Incidental Mutation 'IGL01932:Olfr520'
ID180451
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 #IGL01932
Quality Score
Status
Chromosome7
Chromosomal Location99730273-99736399 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 99735500 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 119 (I119N)
Ref Sequence ENSEMBL: ENSMUSP00000151459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098264] [ENSMUST00000220185]
Predicted Effect probably damaging
Transcript: ENSMUST00000098264
AA Change: I119N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095864
Gene: ENSMUSG00000073998
AA Change: I119N

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: I119N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; 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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik A G 12: 55,304,125 N73S probably benign Het
Adcy1 T A 11: 7,100,565 probably benign Het
Adipor2 G A 6: 119,361,864 H143Y probably damaging Het
Ankar A G 1: 72,698,987 I12T probably benign Het
Ankdd1a C T 9: 65,507,611 probably benign Het
Cadps A G 14: 12,373,609 probably benign Het
Cdh22 G A 2: 165,170,808 T119M probably benign Het
Col6a6 T A 9: 105,689,626 K2223N probably benign Het
Dnah11 G A 12: 118,192,270 probably benign Het
Ezh2 T C 6: 47,532,048 T674A probably damaging Het
Ffar4 A G 19: 38,097,530 E135G probably damaging Het
Fsip2 G A 2: 82,994,005 R6694Q possibly damaging Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4222 A G 2: 90,148,457 probably benign Het
Hipk3 T A 2: 104,470,981 N289Y probably damaging Het
Kndc1 T C 7: 139,923,790 L1003P probably damaging Het
Mdk T C 2: 91,931,116 N72S probably damaging Het
Olfr666 T A 7: 104,893,218 I137F probably damaging Het
Pafah1b3 A T 7: 25,297,091 C56S probably benign Het
Pdzrn4 A G 15: 92,746,278 I189V probably damaging Het
Plekhh2 A G 17: 84,577,261 N801S probably benign Het
Pramel7 A T 2: 87,491,113 S193T possibly damaging Het
Prkag1 A G 15: 98,814,531 I171T probably damaging Het
Rap1b A T 10: 117,822,860 F23I probably damaging Het
Scamp2 A G 9: 57,561,116 probably benign Het
Ttn A T 2: 76,884,474 probably benign Het
Vmn2r17 A T 5: 109,427,050 R74S probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wif1 G T 10: 121,096,035 C288F probably damaging Het
Other mutations in Olfr520
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Olfr520 APN 7 99735317 missense probably benign 0.00
IGL01745:Olfr520 APN 7 99735388 missense probably damaging 0.96
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 On2014-05-07