Incidental Mutation 'R6492:Mc3r'
ID 522935
Institutional Source Beutler Lab
Gene Symbol Mc3r
Ensembl Gene ENSMUSG00000038537
Gene Name melanocortin 3 receptor
Synonyms
MMRRC Submission 044624-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R6492 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 172090412-172093034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 172091074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 99 (A99T)
Ref Sequence ENSEMBL: ENSMUSP00000047358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038532]
AlphaFold P33033
Predicted Effect possibly damaging
Transcript: ENSMUST00000038532
AA Change: A99T

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047358
Gene: ENSMUSG00000038537
AA Change: A99T

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 0.0890 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.5%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,631,464 (GRCm39) T587I probably benign Het
Abl1 T A 2: 31,691,667 (GRCm39) M1062K probably benign Het
Agbl4 G A 4: 111,404,469 (GRCm39) D272N probably damaging Het
Apob A T 12: 8,058,261 (GRCm39) I2215F probably damaging Het
Atp10b A T 11: 43,109,784 (GRCm39) Q821H probably damaging Het
Atp1a3 T C 7: 24,678,729 (GRCm39) Y971C probably damaging Het
Atp6ap1l A T 13: 91,031,841 (GRCm39) H280Q probably damaging Het
B4galt2 A T 4: 117,734,164 (GRCm39) M291K probably damaging Het
Cachd1 G T 4: 100,809,315 (GRCm39) V267F possibly damaging Het
Cadm2 G T 16: 66,581,715 (GRCm39) L188M probably damaging Het
Ccn6 C T 10: 39,030,983 (GRCm39) G180D probably benign Het
Ceacam19 T C 7: 19,616,517 (GRCm39) N199S probably benign Het
Chrna5 A G 9: 54,905,347 (GRCm39) D53G probably benign Het
Clca4a T A 3: 144,663,059 (GRCm39) T597S probably benign Het
Cluap1 T A 16: 3,746,476 (GRCm39) M279K probably benign Het
Cngb1 T A 8: 95,991,052 (GRCm39) M717L probably benign Het
Cp T C 3: 20,036,186 (GRCm39) V777A probably benign Het
Drosha A G 15: 12,861,792 (GRCm39) D594G probably benign Het
Exo5 A G 4: 120,778,734 (GRCm39) probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gprc5b A G 7: 118,583,800 (GRCm39) I23T possibly damaging Het
Ikbke T C 1: 131,186,955 (GRCm39) Y579C probably damaging Het
Ikzf2 T C 1: 69,578,201 (GRCm39) Y362C probably damaging Het
Itfg1 A G 8: 86,466,978 (GRCm39) V365A probably benign Het
Josd2 T C 7: 44,120,578 (GRCm39) I105T probably damaging Het
Mettl22 T A 16: 8,306,755 (GRCm39) probably null Het
Mgat5 A G 1: 127,399,301 (GRCm39) I619V probably benign Het
Nin T C 12: 70,101,308 (GRCm39) I430V probably benign Het
Or52n2c C A 7: 104,574,852 (GRCm39) A40S possibly damaging Het
Or5au1 A G 14: 52,272,902 (GRCm39) F222S probably benign Het
Or5j3 T C 2: 86,128,990 (GRCm39) F277L probably benign Het
Or5w22 C G 2: 87,363,085 (GRCm39) A236G possibly damaging Het
Or8k3 T A 2: 86,058,731 (GRCm39) I195F possibly damaging Het
Parvb T C 15: 84,188,073 (GRCm39) L272P probably damaging Het
Pde2a A G 7: 101,149,649 (GRCm39) K180E possibly damaging Het
Pik3c3 C T 18: 30,457,615 (GRCm39) T736M probably damaging Het
Plcb4 C T 2: 135,814,991 (GRCm39) R760* probably null Het
Pramel6 C T 2: 87,340,766 (GRCm39) T366I probably benign Het
Prr29 C T 11: 106,266,062 (GRCm39) R42W probably damaging Het
Prss12 A G 3: 123,241,048 (GRCm39) I81V probably benign Het
Ptpn13 A G 5: 103,649,478 (GRCm39) T294A probably benign Het
Ptprc A T 1: 138,041,300 (GRCm39) probably null Het
Sin3b T A 8: 73,460,118 (GRCm39) probably null Het
Slco5a1 T C 1: 13,060,151 (GRCm39) Y190C probably damaging Het
Slco6c1 T G 1: 97,053,538 (GRCm39) Y121S probably damaging Het
Srcap G T 7: 127,121,317 (GRCm39) G217* probably null Het
Ss18 A T 18: 14,784,145 (GRCm39) M181K probably damaging Het
Synm T C 7: 67,385,809 (GRCm39) T176A probably benign Het
Taf3 T C 2: 9,955,971 (GRCm39) E579G probably damaging Het
Taf7 A G 18: 37,776,159 (GRCm39) I136T probably damaging Het
Tfap2d G C 1: 19,174,702 (GRCm39) G52R probably benign Het
Tyrp1 A G 4: 80,759,018 (GRCm39) D297G probably null Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Wwp1 G A 4: 19,650,299 (GRCm39) S289L possibly damaging Het
Xbp1 T C 11: 5,471,005 (GRCm39) V4A probably benign Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Zbtb2 T C 10: 4,319,711 (GRCm39) Y105C probably damaging Het
Zeb2 T C 2: 45,000,508 (GRCm39) probably benign Het
Zkscan8 A T 13: 21,709,397 (GRCm39) I167N 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
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
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
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'- TGTGAGCAGGTCTTCATCAAG -3'
(R):5'- ATGACCCCGATCAAGGTGAG -3'

Sequencing Primer
(F):5'- AGGTCTTCATCAAGCCGGAG -3'
(R):5'- CCGATCAAGGTGAGGGCTTTC -3'
Posted On 2018-06-06