Incidental Mutation 'IGL02611:Or52n20'
ID 300462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52n20
Ensembl Gene ENSMUSG00000073922
Gene Name olfactory receptor family 52 subfamily N member 20
Synonyms Olfr659, MOR34-4, GA_x6K02T2PBJ9-7298889-7299857
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # IGL02611
Quality Score
Status
Chromosome 7
Chromosomal Location 104319911-104320879 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104320614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 235 (D235V)
Ref Sequence ENSEMBL: ENSMUSP00000149939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098170] [ENSMUST00000214986]
AlphaFold Q8VGV6
Predicted Effect possibly damaging
Transcript: ENSMUST00000098170
AA Change: D235V

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095772
Gene: ENSMUSG00000073922
AA Change: D235V

DomainStartEndE-ValueType
Pfam:7tm_4 33 314 5.2e-99 PFAM
Pfam:7TM_GPCR_Srsx 37 256 7.2e-9 PFAM
Pfam:7tm_1 43 296 4.7e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214986
AA Change: D235V

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chac1 T A 2: 119,183,934 (GRCm39) Y179N probably damaging Het
Cyp2c37 T G 19: 39,982,309 (GRCm39) F103L probably benign Het
Dmp1 A T 5: 104,360,380 (GRCm39) D352V probably damaging Het
Dpp8 T C 9: 64,963,075 (GRCm39) I443T probably benign Het
Furin G A 7: 80,041,526 (GRCm39) A544V probably benign Het
Galntl6 A G 8: 58,411,450 (GRCm39) M260T probably damaging Het
Gm17654 G A 14: 43,816,462 (GRCm39) T47I possibly damaging Het
Hadha A G 5: 30,333,941 (GRCm39) probably benign Het
Itfg2 T A 6: 128,401,688 (GRCm39) N30I probably damaging Het
Kntc1 T A 5: 123,950,128 (GRCm39) L1977H probably damaging Het
Lats1 T C 10: 7,581,551 (GRCm39) F779L possibly damaging Het
Ltbp4 T C 7: 27,010,080 (GRCm39) Y1160C probably damaging Het
Mcm7 C A 5: 138,165,701 (GRCm39) S401I probably damaging Het
Or2ag1b G T 7: 106,287,996 (GRCm39) T314K probably benign Het
Pcdh8 C T 14: 80,005,107 (GRCm39) V876I probably benign Het
Pfpl T C 19: 12,407,647 (GRCm39) S633P probably benign Het
Psg29 G A 7: 16,942,716 (GRCm39) R239Q probably benign Het
St18 T A 1: 6,839,114 (GRCm39) probably benign Het
Syt2 G A 1: 134,669,620 (GRCm39) C87Y possibly damaging Het
Unc79 A G 12: 103,131,967 (GRCm39) T2300A probably damaging Het
Other mutations in Or52n20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01443:Or52n20 APN 7 104,320,278 (GRCm39) missense probably damaging 1.00
IGL01640:Or52n20 APN 7 104,320,871 (GRCm39) missense probably damaging 0.96
IGL01774:Or52n20 APN 7 104,320,149 (GRCm39) missense probably benign 0.01
IGL01912:Or52n20 APN 7 104,320,440 (GRCm39) missense possibly damaging 0.91
IGL02338:Or52n20 APN 7 104,320,888 (GRCm39) utr 3 prime probably benign
IGL02707:Or52n20 APN 7 104,320,136 (GRCm39) missense probably damaging 0.97
R1139:Or52n20 UTSW 7 104,320,098 (GRCm39) missense probably damaging 1.00
R1283:Or52n20 UTSW 7 104,320,150 (GRCm39) missense possibly damaging 0.94
R1867:Or52n20 UTSW 7 104,320,524 (GRCm39) missense possibly damaging 0.89
R2004:Or52n20 UTSW 7 104,320,808 (GRCm39) missense possibly damaging 0.88
R2265:Or52n20 UTSW 7 104,320,067 (GRCm39) missense probably benign 0.00
R4057:Or52n20 UTSW 7 104,320,476 (GRCm39) missense probably damaging 1.00
R4519:Or52n20 UTSW 7 104,320,046 (GRCm39) missense probably damaging 1.00
R4735:Or52n20 UTSW 7 104,320,200 (GRCm39) missense probably benign
R4745:Or52n20 UTSW 7 104,320,711 (GRCm39) missense probably damaging 1.00
R4816:Or52n20 UTSW 7 104,319,942 (GRCm39) missense probably benign 0.04
R5274:Or52n20 UTSW 7 104,320,733 (GRCm39) missense probably damaging 0.99
R6299:Or52n20 UTSW 7 104,320,075 (GRCm39) missense probably benign 0.08
R6312:Or52n20 UTSW 7 104,320,796 (GRCm39) missense probably damaging 1.00
R6770:Or52n20 UTSW 7 104,320,725 (GRCm39) missense probably damaging 1.00
R7293:Or52n20 UTSW 7 104,319,925 (GRCm39) missense probably damaging 1.00
R8119:Or52n20 UTSW 7 104,320,061 (GRCm39) missense probably damaging 1.00
R8425:Or52n20 UTSW 7 104,320,502 (GRCm39) missense probably damaging 1.00
R8493:Or52n20 UTSW 7 104,320,022 (GRCm39) missense probably benign 0.13
R8694:Or52n20 UTSW 7 104,320,296 (GRCm39) missense probably damaging 1.00
R9323:Or52n20 UTSW 7 104,320,220 (GRCm39) missense possibly damaging 0.78
R9327:Or52n20 UTSW 7 104,320,742 (GRCm39) missense probably damaging 1.00
RF004:Or52n20 UTSW 7 104,320,248 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16