Incidental Mutation 'IGL01745:Olfr520'
ID153001
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr520
Ensembl Gene ENSMUSG00000073998
Gene Nameolfactory receptor 520
SynonymsMOR101-1, GA_x6K02T2PBJ9-2411789-2412739
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.286) question?
Stock #IGL01745
Quality Score
Status
Chromosome7
Chromosomal Location99730273-99736399 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99735388 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 82 (T82A)
Ref Sequence ENSEMBL: ENSMUSP00000151459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098264] [ENSMUST00000220185]
Predicted Effect probably damaging
Transcript: ENSMUST00000098264
AA Change: T82A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095864
Gene: ENSMUSG00000073998
AA Change: T82A

DomainStartEndE-ValueType
Pfam:7tm_4 36 313 1.2e-59 PFAM
Pfam:7tm_1 46 295 7.7e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207139
Predicted Effect probably damaging
Transcript: ENSMUST00000220185
AA Change: T82A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700125H20Rik A G 11: 85,172,870 T30A probably benign Het
Ccdc153 T G 9: 44,243,111 S56R possibly damaging Het
D630045J12Rik T C 6: 38,191,720 K965E probably damaging Het
F2rl1 A G 13: 95,513,753 V207A probably benign Het
Matn4 A G 2: 164,400,743 V145A probably damaging Het
Mllt6 T G 11: 97,676,928 L757R probably damaging Het
Olfr1033 T A 2: 86,042,037 S241T possibly damaging Het
Olfr154 T C 2: 85,663,577 N286D possibly damaging Het
Prrc2c A G 1: 162,724,728 S30P probably damaging Het
Setd2 T C 9: 110,594,711 V2278A probably damaging Het
Slco4a1 G A 2: 180,464,679 C218Y probably damaging Het
Vps35 A T 8: 85,273,463 probably benign Het
Zfp593 A G 4: 134,245,044 S82P probably damaging Het
Other mutations in Olfr520
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Olfr520 APN 7 99735317 missense probably benign 0.00
IGL01932:Olfr520 APN 7 99735500 missense probably damaging 0.99
IGL01987:Olfr520 APN 7 99735271 missense probably damaging 0.98
R0014:Olfr520 UTSW 7 99736049 missense probably damaging 0.99
R0219:Olfr520 UTSW 7 99735928 missense probably benign 0.00
R1577:Olfr520 UTSW 7 99735356 missense probably damaging 1.00
R1931:Olfr520 UTSW 7 99735860 missense possibly damaging 0.73
R6110:Olfr520 UTSW 7 99735170 missense possibly damaging 0.93
R7723:Olfr520 UTSW 7 99735677 missense possibly damaging 0.85
Posted On2014-02-04