Incidental Mutation 'IGL01639:Or13a22'
ID 92919
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: 0.090) question?
Stock # IGL01639
Quality Score
Status
Chromosome 7
Chromosomal Location 140072553-140073491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140073099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 183 (I183V)
Ref Sequence ENSEMBL: ENSMUSP00000149412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074897] [ENSMUST00000213715] [ENSMUST00000214296] [ENSMUST00000216585] [ENSMUST00000217235] [ENSMUST00000217580]
AlphaFold Q8VGL3
Predicted Effect probably benign
Transcript: ENSMUST00000074897
AA Change: I183V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000074435
Gene: ENSMUSG00000063230
AA Change: I183V

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 benign
Transcript: ENSMUST00000213715
AA Change: I183V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000214296
AA Change: I183V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000216585
AA Change: I183V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216962
Predicted Effect probably benign
Transcript: ENSMUST00000217235
AA Change: I183V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000217580
AA Change: I183V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Calm4 T A 13: 3,888,302 (GRCm39) V136E probably damaging Het
Cnot8 A T 11: 58,002,188 (GRCm39) I74F probably damaging Het
Coq7 A T 7: 118,124,527 (GRCm39) V213D probably damaging Het
Itgae A G 11: 73,010,204 (GRCm39) T565A probably benign Het
Lgi3 A G 14: 70,770,825 (GRCm39) I155V probably benign Het
Mbd5 A G 2: 49,162,320 (GRCm39) N42S probably damaging Het
Nherf4 T A 9: 44,159,976 (GRCm39) E381D probably benign Het
Or2l13 T C 16: 19,305,914 (GRCm39) S109P probably damaging Het
Pals2 T C 6: 50,155,460 (GRCm39) I261T probably damaging Het
Pcnx1 T C 12: 81,997,094 (GRCm39) probably null Het
Plekhg1 A G 10: 3,906,751 (GRCm39) E556G probably damaging Het
Rab1a T C 11: 20,173,185 (GRCm39) probably benign Het
Rfx6 A T 10: 51,592,002 (GRCm39) R133* probably null Het
Spata31d1c T C 13: 65,183,903 (GRCm39) S482P probably damaging Het
Spire1 C A 18: 67,678,738 (GRCm39) A68S possibly damaging Het
Tmc1 G A 19: 20,793,556 (GRCm39) T535M probably damaging Het
Trip10 T A 17: 57,561,165 (GRCm39) probably benign Het
Trp53bp1 A C 2: 121,033,173 (GRCm39) V1711G possibly damaging Het
Ubr4 G T 4: 139,144,655 (GRCm39) R1488L probably damaging Het
Vmn2r84 A T 10: 130,225,141 (GRCm39) Y456* probably null Het
Zc3h7a T C 16: 10,959,572 (GRCm39) S794G possibly damaging Het
Zeb2 C T 2: 44,887,269 (GRCm39) S581N probably benign Het
Zfp292 G A 4: 34,809,048 (GRCm39) P1332L probably benign Het
Zfp641 A G 15: 98,189,066 (GRCm39) I131T possibly damaging 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
IGL02157:Or13a22 APN 7 140,072,847 (GRCm39) missense probably damaging 1.00
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 2013-12-09