Incidental Mutation 'IGL02317:Or13j1'
ID 288084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or13j1
Ensembl Gene ENSMUSG00000046450
Gene Name olfactory receptor family 13 subfamily J member 1
Synonyms MOR262-4, Olfr71, mOR17, GA_x6K02T2N78B-16230286-16231224
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL02317
Quality Score
Status
Chromosome 4
Chromosomal Location 43705628-43706566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43706172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 132 (Y132C)
Ref Sequence ENSEMBL: ENSMUSP00000149725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055401] [ENSMUST00000107862] [ENSMUST00000217544]
AlphaFold Q9QZ18
Predicted Effect probably damaging
Transcript: ENSMUST00000055401
AA Change: Y132C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060230
Gene: ENSMUSG00000046450
AA Change: Y132C

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 2.4e-34 PFAM
Pfam:7tm_4 139 283 4.5e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107862
AA Change: Y132C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103494
Gene: ENSMUSG00000046450
AA Change: Y132C

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 2.2e-52 PFAM
Pfam:7tm_1 41 290 7.5e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217544
AA Change: Y132C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,013,780 (GRCm39) noncoding transcript Het
Aadacl2fm3 A G 3: 59,784,408 (GRCm39) N294D probably benign Het
Aak1 C T 6: 86,933,282 (GRCm39) P418S possibly damaging Het
Abca5 T A 11: 110,218,587 (GRCm39) Q93L probably benign Het
Arhgap22 G T 14: 33,081,230 (GRCm39) V209L probably damaging Het
Atp6v1h G T 1: 5,154,693 (GRCm39) R7L possibly damaging Het
Ccdc86 T C 19: 10,920,556 (GRCm39) Q420R possibly damaging Het
Cep85 C T 4: 133,883,122 (GRCm39) G256R probably damaging Het
Csmd2 T C 4: 128,357,520 (GRCm39) probably benign Het
Dck T C 5: 88,921,942 (GRCm39) Y135H probably damaging Het
Dicer1 T C 12: 104,663,279 (GRCm39) E1434G probably damaging Het
Dst C T 1: 34,334,244 (GRCm39) T4824I probably damaging Het
Fam20c G A 5: 138,792,115 (GRCm39) R404H probably damaging Het
Fat1 G A 8: 45,478,855 (GRCm39) A2611T probably benign Het
Fbxl13 C T 5: 21,727,232 (GRCm39) C555Y probably benign Het
Gprc6a C A 10: 51,497,049 (GRCm39) R323L probably benign Het
Grik2 A G 10: 49,298,711 (GRCm39) F50L probably benign Het
Ibsp A G 5: 104,450,332 (GRCm39) Y50C probably damaging Het
Il16 T A 7: 83,316,097 (GRCm39) H437L probably damaging Het
Irf9 G A 14: 55,845,196 (GRCm39) R352H probably damaging Het
Jph1 T C 1: 17,074,147 (GRCm39) T624A probably benign Het
Lama5 T C 2: 179,833,112 (GRCm39) Y1574C probably damaging Het
Lrrc26 A G 2: 25,180,314 (GRCm39) N105S probably damaging Het
Megf8 C A 7: 25,063,213 (GRCm39) T2523K probably damaging Het
Nckap1l A G 15: 103,370,005 (GRCm39) I135V probably benign Het
Oma1 A G 4: 103,176,234 (GRCm39) probably benign Het
Opa1 T G 16: 29,433,984 (GRCm39) probably null Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or5m3b T C 2: 85,871,913 (GRCm39) S85P probably damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Rab11b C T 17: 33,968,790 (GRCm39) A43T probably damaging Het
Rabl2 A T 15: 89,468,492 (GRCm39) N133K probably damaging Het
Scn10a C T 9: 119,467,621 (GRCm39) V840I probably benign Het
Spata31d1b T C 13: 59,865,854 (GRCm39) S1001P probably damaging Het
Tbc1d8 T C 1: 39,415,985 (GRCm39) E896G probably benign Het
Ube2o T C 11: 116,432,389 (GRCm39) E859G probably damaging Het
Vmn1r197 A G 13: 22,512,073 (GRCm39) probably benign Het
Vmn2r58 A G 7: 41,486,765 (GRCm39) I710T possibly damaging Het
Zmynd8 T C 2: 165,662,492 (GRCm39) T533A possibly damaging Het
Other mutations in Or13j1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4453001:Or13j1 UTSW 4 43,706,464 (GRCm39) missense probably damaging 1.00
R0597:Or13j1 UTSW 4 43,706,592 (GRCm39) splice site probably null
R0610:Or13j1 UTSW 4 43,706,400 (GRCm39) missense possibly damaging 0.69
R1588:Or13j1 UTSW 4 43,705,923 (GRCm39) missense probably damaging 0.98
R1619:Or13j1 UTSW 4 43,706,292 (GRCm39) missense probably damaging 1.00
R1779:Or13j1 UTSW 4 43,706,041 (GRCm39) missense probably damaging 1.00
R2871:Or13j1 UTSW 4 43,706,458 (GRCm39) missense probably benign 0.30
R2871:Or13j1 UTSW 4 43,706,458 (GRCm39) missense probably benign 0.30
R4723:Or13j1 UTSW 4 43,705,785 (GRCm39) missense probably damaging 1.00
R4891:Or13j1 UTSW 4 43,706,194 (GRCm39) missense probably damaging 0.99
R5049:Or13j1 UTSW 4 43,706,259 (GRCm39) missense probably damaging 1.00
R5151:Or13j1 UTSW 4 43,706,518 (GRCm39) missense probably damaging 0.99
R5491:Or13j1 UTSW 4 43,705,990 (GRCm39) missense probably damaging 1.00
R5521:Or13j1 UTSW 4 43,705,788 (GRCm39) missense possibly damaging 0.88
R6225:Or13j1 UTSW 4 43,705,698 (GRCm39) missense probably damaging 1.00
R6518:Or13j1 UTSW 4 43,706,334 (GRCm39) missense probably benign 0.05
R6883:Or13j1 UTSW 4 43,705,723 (GRCm39) missense possibly damaging 0.93
R7185:Or13j1 UTSW 4 43,706,082 (GRCm39) missense possibly damaging 0.82
R7339:Or13j1 UTSW 4 43,706,080 (GRCm39) missense probably benign 0.05
R7502:Or13j1 UTSW 4 43,706,316 (GRCm39) missense probably damaging 0.97
R8052:Or13j1 UTSW 4 43,705,884 (GRCm39) missense probably damaging 0.97
R8797:Or13j1 UTSW 4 43,706,455 (GRCm39) missense probably damaging 1.00
R9701:Or13j1 UTSW 4 43,705,793 (GRCm39) missense probably benign 0.00
X0017:Or13j1 UTSW 4 43,705,990 (GRCm39) missense probably damaging 1.00
X0021:Or13j1 UTSW 4 43,706,326 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16