Incidental Mutation 'IGL03023:Olfr1333'
ID408035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1333
Ensembl Gene ENSMUSG00000110947
Gene Nameolfactory receptor 1333
SynonymsMOR259-11, GA_x6K02T2QD9B-18703033-18703986, MOR259-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock #IGL03023
Quality Score
Status
Chromosome4
Chromosomal Location118827659-118836279 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 118830252 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 63 (F63I)
Ref Sequence ENSEMBL: ENSMUSP00000075398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076019] [ENSMUST00000106361] [ENSMUST00000214477]
Predicted Effect probably damaging
Transcript: ENSMUST00000076019
AA Change: F63I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075398
Gene: ENSMUSG00000110947
AA Change: F63I

DomainStartEndE-ValueType
Pfam:7tm_1 42 291 4.1e-31 PFAM
Pfam:7tm_4 140 284 2.9e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106361
AA Change: F64I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101968
Gene: ENSMUSG00000073768
AA Change: F64I

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 6.1e-56 PFAM
Pfam:7tm_1 43 292 3.9e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214477
AA Change: F62I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000214477
AA Change: F62I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,904,984 D28G probably damaging Het
BC067074 A G 13: 113,351,741 D99G probably benign Het
Btaf1 C T 19: 37,010,015 R1746C possibly damaging Het
Comp T C 8: 70,378,610 probably benign Het
Cyp2d9 A G 15: 82,455,518 T313A probably damaging Het
Cyp3a59 T A 5: 146,085,850 D55E probably benign Het
Dysf A G 6: 84,193,007 Y1790C probably damaging Het
Fmo3 A C 1: 162,958,465 F319V probably benign Het
Frem2 A T 3: 53,655,628 V486D probably benign Het
Gucy2c A T 6: 136,702,796 probably null Het
Hdac7 A T 15: 97,797,957 Y674N probably damaging Het
Inpp5a G A 7: 139,525,786 probably null Het
Jup T C 11: 100,380,692 probably benign Het
Krt84 T C 15: 101,528,445 T385A possibly damaging Het
Nbeal1 T C 1: 60,253,413 Y1075H probably damaging Het
Nphp4 A G 4: 152,524,235 probably null Het
Olfr109 A G 17: 37,466,994 T263A probably benign Het
Olfr1178 G A 2: 88,391,343 C32Y probably damaging Het
Psmc4 T A 7: 28,042,860 I264L possibly damaging Het
Rwdd4a T C 8: 47,542,768 V61A probably benign Het
Setx A G 2: 29,145,902 T800A probably benign Het
Vmn1r74 T C 7: 11,847,330 C186R possibly damaging Het
Vsig2 A G 9: 37,542,412 Y136C probably damaging Het
Other mutations in Olfr1333
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Olfr1333 APN 4 118829792 missense probably benign 0.30
IGL03387:Olfr1333 APN 4 118830041 missense probably damaging 1.00
R0326:Olfr1333 UTSW 4 118829825 missense possibly damaging 0.90
R0532:Olfr1333 UTSW 4 118829700 missense probably damaging 1.00
R1775:Olfr1333 UTSW 4 118829868 missense probably benign 0.00
R1906:Olfr1333 UTSW 4 118830270 missense probably damaging 1.00
R1946:Olfr1333 UTSW 4 118830026 missense probably benign 0.00
R2260:Olfr1333 UTSW 4 118830162 missense probably damaging 1.00
R5084:Olfr1333 UTSW 4 118829570 missense probably damaging 1.00
R5337:Olfr1333 UTSW 4 118829666 missense probably benign 0.44
R5444:Olfr1333 UTSW 4 118830111 missense probably benign
R5817:Olfr1333 UTSW 4 118830099 missense probably damaging 0.96
R5973:Olfr1333 UTSW 4 118830216 missense probably benign 0.22
R5987:Olfr1333 UTSW 4 118830281 missense probably damaging 0.96
R6031:Olfr1333 UTSW 4 118830391 unclassified probably null
R6031:Olfr1333 UTSW 4 118830391 unclassified probably null
R7255:Olfr1333 UTSW 4 118829952 missense probably benign 0.17
Posted On2016-08-02