Incidental Mutation 'IGL00159:Or2at4'
ID 1469
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2at4
Ensembl Gene ENSMUSG00000073998
Gene Name olfactory receptor family 2 subfamily AT member 4
Synonyms MOR101-1, Olfr520, GA_x6K02T2PBJ9-2411789-2412739
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # IGL00159
Quality Score
Status
Chromosome 7
Chromosomal Location 99384352-99385302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99384524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 58 (R58H)
Ref Sequence ENSEMBL: ENSMUSP00000151459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098264] [ENSMUST00000220185]
AlphaFold E9Q518
Predicted Effect probably benign
Transcript: ENSMUST00000098264
AA Change: R58H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000095864
Gene: ENSMUSG00000073998
AA Change: R58H

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 benign
Transcript: ENSMUST00000220185
AA Change: R58H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Axin1 A T 17: 26,361,779 (GRCm39) D41V possibly damaging Het
BC034090 C A 1: 155,101,197 (GRCm39) E718* probably null Het
Cdc123 G T 2: 5,809,746 (GRCm39) Q222K probably benign Het
Clip1 A C 5: 123,741,717 (GRCm39) V1053G possibly damaging Het
Dock7 T A 4: 98,952,222 (GRCm39) E416V probably damaging Het
Dydc1 T C 14: 40,809,370 (GRCm39) L143P probably damaging Het
Dync2h1 A G 9: 7,158,839 (GRCm39) V732A probably benign Het
Dzip1l T A 9: 99,519,830 (GRCm39) L119Q probably damaging Het
Erp27 T A 6: 136,886,500 (GRCm39) S178C probably damaging Het
Fbn1 A G 2: 125,239,793 (GRCm39) V298A probably benign Het
Fbxo34 A G 14: 47,766,931 (GRCm39) H97R probably damaging Het
Gm20521 C T 14: 55,122,079 (GRCm39) Q81* probably null Het
Gspt1 T C 16: 11,040,476 (GRCm39) M610V probably damaging Het
Herc1 A G 9: 66,344,964 (GRCm39) Q1919R possibly damaging Het
Il19 A G 1: 130,862,792 (GRCm39) probably benign Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Lrrk2 A G 15: 91,632,002 (GRCm39) K1309E possibly damaging Het
Lurap1 T C 4: 115,994,887 (GRCm39) T115A probably damaging Het
Myo18b G T 5: 113,021,997 (GRCm39) T465K probably benign Het
Nwd1 A T 8: 73,397,705 (GRCm39) D648V probably damaging Het
Or13c25 T G 4: 52,911,618 (GRCm39) M59L possibly damaging Het
Otof T C 5: 30,533,248 (GRCm39) Y1527C probably damaging Het
Otop3 G A 11: 115,235,223 (GRCm39) C285Y probably damaging Het
Parp3 A G 9: 106,348,586 (GRCm39) I478T probably benign Het
Pdzd2 C T 15: 12,458,069 (GRCm39) E265K possibly damaging Het
Pik3c2g T C 6: 139,841,851 (GRCm39) L634P probably damaging Het
Prkg1 C A 19: 31,279,740 (GRCm39) V165L probably benign Het
Riok3 A G 18: 12,281,948 (GRCm39) I306V possibly damaging Het
Ror2 T C 13: 53,267,118 (GRCm39) D439G probably benign Het
Scn2a T A 2: 65,573,434 (GRCm39) I1428N probably damaging Het
Sgcg C T 14: 61,469,924 (GRCm39) D146N probably benign Het
Skic3 T C 13: 76,291,397 (GRCm39) probably null Het
Slc16a9 A G 10: 70,118,529 (GRCm39) R283G probably benign Het
Sptb T C 12: 76,668,105 (GRCm39) D664G probably benign Het
Tmprss3 T A 17: 31,413,982 (GRCm39) D54V probably damaging Het
Tubd1 G T 11: 86,456,555 (GRCm39) V374F probably benign Het
Vmn2r57 A T 7: 41,078,209 (GRCm39) M83K probably benign Het
Vps13c A G 9: 67,853,281 (GRCm39) E2458G probably benign Het
Vps35l G A 7: 118,396,270 (GRCm39) probably null Het
Zhx2 A T 15: 57,686,266 (GRCm39) E545V probably damaging Het
Other mutations in Or2at4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:Or2at4 APN 7 99,384,595 (GRCm39) missense probably damaging 0.96
IGL01932:Or2at4 APN 7 99,384,707 (GRCm39) missense probably damaging 0.99
IGL01987:Or2at4 APN 7 99,384,478 (GRCm39) missense probably damaging 0.98
R0014:Or2at4 UTSW 7 99,385,256 (GRCm39) missense probably damaging 0.99
R0219:Or2at4 UTSW 7 99,385,135 (GRCm39) missense probably benign 0.00
R1577:Or2at4 UTSW 7 99,384,563 (GRCm39) missense probably damaging 1.00
R1931:Or2at4 UTSW 7 99,385,067 (GRCm39) missense possibly damaging 0.73
R6110:Or2at4 UTSW 7 99,384,377 (GRCm39) missense possibly damaging 0.93
R7723:Or2at4 UTSW 7 99,384,884 (GRCm39) missense possibly damaging 0.85
R8821:Or2at4 UTSW 7 99,384,893 (GRCm39) missense possibly damaging 0.94
R9468:Or2at4 UTSW 7 99,385,180 (GRCm39) missense possibly damaging 0.88
Posted On 2011-07-12