Incidental Mutation 'IGL01095:Or8b42'
ID 51907
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b42
Ensembl Gene ENSMUSG00000052058
Gene Name olfactory receptor family 8 subfamily B member 42
Synonyms Olfr901, GA_x6K02T2PVTD-32123032-32123967, MOR162-8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL01095
Quality Score
Status
Chromosome 9
Chromosomal Location 38341580-38342515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38341811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 78 (I78V)
Ref Sequence ENSEMBL: ENSMUSP00000150506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063716] [ENSMUST00000216502] [ENSMUST00000216644]
AlphaFold Q7TRD1
Predicted Effect probably benign
Transcript: ENSMUST00000063716
AA Change: I78V

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000066714
Gene: ENSMUSG00000052058
AA Change: I78V

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 4.2e-47 PFAM
Pfam:7tm_1 42 290 3.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216502
AA Change: I78V

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000216644
AA Change: I78V

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,079,133 (GRCm39) I364L probably benign Het
Adgra1 A G 7: 139,425,570 (GRCm39) T28A possibly damaging Het
Aldh8a1 A G 10: 21,265,180 (GRCm39) E269G probably benign Het
Alkbh7 A G 17: 57,304,470 (GRCm39) probably null Het
Ap1g2 T C 14: 55,342,571 (GRCm39) T129A probably benign Het
Ap1s1 A G 5: 137,070,663 (GRCm39) I117T probably damaging Het
Brca1 G A 11: 101,415,195 (GRCm39) P119S possibly damaging Het
Chid1 A G 7: 141,110,142 (GRCm39) V62A probably damaging Het
Cpa1 A T 6: 30,642,968 (GRCm39) I299F probably benign Het
Cuzd1 A G 7: 130,917,865 (GRCm39) V245A probably damaging Het
Ddx39b T C 17: 35,465,937 (GRCm39) S71P probably benign Het
Ddx42 A G 11: 106,138,325 (GRCm39) Y708C probably damaging Het
Dnah3 C A 7: 119,550,820 (GRCm39) L3166F probably benign Het
Erap1 A G 13: 74,816,213 (GRCm39) E114G probably benign Het
Fap G A 2: 62,354,545 (GRCm39) T448I possibly damaging Het
Fhl2 A T 1: 43,170,841 (GRCm39) Y158N probably benign Het
Fscb A G 12: 64,520,155 (GRCm39) V437A possibly damaging Het
Il18 A T 9: 50,490,629 (GRCm39) D88V probably damaging Het
Il5ra A T 6: 106,719,605 (GRCm39) probably benign Het
Jakmip3 A T 7: 138,622,546 (GRCm39) Q302L probably damaging Het
Lrp2 A T 2: 69,322,776 (GRCm39) Y1857* probably null Het
Meis2 T C 2: 115,694,905 (GRCm39) T406A probably benign Het
Mre11a T A 9: 14,721,120 (GRCm39) S346R probably benign Het
Myh15 A T 16: 48,952,378 (GRCm39) K816M probably damaging Het
Mysm1 C T 4: 94,856,106 (GRCm39) probably null Het
Nyap1 C A 5: 137,736,346 (GRCm39) R47L probably damaging Het
Oas3 A G 5: 120,910,954 (GRCm39) Y209H probably damaging Het
Or2v2 T G 11: 49,003,680 (GRCm39) Y291S probably damaging Het
Or4g16 A G 2: 111,136,966 (GRCm39) R139G probably benign Het
Or6c209 A G 10: 129,483,498 (GRCm39) D167G probably benign Het
Or8d6 T C 9: 39,853,976 (GRCm39) V140A probably benign Het
Pde4b T C 4: 102,363,241 (GRCm39) probably null Het
Psd3 G A 8: 68,361,165 (GRCm39) T99M probably damaging Het
R3hcc1 T C 14: 69,937,477 (GRCm39) E390G probably damaging Het
Rabgap1l A C 1: 160,566,539 (GRCm39) C58W probably benign Het
Rasd1 A G 11: 59,855,117 (GRCm39) I121T probably damaging Het
Spta1 A G 1: 174,041,051 (GRCm39) N1284D probably benign Het
Tpr T C 1: 150,285,891 (GRCm39) V525A possibly damaging Het
Other mutations in Or8b42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01875:Or8b42 APN 9 38,341,594 (GRCm39) missense probably damaging 1.00
R0010:Or8b42 UTSW 9 38,342,216 (GRCm39) missense possibly damaging 0.70
R1186:Or8b42 UTSW 9 38,342,397 (GRCm39) missense possibly damaging 0.85
R1259:Or8b42 UTSW 9 38,342,169 (GRCm39) missense probably damaging 0.99
R1273:Or8b42 UTSW 9 38,341,980 (GRCm39) missense probably benign 0.05
R1475:Or8b42 UTSW 9 38,342,160 (GRCm39) missense probably benign 0.30
R1530:Or8b42 UTSW 9 38,341,620 (GRCm39) missense probably damaging 0.97
R1591:Or8b42 UTSW 9 38,341,707 (GRCm39) missense probably damaging 1.00
R1750:Or8b42 UTSW 9 38,341,986 (GRCm39) missense probably damaging 1.00
R1756:Or8b42 UTSW 9 38,342,291 (GRCm39) missense probably benign
R2080:Or8b42 UTSW 9 38,342,378 (GRCm39) missense probably benign 0.01
R3081:Or8b42 UTSW 9 38,342,352 (GRCm39) missense possibly damaging 0.82
R4174:Or8b42 UTSW 9 38,342,316 (GRCm39) missense probably damaging 0.97
R4299:Or8b42 UTSW 9 38,342,108 (GRCm39) missense probably damaging 1.00
R4898:Or8b42 UTSW 9 38,342,111 (GRCm39) missense probably benign 0.01
R5068:Or8b42 UTSW 9 38,341,760 (GRCm39) missense probably damaging 1.00
R5695:Or8b42 UTSW 9 38,342,472 (GRCm39) missense probably benign 0.01
R5973:Or8b42 UTSW 9 38,341,627 (GRCm39) missense probably damaging 0.99
R6929:Or8b42 UTSW 9 38,342,444 (GRCm39) missense probably benign 0.22
R8265:Or8b42 UTSW 9 38,342,469 (GRCm39) missense probably damaging 0.99
R8321:Or8b42 UTSW 9 38,341,850 (GRCm39) missense probably damaging 0.97
R9425:Or8b42 UTSW 9 38,342,286 (GRCm39) missense possibly damaging 0.60
Posted On 2013-06-21