Incidental Mutation 'IGL03387:Olfr1333'
ID 420886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1333
Ensembl Gene ENSMUSG00000110947
Gene Name olfactory receptor 1333
Synonyms MOR259-11, GA_x6K02T2QD9B-18703033-18703986, MOR259-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL03387
Quality Score
Status
Chromosome 4
Chromosomal Location 118827659-118836279 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118830041 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 132 (Y132C)
Ref Sequence ENSEMBL: ENSMUSP00000154759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076019] [ENSMUST00000106361] [ENSMUST00000214477]
AlphaFold Q7TQV7
Predicted Effect probably damaging
Transcript: ENSMUST00000076019
AA Change: Y133C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075398
Gene: ENSMUSG00000110947
AA Change: Y133C

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: Y134C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101968
Gene: ENSMUSG00000073768
AA Change: Y134C

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: Y132C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214477
AA Change: Y132C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik A G 2: 130,717,280 Y822H probably damaging Het
Adcy2 A C 13: 68,730,367 I384S probably damaging Het
Atxn7 T C 14: 14,087,273 probably benign Het
Blm A T 7: 80,494,147 V848D probably damaging Het
Cul1 G T 6: 47,501,209 L175F probably damaging Het
Cyp4a29 A G 4: 115,251,171 H364R possibly damaging Het
Ddx60 A G 8: 62,012,449 D1380G probably damaging Het
Det1 A T 7: 78,843,624 C211S possibly damaging Het
F5 A C 1: 164,193,232 Q1092P probably damaging Het
Fam117b A C 1: 59,952,960 Y256S probably benign Het
Fbxl13 A G 5: 21,523,798 probably null Het
Galnt7 A G 8: 57,526,178 I637T probably benign Het
H2-T24 T A 17: 36,006,779 K120N unknown Het
Hes2 A G 4: 152,159,812 K18R probably damaging Het
Icam5 A T 9: 21,033,801 Q220L probably benign Het
Kdm8 G A 7: 125,455,106 A170T probably benign Het
Krt40 G A 11: 99,539,885 A321V probably damaging Het
Mapkbp1 T A 2: 119,998,498 V45D probably damaging Het
Mbip A G 12: 56,335,812 Y290H probably damaging Het
Mical1 A G 10: 41,478,199 Y48C probably damaging Het
Mslnl T C 17: 25,744,077 S300P probably benign Het
Nanog T C 6: 122,711,772 L104P probably damaging Het
Olfr1218 A T 2: 89,055,113 H104Q probably damaging Het
Olfr1313 T A 2: 112,071,662 Y307F probably benign Het
Olfr668 A T 7: 104,925,373 N130K probably benign Het
Oxgr1 C A 14: 120,022,787 E3* probably null Het
Pam16 A T 16: 4,616,807 probably benign Het
Plcb1 A T 2: 134,813,686 probably benign Het
Slc25a32 A T 15: 39,105,964 V58E probably benign Het
Slc2a12 G T 10: 22,665,235 V330F probably damaging Het
Slit1 T C 19: 41,603,442 E1247G possibly damaging Het
Supt5 A T 7: 28,320,083 C519S possibly damaging Het
Szt2 A G 4: 118,364,725 probably benign Het
Tas2r118 A G 6: 23,969,181 W294R possibly damaging Het
Tex21 A T 12: 76,198,920 M534K probably damaging Het
Tmem132c T C 5: 127,563,720 I985T probably benign Het
Tmem87b T C 2: 128,823,099 V61A probably benign Het
Trhr2 G A 8: 122,358,481 probably benign Het
Ttc28 A G 5: 111,233,342 D1209G probably benign Het
Uchl5 A G 1: 143,802,202 E148G probably benign Het
Wdr62 T C 7: 30,270,774 I203V possibly damaging Het
Wnk1 T C 6: 119,954,187 I799V possibly damaging Het
Other mutations in Olfr1333
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Olfr1333 APN 4 118829792 missense probably benign 0.30
IGL03023:Olfr1333 APN 4 118830252 missense probably damaging 0.99
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 splice site probably null
R6031:Olfr1333 UTSW 4 118830391 splice site probably null
R7255:Olfr1333 UTSW 4 118829952 missense probably benign 0.17
R7483:Olfr1333 UTSW 4 118830320 missense probably damaging 0.98
R8214:Olfr1333 UTSW 4 118830091 missense probably benign
R8479:Olfr1333 UTSW 4 118830015 missense probably damaging 1.00
R8847:Olfr1333 UTSW 4 118829624 missense probably damaging 0.97
Z1176:Olfr1333 UTSW 4 118830050 missense probably damaging 1.00
Posted On 2016-08-02