Incidental Mutation 'R1005:Mc3r'
ID 95597
Institutional Source Beutler Lab
Gene Symbol Mc3r
Ensembl Gene ENSMUSG00000038537
Gene Name melanocortin 3 receptor
Synonyms
MMRRC Submission 039115-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R1005 (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 172091483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 235 (H235R)
Ref Sequence ENSEMBL: ENSMUSP00000047358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038532]
AlphaFold P33033
Predicted Effect probably benign
Transcript: ENSMUST00000038532
AA Change: H235R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000047358
Gene: ENSMUSG00000038537
AA Change: H235R

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 0.0654 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.5%
Validation Efficiency 100% (41/41)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,155,530 (GRCm39) D163G probably benign Het
Adck1 G A 12: 88,368,872 (GRCm39) V117M probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa6 A T 11: 54,892,044 (GRCm39) M304K possibly damaging Het
Aox1 A G 1: 58,104,511 (GRCm39) T563A probably benign Het
AW551984 G A 9: 39,505,029 (GRCm39) Q488* probably null Het
Cbx2 A G 11: 118,919,400 (GRCm39) R322G probably benign Het
Csmd1 T A 8: 16,338,707 (GRCm39) T467S probably damaging Het
Cspg4 A G 9: 56,796,020 (GRCm39) I1252V probably benign Het
Enah A T 1: 181,789,495 (GRCm39) probably benign Het
Fam171a2 T C 11: 102,331,007 (GRCm39) M185V probably benign Het
Flt1 G T 5: 147,618,695 (GRCm39) N213K probably damaging Het
Fpr-rs3 T C 17: 20,844,346 (GRCm39) N265S probably benign Het
Gbp2 T C 3: 142,336,262 (GRCm39) probably benign Het
Gm6871 A T 7: 41,195,682 (GRCm39) C352S probably damaging Het
Gm9742 T C 13: 8,085,251 (GRCm39) noncoding transcript Het
Iars1 T C 13: 49,840,921 (GRCm39) I18T possibly damaging Het
Kel T C 6: 41,665,551 (GRCm39) Y523C probably damaging Het
Klk1b8 T A 7: 43,603,758 (GRCm39) C198* probably null Het
Nr0b2 G T 4: 133,280,785 (GRCm39) R17L probably benign Het
Or1a1b A G 11: 74,097,962 (GRCm39) F27L probably benign Het
Prl7a1 G A 13: 27,826,429 (GRCm39) P2L possibly damaging Het
Prrt3 G A 6: 113,471,739 (GRCm39) A811V probably damaging Het
Rab28 A G 5: 41,855,726 (GRCm39) probably benign Het
Rhobtb2 A G 14: 70,035,726 (GRCm39) L115P probably damaging Het
Robo4 A G 9: 37,319,547 (GRCm39) E599G probably damaging Het
Ros1 T A 10: 52,004,501 (GRCm39) probably benign Het
Slc22a27 A T 19: 7,904,116 (GRCm39) L7Q probably damaging Het
Slfn5 T A 11: 82,850,984 (GRCm39) L427H probably damaging Het
Smarcad1 C T 6: 65,085,711 (GRCm39) H890Y probably benign Het
Snx31 A G 15: 36,517,837 (GRCm39) probably benign Het
Sptb C T 12: 76,648,633 (GRCm39) probably null Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Ston2 T C 12: 91,615,622 (GRCm39) D262G possibly damaging Het
Trank1 T G 9: 111,162,789 (GRCm39) M16R probably benign Het
Trrap A G 5: 144,742,537 (GRCm39) E1385G probably damaging Het
Ttc8 T C 12: 98,903,403 (GRCm39) S47P 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
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
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'- AGGTACGTCACCATCTTCTATGCCC -3'
(R):5'- CGATGACGGAGTTGCACATGATGAG -3'

Sequencing Primer
(F):5'- GAGGAAAGCCCTCACCTTG -3'
(R):5'- GTTGCACATGATGAGAACCAG -3'
Posted On 2014-01-05