Incidental Mutation 'IGL01889:Olfr1269'
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ID179198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1269
Ensembl Gene ENSMUSG00000084336
Gene Nameolfactory receptor 1269
SynonymsGA_x6K02T2Q125-51551618-51550689, MOR228-3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.310) question?
Stock #IGL01889
Quality Score
Status
Chromosome2
Chromosomal Location90116187-90121412 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90118965 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 211 (V211A)
Ref Sequence ENSEMBL: ENSMUSP00000150470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099756] [ENSMUST00000117787] [ENSMUST00000214404] [ENSMUST00000216493]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099756
AA Change: V211A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097345
Gene: ENSMUSG00000084336
AA Change: V211A

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 3.8e-50 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.2e-5 PFAM
Pfam:7tm_1 39 285 5.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117787
Predicted Effect possibly damaging
Transcript: ENSMUST00000214404
AA Change: V211A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216493
AA Change: V211A

PolyPhen 2 Score 0.840 (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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik G A 6: 92,828,000 probably benign Het
Brap G A 5: 121,660,818 V18I probably benign Het
Csmd1 C T 8: 15,998,857 V2282M probably damaging Het
Flnb A G 14: 7,935,967 E2269G possibly damaging Het
Gaa A G 11: 119,278,297 I557V probably benign Het
Gapt T A 13: 110,353,967 Q54L probably benign Het
Gsdmc A T 15: 63,780,003 I253N possibly damaging Het
Kcnj3 T A 2: 55,437,204 S2T possibly damaging Het
Mindy2 T C 9: 70,631,162 probably benign Het
Ncor1 A G 11: 62,334,601 V1048A possibly damaging Het
Nlrp4d A T 7: 10,378,334 V636D unknown Het
Nphs1 G T 7: 30,460,511 R82S probably damaging Het
Olfr1336 G A 7: 6,460,503 probably benign Het
Olfr512 T A 7: 108,713,882 F164L probably benign Het
Papln T A 12: 83,786,835 L1175Q probably benign Het
Rab22a T C 2: 173,688,238 probably benign Het
Rel A G 11: 23,757,035 Y56H probably damaging Het
Sdc4 A G 2: 164,431,207 L61P probably damaging Het
Slc1a4 A G 11: 20,314,089 probably benign Het
Ubr4 T A 4: 139,462,472 C3989* probably null Het
Zfyve16 A G 13: 92,522,569 V278A possibly damaging Het
Other mutations in Olfr1269
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Olfr1269 APN 2 90119068 missense probably damaging 1.00
IGL01518:Olfr1269 APN 2 90118971 missense possibly damaging 0.95
IGL02629:Olfr1269 APN 2 90118857 nonsense probably null
R0732:Olfr1269 UTSW 2 90119322 missense probably benign 0.20
R1446:Olfr1269 UTSW 2 90118858 missense probably damaging 0.98
R1938:Olfr1269 UTSW 2 90119083 missense probably damaging 0.97
R4526:Olfr1269 UTSW 2 90118672 missense probably benign 0.01
R4786:Olfr1269 UTSW 2 90119007 missense possibly damaging 0.95
R4792:Olfr1269 UTSW 2 90118830 missense possibly damaging 0.95
R4925:Olfr1269 UTSW 2 90118777 missense probably damaging 1.00
R5152:Olfr1269 UTSW 2 90119121 missense probably damaging 0.98
R5296:Olfr1269 UTSW 2 90118699 missense probably damaging 0.97
R5450:Olfr1269 UTSW 2 90118669 makesense probably null
R5536:Olfr1269 UTSW 2 90118839 missense probably benign 0.00
R7572:Olfr1269 UTSW 2 90118743 missense probably damaging 1.00
R7695:Olfr1269 UTSW 2 90118863 missense probably benign 0.08
R7879:Olfr1269 UTSW 2 90118841 nonsense probably null
R7962:Olfr1269 UTSW 2 90118841 nonsense probably null
Posted On2014-05-07