Incidental Mutation 'IGL02403:Or8j3b'
ID 291954
Institutional Source Australian Phenomics Network (link to record)
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: 0.101) question?
Stock # IGL02403
Quality Score
Status
Chromosome 2
Chromosomal Location 86204807-86205754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86204867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 296 (D296E)
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: D296E

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097477
Gene: ENSMUSG00000075187
AA Change: D296E

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: D296E

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,755,227 (GRCm39) probably null Het
Alk C A 17: 72,208,388 (GRCm39) G944V probably damaging Het
Alox15 T C 11: 70,236,727 (GRCm39) D446G probably damaging Het
Apof A G 10: 128,105,353 (GRCm39) probably null Het
Arhgap28 T G 17: 68,180,154 (GRCm39) D81A possibly damaging Het
Bltp1 T C 3: 37,084,813 (GRCm39) S3922P probably benign Het
Bms1 T C 6: 118,382,185 (GRCm39) E451G possibly damaging Het
C9orf72 A G 4: 35,205,887 (GRCm39) probably benign Het
Capn13 T A 17: 73,658,421 (GRCm39) T216S possibly damaging Het
Ccdc28a A T 10: 18,089,931 (GRCm39) probably benign Het
Cdip1 T C 16: 4,586,676 (GRCm39) T150A probably damaging Het
Chrnb3 T A 8: 27,883,836 (GRCm39) L191Q probably damaging Het
Chst2 G A 9: 95,287,285 (GRCm39) Q354* probably null Het
Cldn11 T C 3: 31,204,345 (GRCm39) V16A probably benign Het
Cyp4f18 A G 8: 72,752,072 (GRCm39) M198T probably damaging Het
Dhx30 A G 9: 109,920,587 (GRCm39) L280P probably damaging Het
Disc1 A G 8: 125,862,258 (GRCm39) probably benign Het
Dnm1l T C 16: 16,154,840 (GRCm39) I172V possibly damaging Het
Edem2 T C 2: 155,550,983 (GRCm39) D328G possibly damaging Het
Fbxo10 G A 4: 45,062,517 (GRCm39) T3M probably benign Het
Fdxacb1 T A 9: 50,682,863 (GRCm39) S275R possibly damaging Het
Gm7275 C A 16: 47,893,991 (GRCm39) noncoding transcript Het
Helz2 A T 2: 180,872,815 (GRCm39) I2468N probably damaging Het
Ift46 C A 9: 44,698,176 (GRCm39) P213Q probably damaging Het
Ift56 A G 6: 38,386,373 (GRCm39) M365V possibly damaging Het
Irf2 G T 8: 47,299,207 (GRCm39) V334F probably damaging Het
Lrp4 T A 2: 91,338,927 (GRCm39) V1786E probably benign Het
Mfsd5 A G 15: 102,188,973 (GRCm39) Y115C probably benign Het
Muc5ac A G 7: 141,357,187 (GRCm39) R1154G possibly damaging Het
Nek4 G T 14: 30,686,008 (GRCm39) E314* probably null Het
Oas2 C T 5: 120,886,815 (GRCm39) G117D possibly damaging Het
Pikfyve C T 1: 65,283,663 (GRCm39) H767Y probably damaging Het
Pkhd1 T C 1: 20,632,642 (GRCm39) H591R probably benign Het
Pygl T A 12: 70,241,032 (GRCm39) I672F probably benign Het
Rft1 G T 14: 30,382,278 (GRCm39) probably benign Het
Ripor3 A C 2: 167,831,250 (GRCm39) L517R probably damaging Het
Serpina3b A G 12: 104,096,721 (GRCm39) M1V probably null Het
Sgce C T 6: 4,694,059 (GRCm39) R263Q probably damaging Het
Stard6 A T 18: 70,629,183 (GRCm39) probably null Het
Them4 T C 3: 94,230,978 (GRCm39) F117L probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Vmn2r116 G T 17: 23,606,338 (GRCm39) D417Y probably damaging Het
Other mutations in Or8j3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16