00000038532
AA Change: H115R

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047358
Gene: ENSMUSG00000038537
AA Change: H115R

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
Meta Mutation Damage Score 0.0856 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,812 (GRCm39) P183T probably damaging Het
Bcan G A 3: 87,897,540 (GRCm39) R682* probably null Het
Bzw1 T A 1: 58,443,418 (GRCm39) L410Q probably damaging Het
Cdh5 A T 8: 104,839,672 (GRCm39) I48F probably damaging Het
Cdhr5 T C 7: 140,853,970 (GRCm39) N173D possibly damaging Het
Cfap74 T C 4: 155,513,628 (GRCm39) M480T probably benign Het
Col6a5 C T 9: 105,817,211 (GRCm39) A367T unknown Het
Cpsf1 A C 15: 76,481,922 (GRCm39) Y1064D possibly damaging Het
Defb6 A T 8: 19,278,090 (GRCm39) H54L probably benign Het
Dmtf1 A G 5: 9,190,379 (GRCm39) probably benign Het
Dnah12 T C 14: 26,455,758 (GRCm39) L827S possibly damaging Het
Dnai4 T C 4: 102,923,596 (GRCm39) E411G probably benign Het
Dsc3 T C 18: 20,134,922 (GRCm39) T21A probably benign Het
Epb41l1 G T 2: 156,364,088 (GRCm39) D866Y probably benign Het
Epha1 T C 6: 42,337,600 (GRCm39) M860V probably damaging Het
Far2 T C 6: 148,074,907 (GRCm39) L380P possibly damaging Het
Fgd5 A G 6: 91,966,280 (GRCm39) I680V possibly damaging Het
Fnbp4 T C 2: 90,583,312 (GRCm39) probably null Het
Focad G A 4: 88,278,142 (GRCm39) probably null Het
Gm14180 T A 11: 99,621,139 (GRCm39) probably benign Het
Hbb-bh2 T C 7: 103,489,622 (GRCm39) T5A probably benign Het
Ighv7-2 A G 12: 113,876,100 (GRCm39) F2L probably benign Het
Igsf5 A G 16: 96,165,281 (GRCm39) T19A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klb A G 5: 65,533,137 (GRCm39) N482S probably benign Het
Lipo2 A C 19: 33,699,100 (GRCm39) L310R probably damaging Het
Meioc A G 11: 102,565,746 (GRCm39) D398G possibly damaging Het
Or10ag60 G A 2: 87,437,736 (GRCm39) M1I probably null Het
Or56a5 A T 7: 104,792,983 (GRCm39) C172* probably null Het
Or7a37 T C 10: 78,806,151 (GRCm39) S223P probably damaging Het
Pds5a T C 5: 65,792,780 (GRCm39) T718A probably benign Het
Pdzd2 C T 15: 12,385,723 (GRCm39) D1016N possibly damaging Het
Pla2g2c T C 4: 138,461,719 (GRCm39) probably null Het
Plch1 T C 3: 63,648,160 (GRCm39) I404V probably damaging Het
Pou2af3 A G 9: 51,181,955 (GRCm39) F206L probably benign Het
Ppp2r5c A T 12: 110,546,956 (GRCm39) D522V possibly damaging Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Rapgef1 C T 2: 29,609,668 (GRCm39) P702S possibly damaging Het
Rasal3 T A 17: 32,610,359 (GRCm39) D976V probably damaging Het
Rasef A C 4: 73,652,740 (GRCm39) L587R probably damaging Het
Rptn A T 3: 93,303,818 (GRCm39) R384* probably null Het
Sema6a G A 18: 47,439,524 (GRCm39) probably benign Het
Sycp2 G T 2: 178,016,778 (GRCm39) T608K probably damaging Het
Syde1 C T 10: 78,426,062 (GRCm39) R35H probably benign Het
Taf1 G T X: 100,586,665 (GRCm39) M313I possibly damaging Het
Taf15 A T 11: 83,375,520 (GRCm39) T31S probably benign Het
Tktl2 T C 8: 66,964,664 (GRCm39) V74A probably damaging Het
Tle4 A G 19: 14,432,229 (GRCm39) V489A probably damaging Het
Tmem30a T C 9: 79,684,567 (GRCm39) H95R probably damaging Het
Trmt9b G A 8: 36,972,760 (GRCm39) C70Y probably damaging Het
Vmn1r75 C A 7: 11,614,909 (GRCm39) Q214K probably damaging Het
Vps13c C T 9: 67,817,475 (GRCm39) T1049M probably benign Het
Zfp37 T C 4: 62,110,365 (GRCm39) Q274R probably benign Het
Zfp648 T G 1: 154,080,873 (GRCm39) L344R 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
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
Predicted Primers PCR Primer
(F):5'- GGAAAACATCCTGGTGATCCTG -3'
(R):5'- GATGACCATCTTGCTCTCGG -3'

Sequencing Primer
(F):5'- GATCCTGGCTGTGGTCAG -3'
(R):5'- TGCTCTCGGAGTAGATGATGAACATC -3'
Posted On 2015-07-21