Incidental Mutation 'R0993:Or8j3b'
ID 97820
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 039113-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R0993 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 86204807-86205754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 86205222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 178 (Y178S)
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: Y178S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097477
Gene: ENSMUSG00000075187
AA Change: Y178S

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: Y178S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.0%
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Eml5 T C 12: 98,827,442 (GRCm39) E596G probably benign Het
Eri3 C A 4: 117,421,860 (GRCm39) T46K possibly damaging Het
Etv1 C T 12: 38,877,863 (GRCm39) P68S probably damaging Het
Fbxl8 C A 8: 105,993,717 (GRCm39) D24E probably damaging Het
Gm19965 A T 1: 116,749,555 (GRCm39) N412I probably benign Het
Lmbr1 T A 5: 29,492,391 (GRCm39) H66L probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Polr1has TCACCACCACCACCACCACCACCAC TCACCACCACCACCACCACCAC 17: 37,275,939 (GRCm39) probably benign Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Samd8 T A 14: 21,825,563 (GRCm39) V173D probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Slc2a9 T A 5: 38,539,406 (GRCm39) T365S probably damaging Het
Slc32a1 T C 2: 158,453,340 (GRCm39) M60T possibly damaging Het
Slx4 T C 16: 3,803,689 (GRCm39) S1042G probably benign Het
Stard9 T C 2: 120,535,650 (GRCm39) L193P probably damaging Het
Tln1 T C 4: 43,549,825 (GRCm39) K529E probably benign Het
Vps13d G A 4: 144,844,262 (GRCm39) R1342* probably null 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
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
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'- AGTGTGCCATAGAACACAGTGACAG -3'
(R):5'- TACTACGAATGTGCCACGCAGC -3'

Sequencing Primer
(F):5'- TAGAACACAGTGACAGCCATC -3'
(R):5'- GATGGCCTATGACCGCTATGTC -3'
Posted On 2014-01-05