Incidental Mutation 'IGL02574:Olfr133'
ID299126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr133
Ensembl Gene ENSMUSG00000063240
Gene Nameolfactory receptor 133
SynonymsGA_x6K02T2PSCP-2597192-2598130, MOR256-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.162) question?
Stock #IGL02574
Quality Score
Status
Chromosome17
Chromosomal Location38145281-38151269 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 38149389 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 267 (T267I)
Ref Sequence ENSEMBL: ENSMUSP00000150597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113636] [ENSMUST00000173610] [ENSMUST00000215078] [ENSMUST00000215549]
Predicted Effect possibly damaging
Transcript: ENSMUST00000113636
AA Change: T267I

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109266
Gene: ENSMUSG00000063240
AA Change: T267I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 27 305 3.4e-7 PFAM
Pfam:7tm_4 31 308 6.1e-52 PFAM
Pfam:7tm_1 41 290 1.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173610
SMART Domains Protein: ENSMUSP00000133824
Gene: ENSMUSG00000063240

DomainStartEndE-ValueType
Pfam:7tm_1 55 109 3.3e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215078
AA Change: T267I

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215549
AA Change: T267I

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef12 T C 9: 43,005,623 D409G probably damaging Het
AW551984 A C 9: 39,589,086 L792R possibly damaging Het
Cep192 A G 18: 67,841,279 E1151G probably damaging Het
Cfap44 C A 16: 44,481,383 P1828Q probably damaging Het
Chid1 A T 7: 141,496,690 probably benign Het
Col6a6 C A 9: 105,782,191 L518F probably damaging Het
Ctsz C T 2: 174,429,098 R201K probably benign Het
D430042O09Rik A G 7: 125,829,753 T516A possibly damaging Het
Diras1 T C 10: 81,022,285 Y44C probably damaging Het
Grip1 T C 10: 119,942,913 V159A probably damaging Het
Hpd T C 5: 123,179,357 probably benign Het
Jag2 T C 12: 112,915,511 N463S probably benign Het
Kmt2a C A 9: 44,830,513 probably benign Het
Myo5a A G 9: 75,211,147 N1619D probably benign Het
Ncbp1 A G 4: 46,168,449 probably null Het
Olfr103 G T 17: 37,336,524 A236E probably damaging Het
Pacsin2 G T 15: 83,388,663 A154E possibly damaging Het
Plcd4 A T 1: 74,564,380 I647F probably damaging Het
Prdm10 C T 9: 31,357,293 A846V probably damaging Het
Ptgs2 G T 1: 150,102,775 G213* probably null Het
Rcan3 C T 4: 135,425,395 S5N probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Serpinc1 A G 1: 161,002,459 N465S probably benign Het
Slc40a1 T C 1: 45,912,374 I208V possibly damaging Het
Vcl C T 14: 20,929,575 Q19* probably null Het
Other mutations in Olfr133
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Olfr133 APN 17 38148855 missense probably benign
IGL02486:Olfr133 APN 17 38149221 missense probably damaging 1.00
PIT4243001:Olfr133 UTSW 17 38149503 missense probably benign 0.06
PIT4504001:Olfr133 UTSW 17 38149169 missense probably benign
R0726:Olfr133 UTSW 17 38148624 missense probably damaging 1.00
R2242:Olfr133 UTSW 17 38148722 missense possibly damaging 0.87
R2496:Olfr133 UTSW 17 38149431 missense possibly damaging 0.91
R4579:Olfr133 UTSW 17 38149405 missense probably damaging 1.00
R5085:Olfr133 UTSW 17 38149112 missense probably damaging 1.00
R6273:Olfr133 UTSW 17 38148942 missense possibly damaging 0.94
R6344:Olfr133 UTSW 17 38148720 missense probably benign 0.01
R7046:Olfr133 UTSW 17 38148800 missense probably benign 0.00
R7090:Olfr133 UTSW 17 38149494 missense probably benign 0.33
R7213:Olfr133 UTSW 17 38149074 missense probably benign 0.00
Posted On2015-04-16