Incidental Mutation 'IGL02328:Or8b1b'
ID 288550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b1b
Ensembl Gene ENSMUSG00000094380
Gene Name olfactory receptor family 8 subfamily B member 1B
Synonyms Olfr904, MOR167-3, GA_x6K02T2PVTD-32156773-32157705
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL02328
Quality Score
Status
Chromosome 9
Chromosomal Location 38375330-38378952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38375972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 212 (I212F)
Ref Sequence ENSEMBL: ENSMUSP00000150057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058153] [ENSMUST00000216724]
AlphaFold Q7TRC9
Predicted Effect probably benign
Transcript: ENSMUST00000058153
AA Change: I212F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057148
Gene: ENSMUSG00000094380
AA Change: I212F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.7e-51 PFAM
Pfam:7tm_1 41 291 1.5e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216724
AA Change: I212F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,726,294 (GRCm39) N577I probably damaging Het
Arhgef1 T C 7: 24,623,240 (GRCm39) L667P probably damaging Het
Btk G A X: 133,459,449 (GRCm39) P192L probably damaging Het
Col12a1 T A 9: 79,589,348 (GRCm39) Y1069F probably damaging Het
Dnah7a C T 1: 53,564,096 (GRCm39) probably null Het
E230025N22Rik A G 18: 36,828,667 (GRCm39) S4P probably damaging Het
Ei24 A T 9: 36,696,827 (GRCm39) probably null Het
Foxred2 A G 15: 77,840,032 (GRCm39) L86P probably damaging Het
Gm3127 A T 14: 15,424,989 (GRCm39) R42W probably damaging Het
Hgf A G 5: 16,803,219 (GRCm39) Y377C probably damaging Het
Hpse2 A T 19: 42,920,038 (GRCm39) L354I probably damaging Het
Hspa4 A G 11: 53,190,885 (GRCm39) probably null Het
Iqcg T G 16: 32,839,876 (GRCm39) I357L probably benign Het
Itsn1 T C 16: 91,612,295 (GRCm39) L204P probably damaging Het
Kalrn T C 16: 34,152,594 (GRCm39) N311S probably damaging Het
Lmod2 A G 6: 24,603,832 (GRCm39) D269G probably benign Het
Med16 A G 10: 79,743,376 (GRCm39) S29P probably damaging Het
Mex3b T C 7: 82,518,920 (GRCm39) S412P probably benign Het
Myo15a A G 11: 60,417,433 (GRCm39) I3443V probably benign Het
Naip2 A T 13: 100,297,877 (GRCm39) L720I probably damaging Het
Or1e26 A G 11: 73,480,081 (GRCm39) V161A probably benign Het
Or4z4 T A 19: 12,076,146 (GRCm39) I286F probably damaging Het
Or52ab4 A T 7: 102,987,497 (GRCm39) I79F probably damaging Het
Or6c213 T C 10: 129,573,895 (GRCm39) D297G probably benign Het
Pan3 A G 5: 147,466,933 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,259,477 (GRCm39) Q1286R probably damaging Het
Scgb2b24 A G 7: 33,438,050 (GRCm39) probably benign Het
Sh2b3 T C 5: 121,955,922 (GRCm39) D520G probably benign Het
Skint4 T A 4: 111,977,255 (GRCm39) I215N possibly damaging Het
Slc24a5 A G 2: 124,922,559 (GRCm39) D107G probably damaging Het
Slit2 T C 5: 48,387,646 (GRCm39) I549T probably damaging Het
Stambp A G 6: 83,533,363 (GRCm39) L300P possibly damaging Het
Taf2 T C 15: 54,891,772 (GRCm39) N1017S probably benign Het
Tm9sf2 T G 14: 122,380,842 (GRCm39) V145G possibly damaging Het
Tor1aip2 G T 1: 155,940,720 (GRCm39) C342F probably damaging Het
Ubr4 C T 4: 139,206,233 (GRCm39) T4823M probably damaging Het
Vmn1r80 G T 7: 11,927,405 (GRCm39) A172S probably benign Het
Vmn2r67 T A 7: 84,799,898 (GRCm39) N447Y probably benign Het
Zbtb1 A G 12: 76,433,450 (GRCm39) N479D possibly damaging Het
Other mutations in Or8b1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Or8b1b APN 9 38,376,030 (GRCm39) missense probably benign
IGL01966:Or8b1b APN 9 38,376,225 (GRCm39) missense possibly damaging 0.82
IGL03394:Or8b1b APN 9 38,375,517 (GRCm39) missense probably damaging 1.00
R0085:Or8b1b UTSW 9 38,375,958 (GRCm39) missense probably benign 0.37
R0125:Or8b1b UTSW 9 38,375,757 (GRCm39) nonsense probably null
R1506:Or8b1b UTSW 9 38,375,439 (GRCm39) missense probably benign 0.02
R1545:Or8b1b UTSW 9 38,375,815 (GRCm39) missense probably benign 0.37
R1610:Or8b1b UTSW 9 38,375,927 (GRCm39) missense probably damaging 0.97
R2008:Or8b1b UTSW 9 38,375,537 (GRCm39) missense probably damaging 1.00
R2424:Or8b1b UTSW 9 38,376,128 (GRCm39) missense probably damaging 0.99
R3824:Or8b1b UTSW 9 38,375,822 (GRCm39) missense probably benign 0.13
R3964:Or8b1b UTSW 9 38,375,979 (GRCm39) missense probably benign 0.25
R4093:Or8b1b UTSW 9 38,375,379 (GRCm39) missense probably null 1.00
R4454:Or8b1b UTSW 9 38,375,938 (GRCm39) missense probably benign 0.03
R5650:Or8b1b UTSW 9 38,376,023 (GRCm39) nonsense probably null
R6921:Or8b1b UTSW 9 38,375,543 (GRCm39) missense probably benign 0.01
R7406:Or8b1b UTSW 9 38,375,439 (GRCm39) missense possibly damaging 0.88
R7597:Or8b1b UTSW 9 38,375,802 (GRCm39) missense probably benign 0.01
R7959:Or8b1b UTSW 9 38,376,211 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16