Incidental Mutation 'R4605:Or8j3b'
ID 345958
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 # R4605 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 86204807-86205754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86205141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 205 (T205I)
Ref Sequence ENSEMBL: ENSMUSP00000150623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099892] [ENSMUST00000217435]
AlphaFold Q7TR75
Predicted Effect probably benign
Transcript: ENSMUST00000099892
AA Change: T205I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000097477
Gene: ENSMUSG00000075187
AA Change: T205I

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 8.3e-47 PFAM
Pfam:7tm_1 41 290 1.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217435
AA Change: T205I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankra2 A G 13: 98,402,742 (GRCm39) probably benign Het
Atp9b T A 18: 80,796,364 (GRCm39) probably null Het
Birc6 G A 17: 74,946,929 (GRCm39) D2885N probably damaging Het
Chaf1b A T 16: 93,684,977 (GRCm39) N142I possibly damaging Het
Ckap5 G A 2: 91,406,559 (GRCm39) G787S probably damaging Het
Ctc1 G T 11: 68,920,552 (GRCm39) C372F possibly damaging Het
Dip2b A G 15: 100,107,517 (GRCm39) T1176A probably benign Het
Epha10 A G 4: 124,779,550 (GRCm39) E132G probably damaging Het
Extl1 A G 4: 134,087,145 (GRCm39) V471A probably benign Het
Fgd6 T C 10: 93,880,217 (GRCm39) L357P probably benign Het
Gapvd1 A T 2: 34,618,549 (GRCm39) C275S probably damaging Het
Kcnj2 G A 11: 110,963,676 (GRCm39) C356Y probably damaging Het
Kcnk10 T C 12: 98,456,219 (GRCm39) D204G probably damaging Het
Krtap9-1 A C 11: 99,764,579 (GRCm39) E105A unknown Het
Loxhd1 G A 18: 77,493,642 (GRCm39) V668I probably benign Het
Ly86 T C 13: 37,558,987 (GRCm39) I62T possibly damaging Het
Maip1 A G 1: 57,450,891 (GRCm39) I178V probably benign Het
Mical3 G A 6: 121,011,041 (GRCm39) Q386* probably null Het
Or5an11 T C 19: 12,246,532 (GRCm39) *313Q probably null Het
Or5b107 T A 19: 13,142,612 (GRCm39) V78D probably damaging Het
Or5p52 A C 7: 107,502,445 (GRCm39) I174L probably benign Het
Pcdha12 T C 18: 37,154,576 (GRCm39) S432P probably damaging Het
Prex1 A T 2: 166,555,464 (GRCm39) Y59N probably benign Het
Sbf1 A G 15: 89,187,684 (GRCm39) F654L probably damaging Het
Sh2d5 T A 4: 137,984,566 (GRCm39) Y187* probably null Het
Slc9a4 T C 1: 40,640,195 (GRCm39) probably null Het
Smyd2 A G 1: 189,629,623 (GRCm39) S136P probably damaging Het
Spata31e2 T C 1: 26,722,267 (GRCm39) K971R probably benign Het
Srsf11 A T 3: 157,728,560 (GRCm39) L115* probably null Het
Tbx19 C T 1: 164,981,153 (GRCm39) V114I possibly damaging Het
Unc5b A G 10: 60,610,182 (GRCm39) V545A probably benign Het
Ush2a A G 1: 188,642,998 (GRCm39) Y4120C probably damaging Het
Vps13a T C 19: 16,617,403 (GRCm39) T3002A probably damaging Het
Zkscan2 A T 7: 123,097,947 (GRCm39) W150R 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
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
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'- AGTCCGTGGTTGTAGATACATG -3'
(R):5'- CAACCCACTGCTCTACATGG -3'

Sequencing Primer
(F):5'- TCCGTGGTTGTAGATACATGAAGAG -3'
(R):5'- CCACTGCTCTACATGGTGGTG -3'
Posted On 2015-09-25