Incidental Mutation 'IGL02334:Olfr1245'
ID288800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1245
Ensembl Gene ENSMUSG00000111456
Gene Nameolfactory receptor 1245
SynonymsGA_x6K02T2Q125-51020951-51020028, MOR231-12
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL02334
Quality Score
Status
Chromosome2
Chromosomal Location89573406-89578447 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 89575324 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 134 (M134R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214870] [ENSMUST00000217402]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099766
AA Change: M134R

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097354
Gene: ENSMUSG00000100601
AA Change: M134R

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 6e-49 PFAM
Pfam:7tm_1 39 285 2.8e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214870
AA Change: M134R

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217402
AA Change: M134R

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd46 A G 15: 36,485,933 V58A possibly damaging Het
Dhx16 A G 17: 35,884,057 E492G probably damaging Het
Dock1 T C 7: 135,145,565 M1535T probably damaging Het
Evpl G T 11: 116,231,024 S344* probably null Het
F2 A T 2: 91,633,094 H148Q probably benign Het
Fam83e A T 7: 45,723,921 H237L probably benign Het
Fscn3 A T 6: 28,428,154 probably null Het
Gpr162 C A 6: 124,861,160 G176C probably damaging Het
Icam5 A G 9: 21,035,209 D376G possibly damaging Het
Ift172 T C 5: 31,283,058 K295R probably benign Het
Irf3 A G 7: 44,998,710 probably benign Het
Itga2 A T 13: 114,865,309 probably null Het
Klhl11 A T 11: 100,463,836 D386E probably damaging Het
Myh4 G T 11: 67,245,547 G417V probably damaging Het
Nlrp3 A G 11: 59,565,083 T902A probably benign Het
Olfr1012 A T 2: 85,760,159 Y72* probably null Het
Olfr1390 A G 11: 49,341,191 I220V probably benign Het
Phf10 T C 17: 14,954,099 Y239C probably damaging Het
Pla2g4e A G 2: 120,187,236 F203S probably benign Het
Pramel1 T C 4: 143,397,526 F257S probably damaging Het
Prodh2 A G 7: 30,506,378 H213R probably damaging Het
Rgs7 C T 1: 175,189,222 D61N probably damaging Het
Rhobtb1 T A 10: 69,285,678 probably benign Het
Sct C A 7: 141,278,617 probably null Het
Slc17a9 G A 2: 180,740,743 probably null Het
Spire1 T C 18: 67,506,655 T263A probably benign Het
Trpm1 A T 7: 64,245,942 probably null Het
Trpm7 G T 2: 126,807,362 N1469K probably benign Het
Zfp750 G T 11: 121,512,011 T637K probably benign Het
Zswim5 T C 4: 116,986,644 C960R probably damaging Het
Zwint T A 10: 72,654,983 probably null Het
Other mutations in Olfr1245
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Olfr1245 APN 2 89575423 missense possibly damaging 0.68
IGL01690:Olfr1245 APN 2 89575213 missense probably benign 0.09
IGL02435:Olfr1245 APN 2 89575546 missense probably damaging 0.99
IGL02793:Olfr1245 APN 2 89575552 missense probably damaging 1.00
IGL02875:Olfr1245 APN 2 89575552 missense probably damaging 1.00
IGL03218:Olfr1245 APN 2 89575591 missense probably benign 0.09
IGL03392:Olfr1245 APN 2 89575249 missense probably damaging 0.96
H8786:Olfr1245 UTSW 2 89575279 missense probably damaging 1.00
I0000:Olfr1245 UTSW 2 89575153 missense probably damaging 1.00
R0044:Olfr1245 UTSW 2 89575630 missense possibly damaging 0.68
R0190:Olfr1245 UTSW 2 89574958 missense probably damaging 0.98
R1585:Olfr1245 UTSW 2 89575402 missense possibly damaging 0.89
R1902:Olfr1245 UTSW 2 89575603 missense possibly damaging 0.77
R2018:Olfr1245 UTSW 2 89575393 missense probably damaging 0.97
R2019:Olfr1245 UTSW 2 89575393 missense probably damaging 0.97
R2020:Olfr1245 UTSW 2 89574961 missense possibly damaging 0.88
R2021:Olfr1245 UTSW 2 89574961 missense possibly damaging 0.88
R2030:Olfr1245 UTSW 2 89575214 missense probably benign 0.00
R2133:Olfr1245 UTSW 2 89575256 nonsense probably null
R3850:Olfr1245 UTSW 2 89575034 missense probably damaging 0.99
R4066:Olfr1245 UTSW 2 89575179 missense probably damaging 1.00
R4754:Olfr1245 UTSW 2 89575047 missense probably benign
R4923:Olfr1245 UTSW 2 89575679 missense probably damaging 0.98
R5303:Olfr1245 UTSW 2 89575001 missense possibly damaging 0.88
R5574:Olfr1245 UTSW 2 89574977 missense possibly damaging 0.94
R6083:Olfr1245 UTSW 2 89575672 missense probably benign 0.42
R6188:Olfr1245 UTSW 2 89575194 nonsense probably null
R6724:Olfr1245 UTSW 2 89574965 missense probably benign 0.26
R6964:Olfr1245 UTSW 2 89574989 missense probably benign
R7066:Olfr1245 UTSW 2 89575703 missense probably damaging 0.98
R7401:Olfr1245 UTSW 2 89575105 missense probably benign 0.27
R8232:Olfr1245 UTSW 2 89575594 missense noncoding transcript
R8558:Olfr1245 UTSW 2 89574985 missense probably damaging 1.00
R8708:Olfr1245 UTSW 2 89575279 missense probably damaging 1.00
Posted On2015-04-16