Incidental Mutation 'IGL02279:Or5i1'
ID 289781
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5i1
Ensembl Gene ENSMUSG00000068816
Gene Name olfactory receptor family 5 subfamily I member 1
Synonyms GA_x6K02T2Q125-49283184-49284128, Olfr152, Olfr4-1, V1, MOR181-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.312) question?
Stock # IGL02279
Quality Score
Status
Chromosome 2
Chromosomal Location 87612880-87613830 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87613576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 231 (R231C)
Ref Sequence ENSEMBL: ENSMUSP00000150778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090709] [ENSMUST00000105210] [ENSMUST00000215394]
AlphaFold G3X9L8
Predicted Effect probably damaging
Transcript: ENSMUST00000090709
AA Change: R233C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000088211
Gene: ENSMUSG00000068816
AA Change: R233C

DomainStartEndE-ValueType
Pfam:7tm_4 35 312 4.3e-49 PFAM
Pfam:7tm_1 45 314 7.9e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105210
AA Change: R231C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100845
Gene: ENSMUSG00000068816
AA Change: R231C

DomainStartEndE-ValueType
Pfam:7tm_1 43 292 6.4e-28 PFAM
Pfam:7tm_4 141 285 1.3e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213624
Predicted Effect probably damaging
Transcript: ENSMUST00000215394
AA Change: R231C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 T C 8: 124,681,100 (GRCm39) S699G probably benign Het
Ak2 C T 4: 128,893,030 (GRCm39) A63V probably benign Het
Bckdha T C 7: 25,330,534 (GRCm39) Y354C probably damaging Het
Ess2 T C 16: 17,720,775 (GRCm39) E357G possibly damaging Het
Fmod T A 1: 133,968,235 (GRCm39) C92S probably damaging Het
Gdpd1 T C 11: 86,964,727 (GRCm39) Y26C probably benign Het
Gpr45 T C 1: 43,071,998 (GRCm39) S214P probably damaging Het
Lmod3 A G 6: 97,224,633 (GRCm39) V396A probably damaging Het
Lpcat3 A G 6: 124,675,072 (GRCm39) Y64C probably damaging Het
Nrdc T A 4: 108,881,391 (GRCm39) probably benign Het
Or6n2 T A 1: 173,896,957 (GRCm39) L31Q probably null Het
Or8c16 T C 9: 38,130,389 (GRCm39) V90A probably benign Het
Pcnt T C 10: 76,239,599 (GRCm39) D1296G probably damaging Het
Pitpnm1 T A 19: 4,151,207 (GRCm39) I8N probably damaging Het
Sel1l T C 12: 91,781,771 (GRCm39) N538S probably damaging Het
Srrm2 T G 17: 24,034,306 (GRCm39) probably benign Het
Svs3b G T 2: 164,098,124 (GRCm39) Q66K possibly damaging Het
Ttn T A 2: 76,640,634 (GRCm39) K11959* probably null Het
Other mutations in Or5i1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Or5i1 APN 2 87,612,883 (GRCm39) missense probably benign
IGL01124:Or5i1 APN 2 87,613,720 (GRCm39) missense probably benign 0.01
IGL01383:Or5i1 APN 2 87,613,217 (GRCm39) missense possibly damaging 0.92
IGL01501:Or5i1 APN 2 87,613,480 (GRCm39) missense possibly damaging 0.85
R0141:Or5i1 UTSW 2 87,613,049 (GRCm39) missense possibly damaging 0.74
R0212:Or5i1 UTSW 2 87,613,826 (GRCm39) missense unknown
R0492:Or5i1 UTSW 2 87,613,166 (GRCm39) missense probably damaging 1.00
R1611:Or5i1 UTSW 2 87,612,968 (GRCm39) missense probably benign 0.38
R1697:Or5i1 UTSW 2 87,612,929 (GRCm39) missense possibly damaging 0.95
R3606:Or5i1 UTSW 2 87,613,551 (GRCm39) missense probably benign 0.26
R4583:Or5i1 UTSW 2 87,613,565 (GRCm39) missense possibly damaging 0.76
R4646:Or5i1 UTSW 2 87,613,565 (GRCm39) missense possibly damaging 0.76
R4648:Or5i1 UTSW 2 87,613,565 (GRCm39) missense possibly damaging 0.76
R4853:Or5i1 UTSW 2 87,613,526 (GRCm39) missense probably benign 0.04
R6102:Or5i1 UTSW 2 87,613,192 (GRCm39) missense probably damaging 1.00
R6154:Or5i1 UTSW 2 87,613,100 (GRCm39) missense possibly damaging 0.94
R7637:Or5i1 UTSW 2 87,613,778 (GRCm39) missense probably damaging 1.00
R8306:Or5i1 UTSW 2 87,613,830 (GRCm39) makesense probably null
R9294:Or5i1 UTSW 2 87,612,867 (GRCm39) critical splice acceptor site probably null
R9461:Or5i1 UTSW 2 87,612,883 (GRCm39) missense probably benign
Z1088:Or5i1 UTSW 2 87,612,972 (GRCm39) missense probably damaging 1.00
Z1176:Or5i1 UTSW 2 87,613,368 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16