Incidental Mutation 'R5029:Or8j3b'
ID 391545
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 042620-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R5029 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86204807-86205754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86205234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 174 (I174T)
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: I174T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097477
Gene: ENSMUSG00000075187
AA Change: I174T

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: I174T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 97% (61/63)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,392,127 (GRCm39) M154K probably benign Het
Ank T C 15: 27,590,439 (GRCm39) V341A probably benign Het
Bnip3 T A 7: 138,499,848 (GRCm39) probably benign Het
C1galt1 A G 6: 7,863,931 (GRCm39) K4E possibly damaging Het
Cbs T A 17: 31,834,456 (GRCm39) Q511L possibly damaging Het
Ccdc117 T C 11: 5,484,897 (GRCm39) H109R possibly damaging Het
Cdh4 T A 2: 179,523,742 (GRCm39) V440D possibly damaging Het
Cnot4 T C 6: 35,054,962 (GRCm39) N109S probably damaging Het
Dact2 A T 17: 14,416,114 (GRCm39) S695R probably benign Het
Defa21 A T 8: 21,516,381 (GRCm39) E75V probably damaging Het
Dimt1 A G 13: 107,093,630 (GRCm39) D274G probably null Het
Dstyk G T 1: 132,377,062 (GRCm39) V223L probably benign Het
Dync1h1 T A 12: 110,584,444 (GRCm39) S616T possibly damaging Het
Fer1l6 A T 15: 58,515,769 (GRCm39) I1619F probably benign Het
Gm4744 T A 6: 40,926,341 (GRCm39) Y83F probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hpx T G 7: 105,240,971 (GRCm39) Y434S probably damaging Het
Ints4 A G 7: 97,158,981 (GRCm39) D451G probably benign Het
Itgb4 A T 11: 115,879,417 (GRCm39) probably benign Het
Jph1 T A 1: 17,161,615 (GRCm39) N349I possibly damaging Het
Klrg1 A G 6: 122,259,694 (GRCm39) L26P probably benign Het
M1ap A C 6: 82,980,813 (GRCm39) D233A probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Mycbp2 A G 14: 103,393,946 (GRCm39) S2762P probably benign Het
Myh11 T A 16: 14,023,489 (GRCm39) Q1556L probably damaging Het
N4bp2 A G 5: 65,972,123 (GRCm39) D1428G probably damaging Het
Ndc80 A C 17: 71,815,760 (GRCm39) C342G probably benign Het
Nxn A C 11: 76,165,356 (GRCm39) Y199* probably null Het
Or6c206 T A 10: 129,097,707 (GRCm39) N292K probably benign Het
Or7c19 C T 8: 85,957,835 (GRCm39) A237V probably benign Het
Pacs1 A G 19: 5,192,299 (GRCm39) F691L probably benign Het
Pcdhga12 T C 18: 37,899,864 (GRCm39) V232A probably benign Het
Pik3cb A T 9: 98,936,113 (GRCm39) M773K probably damaging Het
Plxnb1 T C 9: 108,943,723 (GRCm39) Y1937H probably damaging Het
Ppfia2 C A 10: 106,693,304 (GRCm39) T603N probably benign Het
Psg22 A G 7: 18,453,662 (GRCm39) Y119C probably damaging Het
Saraf G T 8: 34,628,412 (GRCm39) R86L probably damaging Het
Sh3bgrl2 T C 9: 83,430,542 (GRCm39) S11P possibly damaging Het
Slc39a4 C T 15: 76,498,283 (GRCm39) D385N probably damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Stpg3 T C 2: 25,104,576 (GRCm39) N13S probably damaging Het
Taf1a T A 1: 183,177,273 (GRCm39) D50E possibly damaging Het
Tlr1 T A 5: 65,083,024 (GRCm39) N518Y probably damaging Het
Tnik G A 3: 28,719,993 (GRCm39) probably null Het
Tomm70a T A 16: 56,942,514 (GRCm39) L97Q probably benign Het
Vmn2r97 T A 17: 19,168,173 (GRCm39) V809E probably damaging Het
Vps13d T C 4: 144,882,852 (GRCm39) I914V probably benign Het
Zfyve26 A T 12: 79,333,097 (GRCm39) H291Q probably damaging Het
Zmynd15 G T 11: 70,353,387 (GRCm39) C334F 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
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
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'- AGCAGAGATCTTTATGCTGGC -3'

Sequencing Primer
(F):5'- CCTTCCTTCAGATGAACGGATC -3'
(R):5'- GCTGTGATGGCCTATGACC -3'
Posted On 2016-06-06