Incidental Mutation 'IGL03229:Olfr294'
ID413801
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: 0.093) question?
Stock #IGL03229
Quality Score
Status
Chromosome7
Chromosomal Location86615636-86616643 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86616078 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 189 (D189G)
Ref Sequence ENSEMBL: ENSMUSP00000077662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078588]
Predicted Effect probably benign
Transcript: ENSMUST00000078588
AA Change: D189G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000077662
Gene: ENSMUSG00000062042
AA Change: D189G

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,940,936 I832T probably damaging Het
Adcyap1r1 T C 6: 55,478,123 S124P probably damaging Het
Coq4 A G 2: 29,788,485 D41G probably benign Het
Cpb1 A T 3: 20,249,837 Y354* probably null Het
Dip2b T C 15: 100,207,838 probably benign Het
Dmxl2 C T 9: 54,404,172 R1755H probably damaging Het
Dyrk4 G T 6: 126,886,642 probably benign Het
E2f7 T C 10: 110,754,346 V120A probably benign Het
Fsip2 A T 2: 82,978,076 I1580F possibly damaging Het
Gm7030 C T 17: 36,127,722 G259E probably damaging Het
Gm9755 C A 8: 67,514,672 noncoding transcript Het
Gprc6a T G 10: 51,616,603 N480T probably damaging Het
Hdlbp T C 1: 93,430,187 I331V probably benign Het
Heatr6 G T 11: 83,781,445 G1093V probably benign Het
Hist2h2ac C T 3: 96,220,637 A70T probably damaging Het
Kri1 T C 9: 21,282,070 E162G probably damaging Het
Nckipsd T C 9: 108,811,614 V116A probably benign Het
Nek10 A G 14: 14,986,686 H997R probably benign Het
Nov A G 15: 54,749,308 T238A probably benign Het
Nxph1 A G 6: 9,247,830 Y267C probably damaging Het
Olfr1090 A T 2: 86,754,016 C241S probably damaging Het
Ppip5k2 A T 1: 97,728,961 V829E probably damaging Het
Prkcz A C 4: 155,262,506 S573A probably benign Het
Prl2c1 T A 13: 27,856,629 probably benign Het
Rgs22 T A 15: 36,015,779 probably benign Het
Scn1a T A 2: 66,299,713 I1253F probably damaging Het
Tarm1 A G 7: 3,496,897 C146R probably damaging Het
Tor2a A T 2: 32,759,692 I189F probably damaging Het
Trappc9 A T 15: 73,058,456 L17Q probably damaging Het
Trim45 T A 3: 100,923,069 L53Q probably damaging Het
Ubr7 T C 12: 102,769,155 L291P probably damaging Het
Unc79 T C 12: 103,134,539 V1878A probably damaging Het
Wdr90 T C 17: 25,845,463 probably benign Het
Xpnpep1 T C 19: 53,025,380 H42R probably benign Het
Zfp750 G A 11: 121,512,952 H366Y possibly damaging Het
Zmynd11 A G 13: 9,689,565 C462R probably damaging Het
Other mutations in Olfr294
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01365:Olfr294 APN 7 86615997 missense probably damaging 1.00
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
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
R7624:Olfr294 UTSW 7 86616561 missense possibly damaging 0.47
R8422:Olfr294 UTSW 7 86616258 missense probably benign 0.13
Posted On2016-08-02