Incidental Mutation 'IGL02474:Mc5r'
ID 294857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mc5r
Ensembl Gene ENSMUSG00000007480
Gene Name melanocortin 5 receptor
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL02474
Quality Score
Status
Chromosome 18
Chromosomal Location 68470575-68475517 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68471910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 90 (F90L)
Ref Sequence ENSEMBL: ENSMUSP00000130497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172148]
AlphaFold P41149
Predicted Effect probably damaging
Transcript: ENSMUST00000172148
AA Change: F90L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130497
Gene: ENSMUSG00000007480
AA Change: F90L

DomainStartEndE-ValueType
low complexity region 49 62 N/A INTRINSIC
Pfam:7tm_4 90 314 1.6e-10 PFAM
Pfam:7TM_GPCR_Srsx 94 357 9.8e-10 PFAM
Pfam:7tm_1 100 342 6.2e-33 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutation of this gene results in a severe defect in water repulsion and thermoregulation due to decreased production of sebaceous lipids. Males exhibit less aggressive and more defensive behavior when placed with wildtype males. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 14,038,491 (GRCm39) E283G probably damaging Het
Ahnak A G 19: 8,982,297 (GRCm39) I1194V probably benign Het
Aqr T A 2: 113,943,127 (GRCm39) N1149Y probably damaging Het
Bms1 T C 6: 118,393,480 (GRCm39) I131V probably benign Het
Cacna1s A C 1: 136,046,118 (GRCm39) T1461P probably benign Het
Chrnb3 T C 8: 27,883,397 (GRCm39) S113P probably damaging Het
Col1a2 C T 6: 4,516,398 (GRCm39) R171C unknown Het
Cramp1 A G 17: 25,204,024 (GRCm39) V318A probably damaging Het
Csf2ra A G 19: 61,214,975 (GRCm39) V163A possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ctnnd2 A G 15: 30,669,708 (GRCm39) D439G possibly damaging Het
Dnah11 T A 12: 117,991,180 (GRCm39) probably null Het
Dyrk4 C A 6: 126,857,194 (GRCm39) C495F probably damaging Het
Gabra6 A G 11: 42,198,244 (GRCm39) V402A probably benign Het
Gba2 T C 4: 43,568,538 (GRCm39) M643V possibly damaging Het
Gbp9 A T 5: 105,242,433 (GRCm39) probably benign Het
Ginm1 A G 10: 7,653,532 (GRCm39) probably benign Het
Git1 T A 11: 77,394,217 (GRCm39) D282E probably damaging Het
Gm5799 T C 14: 43,782,086 (GRCm39) I86T probably damaging Het
Gm9894 T C 13: 67,913,213 (GRCm39) noncoding transcript Het
Gng12 A G 6: 66,992,745 (GRCm39) K4R probably benign Het
Hnrnpul1 A T 7: 25,426,182 (GRCm39) D556E probably benign Het
Kat6b T A 14: 21,719,107 (GRCm39) L1153Q possibly damaging Het
Ly75 A T 2: 60,213,526 (GRCm39) L17Q probably null Het
Or1x2 C A 11: 50,918,192 (GRCm39) A121D probably damaging Het
Or5k8 A T 16: 58,645,019 (GRCm39) S18T probably benign Het
Or6b13 T C 7: 139,782,500 (GRCm39) Y61C probably damaging Het
Or7c70 A T 10: 78,682,897 (GRCm39) M284K probably damaging Het
Or8b9 A T 9: 37,766,656 (GRCm39) I181L probably benign Het
Pi4ka A T 16: 17,143,293 (GRCm39) Y6N probably damaging Het
Polr2g C A 19: 8,775,820 (GRCm39) probably null Het
Psme3 A G 11: 101,208,480 (GRCm39) Q82R probably benign Het
Rab11a G T 9: 64,633,929 (GRCm39) T17K possibly damaging Het
Rbm12 A T 2: 155,940,017 (GRCm39) L85Q probably damaging Het
Skap1 A T 11: 96,599,512 (GRCm39) Y188F probably damaging Het
Tmprss6 A T 15: 78,326,536 (GRCm39) F34I probably damaging Het
Trip12 A C 1: 84,771,854 (GRCm39) I98S probably benign Het
Ttn T C 2: 76,708,532 (GRCm39) probably benign Het
Ube2t A T 1: 134,899,079 (GRCm39) K21* probably null Het
Vmn1r216 T C 13: 23,283,647 (GRCm39) V110A possibly damaging Het
Vmn2r109 A T 17: 20,761,150 (GRCm39) F736I probably benign Het
Vps13c A G 9: 67,845,158 (GRCm39) T2081A probably benign Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Mc5r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Mc5r APN 18 68,472,315 (GRCm39) missense probably damaging 1.00
IGL02396:Mc5r APN 18 68,472,537 (GRCm39) missense possibly damaging 0.88
IGL02489:Mc5r APN 18 68,472,597 (GRCm39) missense probably damaging 0.99
IGL03323:Mc5r APN 18 68,472,286 (GRCm39) missense probably benign 0.00
R0022:Mc5r UTSW 18 68,471,853 (GRCm39) missense probably benign
R0022:Mc5r UTSW 18 68,471,853 (GRCm39) missense probably benign
R0067:Mc5r UTSW 18 68,472,637 (GRCm39) missense probably damaging 1.00
R0067:Mc5r UTSW 18 68,472,637 (GRCm39) missense probably damaging 1.00
R0883:Mc5r UTSW 18 68,472,163 (GRCm39) missense probably damaging 1.00
R1179:Mc5r UTSW 18 68,471,741 (GRCm39) splice site probably null
R1789:Mc5r UTSW 18 68,471,741 (GRCm39) splice site probably null
R1866:Mc5r UTSW 18 68,471,741 (GRCm39) splice site probably null
R2291:Mc5r UTSW 18 68,472,435 (GRCm39) missense probably damaging 1.00
R4297:Mc5r UTSW 18 68,472,378 (GRCm39) missense probably benign 0.00
R4960:Mc5r UTSW 18 68,471,890 (GRCm39) missense possibly damaging 0.50
R5062:Mc5r UTSW 18 68,472,352 (GRCm39) missense probably damaging 1.00
R5521:Mc5r UTSW 18 68,472,748 (GRCm39) missense possibly damaging 0.73
R5853:Mc5r UTSW 18 68,472,564 (GRCm39) missense probably benign 0.25
R6007:Mc5r UTSW 18 68,472,318 (GRCm39) missense possibly damaging 0.93
R7326:Mc5r UTSW 18 68,472,739 (GRCm39) missense probably damaging 1.00
R9160:Mc5r UTSW 18 68,472,205 (GRCm39) missense probably damaging 1.00
R9287:Mc5r UTSW 18 68,472,200 (GRCm39) missense probably damaging 1.00
R9471:Mc5r UTSW 18 68,472,127 (GRCm39) missense probably damaging 1.00
R9511:Mc5r UTSW 18 68,472,565 (GRCm39) missense possibly damaging 0.65
Posted On 2015-04-16