Incidental Mutation 'IGL02015:Or51h5'
ID 183690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51h5
Ensembl Gene ENSMUSG00000073963
Gene Name olfactory receptor family 51 subfamily H member 5
Synonyms MOR10-2, GA_x6K02T2PBJ9-5638785-5639741, Olfr572
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL02015
Quality Score
Status
Chromosome 7
Chromosomal Location 102576837-102577793 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102577399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 188 (R188H)
Ref Sequence ENSEMBL: ENSMUSP00000149174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098214] [ENSMUST00000214096] [ENSMUST00000215782]
AlphaFold Q8VGZ3
Predicted Effect probably benign
Transcript: ENSMUST00000098214
AA Change: R188H

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000095816
Gene: ENSMUSG00000073963
AA Change: R188H

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 3.6e-119 PFAM
Pfam:7TM_GPCR_Srsx 37 309 2e-7 PFAM
Pfam:7tm_1 43 294 1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214096
AA Change: R188H

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000215782
AA Change: R188H

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l C A 9: 44,420,098 (GRCm39) probably null Het
C1qtnf12 A G 4: 156,047,201 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
D430041D05Rik A G 2: 104,060,749 (GRCm39) Y1382H probably damaging Het
Fut1 A T 7: 45,268,399 (GRCm39) M118L probably damaging Het
Fzd5 A T 1: 64,775,501 (GRCm39) C87S probably damaging Het
Gmcl1 A G 6: 86,684,439 (GRCm39) V361A possibly damaging Het
Inpp4a T G 1: 37,428,793 (GRCm39) F700V probably damaging Het
Klk1b21 A T 7: 43,753,782 (GRCm39) Q22L probably benign Het
Lrp2 T A 2: 69,357,922 (GRCm39) Q369L probably benign Het
Mtor C T 4: 148,624,570 (GRCm39) Q2117* probably null Het
Naip2 A T 13: 100,298,115 (GRCm39) S640R possibly damaging Het
Nt5e T C 9: 88,249,290 (GRCm39) I408T probably damaging Het
Or10ab5 T A 7: 108,245,220 (GRCm39) N188Y probably damaging Het
Or8d2 T C 9: 38,760,090 (GRCm39) S227P probably damaging Het
Plxna1 A G 6: 89,319,433 (GRCm39) L590P probably damaging Het
Ppp1r35 T C 5: 137,778,293 (GRCm39) probably benign Het
Prmt2 G A 10: 76,062,089 (GRCm39) Q39* probably null Het
Ptprg A T 14: 12,237,782 (GRCm38) N1413I possibly damaging Het
Ranbp10 C A 8: 106,506,622 (GRCm39) G233C probably damaging Het
Rapgef2 A G 3: 78,999,371 (GRCm39) probably benign Het
Rilpl2 T C 5: 124,607,876 (GRCm39) T115A probably benign Het
Scaf4 T C 16: 90,055,734 (GRCm39) S108G unknown Het
Scn10a C T 9: 119,494,017 (GRCm39) V430M probably benign Het
Sf3b3 T C 8: 111,542,922 (GRCm39) E845G possibly damaging Het
Skint2 C T 4: 112,481,325 (GRCm39) R63* probably null Het
Slc35b4 A T 6: 34,147,483 (GRCm39) V35D probably damaging Het
Slc6a3 A T 13: 73,692,833 (GRCm39) Y151F possibly damaging Het
Susd1 G A 4: 59,315,745 (GRCm39) T689I possibly damaging Het
Tbx21 T C 11: 96,989,740 (GRCm39) D484G probably benign Het
Tln2 C T 9: 67,268,721 (GRCm39) probably benign Het
Traf3 A G 12: 111,219,174 (GRCm39) N242S probably benign Het
Tut7 A G 13: 59,937,072 (GRCm39) Y790H probably damaging Het
Xiap T A X: 41,185,487 (GRCm39) probably benign Het
Other mutations in Or51h5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Or51h5 APN 7 102,577,623 (GRCm39) missense probably benign 0.03
IGL02466:Or51h5 APN 7 102,577,723 (GRCm39) missense possibly damaging 0.88
R0632:Or51h5 UTSW 7 102,577,811 (GRCm39) splice site probably null
R1852:Or51h5 UTSW 7 102,577,648 (GRCm39) missense probably damaging 1.00
R2033:Or51h5 UTSW 7 102,577,615 (GRCm39) missense probably benign 0.00
R2679:Or51h5 UTSW 7 102,577,238 (GRCm39) nonsense probably null
R4520:Or51h5 UTSW 7 102,577,764 (GRCm39) missense probably benign
R4596:Or51h5 UTSW 7 102,577,458 (GRCm39) missense possibly damaging 0.74
R5538:Or51h5 UTSW 7 102,577,728 (GRCm39) missense probably damaging 1.00
R6477:Or51h5 UTSW 7 102,577,585 (GRCm39) missense probably damaging 1.00
R7028:Or51h5 UTSW 7 102,577,149 (GRCm39) missense probably damaging 1.00
R8034:Or51h5 UTSW 7 102,577,773 (GRCm39) nonsense probably null
R9421:Or51h5 UTSW 7 102,577,711 (GRCm39) missense probably damaging 1.00
Z1177:Or51h5 UTSW 7 102,576,851 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07