Incidental Mutation 'R5865:Mc3r'
ID 454109
Institutional Source Beutler Lab
Gene Symbol Mc3r
Ensembl Gene ENSMUSG00000038537
Gene Name melanocortin 3 receptor
Synonyms
MMRRC Submission 044074-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R5865 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 172090412-172093034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 172091592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 271 (N271K)
Ref Sequence ENSEMBL: ENSMUSP00000047358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038532]
AlphaFold P33033
Predicted Effect possibly damaging
Transcript: ENSMUST00000038532
AA Change: N271K

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047358
Gene: ENSMUSG00000038537
AA Change: N271K

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 96.7%
  • 20x: 88.7%
Validation Efficiency 91% (59/65)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a G A 3: 32,766,277 (GRCm39) V48M possibly damaging Het
Adamts2 T G 11: 50,694,781 (GRCm39) Y1189* probably null Het
Bpifb9a T C 2: 154,108,756 (GRCm39) I419T probably benign Het
Ccbe1 A T 18: 66,216,222 (GRCm39) I167N possibly damaging Het
Ccdc187 T C 2: 26,183,380 (GRCm39) T207A probably benign Het
Cd300lf G A 11: 115,017,126 (GRCm39) L66F probably damaging Het
Cenpk A G 13: 104,372,702 (GRCm39) *92W probably null Het
Col12a1 A T 9: 79,511,760 (GRCm39) S2950R probably benign Het
Dnah3 T C 7: 119,574,331 (GRCm39) T2154A probably benign Het
Ebna1bp2 A T 4: 118,478,332 (GRCm39) probably benign Het
Elac2 G T 11: 64,888,783 (GRCm39) C532F probably benign Het
Fam171a1 T A 2: 3,226,374 (GRCm39) D377E probably benign Het
Haus6 A G 4: 86,504,594 (GRCm39) C466R possibly damaging Het
Il4ra T C 7: 125,174,348 (GRCm39) S297P probably benign Het
Itgb4 C T 11: 115,881,748 (GRCm39) R766W probably damaging Het
Kank4 T C 4: 98,659,630 (GRCm39) Y816C possibly damaging Het
Kcnc4 A T 3: 107,365,515 (GRCm39) probably null Het
Kif21b C T 1: 136,078,875 (GRCm39) R408* probably null Het
Lrrc31 A G 3: 30,733,289 (GRCm39) V475A probably benign Het
Map2k1 C T 9: 64,098,548 (GRCm39) probably null Het
Ms4a14 A G 19: 11,281,581 (GRCm39) S326P possibly damaging Het
Muc6 T A 7: 141,236,769 (GRCm39) I358F probably damaging Het
Myo5c A G 9: 75,204,770 (GRCm39) D1541G probably damaging Het
Myof T C 19: 37,899,382 (GRCm39) S1793G probably damaging Het
Nfkb1 T A 3: 135,309,541 (GRCm39) T518S probably damaging Het
Nphs1 T A 7: 30,173,810 (GRCm39) I989N probably damaging Het
Or5m12 T C 2: 85,734,865 (GRCm39) T178A probably benign Het
Pcdha5 T C 18: 37,094,474 (GRCm39) F328L probably benign Het
Pclo T A 5: 14,764,492 (GRCm39) S4322T probably benign Het
Peg10 A G 6: 4,754,375 (GRCm39) N52S probably damaging Het
Phf10 A C 17: 15,175,272 (GRCm39) probably benign Het
Pip4p1 A G 14: 51,166,332 (GRCm39) probably benign Het
Psme4 T C 11: 30,741,993 (GRCm39) I152T possibly damaging Het
Ptpn18 T A 1: 34,510,644 (GRCm39) probably benign Het
Rufy4 A T 1: 74,185,914 (GRCm39) Y527F probably damaging Het
Snx32 T C 19: 5,546,382 (GRCm39) M293V probably benign Het
Sorl1 A T 9: 41,894,330 (GRCm39) L1827M possibly damaging Het
Sstr5 T A 17: 25,710,218 (GRCm39) D337V probably benign Het
Tcaf3 A G 6: 42,573,631 (GRCm39) F194L probably benign Het
Tcerg1 T A 18: 42,669,413 (GRCm39) W459R probably damaging Het
Tet2 T A 3: 133,192,860 (GRCm39) I525L probably benign Het
Trim43b C T 9: 88,967,659 (GRCm39) V325I probably benign Het
Txndc11 A T 16: 10,940,552 (GRCm39) I180K probably damaging Het
Vmn1r193 A G 13: 22,403,395 (GRCm39) L199P probably damaging Het
Vmn2r110 A G 17: 20,804,557 (GRCm39) M121T probably benign Het
Zfhx4 G C 3: 5,467,719 (GRCm39) A2626P probably damaging Het
Zfp445 C T 9: 122,682,552 (GRCm39) S463N probably benign Het
Zwilch T A 9: 64,080,190 (GRCm39) probably null 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
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'- ACCATGTTCTTCGCCATGGTG -3'
(R):5'- CTCTTGGCTGGATGTGGAAC -3'

Sequencing Primer
(F):5'- ATGGTGCTCCTCATGGGC -3'
(R):5'- CACCTCCACGGGCATCCTAG -3'
Posted On 2017-02-10