Incidental Mutation 'IGL02747:Or8b3b'
ID 306076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b3b
Ensembl Gene ENSMUSG00000046150
Gene Name olfactory receptor family 8 subfamily B member 3B
Synonyms GA_x6K02T2PVTD-32375756-32374818, MOR164-3, Olfr918
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.259) question?
Stock # IGL02747
Quality Score
Chromosome 9
Chromosomal Location 38583800-38584777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38584380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 133 (Y133C)
Ref Sequence ENSEMBL: ENSMUSP00000057210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055099] [ENSMUST00000215461]
AlphaFold E9PVZ7
Predicted Effect probably benign
Transcript: ENSMUST00000055099
AA Change: Y133C

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000057210
Gene: ENSMUSG00000046150
AA Change: Y133C

transmembrane domain 9 31 N/A INTRINSIC
Pfam:7tm_4 44 319 6.5e-48 PFAM
Pfam:7tm_1 54 301 3.9e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213750
Predicted Effect probably benign
Transcript: ENSMUST00000215461
AA Change: Y120C

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216579
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,323,282 (GRCm39) L3373* probably null Het
Ap1s3 T C 1: 79,601,409 (GRCm39) Y94C probably damaging Het
Dbx2 T C 15: 95,530,320 (GRCm39) T216A probably benign Het
Dsg4 A G 18: 20,579,995 (GRCm39) R67G probably damaging Het
Eng G A 2: 32,562,970 (GRCm39) probably null Het
Gm28042 T A 2: 119,861,875 (GRCm39) I206N probably damaging Het
Gsdmc4 C T 15: 63,765,720 (GRCm39) M276I probably benign Het
Itih2 A G 2: 10,102,756 (GRCm39) S793P probably benign Het
Kcnj13 T C 1: 87,317,087 (GRCm39) N9D probably benign Het
Kics2 A C 10: 121,581,455 (GRCm39) Q152P possibly damaging Het
Krt78 T A 15: 101,858,819 (GRCm39) probably benign Het
Megf10 A G 18: 57,423,565 (GRCm39) K985E probably benign Het
Naa25 A G 5: 121,552,668 (GRCm39) probably benign Het
Plekhm2 T C 4: 141,361,583 (GRCm39) T307A possibly damaging Het
Ppp1cc A G 5: 122,312,136 (GRCm39) K301E probably benign Het
Ralgds T C 2: 28,438,122 (GRCm39) probably benign Het
Rccd1 A T 7: 79,970,238 (GRCm39) D126E probably benign Het
Reps1 T C 10: 17,999,348 (GRCm39) S712P probably damaging Het
Rnf103 T A 6: 71,486,161 (GRCm39) I264N probably damaging Het
Rpap1 A G 2: 119,604,609 (GRCm39) I433T probably damaging Het
Ryr2 T G 13: 11,670,563 (GRCm39) N3478H probably damaging Het
Sox30 A G 11: 45,871,772 (GRCm39) D209G probably benign Het
Sox6 A G 7: 115,088,981 (GRCm39) F628S probably damaging Het
Tas1r3 C T 4: 155,944,917 (GRCm39) G768D possibly damaging Het
Tesk2 T C 4: 116,660,076 (GRCm39) V398A probably benign Het
Tmem135 A T 7: 88,793,878 (GRCm39) I388N probably damaging Het
Tpgs2 A G 18: 25,272,202 (GRCm39) probably benign Het
Vmn2r120 G A 17: 57,831,719 (GRCm39) H357Y probably benign Het
Other mutations in Or8b3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Or8b3b APN 9 38,584,320 (GRCm39) missense probably benign 0.01
IGL01388:Or8b3b APN 9 38,584,379 (GRCm39) nonsense probably null
IGL01516:Or8b3b APN 9 38,584,159 (GRCm39) missense probably benign 0.09
IGL02121:Or8b3b APN 9 38,584,711 (GRCm39) missense probably damaging 0.98
IGL02209:Or8b3b APN 9 38,584,342 (GRCm39) missense possibly damaging 0.84
IGL02256:Or8b3b APN 9 38,584,776 (GRCm39) start codon destroyed probably null
IGL02517:Or8b3b APN 9 38,584,209 (GRCm39) missense probably damaging 1.00
IGL02648:Or8b3b APN 9 38,584,312 (GRCm39) missense probably benign
IGL02971:Or8b3b APN 9 38,584,564 (GRCm39) missense probably damaging 0.96
E0370:Or8b3b UTSW 9 38,583,857 (GRCm39) missense probably damaging 0.99
R0616:Or8b3b UTSW 9 38,584,776 (GRCm39) start codon destroyed probably null
R2173:Or8b3b UTSW 9 38,584,240 (GRCm39) missense probably benign 0.03
R2989:Or8b3b UTSW 9 38,583,831 (GRCm39) missense probably benign
R3430:Or8b3b UTSW 9 38,584,435 (GRCm39) missense probably damaging 1.00
R3809:Or8b3b UTSW 9 38,584,159 (GRCm39) missense probably benign 0.09
R4688:Or8b3b UTSW 9 38,584,659 (GRCm39) missense probably damaging 1.00
R4702:Or8b3b UTSW 9 38,584,776 (GRCm39) start codon destroyed probably null
R5548:Or8b3b UTSW 9 38,584,600 (GRCm39) missense probably benign 0.00
R5590:Or8b3b UTSW 9 38,584,261 (GRCm39) missense probably damaging 1.00
R6082:Or8b3b UTSW 9 38,583,866 (GRCm39) missense probably damaging 1.00
R6214:Or8b3b UTSW 9 38,584,510 (GRCm39) missense probably benign 0.13
R6215:Or8b3b UTSW 9 38,584,510 (GRCm39) missense probably benign 0.13
R6893:Or8b3b UTSW 9 38,584,355 (GRCm39) missense possibly damaging 0.95
R7215:Or8b3b UTSW 9 38,584,743 (GRCm39) missense probably benign 0.05
R7624:Or8b3b UTSW 9 38,583,919 (GRCm39) missense probably benign 0.18
R7862:Or8b3b UTSW 9 38,584,624 (GRCm39) missense probably benign 0.01
R8116:Or8b3b UTSW 9 38,584,464 (GRCm39) missense possibly damaging 0.93
R8897:Or8b3b UTSW 9 38,584,147 (GRCm39) missense probably damaging 1.00
R8899:Or8b3b UTSW 9 38,584,147 (GRCm39) missense probably damaging 1.00
R9114:Or8b3b UTSW 9 38,583,892 (GRCm39) missense probably benign
R9293:Or8b3b UTSW 9 38,584,414 (GRCm39) missense probably damaging 1.00
R9311:Or8b3b UTSW 9 38,583,925 (GRCm39) missense probably damaging 1.00
R9690:Or8b3b UTSW 9 38,584,477 (GRCm39) nonsense probably null
R9734:Or8b3b UTSW 9 38,584,239 (GRCm39) missense probably benign
Posted On 2015-04-16