Incidental Mutation 'IGL01909:Olfr813'
ID179745
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr813
Ensembl Gene ENSMUSG00000052818
Gene Nameolfactory receptor 813
SynonymsMOR108-3, GA_x6K02T2PULF-11535078-11536010
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #IGL01909
Quality Score
Status
Chromosome10
Chromosomal Location129855367-129858722 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 129857081 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 188 (T188S)
Ref Sequence ENSEMBL: ENSMUSP00000145260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064893] [ENSMUST00000204622]
Predicted Effect probably damaging
Transcript: ENSMUST00000064893
AA Change: T188S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063431
Gene: ENSMUSG00000052818
AA Change: T188S

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.2e-49 PFAM
Pfam:7tm_1 39 288 3.9e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204622
AA Change: T188S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145260
Gene: ENSMUSG00000052818
AA Change: T188S

DomainStartEndE-ValueType
Pfam:7tm_4 44 321 3.5e-49 PFAM
Pfam:7tm_1 54 303 1.3e-21 PFAM
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700111E14Rik A T 6: 36,937,217 probably benign Het
Actn2 A T 13: 12,309,593 probably null Het
Apom C T 17: 35,131,232 A78T probably benign Het
Bambi A G 18: 3,508,229 Y7C possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cdc42bpb T C 12: 111,323,142 M418V probably benign Het
Clptm1 T C 7: 19,655,776 N43D probably benign Het
Cspp1 T C 1: 10,066,661 V241A probably benign Het
Ctnna3 T A 10: 63,504,131 I32N probably benign Het
Elp2 A G 18: 24,619,519 probably benign Het
Frmd4a A G 2: 4,604,033 D893G probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
H2-M10.1 C A 17: 36,325,079 G154* probably null Het
Igdcc3 C T 9: 65,144,537 R141W probably damaging Het
Igkv14-130 A G 6: 67,791,339 K60E possibly damaging Het
Kcnmb2 A G 3: 32,198,363 probably benign Het
Lrp4 T C 2: 91,494,184 L1288P possibly damaging Het
Mavs T A 2: 131,245,521 M313K probably benign Het
Mia2 A G 12: 59,107,945 E148G possibly damaging Het
Olfr26 T A 9: 38,855,717 Y218* probably null Het
Olfr875 T A 9: 37,772,863 I68K possibly damaging Het
Plekha3 C T 2: 76,686,703 T133M probably damaging Het
Plxna1 A T 6: 89,332,084 probably null Het
Sept2 A G 1: 93,499,101 N144S probably damaging Het
Slc9a4 T C 1: 40,612,291 probably benign Het
Slco1b2 T A 6: 141,648,586 I59K probably damaging Het
Tnrc6b A G 15: 80,901,983 S1243G possibly damaging Het
Unc13a T A 8: 71,639,210 probably benign Het
Vmn2r105 T C 17: 20,224,656 R525G probably damaging Het
Vmn2r37 T A 7: 9,216,033 K451* probably null Het
Vmn2r71 C T 7: 85,620,793 T504I probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp668 A T 7: 127,866,822 C397S probably damaging Het
Other mutations in Olfr813
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Olfr813 APN 10 129856628 missense probably benign 0.00
IGL01650:Olfr813 APN 10 129857067 missense probably damaging 1.00
IGL01734:Olfr813 APN 10 129856802 missense probably benign 0.36
R0256:Olfr813 UTSW 10 129857037 missense probably damaging 1.00
R0607:Olfr813 UTSW 10 129857201 missense possibly damaging 0.67
R0924:Olfr813 UTSW 10 129856646 missense probably damaging 1.00
R1345:Olfr813 UTSW 10 129856890 missense probably damaging 1.00
R1462:Olfr813 UTSW 10 129857231 missense probably damaging 0.98
R1462:Olfr813 UTSW 10 129857231 missense probably damaging 0.98
R2344:Olfr813 UTSW 10 129856541 missense probably benign 0.01
R3851:Olfr813 UTSW 10 129857147 missense probably benign 0.00
R4486:Olfr813 UTSW 10 129856698 missense probably damaging 1.00
R4934:Olfr813 UTSW 10 129857027 missense possibly damaging 0.91
R5397:Olfr813 UTSW 10 129856710 missense probably damaging 1.00
R5644:Olfr813 UTSW 10 129857427 missense probably benign 0.38
R5925:Olfr813 UTSW 10 129856875 missense probably damaging 1.00
R6224:Olfr813 UTSW 10 129857192 missense probably benign 0.17
Posted On2014-05-07