Incidental Mutation 'IGL01088:Olfr1333'
ID 50876
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
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL01088
Quality Score
Status
Chromosome 4
Chromosomal Location 118827659-118836279 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118829792 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 216 (V216A)
Ref Sequence ENSEMBL: ENSMUSP00000075398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076019] [ENSMUST00000106361] [ENSMUST00000214477]
AlphaFold Q7TQV7
Predicted Effect probably benign
Transcript: ENSMUST00000076019
AA Change: V216A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000075398
Gene: ENSMUSG00000110947
AA Change: V216A

DomainStartEndE-ValueType
Pfam:7tm_1 42 291 4.1e-31 PFAM
Pfam:7tm_4 140 284 2.9e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106361
AA Change: V217A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101968
Gene: ENSMUSG00000073768
AA Change: V217A

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 6.1e-56 PFAM
Pfam:7tm_1 43 292 3.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214477
AA Change: V215A

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000214477
AA Change: V215A

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 C T 10: 89,725,841 V148I probably damaging Het
Aspn G T 13: 49,566,553 K348N probably benign Het
C1qtnf9 T C 14: 60,779,756 V245A probably benign Het
Chd4 T C 6: 125,122,468 probably benign Het
Clcn3 A T 8: 60,937,347 C187S probably damaging Het
Dcxr T C 11: 120,726,167 I123M possibly damaging Het
Fstl1 T C 16: 37,826,813 Y182H probably damaging Het
Ghrhr T C 6: 55,379,193 probably null Het
Gm4788 T C 1: 139,698,085 probably benign Het
Gpr179 T C 11: 97,337,801 E1176G probably damaging Het
H2-T22 A G 17: 36,041,919 S99P probably damaging Het
Igkv4-79 T A 6: 69,043,126 K68N probably damaging Het
Kpna6 C T 4: 129,655,483 V169I probably damaging Het
Krit1 G T 5: 3,812,844 V278F probably damaging Het
Mrpl4 T C 9: 21,003,331 S68P probably damaging Het
Mylk3 A C 8: 85,351,957 probably null Het
Nfasc A T 1: 132,642,776 probably benign Het
Ntsr1 T C 2: 180,542,542 F346S probably damaging Het
Olfr1461 T C 19: 13,165,371 M119T probably damaging Het
Phox2a T C 7: 101,821,735 F145L probably damaging Het
Rbm7 A G 9: 48,490,849 V146A probably damaging Het
Sall3 A T 18: 80,973,232 Y494N probably damaging Het
Ssbp1 T A 6: 40,478,070 probably benign Het
Stard7 T C 2: 127,270,826 L4P probably damaging Het
Stk-ps2 A T 1: 46,029,850 noncoding transcript Het
Tmem67 G A 4: 12,063,126 R507C probably damaging Het
Unc13c A T 9: 73,932,281 D429E possibly damaging Het
Unc93b1 A G 19: 3,935,356 probably null Het
Vmn1r171 T C 7: 23,632,827 V159A probably damaging Het
Zfp608 T C 18: 54,898,087 E927G probably benign Het
Zfp820 T A 17: 21,821,181 K16* probably null Het
Zgrf1 T C 3: 127,588,141 probably benign Het
Other mutations in Olfr1333
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03023:Olfr1333 APN 4 118830252 missense probably damaging 0.99
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 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
R9661:Olfr1333 UTSW 4 118830329 missense probably benign 0.45
Z1176:Olfr1333 UTSW 4 118830050 missense probably damaging 1.00
Posted On 2013-06-21