Incidental Mutation 'IGL01365:Olfr294'
ID75900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr294
Ensembl Gene ENSMUSG00000062042
Gene Nameolfactory receptor 294
SynonymsGA_x6K02T2NHDJ-9504525-9505532, MOR219-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL01365
Quality Score
Status
Chromosome7
Chromosomal Location86615636-86616643 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86615997 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 216 (Y216C)
Ref Sequence ENSEMBL: ENSMUSP00000077662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078588]
Predicted Effect probably damaging
Transcript: ENSMUST00000078588
AA Change: Y216C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077662
Gene: ENSMUSG00000062042
AA Change: Y216C

DomainStartEndE-ValueType
Pfam:7tm_4 29 309 1.2e-38 PFAM
Pfam:7tm_1 39 288 1.8e-22 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 G T 8: 83,723,889 probably null Het
Agtr1a A G 13: 30,381,828 Y292C probably damaging Het
Btbd11 T C 10: 85,633,816 V867A possibly damaging Het
CK137956 A G 4: 127,951,342 S203P probably benign Het
Cnbd1 C T 4: 18,860,576 G390D probably damaging Het
Cttnbp2nl T C 3: 105,005,030 T513A probably damaging Het
Dppa2 A G 16: 48,313,913 K67R possibly damaging Het
Kif3a A G 11: 53,593,523 K486E possibly damaging Het
Lmnb2 G T 10: 80,904,984 Q151K probably benign Het
Lmtk3 T A 7: 45,790,907 L223Q probably damaging Het
Lrrk1 A G 7: 66,287,701 I901T probably damaging Het
Macf1 T C 4: 123,391,169 Y3624C probably damaging Het
Mios T A 6: 8,216,089 Y428* probably null Het
Myb A G 10: 21,152,502 I154T probably benign Het
Parp9 C T 16: 35,947,954 T168I possibly damaging Het
Pramel7 T C 2: 87,491,413 probably benign Het
Ptar1 T A 19: 23,705,801 W140R probably damaging Het
Sec14l2 G T 11: 4,098,317 D400E probably benign Het
Setd3 A T 12: 108,157,906 Y175N probably damaging Het
Slc5a8 C T 10: 88,892,097 probably benign Het
Slc8a3 A G 12: 81,315,376 V223A probably damaging Het
Srsf1 G T 11: 88,049,181 R173L possibly damaging Het
Svep1 T A 4: 58,100,878 probably null Het
Tead2 T A 7: 45,217,251 D11E probably damaging Het
Trappc12 T A 12: 28,747,402 I44F probably damaging Het
Ttll9 T C 2: 153,000,134 Y303H possibly damaging Het
Vmn1r28 T A 6: 58,265,191 N6K possibly damaging Het
Other mutations in Olfr294
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02617:Olfr294 APN 7 86615664 missense probably benign 0.14
IGL02694:Olfr294 APN 7 86616310 missense probably benign 0.00
IGL02828:Olfr294 APN 7 86616069 missense possibly damaging 0.67
IGL03229:Olfr294 APN 7 86616078 missense probably benign 0.00
IGL03351:Olfr294 APN 7 86615677 missense possibly damaging 0.68
PIT4802001:Olfr294 UTSW 7 86616555 missense probably null 1.00
R0848:Olfr294 UTSW 7 86615640 missense probably damaging 0.96
R1448:Olfr294 UTSW 7 86616361 missense probably damaging 1.00
R1720:Olfr294 UTSW 7 86616456 missense probably damaging 1.00
R1734:Olfr294 UTSW 7 86616217 missense probably benign 0.07
R1959:Olfr294 UTSW 7 86616431 missense probably benign 0.00
R2116:Olfr294 UTSW 7 86616078 missense probably benign 0.00
R2518:Olfr294 UTSW 7 86616187 missense probably benign 0.03
R3034:Olfr294 UTSW 7 86615762 missense possibly damaging 0.50
R3110:Olfr294 UTSW 7 86615676 missense probably benign
R3112:Olfr294 UTSW 7 86615676 missense probably benign
R3690:Olfr294 UTSW 7 86616478 missense probably damaging 1.00
R4612:Olfr294 UTSW 7 86615736 missense probably benign 0.00
R6476:Olfr294 UTSW 7 86616010 missense probably benign 0.04
R6895:Olfr294 UTSW 7 86616115 missense probably damaging 1.00
R7102:Olfr294 UTSW 7 86616267 missense probably benign 0.25
R7104:Olfr294 UTSW 7 86615692 missense probably null 0.07
R7179:Olfr294 UTSW 7 86616366 missense possibly damaging 0.76
R7256:Olfr294 UTSW 7 86615665 missense probably benign 0.03
Posted On2013-10-07