Incidental Mutation 'R5598:Or8b1'
ID 437924
Institutional Source Beutler Lab
Gene Symbol Or8b1
Ensembl Gene ENSMUSG00000039962
Gene Name olfactory receptor family 8 subfamily B member 1
Synonyms Olfr906, GA_x6K02T2PVTD-32194085-32195020, MOR167-2
MMRRC Submission 043150-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5598 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 38399327-38400262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38399821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 165 (R165S)
Ref Sequence ENSEMBL: ENSMUSP00000151008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045493] [ENSMUST00000214344]
AlphaFold K7N5P3
Predicted Effect possibly damaging
Transcript: ENSMUST00000045493
AA Change: R165S

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000039040
Gene: ENSMUSG00000039962
AA Change: R165S

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.6e-50 PFAM
Pfam:7tm_1 41 290 2.1e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214344
AA Change: R165S

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp T C 2: 168,025,645 (GRCm39) D550G probably damaging Het
Ano6 A G 15: 95,839,228 (GRCm39) T457A probably damaging Het
Ano8 A G 8: 71,935,221 (GRCm39) V359A probably damaging Het
Aqp2 G T 15: 99,476,993 (GRCm39) probably benign Het
Atp13a5 C T 16: 29,075,829 (GRCm39) probably benign Het
Carmil3 ACCCCC ACCCCCCCCCCCC 14: 55,741,456 (GRCm39) probably null Het
Ccr1l1 A G 9: 123,778,030 (GRCm39) V139A probably benign Het
Cecr2 A G 6: 120,708,407 (GRCm39) probably null Het
Celsr2 A G 3: 108,310,119 (GRCm39) V1537A possibly damaging Het
Chd6 T A 2: 160,856,032 (GRCm39) K741N probably damaging Het
Chrna1 T A 2: 73,397,075 (GRCm39) T405S probably benign Het
Cish T C 9: 107,174,227 (GRCm39) V5A possibly damaging Het
Cmss1 C A 16: 57,131,649 (GRCm39) C159F probably damaging Het
Col1a2 A G 6: 4,516,916 (GRCm39) probably benign Het
Cradd G T 10: 95,011,666 (GRCm39) S158* probably null Het
Dmxl1 G A 18: 49,997,545 (GRCm39) A578T probably benign Het
Drd2 A G 9: 49,318,315 (GRCm39) N419S possibly damaging Het
E4f1 T C 17: 24,666,103 (GRCm39) T232A probably damaging Het
Fat2 T A 11: 55,171,956 (GRCm39) E2919V probably damaging Het
Gc T C 5: 89,586,309 (GRCm39) probably null Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hsd11b2 G A 8: 106,249,143 (GRCm39) V173I probably benign Het
Kdm6b C T 11: 69,296,900 (GRCm39) A456T probably damaging Het
Kif18b G A 11: 102,799,015 (GRCm39) P729S possibly damaging Het
Lgi1 A G 19: 38,294,629 (GRCm39) D467G possibly damaging Het
Loxl1 A G 9: 58,219,650 (GRCm39) Y174H possibly damaging Het
Mtus1 A T 8: 41,475,592 (GRCm39) I824N probably damaging Het
Myrf C T 19: 10,192,654 (GRCm39) E622K probably benign Het
Ncam1 A G 9: 49,457,051 (GRCm39) Y416H probably damaging Het
Nceh1 A G 3: 27,280,248 (GRCm39) T132A probably benign Het
Nhlrc4 G A 17: 26,162,466 (GRCm39) P94S probably damaging Het
Or2v1 C G 11: 49,025,941 (GRCm39) D307E probably benign Het
Or52s1b A T 7: 102,822,841 (GRCm39) M1K probably null Het
Pcdhac2 A G 18: 37,277,476 (GRCm39) Y152C probably damaging Het
Pdia3 C A 2: 121,244,611 (GRCm39) T8K possibly damaging Het
Pogz T A 3: 94,771,820 (GRCm39) V304E probably damaging Het
Snrnp200 A G 2: 127,068,007 (GRCm39) S835G possibly damaging Het
Susd4 T C 1: 182,719,635 (GRCm39) S417P probably benign Het
Thsd7b G A 1: 129,523,578 (GRCm39) R127H probably damaging Het
Tmco4 A G 4: 138,781,216 (GRCm39) D460G probably damaging Het
Ttll9 T A 2: 152,826,234 (GRCm39) M148K probably damaging Het
Ubn2 G A 6: 38,467,323 (GRCm39) C677Y probably benign Het
Vmn2r98 T C 17: 19,301,161 (GRCm39) I721T probably benign Het
Wdfy4 C A 14: 32,855,454 (GRCm39) C720F probably damaging Het
Zzef1 G A 11: 72,807,347 (GRCm39) D2742N probably damaging Het
Other mutations in Or8b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03127:Or8b1 APN 9 38,399,882 (GRCm39) missense probably benign 0.13
R0948:Or8b1 UTSW 9 38,400,244 (GRCm39) missense probably benign 0.00
R1236:Or8b1 UTSW 9 38,399,525 (GRCm39) missense probably damaging 1.00
R1246:Or8b1 UTSW 9 38,400,086 (GRCm39) missense probably damaging 1.00
R1442:Or8b1 UTSW 9 38,399,939 (GRCm39) missense probably benign 0.10
R2016:Or8b1 UTSW 9 38,399,309 (GRCm39) critical splice acceptor site probably null
R2264:Or8b1 UTSW 9 38,399,351 (GRCm39) missense possibly damaging 0.50
R2268:Or8b1 UTSW 9 38,399,504 (GRCm39) missense probably damaging 1.00
R3853:Or8b1 UTSW 9 38,400,247 (GRCm39) missense probably benign 0.18
R4066:Or8b1 UTSW 9 38,399,778 (GRCm39) missense probably benign 0.17
R4594:Or8b1 UTSW 9 38,400,057 (GRCm39) missense probably damaging 0.98
R5192:Or8b1 UTSW 9 38,400,101 (GRCm39) missense possibly damaging 0.69
R5436:Or8b1 UTSW 9 38,399,835 (GRCm39) missense probably benign 0.31
R5694:Or8b1 UTSW 9 38,399,532 (GRCm39) missense probably damaging 1.00
R5914:Or8b1 UTSW 9 38,399,657 (GRCm39) missense probably damaging 1.00
R5959:Or8b1 UTSW 9 38,400,207 (GRCm39) missense probably damaging 1.00
R6318:Or8b1 UTSW 9 38,399,673 (GRCm39) missense probably benign
R6870:Or8b1 UTSW 9 38,399,382 (GRCm39) missense probably benign 0.19
R7482:Or8b1 UTSW 9 38,399,747 (GRCm39) missense probably damaging 0.99
R7571:Or8b1 UTSW 9 38,399,952 (GRCm39) missense probably benign 0.08
R7917:Or8b1 UTSW 9 38,399,905 (GRCm39) nonsense probably null
R8837:Or8b1 UTSW 9 38,399,597 (GRCm39) missense probably benign 0.05
R9562:Or8b1 UTSW 9 38,400,092 (GRCm39) missense possibly damaging 0.45
R9628:Or8b1 UTSW 9 38,399,871 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- ATCTCTTATACGGGGTGTATGAC -3'
(R):5'- ATGCTGGAGAGAATGAACCC -3'

Sequencing Primer
(F):5'- GATCGCTATGTAGCCATC -3'
(R):5'- CCCATAAGAGATAAAAATGGTGATGC -3'
Posted On 2016-10-26