Incidental Mutation 'IGL01991:Or8j3'
ID 182853
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 # IGL01991
Quality Score
Status
Chromosome 2
Chromosomal Location 86028147-86029094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86028877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 73 (N73S)
Ref Sequence ENSEMBL: ENSMUSP00000148982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099904] [ENSMUST00000215763]
AlphaFold Q7TR80
Predicted Effect probably benign
Transcript: ENSMUST00000099904
AA Change: N73S

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097488
Gene: ENSMUSG00000075198
AA Change: N73S

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.2e-43 PFAM
Pfam:7tm_1 41 290 5.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215763
AA Change: N73S

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
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
1700034J05Rik A T 6: 146,854,608 (GRCm39) F145I probably benign Het
Acot7 A G 4: 152,307,536 (GRCm39) K152E possibly damaging Het
Adamts13 G T 2: 26,880,610 (GRCm39) G731V probably damaging Het
Als2cl C T 9: 110,721,985 (GRCm39) R584C probably benign Het
Apba1 T A 19: 23,914,836 (GRCm39) S679T possibly damaging Het
Asxl3 G A 18: 22,649,219 (GRCm39) V403I probably damaging Het
Card11 T C 5: 140,899,133 (GRCm39) T14A possibly damaging Het
Creb1 T C 1: 64,598,913 (GRCm39) F97L probably benign Het
Crispld1 T A 1: 17,823,241 (GRCm39) H407Q probably benign Het
Crtac1 A T 19: 42,402,560 (GRCm39) L16Q possibly damaging Het
Cyp2c29 T C 19: 39,318,759 (GRCm39) I452T probably damaging Het
Dennd5b A T 6: 148,982,322 (GRCm39) D95E probably damaging Het
Dysf C T 6: 84,090,600 (GRCm39) P1002L probably damaging Het
Gm6878 G A 14: 67,543,678 (GRCm39) probably benign Het
Greb1 T C 12: 16,749,682 (GRCm39) Y1048C probably damaging Het
Iqcc T A 4: 129,511,582 (GRCm39) E105V probably benign Het
Lhx8 A G 3: 154,030,191 (GRCm39) L116P probably damaging Het
Lrrk2 A G 15: 91,664,149 (GRCm39) D1962G probably damaging Het
Map1b T A 13: 99,566,077 (GRCm39) M2215L unknown Het
Mapk8ip3 A T 17: 25,146,835 (GRCm39) L136Q possibly damaging Het
Mical3 T C 6: 120,912,172 (GRCm39) N1896D probably damaging Het
Mprip A G 11: 59,645,838 (GRCm39) E674G probably damaging Het
Or6b13 C T 7: 139,782,345 (GRCm39) E113K probably damaging Het
Pdzrn4 T A 15: 92,299,807 (GRCm39) probably null Het
Pramel41 A T 5: 94,593,705 (GRCm39) Q10L probably benign Het
Prom1 T C 5: 44,204,848 (GRCm39) T209A probably benign Het
Prom2 C A 2: 127,371,142 (GRCm39) C785F probably damaging Het
Psg20 T C 7: 18,418,350 (GRCm39) Q139R probably benign Het
Rapgef6 T A 11: 54,443,695 (GRCm39) C93S probably benign Het
Rassf2 C T 2: 131,842,352 (GRCm39) probably null Het
Scn11a A G 9: 119,648,970 (GRCm39) I31T probably damaging Het
Slc4a5 A T 6: 83,240,525 (GRCm39) D164V possibly damaging Het
Slco3a1 T C 7: 73,934,144 (GRCm39) D676G possibly damaging Het
Tmcc2 T C 1: 132,288,830 (GRCm39) I208V probably benign Het
Traf4 T C 11: 78,050,872 (GRCm39) D428G possibly damaging Het
Trio T C 15: 27,871,360 (GRCm39) I586V possibly damaging Het
Unc80 T A 1: 66,508,668 (GRCm39) C46* probably null Het
Vmn2r89 A G 14: 51,689,676 (GRCm39) N60D probably benign Het
Wscd1 A T 11: 71,678,549 (GRCm39) K391* probably null Het
Wwc2 A T 8: 48,322,901 (GRCm39) L400* probably null Het
Other mutations in Or8j3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Or8j3 APN 2 86,028,149 (GRCm39) makesense probably null
IGL01914:Or8j3 APN 2 86,029,016 (GRCm39) missense probably benign 0.45
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 2014-05-07