Incidental Mutation 'R2398:Or8j3b'
ID 248583
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 040365-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R2398 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86204807-86205754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86205183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 191 (D191V)
Ref Sequence ENSEMBL: ENSMUSP00000150623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099892] [ENSMUST00000217435]
AlphaFold Q7TR75
Predicted Effect probably damaging
Transcript: ENSMUST00000099892
AA Change: D191V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097477
Gene: ENSMUSG00000075187
AA Change: D191V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 8.3e-47 PFAM
Pfam:7tm_1 41 290 1.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217435
AA Change: D191V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 100% (39/39)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T C 2: 35,244,872 (GRCm39) D160G possibly damaging Het
Akr1c6 T C 13: 4,499,035 (GRCm39) S208P probably benign Het
Ap3b2 A G 7: 81,126,943 (GRCm39) F269S probably damaging Het
Ap3d1 G A 10: 80,555,006 (GRCm39) Q440* probably null Het
Cog2 T C 8: 125,256,665 (GRCm39) I137T probably benign Het
Cse1l A G 2: 166,770,917 (GRCm39) Y369C probably damaging Het
Dnah9 T C 11: 65,806,029 (GRCm39) N3357D probably damaging Het
Fam83b T C 9: 76,409,500 (GRCm39) T209A probably damaging Het
Gbp2 G A 3: 142,339,123 (GRCm39) A392T probably benign Het
Grsf1 G A 5: 88,821,695 (GRCm39) T123I probably damaging Het
Gzmc T A 14: 56,470,228 (GRCm39) I90F possibly damaging Het
Hook2 T A 8: 85,717,928 (GRCm39) N42K probably damaging Het
Hsp90aa1 T C 12: 110,658,755 (GRCm39) M629V possibly damaging Het
Ifna14 T C 4: 88,489,863 (GRCm39) D58G possibly damaging Het
Krtap4-8 T C 11: 99,671,103 (GRCm39) probably benign Het
Mocs1 T C 17: 49,759,862 (GRCm39) I381T probably damaging Het
Nbas A G 12: 13,482,946 (GRCm39) T1408A probably damaging Het
Or6c219 A G 10: 129,781,076 (GRCm39) F285S probably benign Het
Orc1 C T 4: 108,459,166 (GRCm39) T445I possibly damaging Het
Pdik1l T C 4: 134,005,710 (GRCm39) K411E probably benign Het
Pias3 A G 3: 96,611,129 (GRCm39) I443V probably benign Het
Psmd2 T C 16: 20,478,222 (GRCm39) S536P possibly damaging Het
Rnf10 C T 5: 115,385,332 (GRCm39) R554H probably benign Het
Smarcc2 C T 10: 128,305,551 (GRCm39) T325I possibly damaging Het
Smchd1 C A 17: 71,667,136 (GRCm39) C1752F probably damaging Het
Smchd1 G A 17: 71,733,431 (GRCm39) probably benign Het
Svil A G 18: 5,060,613 (GRCm39) probably null Het
Tex52 T C 6: 128,356,540 (GRCm39) S78P probably damaging Het
Tmem63c T G 12: 87,103,307 (GRCm39) V27G probably damaging Het
Ttc41 A G 10: 86,549,250 (GRCm39) N148S possibly damaging Het
Vmn2r67 T C 7: 84,785,921 (GRCm39) I695V probably damaging Het
Wipf2 T A 11: 98,789,543 (GRCm39) probably null Het
Zc3h18 A G 8: 123,140,605 (GRCm39) probably benign Het
Zfp804a T A 2: 82,089,013 (GRCm39) N947K possibly damaging Het
Zfyve26 T C 12: 79,329,573 (GRCm39) probably null Het
Zic2 G T 14: 122,716,329 (GRCm39) E422* probably null Het
Zmym4 A T 4: 126,816,929 (GRCm39) D4E 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
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
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'- CACAGTGACAGCCATCATGTGAG -3'
(R):5'- TGATGGCCTATGACCGCTATG -3'

Sequencing Primer
(F):5'- GAAGCACAAGTAGAGAAGGCTTTC -3'
(R):5'- AACCCACTGCTCTACATGGTGG -3'
Posted On 2014-11-11