Incidental Mutation 'IGL02623:Or8j3'
ID 300956
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 # IGL02623
Quality Score
Status
Chromosome 2
Chromosomal Location 86028147-86029094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86028363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 244 (H244Q)
Ref Sequence ENSEMBL: ENSMUSP00000148982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099904] [ENSMUST00000215763]
AlphaFold Q7TR80
Predicted Effect probably damaging
Transcript: ENSMUST00000099904
AA Change: H244Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097488
Gene: ENSMUSG00000075198
AA Change: H244Q

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.2e-43 PFAM
Pfam:7tm_1 41 290 5.7e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215763
AA Change: H244Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,853,032 (GRCm39) I35F probably benign Het
Acad10 A G 5: 121,767,993 (GRCm39) V819A possibly damaging Het
Adgrd1 A T 5: 129,209,809 (GRCm39) N279Y probably damaging Het
Aplp2 C A 9: 31,089,379 (GRCm39) probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
B3gnt5 A G 16: 19,588,360 (GRCm39) D193G probably damaging Het
Cacng1 A G 11: 107,595,145 (GRCm39) F144S probably damaging Het
Cfap91 T A 16: 38,154,140 (GRCm39) D135V possibly damaging Het
Dnm3 T A 1: 162,183,001 (GRCm39) T105S probably damaging Het
Efcab6 T A 15: 83,763,649 (GRCm39) I1228F probably damaging Het
Erc2 A G 14: 27,498,937 (GRCm39) D271G probably damaging Het
Fat3 T C 9: 15,908,433 (GRCm39) Y2523C probably damaging Het
Fhl4 A G 10: 84,934,035 (GRCm39) F249L probably damaging Het
Gm17782 T C 17: 36,472,958 (GRCm39) probably benign Het
Gm4787 A G 12: 81,425,502 (GRCm39) Y219H probably damaging Het
Hk1 A G 10: 62,128,138 (GRCm39) L328P probably benign Het
Hspa12a T A 19: 58,797,983 (GRCm39) Y245F probably benign Het
Kbtbd12 T C 6: 88,595,371 (GRCm39) Y153C probably damaging Het
Kcnd2 A T 6: 21,726,194 (GRCm39) R562S probably benign Het
Lct T C 1: 128,235,988 (GRCm39) S340G probably benign Het
Mettl25 C A 10: 105,662,185 (GRCm39) G262W probably damaging Het
Mindy3 G A 2: 12,369,294 (GRCm39) Q142* probably null Het
Optn T C 2: 5,039,833 (GRCm39) E318G probably damaging Het
Pan2 T C 10: 128,148,768 (GRCm39) S443P probably benign Het
Parva A G 7: 112,175,646 (GRCm39) D259G probably damaging Het
Pkhd1l1 T A 15: 44,448,269 (GRCm39) L3816Q probably damaging Het
Polq T C 16: 36,880,737 (GRCm39) F967S probably benign Het
Prdm16 T C 4: 154,425,334 (GRCm39) N817S probably damaging Het
Ptprt C A 2: 161,449,372 (GRCm39) probably benign Het
Rbbp8nl T A 2: 179,923,236 (GRCm39) S154C probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slit1 T C 19: 41,640,122 (GRCm39) I169V probably damaging Het
Smyd4 G T 11: 75,280,890 (GRCm39) probably benign Het
Tial1 A G 7: 128,045,607 (GRCm39) Y326H probably benign Het
Tmem198b A G 10: 128,638,320 (GRCm39) L81P probably damaging Het
Tmem94 T A 11: 115,687,227 (GRCm39) C1115* probably null Het
Tns3 A G 11: 8,387,141 (GRCm39) S1349P probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zfp106 A T 2: 120,376,395 (GRCm39) probably null Het
Zfp119b T C 17: 56,246,793 (GRCm39) E99G probably damaging Het
Zfp462 T A 4: 55,012,986 (GRCm39) C503S probably damaging Het
Zfyve19 G A 2: 119,042,496 (GRCm39) probably null Het
Zxdc G T 6: 90,359,352 (GRCm39) K661N probably damaging 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
IGL01991:Or8j3 APN 2 86,028,877 (GRCm39) missense probably benign 0.23
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 2015-04-16