Incidental Mutation 'IGL02400:Olfr801'
ID291844
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr801
Ensembl Gene ENSMUSG00000058513
Gene Nameolfactory receptor 801
SynonymsGA_x6K02T2PULF-11349138-11348182, MOR110-10
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL02400
Quality Score
Status
Chromosome10
Chromosomal Location129666989-129673865 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129669883 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 212 (V212A)
Ref Sequence ENSEMBL: ENSMUSP00000149555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072063] [ENSMUST00000203424] [ENSMUST00000213294] [ENSMUST00000216067]
Predicted Effect probably damaging
Transcript: ENSMUST00000072063
AA Change: V212A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071941
Gene: ENSMUSG00000058513
AA Change: V212A

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.2e-51 PFAM
Pfam:7tm_1 39 288 8.8e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203321
Predicted Effect probably benign
Transcript: ENSMUST00000203424
SMART Domains Protein: ENSMUSP00000145011
Gene: ENSMUSG00000058513

DomainStartEndE-ValueType
Pfam:7tm_4 1 96 5.9e-18 PFAM
Pfam:7tm_1 2 96 1.3e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213294
AA Change: V212A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216067
AA Change: V212A

PolyPhen 2 Score 0.989 (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: 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
Olfr1033 A T 2: 86,042,076 I254F probably benign 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 Olfr801
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00948:Olfr801 APN 10 129669887 missense probably damaging 1.00
IGL02721:Olfr801 APN 10 129670123 missense probably benign 0.08
IGL03107:Olfr801 APN 10 129669940 missense probably benign 0.00
R0114:Olfr801 UTSW 10 129669598 missense probably benign
R0140:Olfr801 UTSW 10 129669688 missense probably damaging 1.00
R0652:Olfr801 UTSW 10 129670379 missense probably benign 0.08
R1375:Olfr801 UTSW 10 129670372 missense probably null 0.97
R1449:Olfr801 UTSW 10 129670369 missense probably damaging 0.99
R2026:Olfr801 UTSW 10 129670465 missense probably damaging 1.00
R2241:Olfr801 UTSW 10 129669895 missense probably damaging 1.00
R2516:Olfr801 UTSW 10 129670286 missense probably damaging 1.00
R2869:Olfr801 UTSW 10 129669759 nonsense probably null
R2869:Olfr801 UTSW 10 129669759 nonsense probably null
R2870:Olfr801 UTSW 10 129669759 nonsense probably null
R2870:Olfr801 UTSW 10 129669759 nonsense probably null
R2873:Olfr801 UTSW 10 129669759 nonsense probably null
R6562:Olfr801 UTSW 10 129670139 missense probably damaging 1.00
R8362:Olfr801 UTSW 10 129670231 missense possibly damaging 0.88
R8503:Olfr801 UTSW 10 129669643 missense probably damaging 0.99
Z1177:Olfr801 UTSW 10 129669794 missense probably benign 0.39
Posted On2015-04-16