Incidental Mutation 'IGL00156:Olfr1243'
ID1870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1243
Ensembl Gene ENSMUSG00000075084
Gene Nameolfactory receptor 1243
SynonymsGA_x6K02T2Q125-50972538-50971621, MOR231-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL00156
Quality Score
Status
Chromosome2
Chromosomal Location89525889-89531487 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 89528207 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 68 (D68N)
Ref Sequence ENSEMBL: ENSMUSP00000149464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099775] [ENSMUST00000144885]
Predicted Effect probably damaging
Transcript: ENSMUST00000099775
AA Change: D68N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097363
Gene: ENSMUSG00000075084
AA Change: D68N

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 3.5e-45 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.2e-5 PFAM
Pfam:7tm_1 39 285 2.1e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000144885
AA Change: D68N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216635
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
Abca4 G A 3: 122,062,704 probably null Het
Adamts19 T A 18: 59,024,465 V943E probably damaging Het
C530025M09Rik C A 2: 149,830,726 probably benign Het
Cep192 T G 18: 67,820,336 W475G probably damaging Het
Col28a1 T C 6: 8,014,795 Y870C probably damaging Het
Cyp2a22 A T 7: 26,937,738 M207K probably benign Het
Dpm1 A G 2: 168,210,575 V247A probably benign Het
Glt1d1 T C 5: 127,632,285 M1T probably null Het
Gm9507 A T 10: 77,811,280 C188* probably null Het
Hectd4 T C 5: 121,363,870 V4222A possibly damaging Het
Igkv3-3 T A 6: 70,687,413 S80T possibly damaging Het
Lrrc49 T C 9: 60,601,320 K520E probably damaging Het
Ltbp1 A T 17: 75,385,160 Y1273F probably damaging Het
Lyst T A 13: 13,648,878 H1478Q probably benign Het
Mre11a A G 9: 14,825,208 D518G probably benign Het
Olfr381 T A 11: 73,486,572 N84I probably benign Het
Olfr859 T C 9: 19,808,396 I26T probably benign Het
Pkd1l1 T A 11: 8,950,515 S9C probably damaging Het
Prrc2b A G 2: 32,208,719 H681R probably damaging Het
Rapgef1 A G 2: 29,722,269 S644G probably benign Het
Sgce T A 6: 4,689,750 H361L probably damaging Het
Specc1 G T 11: 62,118,009 W117L probably benign Het
Srrm4 A G 5: 116,446,557 S485P possibly damaging Het
Traf2 G T 2: 25,520,451 Y395* probably null Het
Trf A G 9: 103,220,957 I34T probably benign Het
Vdac2 T C 14: 21,838,524 Y165H possibly damaging Het
Wwp1 T C 4: 19,650,360 T269A probably benign Het
Other mutations in Olfr1243
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01940:Olfr1243 APN 2 89527810 missense probably damaging 0.99
IGL02553:Olfr1243 APN 2 89527931 missense probably benign
R0105:Olfr1243 UTSW 2 89528363 missense probably benign 0.00
R0105:Olfr1243 UTSW 2 89528363 missense probably benign 0.00
R0607:Olfr1243 UTSW 2 89528107 missense possibly damaging 0.88
R0764:Olfr1243 UTSW 2 89527996 missense probably benign 0.05
R1779:Olfr1243 UTSW 2 89527645 missense probably benign 0.15
R2221:Olfr1243 UTSW 2 89527937 missense probably benign 0.05
R3853:Olfr1243 UTSW 2 89527573 missense possibly damaging 0.94
R3886:Olfr1243 UTSW 2 89527732 missense possibly damaging 0.81
R3887:Olfr1243 UTSW 2 89527732 missense possibly damaging 0.81
R3888:Olfr1243 UTSW 2 89527732 missense possibly damaging 0.81
R4431:Olfr1243 UTSW 2 89527643 missense probably damaging 1.00
R4479:Olfr1243 UTSW 2 89528170 missense possibly damaging 0.89
R6807:Olfr1243 UTSW 2 89527588 missense probably damaging 1.00
R7025:Olfr1243 UTSW 2 89527604 missense probably damaging 0.98
R7094:Olfr1243 UTSW 2 89527558 missense probably damaging 1.00
R7144:Olfr1243 UTSW 2 89527557 missense probably damaging 1.00
Posted On2011-07-12