Incidental Mutation 'IGL02466:Or51h5'
ID 294573
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 # IGL02466
Quality Score
Status
Chromosome 7
Chromosomal Location 102576837-102577793 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102577723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 296 (V296E)
Ref Sequence ENSEMBL: ENSMUSP00000149174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098214] [ENSMUST00000214096] [ENSMUST00000215782]
AlphaFold Q8VGZ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000098214
AA Change: V296E

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095816
Gene: ENSMUSG00000073963
AA Change: V296E

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 possibly damaging
Transcript: ENSMUST00000214096
AA Change: V296E

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215782
AA Change: V296E

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,247,527 (GRCm39) F2425L probably benign Het
Adgre4 A T 17: 56,121,188 (GRCm39) Y418F probably benign Het
Adra1a G T 14: 66,875,322 (GRCm39) C99F probably damaging Het
Aox3 C A 1: 58,197,431 (GRCm39) H592Q probably benign Het
Cacna1f A G X: 7,495,644 (GRCm39) probably null Het
Cacna2d2 T A 9: 107,342,753 (GRCm39) I100N probably damaging Het
Cblif A T 19: 11,729,596 (GRCm39) N185I probably damaging Het
Ccr9 T A 9: 123,608,911 (GRCm39) C198S probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Col4a3 T A 1: 82,647,913 (GRCm39) C475S unknown Het
Csnk2a2 T C 8: 96,203,859 (GRCm39) D100G possibly damaging Het
Cstf2t G A 19: 31,061,277 (GRCm39) G271E possibly damaging Het
Fbxw22 T C 9: 109,214,160 (GRCm39) R219G probably damaging Het
Homez A G 14: 55,095,559 (GRCm39) F50L probably damaging Het
Hspa4l C T 3: 40,707,657 (GRCm39) Q81* probably null Het
Ifi202b T C 1: 173,799,875 (GRCm39) D202G possibly damaging Het
Inava T C 1: 136,144,173 (GRCm39) probably null Het
Mansc1 T A 6: 134,587,814 (GRCm39) D121V probably damaging Het
Or13a24 A G 7: 140,154,684 (GRCm39) Y206C probably benign Het
Or4a27 T G 2: 88,559,739 (GRCm39) D68A probably damaging Het
P2rx1 A T 11: 72,900,410 (GRCm39) probably null Het
Phactr4 A G 4: 132,104,483 (GRCm39) probably benign Het
Pus10 C T 11: 23,675,574 (GRCm39) T482I probably damaging Het
Scyl2 G T 10: 89,488,871 (GRCm39) Y206* probably null Het
Sell G A 1: 163,896,632 (GRCm39) probably null Het
Slfn10-ps C T 11: 82,921,090 (GRCm39) noncoding transcript Het
Ssh2 T C 11: 77,307,233 (GRCm39) probably benign Het
Tas2r117 A G 6: 132,779,963 (GRCm39) M34V probably benign Het
Vmn2r103 A T 17: 19,993,631 (GRCm39) T3S probably benign Het
Vmn2r73 A T 7: 85,522,084 (GRCm39) I85K probably damaging Het
Vps13b T C 15: 35,770,887 (GRCm39) V2110A possibly damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp592 G A 7: 80,673,746 (GRCm39) G237R probably damaging Het
Zkscan7 A G 9: 122,717,950 (GRCm39) E115G probably damaging Het
Zranb3 G A 1: 127,943,829 (GRCm39) T306M probably benign Het
Other mutations in Or51h5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Or51h5 APN 7 102,577,623 (GRCm39) missense probably benign 0.03
IGL02015:Or51h5 APN 7 102,577,399 (GRCm39) missense probably benign 0.06
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 2015-04-16