Incidental Mutation 'IGL01753:Or8b48'
ID 278833
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b48
Ensembl Gene ENSMUSG00000111448
Gene Name olfactory receptor family 8 subfamily B member 48
Synonyms MOR165-4, GA_x6K02T2PVTD-32283590-32284522, Olfr912
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.258) question?
Stock # IGL01753
Quality Score
Status
Chromosome 9
Chromosomal Location 38491540-38493507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 38492809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 79 (P79S)
Ref Sequence ENSEMBL: ENSMUSP00000150014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071681] [ENSMUST00000217160]
AlphaFold A0A1L1SSS5
Predicted Effect probably damaging
Transcript: ENSMUST00000071681
AA Change: P79S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071604
Gene: ENSMUSG00000049926
AA Change: P79S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 9.8e-51 PFAM
Pfam:7tm_1 41 290 1.3e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217160
AA Change: P79S

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A G 16: 85,599,112 (GRCm39) F163L probably benign Het
Ap2b1 A G 11: 83,212,799 (GRCm39) T60A probably damaging Het
Casp3 A G 8: 47,082,776 (GRCm39) probably benign Het
Ces1d T C 8: 93,919,438 (GRCm39) Y118C probably damaging Het
Chuk T C 19: 44,087,015 (GRCm39) probably benign Het
Clec4b2 A T 6: 123,179,169 (GRCm39) Y157F possibly damaging Het
Crppa C T 12: 36,523,176 (GRCm39) L202F probably damaging Het
Dlg4 T A 11: 69,932,173 (GRCm39) F480I probably damaging Het
Dock8 T A 19: 25,038,656 (GRCm39) probably benign Het
Dsg1b T C 18: 20,530,906 (GRCm39) probably benign Het
Dstyk T C 1: 132,390,677 (GRCm39) Y830H probably damaging Het
Hook2 T C 8: 85,719,865 (GRCm39) probably null Het
Ighv2-9-1 T C 12: 113,733,548 (GRCm39) D91G probably damaging Het
Igkv12-41 T C 6: 69,835,510 (GRCm39) R81G probably damaging Het
Jmjd1c T A 10: 67,067,794 (GRCm39) S1766T probably damaging Het
Mdn1 G A 4: 32,708,483 (GRCm39) V1670I probably benign Het
Naa15 T C 3: 51,350,274 (GRCm39) F124L probably damaging Het
Nek2 C T 1: 191,557,598 (GRCm39) Q187* probably null Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Pif1 G A 9: 65,500,590 (GRCm39) G505D probably damaging Het
Plxna4 T A 6: 32,287,413 (GRCm39) I495F probably benign Het
Ppp1r21 T C 17: 88,869,530 (GRCm39) probably benign Het
Prex1 T C 2: 166,444,802 (GRCm39) I282V probably benign Het
Pzp A T 6: 128,479,146 (GRCm39) I669N possibly damaging Het
Sipa1l2 T A 8: 126,180,031 (GRCm39) probably benign Het
Top2a T A 11: 98,898,100 (GRCm39) T689S probably damaging Het
Trerf1 T A 17: 47,626,362 (GRCm39) noncoding transcript Het
Uso1 T C 5: 92,300,777 (GRCm39) probably null Het
Vmn2r-ps158 T A 7: 42,674,139 (GRCm39) V399E probably damaging Het
Zcchc7 A G 4: 44,929,217 (GRCm39) I390V probably benign Het
Zfp90 C T 8: 107,150,782 (GRCm39) T165I probably benign Het
Other mutations in Or8b48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Or8b48 APN 9 38,492,672 (GRCm39) missense probably damaging 0.97
IGL01099:Or8b48 APN 9 38,493,373 (GRCm39) missense probably benign 0.00
IGL01749:Or8b48 APN 9 38,492,809 (GRCm39) missense probably damaging 1.00
IGL01750:Or8b48 APN 9 38,492,809 (GRCm39) missense probably damaging 1.00
IGL01751:Or8b48 APN 9 38,492,809 (GRCm39) missense probably damaging 1.00
IGL01752:Or8b48 APN 9 38,492,809 (GRCm39) missense probably damaging 1.00
IGL02262:Or8b48 APN 9 38,492,809 (GRCm39) missense probably damaging 1.00
IGL02264:Or8b48 APN 9 38,492,809 (GRCm39) missense probably damaging 1.00
IGL02298:Or8b48 APN 9 38,492,809 (GRCm39) missense probably damaging 1.00
IGL02305:Or8b48 APN 9 38,492,809 (GRCm39) missense probably damaging 1.00
IGL02309:Or8b48 APN 9 38,492,809 (GRCm39) missense probably damaging 1.00
IGL02309:Or8b48 APN 9 38,492,729 (GRCm39) missense probably damaging 1.00
IGL02317:Or8b48 APN 9 38,492,809 (GRCm39) missense probably damaging 1.00
IGL02401:Or8b48 APN 9 38,492,651 (GRCm39) missense probably damaging 1.00
R0311:Or8b48 UTSW 9 38,450,593 (GRCm39) missense probably benign 0.42
R0973:Or8b48 UTSW 9 38,492,579 (GRCm39) missense possibly damaging 0.74
R1552:Or8b48 UTSW 9 38,492,675 (GRCm39) missense probably benign 0.00
R1720:Or8b48 UTSW 9 38,492,585 (GRCm39) missense probably benign
R2149:Or8b48 UTSW 9 38,492,804 (GRCm39) missense probably benign 0.02
R2241:Or8b48 UTSW 9 38,493,101 (GRCm39) missense probably damaging 1.00
R3622:Or8b48 UTSW 9 38,492,792 (GRCm39) missense probably damaging 1.00
R4384:Or8b48 UTSW 9 38,493,349 (GRCm39) missense probably damaging 1.00
R4686:Or8b48 UTSW 9 38,493,327 (GRCm39) missense probably damaging 1.00
R4780:Or8b48 UTSW 9 38,493,265 (GRCm39) missense possibly damaging 0.84
R5221:Or8b48 UTSW 9 38,493,148 (GRCm39) missense probably damaging 1.00
R5503:Or8b48 UTSW 9 38,493,368 (GRCm39) missense probably benign
R5887:Or8b48 UTSW 9 38,493,080 (GRCm39) missense probably damaging 1.00
R6062:Or8b48 UTSW 9 38,450,440 (GRCm39) missense probably damaging 0.97
R6516:Or8b48 UTSW 9 38,492,768 (GRCm39) missense probably damaging 1.00
R6542:Or8b48 UTSW 9 38,450,733 (GRCm39) missense probably benign 0.01
R6766:Or8b48 UTSW 9 38,493,069 (GRCm39) missense probably damaging 1.00
R7057:Or8b48 UTSW 9 38,493,050 (GRCm39) missense probably damaging 1.00
R7112:Or8b48 UTSW 9 38,493,330 (GRCm39) nonsense probably null
R7414:Or8b48 UTSW 9 38,492,764 (GRCm39) missense probably benign 0.00
R7514:Or8b48 UTSW 9 38,493,347 (GRCm39) missense probably damaging 0.96
R7915:Or8b48 UTSW 9 38,492,969 (GRCm39) missense probably damaging 1.00
R9205:Or8b48 UTSW 9 38,493,373 (GRCm39) missense probably benign 0.00
R9290:Or8b48 UTSW 9 38,493,334 (GRCm39) missense probably damaging 1.00
R9626:Or8b48 UTSW 9 38,492,977 (GRCm39) missense probably benign
Z1176:Or8b48 UTSW 9 38,493,181 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16