Incidental Mutation 'IGL02326:Or5j1'
ID 288484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5j1
Ensembl Gene ENSMUSG00000075164
Gene Name olfactory receptor family 5 subfamily J member 1
Synonyms GA_x6K02T2Q125-48541463-48540525, Olfr1106, MOR172-8_p, MOR172-6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL02326
Quality Score
Status
Chromosome 2
Chromosomal Location 86878640-86879578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86879355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 75 (S75L)
Ref Sequence ENSEMBL: ENSMUSP00000149092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099867] [ENSMUST00000213781] [ENSMUST00000217650]
AlphaFold Q7TR57
Predicted Effect possibly damaging
Transcript: ENSMUST00000099867
AA Change: S75L

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097452
Gene: ENSMUSG00000075164
AA Change: S75L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.2e-53 PFAM
Pfam:7tm_1 41 290 1e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213781
AA Change: S75L

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217650
AA Change: S75L

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik T C 3: 121,465,051 (GRCm39) V29A unknown Het
Abcc8 C A 7: 45,772,281 (GRCm39) probably null Het
Ankar A T 1: 72,705,514 (GRCm39) I614N probably damaging Het
Ash1l G A 3: 88,873,364 (GRCm39) R49H probably benign Het
Atp8b1 T C 18: 64,671,654 (GRCm39) H1123R probably damaging Het
Casp12 T C 9: 5,358,317 (GRCm39) Y375H possibly damaging Het
Cbl A G 9: 44,062,770 (GRCm39) I861T possibly damaging Het
Cdh20 T C 1: 104,902,764 (GRCm39) L485P probably damaging Het
Cobl A T 11: 12,336,712 (GRCm39) N25K possibly damaging Het
Col14a1 T C 15: 55,282,193 (GRCm39) V818A unknown Het
Csmd3 G A 15: 47,619,359 (GRCm39) probably benign Het
Dpp6 A G 5: 27,869,755 (GRCm39) Y509C probably damaging Het
Fabp2 C T 3: 122,692,395 (GRCm39) R96C probably damaging Het
Fam53a T C 5: 33,757,938 (GRCm39) D395G probably damaging Het
Gabrb1 T A 5: 71,858,190 (GRCm39) I72K probably damaging Het
Hmcn2 G A 2: 31,340,964 (GRCm39) S4479N probably damaging Het
Hrnr C T 3: 93,231,052 (GRCm39) T430I unknown Het
Ighv1-53 T A 12: 115,122,235 (GRCm39) T47S probably benign Het
Ilk C A 7: 105,390,840 (GRCm39) P261Q probably damaging Het
Ints10 T G 8: 69,257,485 (GRCm39) D228E probably damaging Het
Kcnq5 A T 1: 21,472,816 (GRCm39) S782R probably benign Het
Map3k4 A G 17: 12,467,897 (GRCm39) S1046P probably damaging Het
Musk C T 4: 58,354,113 (GRCm39) P374S probably benign Het
Or52e18 T A 7: 104,609,853 (GRCm39) I29F probably benign Het
Or5b108 C A 19: 13,168,779 (GRCm39) Y249* probably null Het
Or5w19 T A 2: 87,699,019 (GRCm39) I228N probably damaging Het
Pkd2 T C 5: 104,624,941 (GRCm39) Y246H probably benign Het
Plekha5 G T 6: 140,529,576 (GRCm39) G340* probably null Het
Plxna4 T A 6: 32,129,840 (GRCm39) M1828L probably damaging Het
Prex1 A G 2: 166,463,105 (GRCm39) I252T probably benign Het
Pura A G 18: 36,420,831 (GRCm39) D206G probably damaging Het
Rad54b T A 4: 11,612,713 (GRCm39) F782I probably damaging Het
Rbp4 T C 19: 38,112,563 (GRCm39) D90G probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Scn7a C A 2: 66,530,392 (GRCm39) R651L probably benign Het
Sh2d3c A T 2: 32,639,163 (GRCm39) probably null Het
Slc43a1 T G 2: 84,680,115 (GRCm39) L87R probably damaging Het
Sppl2c A G 11: 104,078,099 (GRCm39) T300A probably benign Het
Srgap2 T A 1: 131,284,645 (GRCm39) probably null Het
Tkt G A 14: 30,294,182 (GRCm39) V531M probably damaging Het
Twsg1 T C 17: 66,233,431 (GRCm39) D173G possibly damaging Het
Ugt2b37 G T 5: 87,388,861 (GRCm39) H451N probably benign Het
Ugt2b38 C T 5: 87,571,592 (GRCm39) D147N probably damaging Het
Vmn1r15 T C 6: 57,235,255 (GRCm39) I41T probably benign Het
Vwa5a A T 9: 38,649,252 (GRCm39) T667S probably benign Het
Xrn2 A G 2: 146,889,633 (GRCm39) E672G probably benign Het
Zfp235 T A 7: 23,834,727 (GRCm39) M1K probably null Het
Zmym1 T C 4: 126,941,553 (GRCm39) E847G probably damaging Het
Other mutations in Or5j1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Or5j1 APN 2 86,878,632 (GRCm39) utr 3 prime probably benign
IGL03087:Or5j1 APN 2 86,879,356 (GRCm39) missense possibly damaging 0.90
R0040:Or5j1 UTSW 2 86,879,548 (GRCm39) missense probably damaging 1.00
R0256:Or5j1 UTSW 2 86,879,400 (GRCm39) missense probably damaging 1.00
R0487:Or5j1 UTSW 2 86,878,837 (GRCm39) missense probably damaging 0.96
R0730:Or5j1 UTSW 2 86,879,492 (GRCm39) missense probably benign 0.00
R1978:Or5j1 UTSW 2 86,879,179 (GRCm39) missense possibly damaging 0.83
R5335:Or5j1 UTSW 2 86,879,509 (GRCm39) missense probably damaging 1.00
R6611:Or5j1 UTSW 2 86,879,577 (GRCm39) start codon destroyed probably null 1.00
R6681:Or5j1 UTSW 2 86,878,942 (GRCm39) missense probably benign 0.22
R7322:Or5j1 UTSW 2 86,878,823 (GRCm39) nonsense probably null
R7584:Or5j1 UTSW 2 86,879,478 (GRCm39) missense probably benign 0.19
R7731:Or5j1 UTSW 2 86,879,578 (GRCm39) start codon destroyed probably null 0.99
R8011:Or5j1 UTSW 2 86,879,190 (GRCm39) missense probably damaging 1.00
R8959:Or5j1 UTSW 2 86,879,551 (GRCm39) missense possibly damaging 0.94
R9102:Or5j1 UTSW 2 86,879,171 (GRCm39) missense possibly damaging 0.71
Z1088:Or5j1 UTSW 2 86,878,777 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16