Incidental Mutation 'R0099:Or8a1b'
ID 33152
Institutional Source Beutler Lab
Gene Symbol Or8a1b
Ensembl Gene ENSMUSG00000061165
Gene Name olfactory receptor family 8 subfamily A member 1B
Synonyms MOR171-3, M72, GA_x6K02T2PVTD-31389446-31388517, MOR171-3, Olfr160
MMRRC Submission 038385-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0099 (G1)
Quality Score 212
Status Validated (trace)
Chromosome 9
Chromosomal Location 37622644-37623576 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37622750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 275 (V275E)
Ref Sequence ENSEMBL: ENSMUSP00000151178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000104875] [ENSMUST00000211952] [ENSMUST00000215727]
AlphaFold Q8VGE3
Predicted Effect probably damaging
Transcript: ENSMUST00000104875
AA Change: V275E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100468
Gene: ENSMUSG00000061165
AA Change: V275E

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.5e-48 PFAM
Pfam:7tm_1 41 290 6.7e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211952
AA Change: V275E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215727
AA Change: V275E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Meta Mutation Damage Score 0.2319 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 100% (65/65)
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]
PHENOTYPE: Mice homozygous for a reporter allele respond heterogeneously to odorants and display abnormal innervation of glomeruli by olfactory sensory axons in the olfactory bulb. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018M24Rik C T 14: 51,134,179 (GRCm39) probably benign Het
Aadacl2fm1 A C 3: 59,843,856 (GRCm39) K183N probably benign Het
Acad10 A C 5: 121,759,353 (GRCm39) D1043E probably damaging Het
Adamtsl4 C T 3: 95,591,449 (GRCm39) G173R probably benign Het
Astn1 G T 1: 158,329,721 (GRCm39) S192I probably damaging Het
Atg2a T A 19: 6,302,819 (GRCm39) V1010E probably damaging Het
Col11a2 A G 17: 34,268,648 (GRCm39) E311G probably damaging Het
Col4a3 A C 1: 82,695,714 (GRCm39) E1638A probably benign Het
Cstf2t A G 19: 31,061,231 (GRCm39) R256G probably benign Het
Cyp4a12a T C 4: 115,183,869 (GRCm39) L225P probably damaging Het
Dnah5 G A 15: 28,240,080 (GRCm39) R479H probably damaging Het
Dsg3 A G 18: 20,673,079 (GRCm39) I917V probably benign Het
Fam76a G T 4: 132,638,098 (GRCm39) probably benign Het
Fras1 T A 5: 96,762,776 (GRCm39) probably null Het
Gli1 A G 10: 127,171,875 (GRCm39) V293A probably damaging Het
Gm10782 T A 13: 56,510,956 (GRCm39) noncoding transcript Het
Greb1l A G 18: 10,509,158 (GRCm39) E490G probably damaging Het
Hydin G A 8: 111,316,193 (GRCm39) G4362R probably damaging Het
Ica1 A T 6: 8,749,778 (GRCm39) probably benign Het
Ikzf4 T A 10: 128,470,066 (GRCm39) I485F probably damaging Het
Irf5 A G 6: 29,533,966 (GRCm39) T34A probably damaging Het
Krt81 A T 15: 101,361,402 (GRCm39) C59* probably null Het
Kynu T A 2: 43,519,065 (GRCm39) probably null Het
Ly6g6c T C 17: 35,287,891 (GRCm39) V61A probably damaging Het
Manea A C 4: 26,328,104 (GRCm39) I312M probably damaging Het
Micall1 G T 15: 79,016,101 (GRCm39) probably benign Het
Mthfs A T 9: 89,108,216 (GRCm39) probably benign Het
Myh4 A G 11: 67,150,173 (GRCm39) T1877A probably benign Het
Myo3a T C 2: 22,250,409 (GRCm39) I92T probably benign Het
Nepn A G 10: 52,277,181 (GRCm39) S306G probably damaging Het
Nol8 T C 13: 49,826,165 (GRCm39) V995A probably benign Het
Or5b101 A G 19: 13,005,165 (GRCm39) F176S probably damaging Het
Or5b105 T A 19: 13,080,504 (GRCm39) T49S probably benign Het
