Incidental Mutation 'IGL02400:Olfr1033'
ID291849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1033
Ensembl Gene ENSMUSG00000045392
Gene Nameolfactory receptor 1033
SynonymsGA_x6K02T2Q125-47516301-47517233, MOR199-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL02400
Quality Score
Status
Chromosome2
Chromosomal Location86020633-86045171 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86042076 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 254 (I254F)
Ref Sequence ENSEMBL: ENSMUSP00000151539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111589] [ENSMUST00000213496] [ENSMUST00000213774] [ENSMUST00000213865] [ENSMUST00000214546] [ENSMUST00000215682] [ENSMUST00000218397]
Predicted Effect probably benign
Transcript: ENSMUST00000111589
AA Change: I254F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107216
Gene: ENSMUSG00000042796
AA Change: I254F

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.4e-50 PFAM
Pfam:7tm_1 39 288 3.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213364
Predicted Effect probably benign
Transcript: ENSMUST00000213496
Predicted Effect probably benign
Transcript: ENSMUST00000213774
Predicted Effect probably benign
Transcript: ENSMUST00000213865
AA Change: I254F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000214546
AA Change: I254F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000215682
AA Change: I254F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000218397
AA Change: I254F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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
2610028H24Rik A G 10: 76,454,810 I128V possibly damaging Het
Arfgef3 G T 10: 18,646,257 Q674K probably damaging Het
Atp6v0a2 T A 5: 124,721,785 N851K probably benign Het
Chrna7 A G 7: 63,099,322 C471R probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Egflam T A 15: 7,247,053 K544M probably benign Het
Erbb3 A C 10: 128,579,524 N385K probably benign Het
Fancm A G 12: 65,113,815 R1388G probably damaging Het
Gm10720 C A 9: 3,016,900 probably null Het
Gm20489 A T X: 101,263,338 N328K possibly damaging Het
Gm5828 G T 1: 16,769,818 noncoding transcript Het
Gnaq T C 19: 16,316,128 Y145H probably damaging Het
Itgbl1 A G 14: 123,846,526 D148G probably damaging Het
Myc T G 15: 61,989,911 probably benign Het
Olfr801 A G 10: 129,669,883 V212A probably damaging Het
Olfr975 A G 9: 39,950,339 V144A probably benign Het
Padi3 T G 4: 140,788,868 K567T probably benign Het
Pi4ka T C 16: 17,293,884 T1576A probably damaging Het
Pikfyve A G 1: 65,252,569 R1316G probably damaging Het
Ryr2 A G 13: 11,605,244 probably benign Het
Sash1 G A 10: 8,733,647 R713* probably null Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tnfsf4 T A 1: 161,395,705 C42S possibly damaging Het
Tpp1 A G 7: 105,747,031 I487T possibly damaging Het
Trim43a T A 9: 88,582,112 N25K probably benign Het
Tuft1 T C 3: 94,635,502 probably benign Het
Usp46 T C 5: 74,037,052 H26R probably benign Het
Zfp560 A T 9: 20,350,600 I85N possibly damaging Het
Other mutations in Olfr1033
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01647:Olfr1033 APN 2 86042097 missense probably damaging 1.00
IGL01745:Olfr1033 APN 2 86042037 missense possibly damaging 0.74
IGL02317:Olfr1033 APN 2 86041569 missense probably damaging 0.99
R0692:Olfr1033 UTSW 2 86042172 missense probably benign 0.00
R1629:Olfr1033 UTSW 2 86041422 missense probably damaging 0.99
R2105:Olfr1033 UTSW 2 86041330 missense probably damaging 0.97
R2288:Olfr1033 UTSW 2 86042033 nonsense probably null
R4451:Olfr1033 UTSW 2 86041959 missense probably damaging 1.00
R4512:Olfr1033 UTSW 2 86041569 missense probably damaging 0.99
R4878:Olfr1033 UTSW 2 86041455 missense probably benign 0.08
R5442:Olfr1033 UTSW 2 86041951 missense probably benign 0.29
R5867:Olfr1033 UTSW 2 86041451 missense probably benign 0.01
R7849:Olfr1033 UTSW 2 86041605 missense probably benign 0.00
R7881:Olfr1033 UTSW 2 86041470 missense probably benign 0.03
R7932:Olfr1033 UTSW 2 86041605 missense probably benign 0.00
R7964:Olfr1033 UTSW 2 86041470 missense probably benign 0.03
Z1088:Olfr1033 UTSW 2 86041719 missense probably damaging 1.00
Posted On2015-04-16