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
Is this an essential gene? Probably non essential (E-score: 0.199) question?
Stock # IGL02474
Quality Score
Status
Chromosome 18
Chromosomal Location 68337603-68339711 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68338839 bp (GRCm38)
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: 13,818,229 E283G probably damaging Het
Ahnak A G 19: 9,004,933 I1194V probably benign Het
Aqr T A 2: 114,112,646 N1149Y probably damaging Het
Bms1 T C 6: 118,416,519 I131V probably benign Het
Cacna1s A C 1: 136,118,380 T1461P probably benign Het
Chrnb3 T C 8: 27,393,369 S113P probably damaging Het
Col1a2 C T 6: 4,516,398 R171C unknown Het
Cramp1l A G 17: 24,985,050 V318A probably damaging Het
Csf2ra A G 19: 61,226,537 V163A possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ctnnd2 A G 15: 30,669,562 D439G possibly damaging Het
Dnah11 T A 12: 118,027,445 probably null Het
Dyrk4 C A 6: 126,880,231 C495F probably damaging Het
Gabra6 A G 11: 42,307,417 V402A probably benign Het
Gba2 T C 4: 43,568,538 M643V possibly damaging Het
Gbp9 A T 5: 105,094,567 probably benign Het
Ginm1 A G 10: 7,777,768 probably benign Het
Git1 T A 11: 77,503,391 D282E probably damaging Het
Gm5799 T C 14: 43,544,629 I86T probably damaging Het
Gm9894 T C 13: 67,765,094 noncoding transcript Het
Gng12 A G 6: 67,015,761 K4R probably benign Het
Hnrnpul1 A T 7: 25,726,757 D556E probably benign Het
Kat6b T A 14: 21,669,039 L1153Q possibly damaging Het
Ly75 A T 2: 60,383,182 L17Q probably null Het
Olfr1356 A T 10: 78,847,063 M284K probably damaging Het
Olfr175-ps1 A T 16: 58,824,656 S18T probably benign Het
Olfr524 T C 7: 140,202,587 Y61C probably damaging Het
Olfr54 C A 11: 51,027,365 A121D probably damaging Het
Olfr877 A T 9: 37,855,360 I181L probably benign Het
Pi4ka A T 16: 17,325,429 Y6N probably damaging Het
Polr2g C A 19: 8,798,456 probably null Het
Psme3 A G 11: 101,317,654 Q82R probably benign Het
Rab11a G T 9: 64,726,647 T17K possibly damaging Het
Rbm12 A T 2: 156,098,097 L85Q probably damaging Het
Skap1 A T 11: 96,708,686 Y188F probably damaging Het
Tmprss6 A T 15: 78,442,336 F34I probably damaging Het
Trip12 A C 1: 84,794,133 I98S probably benign Het
Ttn T C 2: 76,878,188 probably benign Het
Ube2t A T 1: 134,971,341 K21* probably null Het
Vmn1r216 T C 13: 23,099,477 V110A possibly damaging Het
Vmn2r109 A T 17: 20,540,888 F736I probably benign Het
Vps13c A G 9: 67,937,876 T2081A probably benign Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Mc5r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Mc5r APN 18 68339244 missense probably damaging 1.00
IGL02396:Mc5r APN 18 68339466 missense possibly damaging 0.88
IGL02489:Mc5r APN 18 68339526 missense probably damaging 0.99
IGL03323:Mc5r APN 18 68339215 missense probably benign 0.00
R0022:Mc5r UTSW 18 68338782 missense probably benign
R0022:Mc5r UTSW 18 68338782 missense probably benign
R0067:Mc5r UTSW 18 68339566 missense probably damaging 1.00
R0067:Mc5r UTSW 18 68339566 missense probably damaging 1.00
R0883:Mc5r UTSW 18 68339092 missense probably damaging 1.00
R1179:Mc5r UTSW 18 68338670 splice site probably null
R1789:Mc5r UTSW 18 68338670 splice site probably null
R1866:Mc5r UTSW 18 68338670 splice site probably null
R2291:Mc5r UTSW 18 68339364 missense probably damaging 1.00
R4297:Mc5r UTSW 18 68339307 missense probably benign 0.00
R4960:Mc5r UTSW 18 68338819 missense possibly damaging 0.50
R5062:Mc5r UTSW 18 68339281 missense probably damaging 1.00
R5521:Mc5r UTSW 18 68339677 missense possibly damaging 0.73
R5853:Mc5r UTSW 18 68339493 missense probably benign 0.25
R6007:Mc5r UTSW 18 68339247 missense possibly damaging 0.93
R7326:Mc5r UTSW 18 68339668 missense probably damaging 1.00
R9160:Mc5r UTSW 18 68339134 missense probably damaging 1.00
R9287:Mc5r UTSW 18 68339129 missense probably damaging 1.00
R9471:Mc5r UTSW 18 68339056 missense probably damaging 1.00
R9511:Mc5r UTSW 18 68339494 missense possibly damaging 0.65
Posted On 2015-04-16