Or8g4 A G 9: 39,661,957 (GRCm39) I92V possibly damaging Het
Pde1a T A 2: 79,698,657 (GRCm39) probably null Het
Phf14 A G 6: 11,987,696 (GRCm39) probably benign Het
Plekhh2 C T 17: 84,899,100 (GRCm39) Q1026* probably null Het
Polr2b T A 5: 77,468,797 (GRCm39) probably benign Het
Ppp1r36 G T 12: 76,483,056 (GRCm39) probably null Het
Prdm14 A T 1: 13,189,169 (GRCm39) C392S probably damaging Het
Rabgap1l A G 1: 160,509,686 (GRCm39) S436P possibly damaging Het
Rfc2 A T 5: 134,624,135 (GRCm39) probably null Het
Rfx4 A T 10: 84,730,168 (GRCm39) M437L probably benign Het
Rgs17 T A 10: 5,792,583 (GRCm39) R74S probably benign Het
Rnf139 C A 15: 58,771,264 (GRCm39) L430I probably damaging Het
Sgsm1 C A 5: 113,422,226 (GRCm39) probably benign Het
Skint6 T A 4: 112,668,698 (GRCm39) T1126S possibly damaging Het
Slc15a2 T C 16: 36,573,398 (GRCm39) E602G probably damaging Het
Stpg2 T C 3: 138,948,954 (GRCm39) probably benign Het
Sycp2l T C 13: 41,283,001 (GRCm39) probably benign Het
Tlr11 A T 14: 50,598,275 (GRCm39) N87I probably benign Het
Tril A G 6: 53,795,348 (GRCm39) F625L probably damaging Het
Ube3c T A 5: 29,812,062 (GRCm39) V434E probably damaging Het
Usp34 G A 11: 23,313,111 (GRCm39) G533R probably damaging Het
Utp25 A G 1: 192,810,778 (GRCm39) L75P probably damaging Het
Zfp93 G T 7: 23,974,900 (GRCm39) R295L probably benign Het
Other mutations in Or8a1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01989:Or8a1b APN 9 37,623,132 (GRCm39) missense probably damaging 0.98
IGL02195:Or8a1b APN 9 37,623,417 (GRCm39) missense probably benign
R0124:Or8a1b UTSW 9 37,622,759 (GRCm39) missense possibly damaging 0.79
R0129:Or8a1b UTSW 9 37,623,236 (GRCm39) missense probably damaging 1.00
R0882:Or8a1b UTSW 9 37,623,168 (GRCm39) missense probably benign 0.02
R1855:Or8a1b UTSW 9 37,623,266 (GRCm39) missense possibly damaging 0.92
R1988:Or8a1b UTSW 9 37,622,993 (GRCm39) missense possibly damaging 0.50
R2346:Or8a1b UTSW 9 37,622,661 (GRCm39) missense possibly damaging 0.50
R4164:Or8a1b UTSW 9 37,622,994 (GRCm39) missense probably benign 0.03
R4274:Or8a1b UTSW 9 37,623,364 (GRCm39) missense probably damaging 1.00
R4504:Or8a1b UTSW 9 37,622,760 (GRCm39) missense probably benign 0.03
R4505:Or8a1b UTSW 9 37,622,760 (GRCm39) missense probably benign 0.03
R4506:Or8a1b UTSW 9 37,622,760 (GRCm39) missense probably benign 0.03
R5017:Or8a1b UTSW 9 37,622,821 (GRCm39) nonsense probably null
R5268:Or8a1b UTSW 9 37,623,300 (GRCm39) missense probably damaging 1.00
R5316:Or8a1b UTSW 9 37,622,981 (GRCm39) missense possibly damaging 0.90
R5372:Or8a1b UTSW 9 37,623,234 (GRCm39) missense possibly damaging 0.49
R5385:Or8a1b UTSW 9 37,623,317 (GRCm39) missense probably damaging 1.00
R5822:Or8a1b UTSW 9 37,623,087 (GRCm39) missense probably benign 0.01
R5906:Or8a1b UTSW 9 37,623,101 (GRCm39) missense probably benign 0.23
R5990:Or8a1b UTSW 9 37,623,406 (GRCm39) missense probably damaging 0.99
R6842:Or8a1b UTSW 9 37,622,885 (GRCm39) missense probably benign
R7712:Or8a1b UTSW 9 37,623,429 (GRCm39) missense probably damaging 1.00
R8132:Or8a1b UTSW 9 37,623,369 (GRCm39) missense probably benign 0.41
R8435:Or8a1b UTSW 9 37,622,846 (GRCm39) missense probably damaging 1.00
R9054:Or8a1b UTSW 9 37,623,204 (GRCm39) missense probably damaging 1.00
R9378:Or8a1b UTSW 9 37,623,473 (GRCm39) missense probably damaging 1.00
Z1177:Or8a1b UTSW 9 37,622,860 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CAGCTACACAGAGAAACCTGTCTCG -3'
(R):5'- TGTCCAGCATCCTTCGCATCAG -3'

Sequencing Primer
(F):5'- aaaagaagaagaagaagaagaggaag -3'
(R):5'- TTCGCATCAGCTCCAATGAGG -3'
Posted On 2013-05-09