Incidental Mutation 'IGL01350:Or8j3'
ID 75323
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8j3
Ensembl Gene ENSMUSG00000075198
Gene Name olfactory receptor family 8 subfamily J member 3
Synonyms Olfr28, MTPCR11, GA_x6K02T2Q125-47672825-47671878, Olfr1045, MOR185-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL01350
Quality Score
Status
Chromosome 2
Chromosomal Location 86028147-86029094 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 86028149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 316 (*316Q)
Ref Sequence ENSEMBL: ENSMUSP00000148982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099904] [ENSMUST00000215763]
AlphaFold Q7TR80
Predicted Effect probably null
Transcript: ENSMUST00000099904
AA Change: *316Q
SMART Domains Protein: ENSMUSP00000097488
Gene: ENSMUSG00000075198
AA Change: *316Q

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.2e-43 PFAM
Pfam:7tm_1 41 290 5.7e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000215763
AA Change: *316Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216885
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,187,208 (GRCm39) I926T probably benign Het
Adam39 T A 8: 41,278,876 (GRCm39) C422* probably null Het
Aldh1l1 A G 6: 90,536,338 (GRCm39) N81S probably damaging Het
Amd1 A T 10: 40,166,186 (GRCm39) Y264* probably null Het
Axl T C 7: 25,458,175 (GRCm39) Y851C probably damaging Het
Ccdc70 T C 8: 22,463,690 (GRCm39) L160P probably damaging Het
Cd2ap A T 17: 43,136,812 (GRCm39) Y273* probably null Het
Cyb5rl T C 4: 106,941,409 (GRCm39) V278A possibly damaging Het
Cyp2c29 T C 19: 39,318,771 (GRCm39) F417S probably damaging Het
Dnah7b C A 1: 46,120,592 (GRCm39) probably benign Het
Epha4 A T 1: 77,483,492 (GRCm39) D172E probably damaging Het
Eya4 T A 10: 22,989,873 (GRCm39) I495F possibly damaging Het
Gpr150 A T 13: 76,204,542 (GRCm39) H134Q probably benign Het
Gpr153 T G 4: 152,366,423 (GRCm39) probably benign Het
Hipk2 A G 6: 38,795,250 (GRCm39) Y333H probably damaging Het
Jakmip1 T C 5: 37,242,775 (GRCm39) M21T probably benign Het
Kcnh3 A T 15: 99,139,873 (GRCm39) I920F probably benign Het
Lrp2 G A 2: 69,341,328 (GRCm39) R951C probably damaging Het
Msi1 A G 5: 115,573,580 (GRCm39) K126R possibly damaging Het
Nkx2-6 T A 14: 69,412,222 (GRCm39) F130Y probably damaging Het
Onecut2 T A 18: 64,474,160 (GRCm39) L218Q probably damaging Het
Or12j4 G T 7: 140,046,292 (GRCm39) M59I probably damaging Het
Or5p6 T C 7: 107,630,887 (GRCm39) Y221C probably damaging Het
Pah T A 10: 87,414,221 (GRCm39) probably benign Het
Per2 C T 1: 91,358,583 (GRCm39) E602K probably damaging Het
Plb1 C T 5: 32,474,408 (GRCm39) T623M probably damaging Het
Prkaa2 T C 4: 104,909,109 (GRCm39) probably null Het
Prl7b1 T A 13: 27,786,804 (GRCm39) T142S probably damaging Het
Psd3 T C 8: 68,173,544 (GRCm39) H1090R probably damaging Het
Siglecf G T 7: 43,005,319 (GRCm39) probably benign Het
Tas2r118 A G 6: 23,969,746 (GRCm39) V105A probably damaging Het
Thnsl1 T C 2: 21,217,011 (GRCm39) V255A probably benign Het
Tmprss5 T A 9: 49,020,757 (GRCm39) *84K probably null Het
Trrap C T 5: 144,767,779 (GRCm39) L2579F possibly damaging Het
Vdac1 A G 11: 52,276,489 (GRCm39) T211A probably benign Het
Vmn1r16 A T 6: 57,299,716 (GRCm39) V302D possibly damaging Het
Wdr75 T A 1: 45,857,420 (GRCm39) C572* probably null Het
Xpc A G 6: 91,476,993 (GRCm39) S369P probably benign Het
Zdhhc20 A G 14: 58,111,444 (GRCm39) V52A probably benign Het
Zfp977 T C 7: 42,230,090 (GRCm39) Y145C probably damaging Het
Other mutations in Or8j3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01914:Or8j3 APN 2 86,029,016 (GRCm39) missense probably benign 0.45
IGL01991:Or8j3 APN 2 86,028,877 (GRCm39) missense probably benign 0.23
IGL02623:Or8j3 APN 2 86,028,363 (GRCm39) missense probably damaging 1.00
R0325:Or8j3 UTSW 2 86,029,055 (GRCm39) missense possibly damaging 0.51
R0730:Or8j3 UTSW 2 86,029,069 (GRCm39) missense probably benign 0.14
R1457:Or8j3 UTSW 2 86,028,596 (GRCm39) missense probably damaging 0.99
R2037:Or8j3 UTSW 2 86,028,176 (GRCm39) missense probably benign
R2121:Or8j3 UTSW 2 86,028,340 (GRCm39) missense possibly damaging 0.88
R2271:Or8j3 UTSW 2 86,028,161 (GRCm39) missense probably benign 0.00
R3836:Or8j3 UTSW 2 86,029,006 (GRCm39) missense probably benign 0.02
R4669:Or8j3 UTSW 2 86,028,277 (GRCm39) missense possibly damaging 0.90
R6082:Or8j3 UTSW 2 86,028,661 (GRCm39) missense probably damaging 0.97
R7326:Or8j3 UTSW 2 86,028,917 (GRCm39) missense probably damaging 1.00
R7463:Or8j3 UTSW 2 86,028,182 (GRCm39) missense probably benign
R7523:Or8j3 UTSW 2 86,028,389 (GRCm39) missense probably damaging 0.99
R7842:Or8j3 UTSW 2 86,028,516 (GRCm39) nonsense probably null
R7919:Or8j3 UTSW 2 86,028,609 (GRCm39) nonsense probably null
R9763:Or8j3 UTSW 2 86,028,181 (GRCm39) missense probably benign 0.10
Posted On 2013-10-07