Incidental Mutation 'IGL02458:Olfr1250'
ID294471
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: 0.064) question?
Stock #IGL02458
Quality Score
Status
Chromosome2
Chromosomal Location89653773-89661467 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89657348 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 31 (L31P)
Ref Sequence ENSEMBL: ENSMUSP00000149720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099768] [ENSMUST00000111527] [ENSMUST00000215730]
Predicted Effect probably damaging
Transcript: ENSMUST00000099768
AA Change: L31P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097356
Gene: ENSMUSG00000075078
AA Change: L31P

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 1.1e-28 PFAM
Pfam:7tm_4 137 278 1e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111527
AA Change: L31P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107152
Gene: ENSMUSG00000075078
AA Change: L31P

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.2e-50 PFAM
Pfam:7tm_1 39 285 8.1e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215730
AA Change: L31P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 40,753,807 I37L probably benign Het
Alpk1 A G 3: 127,681,319 probably null Het
Ankrd33 T C 15: 101,116,607 F8L probably damaging Het
Avil A G 10: 127,016,353 K669R probably benign Het
Bcor G T X: 12,048,510 L1165I probably damaging Het
C7 A G 15: 5,059,389 probably benign Het
Cc2d2a A G 5: 43,718,554 I958V probably benign Het
Cenpe A T 3: 135,230,108 K435* probably null Het
Chrna7 G A 7: 63,106,094 L235F probably damaging Het
Col6a3 C A 1: 90,779,197 V2065L unknown Het
Copb1 A T 7: 114,246,785 N183K probably benign Het
Cpn2 G A 16: 30,260,835 A16V probably benign Het
Cul1 A G 6: 47,525,608 K769E possibly damaging Het
Ddx58 A G 4: 40,229,536 S83P probably damaging Het
Deup1 C T 9: 15,592,360 V302M probably benign Het
Dnah17 T C 11: 118,036,350 K3871E probably damaging Het
Dnah6 A G 6: 73,027,448 V3844A probably benign Het
Dnah7a A T 1: 53,618,328 L763* probably null Het
Donson A T 16: 91,681,176 W461R probably damaging Het
Dpp10 T C 1: 123,341,689 I664V probably benign Het
Dusp8 T A 7: 142,082,747 T369S probably benign Het
Dync2h1 A T 9: 7,117,422 L56Q probably damaging Het
Ecd A T 14: 20,324,477 S532T probably benign Het
Frg2f1 G A 4: 119,530,957 T115I probably damaging Het
Gpatch2l A G 12: 86,288,961 probably benign Het
Gtf3c2 T A 5: 31,159,523 probably null Het
Haghl T C 17: 25,783,496 probably benign Het
Hoxc8 A T 15: 102,992,749 N208I probably damaging Het
Igf2 T C 7: 142,654,048 D115G probably benign Het
Jag2 T A 12: 112,915,993 D385V probably damaging Het
Laptm4b A G 15: 34,258,742 H54R probably benign Het
Lrp2 A G 2: 69,521,773 S640P probably damaging Het
Map3k8 A C 18: 4,334,660 V328G probably damaging Het
Mfsd13a A G 19: 46,372,247 E388G probably damaging Het
Ms4a13 G A 19: 11,171,928 T168I probably benign Het
Mtg1 C A 7: 140,150,172 Q294K probably benign Het
Myh3 C T 11: 67,096,940 A1413V possibly damaging Het
Neo1 A T 9: 58,893,867 probably benign Het
Ogfod3 T C 11: 121,200,923 E119G probably benign Het
Olfr1331 A G 4: 118,869,300 N173S possibly damaging Het
Olfr331 A T 11: 58,502,247 M109K probably benign Het
Olfr800 A T 10: 129,660,606 I267F probably benign Het
Olfr988 G A 2: 85,353,662 T88I probably benign Het
Parvb G T 15: 84,303,434 D248Y probably damaging Het
Pcdh11x A T X: 120,400,618 H586L possibly damaging Het
Phactr2 T C 10: 13,261,828 E120G probably damaging Het
Ppfibp2 A T 7: 107,742,964 Q775L probably damaging Het
Rcbtb1 A G 14: 59,229,994 Y427C probably damaging Het
Rftn2 A T 1: 55,211,192 C131* probably null Het
Rps6ka2 A G 17: 7,289,003 D474G probably benign Het
Rsbn1l T C 5: 20,951,736 E17G probably damaging Het
Ryr2 T C 13: 11,705,699 M2688V probably benign Het
Slc22a18 C A 7: 143,492,837 probably benign Het
Smarcc1 A G 9: 110,132,126 probably benign Het
Soat2 T C 15: 102,162,115 V451A probably damaging Het
Sptlc2 A T 12: 87,309,893 probably benign Het
Tada1 C T 1: 166,392,634 L308F probably damaging Het
Tango2 A T 16: 18,310,867 probably null Het
Tbc1d15 A T 10: 115,229,206 V158D probably damaging Het
Tcrg-V3 A G 13: 19,243,253 Y102C probably damaging Het
Tmx2 A T 2: 84,673,244 probably benign Het
Tpte T A 8: 22,305,858 I79K probably benign Het
Trav6-1 A G 14: 52,638,742 I40V probably benign Het
Ubash3a T C 17: 31,231,481 S377P possibly damaging Het
Vmn2r7 T C 3: 64,693,025 D575G probably damaging Het
Vps41 A G 13: 18,853,479 D704G possibly damaging Het
Vwa5a T C 9: 38,726,963 S261P possibly damaging Het
Zc3hav1 A G 6: 38,340,329 V112A 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
IGL01913:Olfr1250 APN 2 89657340 missense probably benign 0.01
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
R7305:Olfr1250 UTSW 2 89656502 missense probably benign
Posted On2015-04-16