Incidental Mutation 'R7770:Or8j3b'
ID 598510
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
MMRRC Submission 045826-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R7770 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86204807-86205754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86205604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 51 (V51M)
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: V51M

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097477
Gene: ENSMUSG00000075187
AA Change: V51M

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: V51M

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (55/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,165,894 (GRCm39) V160E probably damaging Het
Abhd8 C T 8: 71,910,894 (GRCm39) G305S probably benign Het
Adamts20 A G 15: 94,231,579 (GRCm39) V870A probably benign Het
Agl A G 3: 116,551,886 (GRCm39) probably null Het
Cav3 A T 6: 112,449,147 (GRCm39) D55V probably damaging Het
Ccser2 T A 14: 36,648,831 (GRCm39) D556V probably damaging Het
Cdc20b T C 13: 113,215,193 (GRCm39) Y254H probably benign Het
Commd8 A G 5: 72,317,223 (GRCm39) L182S probably damaging Het
Cyp1b1 G A 17: 80,020,728 (GRCm39) A338V probably damaging Het
Def8 C A 8: 124,186,798 (GRCm39) D459E unknown Het
Dennd5b T C 6: 148,943,214 (GRCm39) Y554C probably damaging Het
Dnah7c A T 1: 46,665,460 (GRCm39) probably null Het
Dnajc5b T A 3: 19,633,181 (GRCm39) C135S probably benign Het
Dnpep G A 1: 75,293,890 (GRCm39) probably benign Het
Drc1 C T 5: 30,507,856 (GRCm39) Q293* probably null Het
Glmp A G 3: 88,233,077 (GRCm39) S72G probably benign Het
Gm5431 A T 11: 48,779,285 (GRCm39) S546T probably benign Het
Gnptab T A 10: 88,247,782 (GRCm39) C70S probably benign Het
Gpr83 G A 9: 14,778,170 (GRCm39) R180Q probably damaging Het
Gucy1a1 A T 3: 82,016,112 (GRCm39) L292Q possibly damaging Het
Gzmd T C 14: 56,368,720 (GRCm39) D58G probably damaging Het
Hoxa10 A G 6: 52,211,245 (GRCm39) S224P possibly damaging Het
Hoxa13 G A 6: 52,237,247 (GRCm39) probably benign Het
Igsf6 A G 7: 120,667,548 (GRCm39) V156A probably benign Het
Il6st A T 13: 112,639,338 (GRCm39) I649F probably damaging Het
Kcnh3 G A 15: 99,131,147 (GRCm39) V507M probably damaging Het
Lgr5 A G 10: 115,307,899 (GRCm39) I253T probably damaging Het
Met T A 6: 17,491,406 (GRCm39) V56D possibly damaging Het
Mettl22 A T 16: 8,303,764 (GRCm39) I277F possibly damaging Het
Nadsyn1 G A 7: 143,359,740 (GRCm39) R411W probably damaging Het
Nrros T G 16: 31,962,346 (GRCm39) E557A probably benign Het
Or10ak14 A T 4: 118,611,254 (GRCm39) H162Q probably benign Het
Or5w1 T C 2: 87,486,813 (GRCm39) I151V not run Het
Pih1d2 G A 9: 50,533,101 (GRCm39) R243Q not run Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Ppp1r3a A G 6: 14,754,977 (GRCm39) V90A probably benign Het
Prmt9 T A 8: 78,285,814 (GRCm39) probably null Het
Rapgef4 T A 2: 72,028,739 (GRCm39) N385K possibly damaging Het
Rbm28 G A 6: 29,164,627 (GRCm39) probably benign Het
Rhobtb3 A T 13: 76,065,934 (GRCm39) S150T probably damaging Het
Serpinb6b T C 13: 33,161,512 (GRCm39) V195A probably benign Het
Sesn1 T A 10: 41,770,054 (GRCm39) I99N probably damaging Het
Setd1b G A 5: 123,296,815 (GRCm39) probably benign Het
Slc22a19 T A 19: 7,681,360 (GRCm39) probably null Het
Slc9a4 T C 1: 40,640,123 (GRCm39) I305T probably damaging Het
Smg6 T A 11: 74,884,687 (GRCm39) N3K unknown Het
Spta1 C A 1: 174,023,547 (GRCm39) Y651* probably null Het
Tatdn3 G A 1: 190,791,053 (GRCm39) P74S probably benign Het
Tet2 C T 3: 133,186,056 (GRCm39) R1127Q possibly damaging Het
Tgfbi T A 13: 56,780,657 (GRCm39) probably null Het
Tmprss9 A G 10: 80,733,903 (GRCm39) probably null Het
Tox4 T C 14: 52,517,299 (GRCm39) Y10H probably damaging Het
Trappc10 A T 10: 78,046,679 (GRCm39) S407T probably damaging Het
Vmn2r59 A G 7: 41,708,336 (GRCm39) C24R probably damaging Het
Wdr24 C A 17: 26,046,070 (GRCm39) A465D probably benign Het
Wfdc8 A G 2: 164,439,594 (GRCm39) S263P unknown Het
Zc3h15 T A 2: 83,488,476 (GRCm39) I138N possibly 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
R3753:Or8j3b UTSW 2 86,205,259 (GRCm39) missense possibly damaging 0.53
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
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'- ACAGCCAGCATAAAGATCTCTG -3'
(R):5'- TATGTAAGACAGAAATGGTGACCTG -3'

Sequencing Primer
(F):5'- GATCTCTGCTACAATGAAAACCAGG -3'
(R):5'- AGTTCATACTCATGGGGG -3'
Posted On 2019-11-26