Incidental Mutation 'IGL02253:Olfr494'
ID286485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr494
Ensembl Gene ENSMUSG00000109631
Gene Nameolfactory receptor 494
SynonymsMOR204-10, GA_x6K02T2PBJ9-10697517-10698461
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.157) question?
Stock #IGL02253
Quality Score
Status
Chromosome7
Chromosomal Location108365335-108368436 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 108368054 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 188 (V188E)
Ref Sequence ENSEMBL: ENSMUSP00000147830 (fasta)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209743
AA Change: V188E

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210291
AA Change: V188E

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,207,959 E76G probably benign Het
Adamtsl2 A T 2: 27,098,697 T587S possibly damaging Het
Adgre4 T A 17: 55,760,573 M9K probably benign Het
Aff2 T A X: 69,830,791 V447E probably benign Het
Arhgef10l G T 4: 140,544,284 S425* probably null Het
Cabcoco1 T C 10: 68,436,277 probably null Het
Calcr T A 6: 3,707,523 H259L probably benign Het
Cdc42bpa T A 1: 180,031,596 probably benign Het
Cntnap5b C T 1: 100,164,211 H540Y possibly damaging Het
Cyp2a22 A T 7: 26,938,237 probably benign Het
Ddx3x T C X: 13,284,968 probably benign Het
Dnajc11 T A 4: 151,950,519 Y28* probably null Het
Dock11 T C X: 36,041,128 F1472S probably damaging Het
Dusp18 T C 11: 3,897,576 *189Q probably null Het
Dzip3 A T 16: 48,944,924 Y476N probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Evc2 T A 5: 37,378,427 probably benign Het
Fam151b A T 13: 92,477,927 Y18N probably damaging Het
Gk5 T C 9: 96,137,771 F120S probably damaging Het
Gm17359 C A 3: 79,449,434 probably benign Het
Gm17359 C A 3: 79,449,435 probably benign Het
Kcna3 T C 3: 107,037,411 L330P probably damaging Het
Kctd20 A G 17: 28,961,486 N7S probably benign Het
Kmt2b G T 7: 30,581,727 R1276S probably damaging Het
Kmt2d C T 15: 98,858,175 probably benign Het
L2hgdh G A 12: 69,705,760 probably benign Het
Lifr T G 15: 7,190,604 V905G probably damaging Het
Mcm3ap T A 10: 76,470,065 V4E probably benign Het
Nrip3 A C 7: 109,761,744 probably null Het
Nsun2 T G 13: 69,619,539 V204G possibly damaging Het
Nup54 A G 5: 92,417,451 probably null Het
Olfr894 T A 9: 38,219,735 M304K probably benign Het
Pdcl3 A G 1: 38,994,930 D51G probably benign Het
Pdlim1 T C 19: 40,230,530 E219G probably damaging Het
Pld4 A C 12: 112,766,707 K239T probably damaging Het
Rgsl1 T C 1: 153,793,767 Y291C probably damaging Het
Rnf213 C A 11: 119,440,650 H2228Q probably benign Het
Rnf222 T A 11: 68,893,036 I143N probably damaging Het
Sirt7 A G 11: 120,620,867 I13T probably benign Het
Slfn10-ps A G 11: 83,029,064 noncoding transcript Het
Slx4ip T C 2: 137,000,275 probably null Het
Spata18 G T 5: 73,668,596 S164I possibly damaging Het
Ssfa2 A G 2: 79,660,444 T969A probably damaging Het
Stk26 T C X: 50,886,688 L212P probably damaging Het
Tmsb15a T C X: 135,719,702 I56V probably benign Het
Tnrc6b T A 15: 80,876,541 S150T probably damaging Het
Tubb3 T C 8: 123,420,820 M164T probably benign Het
Zfp516 A G 18: 82,994,497 D1125G probably benign Het
Zyg11a A C 4: 108,183,695 V685G probably null Het
Other mutations in Olfr494
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:Olfr494 APN 7 108368318 missense probably damaging 1.00
IGL01934:Olfr494 APN 7 108368161 missense probably damaging 0.99
IGL02041:Olfr494 APN 7 108367535 missense probably damaging 1.00
IGL02902:Olfr494 APN 7 108368129 missense probably damaging 1.00
R0125:Olfr494 UTSW 7 108368369 missense probably damaging 0.98
R0523:Olfr494 UTSW 7 108368231 missense probably damaging 1.00
R0650:Olfr494 UTSW 7 108367789 missense probably damaging 1.00
R1268:Olfr494 UTSW 7 108367795 missense probably benign 0.06
R2036:Olfr494 UTSW 7 108367740 missense probably benign 0.00
R2162:Olfr494 UTSW 7 108367562 missense probably benign 0.08
R2278:Olfr494 UTSW 7 108368081 missense probably benign 0.01
R2368:Olfr494 UTSW 7 108368369 missense probably damaging 0.98
R3410:Olfr494 UTSW 7 108368344 missense possibly damaging 0.52
R3411:Olfr494 UTSW 7 108368344 missense possibly damaging 0.52
R3834:Olfr494 UTSW 7 108368072 missense probably damaging 0.98
R4322:Olfr494 UTSW 7 108368348 missense probably damaging 1.00
R4625:Olfr494 UTSW 7 108367688 missense probably damaging 0.98
R4724:Olfr494 UTSW 7 108367998 missense probably benign
R4843:Olfr494 UTSW 7 108368143 missense probably benign 0.01
R5525:Olfr494 UTSW 7 108367999 missense probably benign
R5954:Olfr494 UTSW 7 108367601 missense probably damaging 0.98
R7027:Olfr494 UTSW 7 108368350 missense probably damaging 0.98
R8041:Olfr494 UTSW 7 108367534 missense probably damaging 1.00
R8237:Olfr494 UTSW 7 108368027 missense probably damaging 1.00
Z1177:Olfr494 UTSW 7 108368261 missense probably damaging 1.00
Posted On2015-04-16