Incidental Mutation 'IGL02536:Or8b47'
ID 297490
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b47
Ensembl Gene ENSMUSG00000062621
Gene Name olfactory receptor family 8 subfamily B member 47
Synonyms GA_x6K02T2PVTD-32247224-32248163, Olfr911, MOR165-1, GA_x6K02T2PVTD-32223906-32224841, Olfr909, MOR166-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02536
Quality Score
Status
Chromosome 9
Chromosomal Location 38435026-38435965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38435460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 144 (L144P)
Ref Sequence ENSEMBL: ENSMUSP00000150446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074987] [ENSMUST00000216496]
AlphaFold A0A140T8K0
Predicted Effect probably damaging
Transcript: ENSMUST00000074987
AA Change: L144P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074515
Gene: ENSMUSG00000062621
AA Change: L144P

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.2e-46 PFAM
Pfam:7tm_1 41 290 9.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216496
AA Change: L144P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik T A 3: 59,685,665 (GRCm39) noncoding transcript Het
Abca8b C T 11: 109,872,574 (GRCm39) R9H probably benign Het
Adamts8 T A 9: 30,873,368 (GRCm39) S858T probably benign Het
Alg1 C T 16: 5,057,023 (GRCm39) Q245* probably null Het
Ankmy1 T C 1: 92,813,910 (GRCm39) Y423C probably damaging Het
Anp32a A T 9: 62,279,110 (GRCm39) T55S probably damaging Het
Arhgef9 A C X: 94,102,443 (GRCm39) V406G probably damaging Het
Bdkrb1 T C 12: 105,571,259 (GRCm39) F275S possibly damaging Het
Card9 C T 2: 26,248,844 (GRCm39) V102I possibly damaging Het
Ccdc81 A T 7: 89,526,788 (GRCm39) probably benign Het
Cd101 T A 3: 100,910,913 (GRCm39) D915V probably damaging Het
Cdk10 A G 8: 123,953,754 (GRCm39) D77G possibly damaging Het
Ctnnd1 T C 2: 84,435,540 (GRCm39) T827A probably benign Het
Dspp A C 5: 104,323,531 (GRCm39) T225P probably damaging Het
Evpl T C 11: 116,112,035 (GRCm39) E1885G probably damaging Het
Fstl4 C T 11: 53,024,851 (GRCm39) probably benign Het
Gm5930 T A 14: 44,575,015 (GRCm39) N57I probably damaging Het
Gnl2 C T 4: 124,946,401 (GRCm39) Q541* probably null Het
Igkv3-1 T C 6: 70,681,035 (GRCm39) V78A probably benign Het
Inpp5a T C 7: 139,147,338 (GRCm39) I321T probably benign Het
Kif20b T A 19: 34,951,959 (GRCm39) S1746T probably benign Het
Lrrc8c T C 5: 105,755,038 (GRCm39) I271T probably benign Het
Mrps10 T C 17: 47,685,928 (GRCm39) Y152H probably damaging Het
Myl9 C T 2: 156,620,469 (GRCm39) S2L probably damaging Het
Myof A T 19: 37,938,103 (GRCm39) H870Q probably damaging Het
Nfatc4 A T 14: 56,067,367 (GRCm39) I456F probably damaging Het
Notch2 A G 3: 98,009,723 (GRCm39) H550R probably benign Het
Or13f5 T A 4: 52,825,817 (GRCm39) V140D possibly damaging Het
Or14j2 T A 17: 37,885,817 (GRCm39) I166F probably damaging Het
Or51v8 T A 7: 103,320,164 (GRCm39) I25F possibly damaging Het
P2rx1 A T 11: 72,903,300 (GRCm39) I230F probably damaging Het
Pcnt A G 10: 76,216,063 (GRCm39) V2275A possibly damaging Het
Pip5k1a G A 3: 94,971,707 (GRCm39) T465I probably benign Het
Pnkd G A 1: 74,391,059 (GRCm39) R415H probably damaging Het
Prdx4 T A X: 154,115,443 (GRCm39) I132F probably damaging Het
Pvr A G 7: 19,652,717 (GRCm39) M66T probably benign Het
Rnf216 A G 5: 143,065,995 (GRCm39) I531T probably benign Het
Rps6ka4 A T 19: 6,809,439 (GRCm39) F405Y probably damaging Het
Serpinb2 A G 1: 107,452,679 (GRCm39) probably benign Het
Sfxn1 A G 13: 54,239,513 (GRCm39) K12R probably benign Het
Slc17a7 A G 7: 44,820,370 (GRCm39) E275G probably damaging Het
Tnpo2 A T 8: 85,771,696 (GRCm39) I245F probably benign Het
Ush2a A T 1: 188,689,463 (GRCm39) probably null Het
Yju2b A T 8: 84,987,245 (GRCm39) Y109* probably null Het
Zcchc4 C T 5: 52,965,658 (GRCm39) R321W probably damaging Het
Other mutations in Or8b47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Or8b47 APN 9 38,435,029 (GRCm39) utr 5 prime probably benign
IGL02319:Or8b47 APN 9 38,435,166 (GRCm39) missense probably damaging 0.97
IGL02415:Or8b47 APN 9 38,435,408 (GRCm39) missense probably benign 0.42
IGL02702:Or8b47 APN 9 38,435,856 (GRCm39) missense probably damaging 1.00
IGL02926:Or8b47 APN 9 38,435,021 (GRCm39) utr 5 prime probably benign
R0499:Or8b47 UTSW 9 38,435,801 (GRCm39) missense probably benign 0.01
R0662:Or8b47 UTSW 9 38,435,322 (GRCm39) missense probably damaging 0.99
R0799:Or8b47 UTSW 9 38,435,437 (GRCm39) missense probably benign 0.01
R1186:Or8b47 UTSW 9 38,435,453 (GRCm39) missense probably damaging 0.97
R1681:Or8b47 UTSW 9 38,435,413 (GRCm39) missense probably benign 0.03
R3522:Or8b47 UTSW 9 38,435,081 (GRCm39) missense probably damaging 1.00
R5820:Or8b47 UTSW 9 38,435,895 (GRCm39) missense possibly damaging 0.52
R6597:Or8b47 UTSW 9 38,435,300 (GRCm39) missense probably benign 0.00
R7721:Or8b47 UTSW 9 38,435,013 (GRCm39) critical splice acceptor site probably null
R7846:Or8b47 UTSW 9 38,435,675 (GRCm39) missense probably benign 0.00
R7985:Or8b47 UTSW 9 38,435,239 (GRCm39) missense probably damaging 1.00
R8339:Or8b47 UTSW 9 38,435,717 (GRCm39) missense probably damaging 1.00
R8460:Or8b47 UTSW 9 38,427,926 (GRCm39) unclassified probably benign
R9143:Or8b47 UTSW 9 38,427,917 (GRCm39) unclassified probably benign
R9287:Or8b47 UTSW 9 38,435,082 (GRCm39) missense probably damaging 1.00
Z1088:Or8b47 UTSW 9 38,435,155 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16