Incidental Mutation 'IGL01938:Olfr1253'
ID180739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1253
Ensembl Gene ENSMUSG00000075075
Gene Nameolfactory receptor 1253
SynonymsMOR231-19P, MOR231-18, MOR231-19P, GA_x6K02T2Q125-51193814-51192857, Olfr1253-ps1, Olfr1559-ps1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL01938
Quality Score
Status
Chromosome2
Chromosomal Location89749467-89757090 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 89752348 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Aspartic acid at position 160 (A160D)
Ref Sequence ENSEMBL: ENSMUSP00000151024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099765] [ENSMUST00000213484] [ENSMUST00000215185] [ENSMUST00000215988]
Predicted Effect probably benign
Transcript: ENSMUST00000099765
AA Change: A160D

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097353
Gene: ENSMUSG00000075075
AA Change: A160D

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 9.2e-46 PFAM
Pfam:7tm_1 39 285 1.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213484
AA Change: A160D

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000215185
AA Change: A160D

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000215988
AA Change: A160D

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
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
2310003L06Rik C T 5: 87,971,708 T108I probably damaging Het
Adam34 A G 8: 43,651,016 Y531H probably damaging Het
Arhgef10 T A 8: 14,991,062 N1077K probably benign Het
BC034090 G T 1: 155,232,592 probably null Het
C87499 A G 4: 88,629,363 S24P possibly damaging Het
Cachd1 A G 4: 100,974,128 I706V possibly damaging Het
Cebpz A T 17: 78,934,961 C421* probably null Het
Celsr3 T C 9: 108,828,415 V699A probably benign Het
Col5a1 A G 2: 27,996,873 N935S unknown Het
Dnah1 C T 14: 31,283,887 V2312I probably benign Het
Ebf3 T C 7: 137,309,318 T156A probably damaging Het
Ern1 A G 11: 106,411,657 V457A probably benign Het
Fam129a A G 1: 151,689,614 T232A probably benign Het
Flii T C 11: 60,715,116 Y1177C probably damaging Het
Fryl T A 5: 73,122,364 K197M probably damaging Het
Glb1l3 A G 9: 26,818,529 F515S probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Kif26b T C 1: 178,916,038 I1233T probably damaging Het
Kptn A G 7: 16,124,789 Y286C probably damaging Het
Lyst A G 13: 13,637,424 N807S possibly damaging Het
Mki67 C T 7: 135,694,330 V2992M probably benign Het
Myocd A G 11: 65,187,088 L627P probably damaging Het
Neto2 A G 8: 85,690,855 I40T probably benign Het
Nipsnap1 C T 11: 4,893,134 H269Y probably benign Het
Nlrp4g G A 9: 124,349,068 noncoding transcript Het
Nup188 A T 2: 30,329,359 R862S probably benign Het
Olfr1 T A 11: 73,395,645 I126F probably damaging Het
Olfr820 T A 10: 130,018,112 Y250* probably null Het
Pde4c A T 8: 70,749,378 K549N probably damaging Het
Pkd1l3 A G 8: 109,635,301 T992A probably benign Het
Smyd2 A G 1: 189,888,882 V213A probably benign Het
Sult1c2 C T 17: 53,831,926 V208M probably damaging Het
Ush2a T C 1: 188,797,845 L3277P probably damaging Het
Wdr72 T C 9: 74,148,774 V304A probably benign Het
Xrra1 T C 7: 99,879,469 probably null Het
Zscan29 C T 2: 121,166,209 A344T probably benign Het
Other mutations in Olfr1253
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02287:Olfr1253 APN 2 89752614 nonsense probably null
IGL03149:Olfr1253 APN 2 89752828 unclassified probably null
R0017:Olfr1253 UTSW 2 89752021 missense possibly damaging 0.67
R1466:Olfr1253 UTSW 2 89752267 missense probably damaging 1.00
R1466:Olfr1253 UTSW 2 89752267 missense probably damaging 1.00
R1584:Olfr1253 UTSW 2 89752267 missense probably damaging 1.00
R2008:Olfr1253 UTSW 2 89752073 missense possibly damaging 0.57
R2484:Olfr1253 UTSW 2 89752234 missense probably benign 0.00
R5135:Olfr1253 UTSW 2 89751895 missense possibly damaging 0.67
R5648:Olfr1253 UTSW 2 89752073 missense probably damaging 0.99
R6021:Olfr1253 UTSW 2 89752121 missense probably benign 0.13
R6952:Olfr1253 UTSW 2 89752627 missense possibly damaging 0.64
R7039:Olfr1253 UTSW 2 89752751 missense probably benign 0.01
R7088:Olfr1253 UTSW 2 89752099 missense not run
Posted On2014-05-07