Incidental Mutation 'IGL00948:Olfr801'
ID28364
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: 0.052) question?
Stock #IGL00948
Quality Score
Status
Chromosome10
Chromosomal Location129666989-129673865 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 129669887 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Isoleucine at position 211 (L211I)
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: L211I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071941
Gene: ENSMUSG00000058513
AA Change: L211I

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: L211I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216067
AA Change: L211I

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccl2 A T 11: 82,035,732 Q24L possibly damaging Het
Cd33 G A 7: 43,529,558 probably benign Het
Cmya5 T C 13: 93,091,036 I2515V probably benign Het
Cntnap5b A G 1: 100,141,357 T101A probably benign Het
Cyp4a12a T A 4: 115,301,962 M143K probably damaging Het
Ephb4 C A 5: 137,366,659 S663R probably damaging Het
Gm4847 T C 1: 166,630,338 D482G probably benign Het
Gskip C A 12: 105,698,844 N47K probably damaging Het
Kmt2c T C 5: 25,377,161 Y473C probably benign Het
Lrrc7 T A 3: 158,161,557 N849I probably damaging Het
Magel2 T A 7: 62,379,322 V658E unknown Het
Nmral1 C T 16: 4,716,406 G57E probably damaging Het
Olfr921 C T 9: 38,775,812 Q186* probably null Het
Padi3 C A 4: 140,788,943 R542L possibly damaging Het
Plrg1 T C 3: 83,068,119 V260A probably damaging Het
Prex2 A G 1: 11,170,614 H982R probably damaging Het
Rbm26 T A 14: 105,150,343 T448S probably damaging Het
Ryr1 C T 7: 29,020,195 M4262I possibly damaging Het
Slc41a3 A T 6: 90,645,714 D441V probably damaging Het
Slc7a2 A G 8: 40,912,524 E448G probably benign Het
Smtnl2 C A 11: 72,411,241 probably null Het
Tox3 G A 8: 90,270,434 P66L probably damaging Het
Vmn1r19 T C 6: 57,405,262 F267L probably benign Het
Vmn2r12 A G 5: 109,097,675 S64P possibly damaging Het
Zfp764 T C 7: 127,405,204 S252G possibly damaging Het
Other mutations in Olfr801
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02400:Olfr801 APN 10 129669883 missense probably damaging 0.99
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
Z1177:Olfr801 UTSW 10 129669794 missense probably benign 0.39
Posted On2013-04-17