Incidental Mutation 'IGL02277:Or2y8'
ID 287355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2y8
Ensembl Gene ENSMUSG00000062204
Gene Name olfactory receptor family 2 subfamily Y member 8
Synonyms GA_x6K02T2QP88-3283154-3284089, Olfr1373, MOR256-69_p
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02277
Quality Score
Status
Chromosome 11
Chromosomal Location 52035420-52036355 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52036189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 56 (H56L)
Ref Sequence ENSEMBL: ENSMUSP00000077384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078264]
AlphaFold Q7TQT6
Predicted Effect probably damaging
Transcript: ENSMUST00000078264
AA Change: H56L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077384
Gene: ENSMUSG00000062204
AA Change: H56L

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 4.7e-46 PFAM
Pfam:7tm_1 41 289 1.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C T 9: 57,165,708 (GRCm39) G222D probably benign Het
Abcc6 T C 7: 45,650,485 (GRCm39) D625G probably benign Het
Akr1c12 C T 13: 4,322,268 (GRCm39) R258Q probably damaging Het
Akr1c20 T A 13: 4,564,404 (GRCm39) E36D probably benign Het
Csn2 A G 5: 87,845,881 (GRCm39) probably benign Het
Dennd5a T C 7: 109,497,176 (GRCm39) I1084V possibly damaging Het
Dlg1 A G 16: 31,609,082 (GRCm39) I259V probably damaging Het
Dpysl5 A G 5: 30,946,125 (GRCm39) I344V probably damaging Het
Fcrl6 A G 1: 172,426,686 (GRCm39) C87R probably damaging Het
Fras1 A G 5: 96,735,977 (GRCm39) E524G probably benign Het
Gabpb2 A G 3: 95,096,595 (GRCm39) V270A probably benign Het
Gm5591 T A 7: 38,218,462 (GRCm39) I804F possibly damaging Het
Gm5591 T C 7: 38,219,856 (GRCm39) D339G probably damaging Het
Ighv2-5 T A 12: 113,649,127 (GRCm39) T109S possibly damaging Het
Ints4 T A 7: 97,136,665 (GRCm39) L119Q probably damaging Het
Kansl3 A T 1: 36,388,028 (GRCm39) D386E possibly damaging Het
Kdm3b A T 18: 34,956,717 (GRCm39) H1224L probably damaging Het
Macf1 C A 4: 123,380,497 (GRCm39) R1523L probably damaging Het
Myo1f A G 17: 33,798,835 (GRCm39) probably null Het
Nup188 A G 2: 30,216,523 (GRCm39) T776A possibly damaging Het
Or1q1 G A 2: 36,887,196 (GRCm39) probably null Het
Or4f56 T A 2: 111,703,925 (GRCm39) I92F possibly damaging Het
Plxnb1 T A 9: 108,941,201 (GRCm39) L1660Q probably damaging Het
Ppp1r17 A G 6: 56,003,123 (GRCm39) D71G probably damaging Het
Ptprt T C 2: 161,389,301 (GRCm39) Q1264R probably damaging Het
Rgl3 C T 9: 21,885,405 (GRCm39) V642M probably damaging Het
Slc26a2 T C 18: 61,332,052 (GRCm39) T460A probably damaging Het
Smtnl2 T A 11: 72,282,199 (GRCm39) M395L probably damaging Het
St3gal5 A T 6: 72,119,184 (GRCm39) T99S possibly damaging Het
Unc5b T C 10: 60,610,521 (GRCm39) N421S probably benign Het
Zcchc17 G A 4: 130,221,014 (GRCm39) T179M probably benign Het
Zfp369 T C 13: 65,432,746 (GRCm39) S79P probably damaging Het
Other mutations in Or2y8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02814:Or2y8 APN 11 52,035,637 (GRCm39) missense probably damaging 1.00
R0490:Or2y8 UTSW 11 52,035,493 (GRCm39) missense probably damaging 1.00
R1075:Or2y8 UTSW 11 52,035,677 (GRCm39) missense possibly damaging 0.94
R4050:Or2y8 UTSW 11 52,035,961 (GRCm39) missense probably damaging 1.00
R5666:Or2y8 UTSW 11 52,035,525 (GRCm39) nonsense probably null
R6267:Or2y8 UTSW 11 52,035,423 (GRCm39) missense probably benign 0.28
R6296:Or2y8 UTSW 11 52,035,423 (GRCm39) missense probably benign 0.28
R6720:Or2y8 UTSW 11 52,035,520 (GRCm39) missense probably benign 0.18
R6887:Or2y8 UTSW 11 52,036,179 (GRCm39) missense probably benign 0.01
R8797:Or2y8 UTSW 11 52,036,340 (GRCm39) missense probably benign 0.05
V1662:Or2y8 UTSW 11 52,036,004 (GRCm39) missense probably damaging 1.00
X0066:Or2y8 UTSW 11 52,036,091 (GRCm39) missense probably benign 0.04
Posted On 2015-04-16