Incidental Mutation 'IGL02157:Or13a22'
ID 282261
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or13a22
Ensembl Gene ENSMUSG00000063230
Gene Name olfactory receptor family 13 subfamily A member 22
Synonyms Olfr535, GA_x6K02T2PBJ9-42641642-42642574, MOR253-7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL02157
Quality Score
Status
Chromosome 7
Chromosomal Location 140072553-140073491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140072847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 99 (C99S)
Ref Sequence ENSEMBL: ENSMUSP00000149412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074897] [ENSMUST00000213715] [ENSMUST00000214296] [ENSMUST00000216585] [ENSMUST00000217235] [ENSMUST00000217580]
AlphaFold Q8VGL3
Predicted Effect probably damaging
Transcript: ENSMUST00000074897
AA Change: C99S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074435
Gene: ENSMUSG00000063230
AA Change: C99S

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 4.5e-50 PFAM
Pfam:7TM_GPCR_Srsx 37 183 1.1e-8 PFAM
Pfam:7tm_1 43 292 5.8e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213339
Predicted Effect probably damaging
Transcript: ENSMUST00000213715
AA Change: C99S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214296
AA Change: C99S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216585
AA Change: C99S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216962
Predicted Effect probably damaging
Transcript: ENSMUST00000217235
AA Change: C99S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217580
AA Change: C99S

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,855,487 (GRCm39) probably benign Het
Amotl1 A T 9: 14,483,011 (GRCm39) probably benign Het
Amph A T 13: 19,288,401 (GRCm39) T297S possibly damaging Het
Arhgap31 A G 16: 38,444,263 (GRCm39) V198A probably damaging Het
Bop1 T C 15: 76,339,772 (GRCm39) D216G possibly damaging Het
Cdh13 T C 8: 119,232,410 (GRCm39) I38T possibly damaging Het
Clmn T C 12: 104,748,177 (GRCm39) T457A probably benign Het
Clstn2 A C 9: 97,423,928 (GRCm39) M279R probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Fam83h A T 15: 75,876,904 (GRCm39) V208E probably damaging Het
Fer A G 17: 64,445,894 (GRCm39) N785S probably benign Het
Fnip1 T C 11: 54,378,589 (GRCm39) L225P probably damaging Het
Gbp11 C T 5: 105,475,374 (GRCm39) V325M possibly damaging Het
Glis1 A G 4: 107,484,758 (GRCm39) T418A probably benign Het
Hook2 C T 8: 85,727,779 (GRCm39) probably benign Het
Hoxa6 C A 6: 52,185,171 (GRCm39) C145F possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mbd5 T C 2: 49,168,987 (GRCm39) V1156A probably benign Het
Mon2 G A 10: 122,849,377 (GRCm39) P1308S probably damaging Het
Mta2 T A 19: 8,924,613 (GRCm39) probably benign Het
Nup188 T A 2: 30,219,385 (GRCm39) L867* probably null Het
Oca2 G A 7: 55,974,545 (GRCm39) probably null Het
Or6c88 A G 10: 129,407,019 (GRCm39) E165G probably damaging Het
Or7e166 T A 9: 19,624,585 (GRCm39) V154E probably benign Het
Plekhh2 A G 17: 84,874,370 (GRCm39) probably benign Het
Pramel22 A T 4: 143,380,947 (GRCm39) C359S probably damaging Het
Rhbdd3 T C 11: 5,055,424 (GRCm39) probably benign Het
Timeless T A 10: 128,078,255 (GRCm39) V255E probably benign Het
Tmt1b T G 10: 128,796,486 (GRCm39) T108P possibly damaging Het
Trh A T 6: 92,219,948 (GRCm39) S123T probably benign Het
Ugdh C T 5: 65,580,035 (GRCm39) A252T probably damaging Het
Zfp619 A G 7: 39,184,288 (GRCm39) Y106C probably damaging Het
Zic5 G A 14: 122,696,924 (GRCm39) P564S unknown Het
Other mutations in Or13a22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Or13a22 APN 7 140,072,614 (GRCm39) missense probably benign 0.00
IGL01537:Or13a22 APN 7 140,072,751 (GRCm39) missense probably damaging 1.00
IGL01639:Or13a22 APN 7 140,073,099 (GRCm39) missense probably benign 0.09
IGL02593:Or13a22 APN 7 140,073,244 (GRCm39) missense probably benign 0.04
IGL03108:Or13a22 APN 7 140,073,034 (GRCm39) missense possibly damaging 0.50
R1835:Or13a22 UTSW 7 140,072,622 (GRCm39) missense probably benign
R2040:Or13a22 UTSW 7 140,073,295 (GRCm39) missense probably benign 0.10
R3125:Or13a22 UTSW 7 140,072,764 (GRCm39) missense probably benign 0.01
R4795:Or13a22 UTSW 7 140,072,920 (GRCm39) missense probably damaging 1.00
R6187:Or13a22 UTSW 7 140,072,529 (GRCm39) start gained probably benign
R6285:Or13a22 UTSW 7 140,072,626 (GRCm39) missense possibly damaging 0.71
R6528:Or13a22 UTSW 7 140,072,964 (GRCm39) missense probably damaging 1.00
R7016:Or13a22 UTSW 7 140,073,153 (GRCm39) missense probably benign 0.01
R7573:Or13a22 UTSW 7 140,072,912 (GRCm39) missense probably damaging 1.00
R7867:Or13a22 UTSW 7 140,073,049 (GRCm39) missense probably benign 0.00
R8506:Or13a22 UTSW 7 140,073,336 (GRCm39) missense probably benign
R8822:Or13a22 UTSW 7 140,072,926 (GRCm39) missense possibly damaging 0.93
R9315:Or13a22 UTSW 7 140,072,935 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16