Incidental Mutation 'IGL02401:Or8b48'
ID 291872
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 # IGL02401
Quality Score
Status
Chromosome 9
Chromosomal Location 38491540-38493507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 38492651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 26 (P26L)
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: P26L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071604
Gene: ENSMUSG00000049926
AA Change: P26L

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: P26L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef18 C T 8: 3,487,078 (GRCm39) R266C probably damaging Het
Asb11 A T X: 163,241,753 (GRCm39) probably benign Het
Cnot1 G A 8: 96,482,761 (GRCm39) T764M possibly damaging Het
Galns A G 8: 123,331,938 (GRCm39) M59T probably damaging Het
Gm5884 A G 6: 128,622,377 (GRCm39) noncoding transcript Het
Gm9312 A C 12: 24,302,106 (GRCm39) noncoding transcript Het
Lama3 T C 18: 12,690,784 (GRCm39) F1268S probably benign Het
Lrp5 A G 19: 3,643,585 (GRCm39) C1347R probably damaging Het
Lrrfip1 T C 1: 91,042,650 (GRCm39) S352P probably benign Het
Mcfd2 T C 17: 87,564,592 (GRCm39) T97A probably damaging Het
Mroh2b A G 15: 4,929,983 (GRCm39) N23S possibly damaging Het
Nr1i3 A T 1: 171,043,942 (GRCm39) probably benign Het
Or4c10b T C 2: 89,711,797 (GRCm39) F209S probably damaging Het
Orm2 A C 4: 63,281,568 (GRCm39) I100L probably benign Het
Pbsn A G X: 76,886,129 (GRCm39) M126T probably benign Het
Rpgr G T X: 10,024,956 (GRCm39) T1026K possibly damaging Het
Sdhaf3 C T 6: 7,038,855 (GRCm39) T59M probably benign Het
Shq1 T C 6: 100,625,208 (GRCm39) Y217C probably damaging Het
Slc17a8 A T 10: 89,412,522 (GRCm39) probably null Het
Slc6a19 A G 13: 73,848,709 (GRCm39) I15T probably damaging Het
Smarcd3 A T 5: 24,798,717 (GRCm39) V335E probably damaging Het
Sugp2 A G 8: 70,695,821 (GRCm39) T265A possibly damaging Het
Tfrc T G 16: 32,435,999 (GRCm39) S225R probably damaging Het
Vsig10l T A 7: 43,113,468 (GRCm39) L140Q probably damaging Het
Zbtb46 T A 2: 181,065,245 (GRCm39) T302S probably benign Het
Znhit1 T C 5: 137,011,513 (GRCm39) Y105C probably damaging 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
IGL01753: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
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