Incidental Mutation 'IGL02713:Or8b101'
ID 304638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b101
Ensembl Gene ENSMUSG00000095527
Gene Name olfactory receptor family 8 subfamily B member 101
Synonyms Olfr888, GA_x6K02T2PVTD-31787920-31788864, MOR162-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL02713
Quality Score
Status
Chromosome 9
Chromosomal Location 38019984-38020928 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 38020623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 214 (P214S)
Ref Sequence ENSEMBL: ENSMUSP00000074713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075228] [ENSMUST00000211851]
AlphaFold Q9EQA5
Predicted Effect probably damaging
Transcript: ENSMUST00000075228
AA Change: P214S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074713
Gene: ENSMUSG00000095527
AA Change: P214S

DomainStartEndE-ValueType
Pfam:7tm_4 36 311 8.8e-49 PFAM
Pfam:7tm_1 46 293 3.9e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211851
AA Change: P209S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,749,992 (GRCm39) T1588A possibly damaging Het
Apeh A T 9: 107,962,871 (GRCm39) L700Q probably damaging Het
Arid1b T C 17: 5,393,286 (GRCm39) I2272T probably damaging Het
Best3 T G 10: 116,860,434 (GRCm39) F565V probably benign Het
Birc6 A G 17: 74,886,319 (GRCm39) N521S probably benign Het
Cd209f T A 8: 4,153,732 (GRCm39) R191S probably benign Het
Clec4e A T 6: 123,263,263 (GRCm39) Y63* probably null Het
Cracdl C A 1: 37,663,218 (GRCm39) K893N possibly damaging Het
Cyp26c1 C T 19: 37,681,667 (GRCm39) T490M probably damaging Het
Cyp2b9 T A 7: 25,872,945 (GRCm39) H29Q probably benign Het
Cyp2d10 A C 15: 82,290,283 (GRCm39) probably benign Het
Dgat1 C A 15: 76,387,734 (GRCm39) R291L probably damaging Het
Dyrk1a C A 16: 94,486,204 (GRCm39) probably benign Het
Esp4 T C 17: 40,913,297 (GRCm39) F55L probably benign Het
Fam227a G A 15: 79,520,997 (GRCm39) probably benign Het
Ggt1 T C 10: 75,410,178 (GRCm39) Y37H probably damaging Het
Grsf1 A T 5: 88,820,589 (GRCm39) I64K probably damaging Het
Itga6 C T 2: 71,647,057 (GRCm39) T89I possibly damaging Het
Jph2 T C 2: 163,217,837 (GRCm39) T280A probably damaging Het
Lipm A G 19: 34,078,570 (GRCm39) M1V probably null Het
Nbeal1 C T 1: 60,274,396 (GRCm39) A513V possibly damaging Het
Or10a3 G A 7: 108,480,060 (GRCm39) T251I probably damaging Het
Or10a48 A T 7: 108,424,801 (GRCm39) M135K probably damaging Het
Or10q1b A T 19: 13,682,553 (GRCm39) I121F possibly damaging Het
Or13a28 A T 7: 140,217,829 (GRCm39) I72F probably damaging Het
Or5ak25 T A 2: 85,268,981 (GRCm39) I174F probably damaging Het
Orc6 A G 8: 86,034,215 (GRCm39) E146G probably benign Het
Patl2 A G 2: 121,956,328 (GRCm39) S179P probably benign Het
Pdzd8 C A 19: 59,333,890 (GRCm39) G44C probably damaging Het
Phox2b A G 5: 67,253,938 (GRCm39) probably benign Het
Ppp4r3b T G 11: 29,138,445 (GRCm39) H264Q probably damaging Het
Ptprk T C 10: 28,468,807 (GRCm39) I1409T possibly damaging Het
Pum1 T A 4: 130,493,323 (GRCm39) I842N probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sgca T A 11: 94,862,131 (GRCm39) N174Y probably damaging Het
Slc7a14 A T 3: 31,311,912 (GRCm39) L36Q probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stard13 G A 5: 150,965,651 (GRCm39) Q935* probably null Het
Suds3 C T 5: 117,232,970 (GRCm39) probably null Het
Sv2b A T 7: 74,773,911 (GRCm39) L520Q possibly damaging Het
Tmem26 T C 10: 68,587,125 (GRCm39) F191S probably damaging Het
Other mutations in Or8b101
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01384:Or8b101 APN 9 38,020,858 (GRCm39) missense probably damaging 1.00
IGL02158:Or8b101 APN 9 38,020,425 (GRCm39) missense probably benign 0.09
BB007:Or8b101 UTSW 9 38,020,264 (GRCm39) missense possibly damaging 0.60
BB017:Or8b101 UTSW 9 38,020,264 (GRCm39) missense possibly damaging 0.60
R0007:Or8b101 UTSW 9 38,020,390 (GRCm39) missense possibly damaging 0.94
R0125:Or8b101 UTSW 9 38,020,815 (GRCm39) missense probably benign 0.03
R0310:Or8b101 UTSW 9 38,020,782 (GRCm39) missense possibly damaging 0.54
R1671:Or8b101 UTSW 9 38,020,428 (GRCm39) missense probably benign
R3687:Or8b101 UTSW 9 38,020,177 (GRCm39) missense probably damaging 1.00
R3704:Or8b101 UTSW 9 38,020,299 (GRCm39) missense possibly damaging 0.95
R3708:Or8b101 UTSW 9 38,020,740 (GRCm39) missense probably damaging 0.99
R3824:Or8b101 UTSW 9 38,020,134 (GRCm39) missense possibly damaging 0.71
R3825:Or8b101 UTSW 9 38,020,134 (GRCm39) missense possibly damaging 0.71
R4254:Or8b101 UTSW 9 38,020,546 (GRCm39) missense probably damaging 1.00
R4828:Or8b101 UTSW 9 38,020,036 (GRCm39) missense probably damaging 0.98
R7265:Or8b101 UTSW 9 38,020,227 (GRCm39) missense possibly damaging 0.78
R7918:Or8b101 UTSW 9 38,020,103 (GRCm39) nonsense probably null
R7930:Or8b101 UTSW 9 38,020,264 (GRCm39) missense possibly damaging 0.60
R8062:Or8b101 UTSW 9 38,020,213 (GRCm39) missense probably damaging 1.00
R8355:Or8b101 UTSW 9 38,020,258 (GRCm39) missense probably benign 0.00
R9213:Or8b101 UTSW 9 38,020,426 (GRCm39) missense possibly damaging 0.69
R9250:Or8b101 UTSW 9 38,020,718 (GRCm39) nonsense probably null
Z1088:Or8b101 UTSW 9 38,020,882 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16