Incidental Mutation 'IGL02676:Or9g20'
ID 303121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or9g20
Ensembl Gene ENSMUSG00000075209
Gene Name olfactory receptor family 9 subfamily G member 20
Synonyms MOR213-9, Olfr1016, GA_x6K02T2Q125-47278889-47277960
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL02676
Quality Score
Status
Chromosome 2
Chromosomal Location 85629683-85630612 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85629934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 227 (I227V)
Ref Sequence ENSEMBL: ENSMUSP00000149631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099915] [ENSMUST00000216425] [ENSMUST00000217410]
AlphaFold A2ASV2
Predicted Effect possibly damaging
Transcript: ENSMUST00000099915
AA Change: I227V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097499
Gene: ENSMUSG00000075209
AA Change: I227V

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 9.8e-51 PFAM
Pfam:7tm_1 40 289 8.1e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216425
AA Change: I227V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217410
AA Change: I227V

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
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
Apc G A 18: 34,448,687 (GRCm39) S1827N probably damaging Het
Atrnl1 T A 19: 57,680,316 (GRCm39) C739S probably damaging Het
Cep350 T C 1: 155,737,977 (GRCm39) E2622G possibly damaging Het
Chd5 C T 4: 152,440,530 (GRCm39) probably benign Het
Chst11 T A 10: 83,027,563 (GRCm39) L330Q probably damaging Het
Clcnka A T 4: 141,120,094 (GRCm39) V275E probably damaging Het
Clip4 G A 17: 72,135,616 (GRCm39) S456N probably damaging Het
Cmya5 A T 13: 93,229,361 (GRCm39) I1909N probably damaging Het
Cyp26b1 A G 6: 84,553,626 (GRCm39) I176T probably damaging Het
Dst A G 1: 34,346,668 (GRCm39) R7717G probably damaging Het
Eml2 C T 7: 18,918,846 (GRCm39) R99* probably null Het
Fibin T C 2: 110,192,929 (GRCm39) Q71R probably benign Het
Fsip2 T G 2: 82,812,501 (GRCm39) I2940S possibly damaging Het
Gabrb3 G T 7: 57,241,112 (GRCm39) probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Gm6483 C T 8: 19,743,675 (GRCm39) noncoding transcript Het
Hdgfl1 G A 13: 26,953,348 (GRCm39) R242C possibly damaging Het
Hmcn1 T C 1: 150,494,760 (GRCm39) T4110A probably benign Het
Lama2 T G 10: 26,994,489 (GRCm39) M1807L probably benign Het
Larp4 T C 15: 99,888,302 (GRCm39) V113A possibly damaging Het
Mkx T C 18: 7,000,640 (GRCm39) T101A probably benign Het
Nfe2l1 A G 11: 96,718,491 (GRCm39) F15L probably damaging Het
Nherf2 A T 17: 24,860,930 (GRCm39) V204E probably damaging Het
Nif3l1 G A 1: 58,494,895 (GRCm39) probably null Het
Nop14 A G 5: 34,796,565 (GRCm39) V764A probably damaging Het
Nosip C A 7: 44,726,752 (GRCm39) A259E probably damaging Het
Ntn5 T C 7: 45,341,300 (GRCm39) probably benign Het
Phospho1 G A 11: 95,721,714 (GRCm39) G128D probably damaging Het
Ppp4r3a G A 12: 101,008,770 (GRCm39) T703M probably benign Het
Pramel21 T C 4: 143,342,667 (GRCm39) F258S possibly damaging Het
Pramel58 A G 5: 94,831,730 (GRCm39) T246A possibly damaging Het
Prdm8 G A 5: 98,334,418 (GRCm39) E662K probably damaging Het
Ralgapa1 A G 12: 55,723,202 (GRCm39) S1775P probably damaging Het
Rapgef6 T C 11: 54,540,172 (GRCm39) probably benign Het
Rasef T C 4: 73,677,966 (GRCm39) T87A possibly damaging Het
Scrn3 A G 2: 73,160,215 (GRCm39) Q286R probably benign Het
Sema3d A T 5: 12,620,945 (GRCm39) Q517L probably benign Het
Taf6l T C 19: 8,752,413 (GRCm39) Y425C probably damaging Het
Tbk1 T C 10: 121,403,985 (GRCm39) N254S possibly damaging Het
Tcf3 C T 10: 80,256,925 (GRCm39) G64R probably damaging Het
Tmco4 T C 4: 138,750,380 (GRCm39) probably null Het
Trappc11 A G 8: 47,946,448 (GRCm39) probably benign Het
Vmn1r19 A T 6: 57,382,025 (GRCm39) I193F possibly damaging Het
Vmn2r14 G A 5: 109,367,882 (GRCm39) T370I probably benign Het
Vmn2r65 T A 7: 84,589,381 (GRCm39) H845L possibly damaging Het
Vmn2r98 A T 17: 19,285,521 (GRCm39) T114S probably benign Het
Zfp280d A T 9: 72,242,356 (GRCm39) R661S probably damaging Het
Zranb1 T C 7: 132,568,410 (GRCm39) I356T probably benign Het
Other mutations in Or9g20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01907:Or9g20 APN 2 85,629,946 (GRCm39) missense probably benign 0.01
R0279:Or9g20 UTSW 2 85,629,879 (GRCm39) missense possibly damaging 0.80
R2982:Or9g20 UTSW 2 85,629,694 (GRCm39) missense probably benign 0.12
R3708:Or9g20 UTSW 2 85,630,342 (GRCm39) missense probably benign 0.17
R4014:Or9g20 UTSW 2 85,629,820 (GRCm39) missense probably damaging 0.99
R4193:Or9g20 UTSW 2 85,630,362 (GRCm39) missense probably benign 0.39
R4593:Or9g20 UTSW 2 85,630,008 (GRCm39) missense probably damaging 1.00
R4772:Or9g20 UTSW 2 85,630,338 (GRCm39) missense probably damaging 1.00
R4816:Or9g20 UTSW 2 85,630,391 (GRCm39) missense probably benign
R4864:Or9g20 UTSW 2 85,630,033 (GRCm39) missense probably damaging 1.00
R5382:Or9g20 UTSW 2 85,630,492 (GRCm39) missense probably damaging 1.00
R5886:Or9g20 UTSW 2 85,630,147 (GRCm39) missense probably damaging 0.96
R6004:Or9g20 UTSW 2 85,629,726 (GRCm39) missense probably damaging 1.00
R7833:Or9g20 UTSW 2 85,630,293 (GRCm39) missense probably benign 0.20
R7953:Or9g20 UTSW 2 85,630,239 (GRCm39) missense probably damaging 1.00
R8113:Or9g20 UTSW 2 85,630,011 (GRCm39) missense probably damaging 1.00
R9034:Or9g20 UTSW 2 85,630,302 (GRCm39) missense possibly damaging 0.77
R9763:Or9g20 UTSW 2 85,630,060 (GRCm39) missense possibly damaging 0.76
Posted On 2015-04-16