Incidental Mutation 'R3753:Or8j3b'
ID 271293
Institutional Source Beutler Lab
Gene Symbol Or8j3b
Ensembl Gene ENSMUSG00000075187
Gene Name olfactory receptor family 8 subfamily J member 3B
Synonyms MOR185-11, GA_x6K02T2Q125-47844843-47843896, Olfr1057
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R3753 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86204807-86205754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86205259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 166 (V166I)
Ref Sequence ENSEMBL: ENSMUSP00000150623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099892] [ENSMUST00000217435]
AlphaFold Q7TR75
Predicted Effect possibly damaging
Transcript: ENSMUST00000099892
AA Change: V166I

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097477
Gene: ENSMUSG00000075187
AA Change: V166I

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 8.3e-47 PFAM
Pfam:7tm_1 41 290 1.4e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000217435
AA Change: V166I

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 98% (49/50)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,121,677 (GRCm39) I74N probably damaging Het
Acp7 T A 7: 28,316,085 (GRCm39) Y167F probably damaging Het
Acsl1 A T 8: 46,966,602 (GRCm39) probably benign Het
Bcr T C 10: 74,971,772 (GRCm39) V599A probably benign Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Cep152 A G 2: 125,466,972 (GRCm39) probably benign Het
Cstf2t T G 19: 31,060,695 (GRCm39) L77R probably damaging Het
Drd3 C T 16: 43,637,466 (GRCm39) R254W probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fam187a C T 11: 102,776,675 (GRCm39) P160S probably benign Het
Fat1 G A 8: 45,478,516 (GRCm39) E2521K probably damaging Het
Fbln1 T A 15: 85,111,279 (GRCm39) C144* probably null Het
Flii T C 11: 60,606,306 (GRCm39) D1128G probably benign Het
Gask1a A T 9: 121,794,899 (GRCm39) D351V probably damaging Het
Gata3 T A 2: 9,873,651 (GRCm39) H281L probably benign Het
Iqsec3 C T 6: 121,353,214 (GRCm39) A1135T probably benign Het
Irak4 T C 15: 94,459,476 (GRCm39) I364T probably damaging Het
Mib2 A G 4: 155,739,741 (GRCm39) F810S probably damaging Het
Nbn G A 4: 15,964,269 (GRCm39) V115I probably damaging Het
Nfyc G T 4: 120,622,527 (GRCm39) probably benign Het
Nup210 A T 6: 90,998,377 (GRCm39) probably null Het
Or2g1 T C 17: 38,107,123 (GRCm39) S263P possibly damaging Het
Or2t48 C T 11: 58,420,516 (GRCm39) A99T probably benign Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Plce1 T C 19: 38,640,278 (GRCm39) V508A probably benign Het
Prmt2 G T 10: 76,061,137 (GRCm39) D116E probably benign Het
Prss51 T A 14: 64,333,624 (GRCm39) probably benign Het
Prune2 T A 19: 17,102,818 (GRCm39) V2659D probably benign Het
Ptpn3 C T 4: 57,270,144 (GRCm39) R6H probably damaging Het
Ramac C T 7: 81,417,395 (GRCm39) R32C probably damaging Het
Rdh12 C T 12: 79,260,446 (GRCm39) R181* probably null Het
Rsf1 T A 7: 97,311,359 (GRCm39) D696E probably benign Het
Sh3rf2 C T 18: 42,244,373 (GRCm39) R280C probably damaging Het
Slco6d1 T A 1: 98,427,502 (GRCm39) I611K probably damaging Het
Snph G A 2: 151,435,374 (GRCm39) P449L probably benign Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
Swap70 T A 7: 109,867,088 (GRCm39) W297R probably damaging Het
Tcaf3 T A 6: 42,566,738 (GRCm39) I784F probably damaging Het
Tcstv2c A T 13: 120,616,167 (GRCm39) D2V possibly damaging Het
Tox2 T A 2: 163,156,243 (GRCm39) I138N probably damaging Het
Trim54 A C 5: 31,291,488 (GRCm39) E203A probably damaging Het
Vmn2r19 A T 6: 123,292,548 (GRCm39) T197S possibly damaging Het
Vmn2r28 T A 7: 5,491,026 (GRCm39) H407L probably damaging Het
Wdr19 G A 5: 65,382,069 (GRCm39) V430M probably damaging Het
Other mutations in Or8j3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02403:Or8j3b APN 2 86,204,867 (GRCm39) missense probably benign 0.05
IGL03267:Or8j3b APN 2 86,204,978 (GRCm39) nonsense probably null
R0133:Or8j3b UTSW 2 86,205,159 (GRCm39) missense possibly damaging 0.95
R0993:Or8j3b UTSW 2 86,205,222 (GRCm39) missense probably damaging 0.99
R1386:Or8j3b UTSW 2 86,205,265 (GRCm39) missense probably damaging 1.00
R1830:Or8j3b UTSW 2 86,205,487 (GRCm39) missense possibly damaging 0.95
R2398:Or8j3b UTSW 2 86,205,183 (GRCm39) missense probably damaging 0.98
R4394:Or8j3b UTSW 2 86,205,523 (GRCm39) missense possibly damaging 0.77
R4605:Or8j3b UTSW 2 86,205,141 (GRCm39) missense probably benign 0.01
R4835:Or8j3b UTSW 2 86,204,853 (GRCm39) missense possibly damaging 0.93
R5029:Or8j3b UTSW 2 86,205,234 (GRCm39) missense probably damaging 1.00
R5311:Or8j3b UTSW 2 86,205,094 (GRCm39) missense possibly damaging 0.91
R7487:Or8j3b UTSW 2 86,205,475 (GRCm39) missense probably damaging 1.00
R7667:Or8j3b UTSW 2 86,205,525 (GRCm39) missense probably damaging 0.99
R7770:Or8j3b UTSW 2 86,205,604 (GRCm39) missense possibly damaging 0.53
R7888:Or8j3b UTSW 2 86,205,270 (GRCm39) missense probably benign 0.02
R8678:Or8j3b UTSW 2 86,205,069 (GRCm39) missense probably benign 0.01
R9614:Or8j3b UTSW 2 86,205,012 (GRCm39) missense probably damaging 0.99
Z1176:Or8j3b UTSW 2 86,205,459 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- AGCACAAGTAGAGAAGGCTTTC -3'
(R):5'- AGCAGAGATCTTTATGCTGGCTG -3'

Sequencing Primer
(F):5'- GATGAACGGATCCTCAAAATTGC -3'
(R):5'- TGTGATGGCCTATGACCGC -3'
Posted On 2015-03-18