Incidental Mutation 'IGL01760:Olfr433'
ID153232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr433
Ensembl Gene ENSMUSG00000045381
Gene Nameolfactory receptor 433
SynonymsGA_x6K02T2P20D-21133014-21132070, MOR123-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL01760
Quality Score
Status
Chromosome1
Chromosomal Location174040705-174044411 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 174042625 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 225 (L225P)
Ref Sequence ENSEMBL: ENSMUSP00000149005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052975] [ENSMUST00000214690]
Predicted Effect probably damaging
Transcript: ENSMUST00000052975
AA Change: L225P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056772
Gene: ENSMUSG00000045381
AA Change: L225P

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 4.6e-51 PFAM
Pfam:7TM_GPCR_Srsx 35 170 2.9e-8 PFAM
Pfam:7tm_1 41 289 1.3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214690
AA Change: L225P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T A 8: 83,731,957 T147S probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Chst3 A T 10: 60,186,470 V185D probably damaging Het
Col14a1 A C 15: 55,423,459 D892A unknown Het
Dopey1 A G 9: 86,519,923 T1059A probably benign Het
Erlec1 A C 11: 30,934,731 S441A probably benign Het
Frmd4b G T 6: 97,308,702 T289N probably damaging Het
Gm2016 A T 12: 87,877,021 probably benign Het
Gm6133 G A 18: 78,350,175 R128Q probably benign Het
Gnai2 A G 9: 107,616,518 S155P probably damaging Het
Hspg2 T C 4: 137,512,671 S517P possibly damaging Het
Ighv9-1 C A 12: 114,094,194 E29* probably null Het
Lrp1 T C 10: 127,573,501 K1583R probably benign Het
Ltbp1 C T 17: 75,227,150 T211M probably damaging Het
Mttp A G 3: 138,111,736 S418P probably benign Het
Napa A G 7: 16,098,744 N23S possibly damaging Het
Odf2 C A 2: 29,914,460 Q347K probably damaging Het
Ogdhl A G 14: 32,339,937 D504G probably damaging Het
Pdxdc1 A T 16: 13,859,152 N273K probably damaging Het
Rslcan18 T C 13: 67,113,951 I11V probably benign Het
Spidr G T 16: 15,912,560 R664S possibly damaging Het
Tead3 T C 17: 28,333,081 N385S probably benign Het
Trim13 T A 14: 61,605,723 N396K probably benign Het
Trp53bp2 C T 1: 182,448,428 A160V possibly damaging Het
Vmn2r69 A G 7: 85,406,864 S689P possibly damaging Het
Vmn2r79 A T 7: 87,002,158 Q255L probably benign Het
Wsb1 T C 11: 79,242,041 Y276C probably damaging Het
Zfp236 G T 18: 82,621,422 N1233K probably damaging Het
Other mutations in Olfr433
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02369:Olfr433 APN 1 174041973 missense possibly damaging 0.64
IGL03256:Olfr433 APN 1 174042208 missense probably damaging 1.00
IGL03297:Olfr433 APN 1 174042117 missense probably benign 0.00
R0837:Olfr433 UTSW 1 174042487 missense probably damaging 1.00
R1583:Olfr433 UTSW 1 174042480 missense probably benign 0.11
R1974:Olfr433 UTSW 1 174042588 missense probably damaging 1.00
R2280:Olfr433 UTSW 1 174042521 missense probably benign 0.00
R2897:Olfr433 UTSW 1 174042133 missense probably damaging 1.00
R3022:Olfr433 UTSW 1 174042084 missense probably benign 0.13
R4478:Olfr433 UTSW 1 174042616 missense probably benign 0.00
R6364:Olfr433 UTSW 1 174042212 missense possibly damaging 0.80
R6588:Olfr433 UTSW 1 174042278 missense probably benign 0.01
R7343:Olfr433 UTSW 1 174042853 missense probably damaging 0.98
R7409:Olfr433 UTSW 1 174042533 missense probably benign 0.02
Posted On2014-02-04