Incidental Mutation 'R5277:Mc3r'
ID 403988
Institutional Source Beutler Lab
Gene Symbol Mc3r
Ensembl Gene ENSMUSG00000038537
Gene Name melanocortin 3 receptor
Synonyms
MMRRC Submission 042864-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R5277 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 172090412-172093034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 172091707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 310 (F310L)
Ref Sequence ENSEMBL: ENSMUSP00000047358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038532]
AlphaFold P33033
Predicted Effect probably damaging
Transcript: ENSMUST00000038532
AA Change: F310L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047358
Gene: ENSMUSG00000038537
AA Change: F310L

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 0.1056 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (52/53)
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
Abi1 T C 2: 22,884,660 (GRCm39) T54A probably damaging Het
Ablim1 T C 19: 57,143,693 (GRCm39) R89G probably damaging Het
Bco1 T A 8: 117,844,128 (GRCm39) probably null Het
Bhmt A T 13: 93,761,393 (GRCm39) M185K possibly damaging Het
Camk2d T C 3: 126,478,390 (GRCm39) probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Dcaf6 A G 1: 165,251,915 (GRCm39) S70P probably benign Het
Dclre1a C T 19: 56,533,164 (GRCm39) V477I possibly damaging Het
Dnah10 C T 5: 124,905,201 (GRCm39) P4021L probably damaging Het
Dusp10 A G 1: 183,769,204 (GRCm39) N57D possibly damaging Het
Fam13b G A 18: 34,595,243 (GRCm39) R374C probably benign Het
Fyb2 G A 4: 104,872,876 (GRCm39) D686N probably damaging Het
Glra3 G A 8: 56,444,242 (GRCm39) M67I possibly damaging Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gm6180 A G 8: 42,700,177 (GRCm39) noncoding transcript Het
Grin2c A G 11: 115,144,639 (GRCm39) V629A probably damaging Het
Kif4-ps A T 12: 101,112,186 (GRCm39) noncoding transcript Het
Myh4 A G 11: 67,143,180 (GRCm39) D1036G probably damaging Het
Myh6 A G 14: 55,194,019 (GRCm39) I790T probably benign Het
Myo15a C A 11: 60,367,940 (GRCm39) Y233* probably null Het
Nckap5 A T 1: 125,954,277 (GRCm39) C758* probably null Het
Neurog3 T A 10: 61,969,632 (GRCm39) Y36N probably damaging Het
Nlrp4e T C 7: 23,020,863 (GRCm39) L450P probably benign Het
Or52d13 A T 7: 103,110,148 (GRCm39) L84H probably damaging Het
Otog A G 7: 45,896,045 (GRCm39) E170G possibly damaging Het
Ppp2r2b G T 18: 42,874,207 (GRCm39) T41K probably damaging Het
Prmt5 A T 14: 54,747,399 (GRCm39) D459E probably benign Het
Ric8b G A 10: 84,783,516 (GRCm39) V125M probably damaging Het
Rptor A G 11: 119,713,782 (GRCm39) S4G probably damaging Het
Rslcan18 T G 13: 67,246,498 (GRCm39) E371D probably benign Het
Scaf11 A T 15: 96,317,107 (GRCm39) F819Y probably damaging Het
Sema6a A T 18: 47,409,611 (GRCm39) probably benign Het
Snx29 C T 16: 11,217,688 (GRCm39) T163I possibly damaging Het
Sphkap T C 1: 83,253,885 (GRCm39) N1288S probably benign Het
Tmbim7 G A 5: 3,723,192 (GRCm39) probably null Het
Tmem63c T A 12: 87,104,531 (GRCm39) probably null Het
Tmem69 A G 4: 116,410,458 (GRCm39) F171L probably benign Het
Urod A T 4: 116,847,482 (GRCm39) probably benign Het
Vmn1r37 A T 6: 66,708,460 (GRCm39) I29L probably benign Het
Vmn2r102 A G 17: 19,914,393 (GRCm39) T653A possibly damaging Het
Vmn2r75 A C 7: 85,815,500 (GRCm39) S121R probably benign Het
Vwde T C 6: 13,186,995 (GRCm39) T831A probably benign Het
Wdr70 C T 15: 8,006,465 (GRCm39) W362* probably null Het
Zfat A G 15: 68,037,758 (GRCm39) C906R probably damaging Het
Zfp7 T C 15: 76,765,403 (GRCm39) V32A 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
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'- ACCATCACTATCCTGCTGGG -3'
(R):5'- TGACACTCAGGGCTGCTTTG -3'

Sequencing Primer
(F):5'- ATCCTGCTGGGTGTTTTCATC -3'
(R):5'- CCAGGCTATGTGCTAGATCAAACTG -3'
Posted On 2016-07-22