Incidental Mutation 'IGL02393:Olfr808'
ID293881
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr808
Ensembl Gene ENSMUSG00000049894
Gene Nameolfactory receptor 808
SynonymsGA_x6K02T2PULF-11446184-11447122, MOR112-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL02393
Quality Score
Status
Chromosome10
Chromosomal Location129765482-129771713 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 129767793 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 99 (V99E)
Ref Sequence ENSEMBL: ENSMUSP00000145315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060636] [ENSMUST00000203236]
Predicted Effect probably benign
Transcript: ENSMUST00000060636
AA Change: V99E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000059714
Gene: ENSMUSG00000049894
AA Change: V99E

DomainStartEndE-ValueType
Pfam:7tm_4 29 308 1.8e-53 PFAM
Pfam:7tm_1 39 288 7.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203236
AA Change: V99E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000145315
Gene: ENSMUSG00000049894
AA Change: V99E

DomainStartEndE-ValueType
Pfam:7tm_4 29 308 1.8e-53 PFAM
Pfam:7tm_1 39 288 7.7e-25 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik A G 1: 105,687,368 I253M probably damaging Het
Adam32 A T 8: 24,920,053 Y129N probably damaging Het
Afap1l2 T C 19: 56,914,440 K695R probably damaging Het
Arhgap18 T G 10: 26,877,183 S357R probably benign Het
Camsap1 T C 2: 25,938,322 H1130R probably benign Het
Cdkl4 A G 17: 80,560,415 F35L probably damaging Het
Crnn A G 3: 93,149,368 H487R probably damaging Het
Dcaf4 C T 12: 83,530,031 P95L probably damaging Het
Deaf1 A T 7: 141,313,333 V382E possibly damaging Het
Dph7 T G 2: 24,966,597 V187G possibly damaging Het
Fat3 G T 9: 15,988,412 C3108* probably null Het
Ggt5 T C 10: 75,610,237 probably benign Het
Kif26a G A 12: 112,172,664 V396M probably damaging Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mterf4 C T 1: 93,302,879 V182I possibly damaging Het
Nsg1 T C 5: 38,158,911 D32G probably damaging Het
Olfr175-ps1 A G 16: 58,824,046 I221T probably damaging Het
Olfr788 T C 10: 129,473,195 S168P probably damaging Het
P3h2 T C 16: 25,992,825 Y216C probably damaging Het
Pdzd9 A C 7: 120,662,983 Y85* probably null Het
Prkdc T A 16: 15,816,758 V3589D probably benign Het
Qars A G 9: 108,514,329 T26A probably benign Het
Rhd T C 4: 134,884,095 S189P probably benign Het
Rhobtb1 A T 10: 69,288,987 H555L probably damaging Het
Rogdi G A 16: 5,009,224 S306F probably benign Het
Slc25a25 C T 2: 32,417,843 V259I probably benign Het
Srrm1 A T 4: 135,321,414 probably benign Het
Stkld1 T C 2: 26,950,142 V408A probably benign Het
Thbs1 T C 2: 118,123,099 V999A possibly damaging Het
Tmprss11d T A 5: 86,303,612 *280L probably null Het
Trim54 A G 5: 31,131,980 probably benign Het
Tspear G A 10: 77,836,573 R202H probably damaging Het
Vwa8 G A 14: 79,182,977 G1706D probably damaging Het
Other mutations in Olfr808
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Olfr808 APN 10 129767586 missense probably null 0.99
IGL01313:Olfr808 APN 10 129767595 missense probably damaging 1.00
IGL01923:Olfr808 APN 10 129768104 missense probably benign 0.01
IGL02010:Olfr808 APN 10 129768267 missense probably benign 0.07
IGL03026:Olfr808 APN 10 129768041 missense probably benign 0.00
R1181:Olfr808 UTSW 10 129768164 missense probably benign 0.09
R1760:Olfr808 UTSW 10 129767548 missense probably benign 0.06
R1844:Olfr808 UTSW 10 129767856 missense probably benign 0.03
R2697:Olfr808 UTSW 10 129767924 missense probably benign 0.09
R3025:Olfr808 UTSW 10 129767673 missense probably damaging 1.00
R3414:Olfr808 UTSW 10 129768432 missense probably benign
R5824:Olfr808 UTSW 10 129768381 missense probably damaging 1.00
R6260:Olfr808 UTSW 10 129767520 missense probably benign 0.00
R6723:Olfr808 UTSW 10 129768415 missense probably benign 0.38
R6758:Olfr808 UTSW 10 129768051 missense probably damaging 0.97
R7305:Olfr808 UTSW 10 129767851 nonsense probably null
R7422:Olfr808 UTSW 10 129768267 missense possibly damaging 0.95
Posted On2015-04-16