Incidental Mutation 'IGL01913:Olfr1250'
ID179852
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1250
Ensembl Gene ENSMUSG00000075078
Gene Nameolfactory receptor 1250
SynonymsGA_x6K02T2Q125-51098877-51097933, MOR231-7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL01913
Quality Score
Status
Chromosome2
Chromosomal Location89653773-89661467 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 89657340 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 34 (I34L)
Ref Sequence ENSEMBL: ENSMUSP00000149720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099768] [ENSMUST00000111527] [ENSMUST00000215730]
Predicted Effect probably benign
Transcript: ENSMUST00000099768
AA Change: I34L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000097356
Gene: ENSMUSG00000075078
AA Change: I34L

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 1.1e-28 PFAM
Pfam:7tm_4 137 278 1e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111527
AA Change: I34L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107152
Gene: ENSMUSG00000075078
AA Change: I34L

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.2e-50 PFAM
Pfam:7tm_1 39 285 8.1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215730
AA Change: I34L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
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
Acvr2a A G 2: 48,899,613 E456G probably damaging Het
Ahnak A T 19: 9,006,064 K1571* probably null Het
Arhgef2 G A 3: 88,631,919 V58M probably damaging Het
Ash2l A G 8: 25,819,624 probably null Het
C3 T C 17: 57,213,767 N1163S probably null Het
Cbfa2t2 A G 2: 154,517,773 T253A probably damaging Het
Dnah5 T C 15: 28,313,753 V1905A possibly damaging Het
Dsg1a C T 18: 20,322,236 R86C probably damaging Het
Fastkd1 A T 2: 69,708,501 probably benign Het
Fat3 T C 9: 15,998,790 D1972G probably damaging Het
Fxyd5 T C 7: 31,035,212 T163A probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
H6pd A T 4: 149,994,463 probably benign Het
Klhdc2 T G 12: 69,302,358 S90A probably benign Het
Lcn2 A G 2: 32,387,145 V139A possibly damaging Het
Nup205 A G 6: 35,227,430 E1417G probably benign Het
Olfr1102 A T 2: 87,002,820 M284L possibly damaging Het
Olfr209 A T 16: 59,361,931 C96S probably damaging Het
Pcdh18 C A 3: 49,755,249 S539I possibly damaging Het
Stat1 T C 1: 52,126,557 I104T probably benign Het
Tmem151a G A 19: 5,081,892 R429C probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdpcp A G 11: 21,748,931 D570G probably damaging Het
Zfp429 T C 13: 67,396,674 Y27C probably damaging Het
Zfp462 T C 4: 55,012,138 V1368A probably benign Het
Zfp651 T C 9: 121,763,969 C452R probably damaging Het
Other mutations in Olfr1250
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00938:Olfr1250 APN 2 89657076 missense probably damaging 0.98
IGL01608:Olfr1250 APN 2 89656491 utr 3 prime probably benign
IGL02458:Olfr1250 APN 2 89657348 missense probably damaging 1.00
R0102:Olfr1250 UTSW 2 89656655 missense probably benign 0.10
R0621:Olfr1250 UTSW 2 89657115 nonsense probably null
R0826:Olfr1250 UTSW 2 89656837 missense possibly damaging 0.49
R5460:Olfr1250 UTSW 2 89657070 missense probably damaging 1.00
R5720:Olfr1250 UTSW 2 89656955 missense probably benign 0.20
R6044:Olfr1250 UTSW 2 89657172 missense probably damaging 1.00
R6965:Olfr1250 UTSW 2 89656665 missense probably damaging 1.00
R7069:Olfr1250 UTSW 2 89656566 missense probably benign 0.00
Posted On2014-05-07