Incidental Mutation 'IGL01014:Olfr1259'
ID53441
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1259
Ensembl Gene ENSMUSG00000068806
Gene Nameolfactory receptor 1259
SynonymsGA_x6K02T2Q125-51376062-51375133, MOR232-9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock #IGL01014
Quality Score
Status
Chromosome2
Chromosomal Location89940532-89948664 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89943260 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 285 (Y285C)
Ref Sequence ENSEMBL: ENSMUSP00000149652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090695] [ENSMUST00000214846]
Predicted Effect probably damaging
Transcript: ENSMUST00000090695
AA Change: Y285C

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088194
Gene: ENSMUSG00000068806
AA Change: Y285C

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 8.9e-45 PFAM
Pfam:7tm_1 39 285 5.5e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214846
AA Change: Y285C

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 G A 7: 139,875,660 M401I probably benign Het
Adgra1 C T 7: 139,875,661 H402Y probably damaging Het
Akap13 T C 7: 75,750,633 probably benign Het
Akap9 A G 5: 3,968,683 E1088G probably benign Het
Aox2 T C 1: 58,322,801 F722S possibly damaging Het
Arhgef39 G A 4: 43,499,502 R36C probably damaging Het
Art2a-ps C A 7: 101,554,908 C141F probably damaging Het
Brwd1 A G 16: 96,016,173 F1380L probably benign Het
Cadps2 A T 6: 23,496,874 N102K possibly damaging Het
Ccdc30 C A 4: 119,393,579 R22L possibly damaging Het
Ccdc74a A T 16: 17,649,797 T200S possibly damaging Het
Cd200 G A 16: 45,394,700 T196I probably benign Het
Cd244 A G 1: 171,574,288 Y194C probably damaging Het
Cdh23 T C 10: 60,307,522 T3009A probably damaging Het
Clec12b T A 6: 129,385,430 N21Y probably damaging Het
Cntln A G 4: 85,049,908 E788G probably benign Het
Col11a1 C T 3: 114,123,809 probably benign Het
Cttnbp2 T A 6: 18,423,895 N810I probably damaging Het
Dhx15 A T 5: 52,151,924 V719D probably damaging Het
Dnah6 A G 6: 73,074,781 probably benign Het
Dnajc13 A G 9: 104,203,218 I888T probably damaging Het
Fasn T C 11: 120,817,229 K666E probably damaging Het
Gnas C T 2: 174,297,974 probably benign Het
Lmntd2 T C 7: 141,214,039 Q7R probably damaging Het
Lmo7 G A 14: 101,920,557 probably benign Het
Lrrc55 A G 2: 85,196,215 I155T possibly damaging Het
Meis3 C T 7: 16,178,947 probably benign Het
Mib2 C T 4: 155,657,730 V334M probably damaging Het
Myo3a A G 2: 22,332,473 I386V probably benign Het
Neb C A 2: 52,287,158 M1390I probably benign Het
Nmd3 G A 3: 69,726,386 V69I probably benign Het
Nsmce3 G T 7: 64,872,634 D95E possibly damaging Het
Olfr1140 T C 2: 87,747,125 F310L probably benign Het
Olfr1311 A G 2: 112,021,132 S241P probably damaging Het
Pde4d T C 13: 109,949,502 V538A probably damaging Het
Plxnb1 A T 9: 109,106,034 H982L probably benign Het
Pold2 G T 11: 5,872,293 Q459K probably benign Het
Ptpn14 G A 1: 189,822,633 R130Q probably damaging Het
Rnf10 A T 5: 115,256,983 L182Q probably damaging Het
Syne2 G A 12: 75,905,277 D440N probably damaging Het
Tlcd1 G A 11: 78,179,457 probably null Het
Tmem8 T A 17: 26,117,009 probably benign Het
Tpte A T 8: 22,320,882 Y185F probably benign Het
Other mutations in Olfr1259
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01446:Olfr1259 APN 2 89943938 missense probably damaging 0.99
IGL01830:Olfr1259 APN 2 89943431 missense probably benign 0.03
IGL02160:Olfr1259 APN 2 89943805 missense probably damaging 1.00
PIT4280001:Olfr1259 UTSW 2 89943743 missense probably damaging 1.00
R0366:Olfr1259 UTSW 2 89943818 missense possibly damaging 0.89
R0550:Olfr1259 UTSW 2 89943389 missense probably damaging 0.99
R0587:Olfr1259 UTSW 2 89943392 missense probably damaging 1.00
R1383:Olfr1259 UTSW 2 89943551 missense probably benign 0.12
R1400:Olfr1259 UTSW 2 89943542 missense possibly damaging 0.82
R1851:Olfr1259 UTSW 2 89943814 nonsense probably null
R1953:Olfr1259 UTSW 2 89943923 missense probably damaging 1.00
R2330:Olfr1259 UTSW 2 89943953 missense probably benign
R3897:Olfr1259 UTSW 2 89943809 missense probably benign 0.24
R3955:Olfr1259 UTSW 2 89943828 missense possibly damaging 0.90
R4687:Olfr1259 UTSW 2 89943869 missense probably damaging 0.98
R4976:Olfr1259 UTSW 2 89943803 missense possibly damaging 0.77
R5119:Olfr1259 UTSW 2 89943803 missense possibly damaging 0.77
R5291:Olfr1259 UTSW 2 89943436 nonsense probably null
R5415:Olfr1259 UTSW 2 89943387 missense probably benign 0.25
R5546:Olfr1259 UTSW 2 89943585 missense probably damaging 1.00
R5588:Olfr1259 UTSW 2 89943792 missense probably benign 0.00
R6633:Olfr1259 UTSW 2 89943366 missense probably benign
R6858:Olfr1259 UTSW 2 89943743 missense probably damaging 0.99
R7294:Olfr1259 UTSW 2 89943724 nonsense probably null
Z1088:Olfr1259 UTSW 2 89943770 missense probably benign 0.01
Posted On2013-06-28