Incidental Mutation 'R7959:Or8b1b'
ID 650007
Institutional Source Beutler Lab
Gene Symbol Or8b1b
Ensembl Gene ENSMUSG00000094380
Gene Name olfactory receptor family 8 subfamily B member 1B
Synonyms Olfr904, MOR167-3, GA_x6K02T2PVTD-32156773-32157705
MMRRC Submission 046003-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R7959 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 38375330-38378952 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38376211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 291 (S291R)
Ref Sequence ENSEMBL: ENSMUSP00000150057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058153] [ENSMUST00000216724]
AlphaFold Q7TRC9
Predicted Effect probably damaging
Transcript: ENSMUST00000058153
AA Change: S291R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057148
Gene: ENSMUSG00000094380
AA Change: S291R

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.7e-51 PFAM
Pfam:7tm_1 41 291 1.5e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216724
AA Change: S291R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,988,013 (GRCm39) V3099A possibly damaging Het
Apba2 A G 7: 64,345,571 (GRCm39) M254V probably benign Het
Bbs7 C T 3: 36,657,085 (GRCm39) D248N probably damaging Het
Ccdc168 T C 1: 44,096,728 (GRCm39) I1457V probably benign Het
Cldn8 A G 16: 88,359,829 (GRCm39) V32A probably damaging Het
Col4a4 G T 1: 82,484,780 (GRCm39) P496T unknown Het
Cyp27a1 T A 1: 74,776,236 (GRCm39) N417K probably benign Het
Dnah7a T C 1: 53,682,621 (GRCm39) D283G probably benign Het
Efcab3 A G 11: 104,933,627 (GRCm39) K4878E probably damaging Het
Elp1 A T 4: 56,774,737 (GRCm39) M746K probably damaging Het
Fmn1 T A 2: 113,195,967 (GRCm39) Y556N unknown Het
Fsip2 T C 2: 82,816,120 (GRCm39) I3951T possibly damaging Het
Gigyf1 C T 5: 137,522,581 (GRCm39) T773I probably damaging Het
Heatr6 A T 11: 83,672,189 (GRCm39) K1066* probably null Het
Mdfic T C 6: 15,741,070 (GRCm39) S142P possibly damaging Het
Mettl16 A G 11: 74,707,852 (GRCm39) I389V probably benign Het
Mia3 T C 1: 183,125,760 (GRCm39) Y57C probably damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Nup160 T C 2: 90,544,239 (GRCm39) probably null Het
Or1e1 T C 11: 73,244,744 (GRCm39) L55P probably damaging Het
Or2n1e A G 17: 38,586,602 (GRCm39) *313W probably null Het
Or52a24 T A 7: 103,382,015 (GRCm39) V294D probably damaging Het
Or9s13 T A 1: 92,548,029 (GRCm39) C134S probably damaging Het
Pierce1 A T 2: 28,352,369 (GRCm39) N131K probably damaging Het
Plcxd1 A T 5: 110,251,422 (GRCm39) I333F probably damaging Het
Plxna2 C A 1: 194,493,270 (GRCm39) S1848R probably damaging Het
Plxna2 AT A 1: 194,476,172 (GRCm39) probably null Het
Pnpla2 T A 7: 141,037,406 (GRCm39) D136E probably benign Het
Polr1b T A 2: 128,950,014 (GRCm39) F245I probably damaging Het
Prmt9 T A 8: 78,287,594 (GRCm39) I245N probably damaging Het
Serhl A T 15: 82,986,073 (GRCm39) D62V probably damaging Het
Sh3rf3 A T 10: 58,842,925 (GRCm39) D297V probably damaging Het
Spata13 C T 14: 60,993,679 (GRCm39) R1044* probably null Het
Strbp G A 2: 37,530,906 (GRCm39) T116I probably benign Het
Supt5 T C 7: 28,015,224 (GRCm39) D977G probably benign Het
Tmem184c A G 8: 78,329,532 (GRCm39) V176A possibly damaging Het
Uhrf2 A G 19: 30,063,660 (GRCm39) N541S probably damaging Het
Vmn2r24 T A 6: 123,755,949 (GRCm39) F7Y possibly damaging Het
Vmn2r27 T C 6: 124,169,040 (GRCm39) R697G probably benign Het
Zfp994 A G 17: 22,421,761 (GRCm39) V18A probably 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
IGL02328:Or8b1b APN 9 38,375,972 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- TCCAATGAAGGCAGGTCCAAG -3'
(R):5'- ACAGGTGATCAGACTTGTACTAGTC -3'

Sequencing Primer
(F):5'- AGGTCCAAGGCCTTCAGCAC -3'
(R):5'- AGGTACACGTTGTCTCCT -3'
Posted On 2020-09-15