Incidental Mutation 'IGL02303:Or2at1'
ID 287459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2at1
Ensembl Gene ENSMUSG00000073997
Gene Name olfactory receptor family 2 subfamily AT member 1
Synonyms MOR101-2, Olfr521, GA_x6K02T2PBJ9-2443810-2444775
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL02303
Quality Score
Status
Chromosome 7
Chromosomal Location 99416371-99417337 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99417179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 270 (D270G)
Ref Sequence ENSEMBL: ENSMUSP00000151473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098263] [ENSMUST00000219663] [ENSMUST00000220001]
AlphaFold E9Q519
Predicted Effect possibly damaging
Transcript: ENSMUST00000098263
AA Change: D270G

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095863
Gene: ENSMUSG00000073997
AA Change: D270G

DomainStartEndE-ValueType
Pfam:7tm_4 36 313 1.4e-63 PFAM
Pfam:7TM_GPCR_Srsx 40 310 7.4e-6 PFAM
Pfam:7tm_1 46 309 2e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000219663
AA Change: D270G

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220001
AA Change: D270G

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,045,376 (GRCm39) F319S probably damaging Het
Ap3b1 A G 13: 94,664,827 (GRCm39) D922G unknown Het
Bhlhe41 A T 6: 145,809,882 (GRCm39) H107Q probably damaging Het
Csmd2 C A 4: 128,262,801 (GRCm39) H662Q probably benign Het
Dnah8 T C 17: 30,932,021 (GRCm39) V1463A probably benign Het
Ebf3 A T 7: 136,911,094 (GRCm39) V140E probably benign Het
Havcr2 T A 11: 46,370,108 (GRCm39) probably benign Het
Hexb G A 13: 97,313,401 (GRCm39) A485V probably damaging Het
Igkv5-37 T A 6: 69,940,473 (GRCm39) Q57L probably damaging Het
Ipo5 T A 14: 121,154,795 (GRCm39) S40T probably benign Het
Kcnj8 A G 6: 142,515,837 (GRCm39) M90T probably benign Het
Kif21b T A 1: 136,087,495 (GRCm39) L937Q probably damaging Het
Kmt2c A C 5: 25,515,155 (GRCm39) L2896R probably damaging Het
Ldlrap1 A T 4: 134,484,706 (GRCm39) I96N probably damaging Het
Leo1 A G 9: 75,353,281 (GRCm39) probably benign Het
Mbnl2 T C 14: 120,642,059 (GRCm39) M341T probably benign Het
Nfatc2 G A 2: 168,348,821 (GRCm39) R669* probably null Het
Nhlrc2 T A 19: 56,563,280 (GRCm39) V293E probably damaging Het
Or1e17 T C 11: 73,831,276 (GRCm39) F68S possibly damaging Het
Or51ag1 A T 7: 103,155,295 (GRCm39) M286K probably benign Het
Or51ai2 A G 7: 103,586,770 (GRCm39) Q61R possibly damaging Het
Otoa T A 7: 120,732,147 (GRCm39) probably null Het
Pcnt T C 10: 76,278,393 (GRCm39) probably benign Het
Recql4 G T 15: 76,592,771 (GRCm39) Q307K possibly damaging Het
Sp140 T A 1: 85,570,730 (GRCm39) Y453* probably null Het
Sspo G A 6: 48,461,639 (GRCm39) V3600I possibly damaging Het
Sybu T C 15: 44,536,619 (GRCm39) E441G probably benign Het
Syne3 A T 12: 104,929,553 (GRCm39) H222Q probably damaging Het
Tef T C 15: 81,705,496 (GRCm39) V173A probably benign Het
Tlcd1 A G 11: 78,071,160 (GRCm39) probably null Het
Tmod4 C A 3: 95,032,953 (GRCm39) Q30K probably benign Het
Tpgs1 T C 10: 79,511,322 (GRCm39) Y155H probably damaging Het
Trib3 G A 2: 152,185,070 (GRCm39) P60S probably benign Het
Ttn T A 2: 76,560,550 (GRCm39) T20957S probably damaging Het
Vars1 T C 17: 35,234,460 (GRCm39) probably benign Het
Vps13c T C 9: 67,852,763 (GRCm39) probably benign Het
Zc3h4 T C 7: 16,168,002 (GRCm39) S704P unknown Het
Zfp644 G A 5: 106,785,180 (GRCm39) R456W probably damaging Het
Other mutations in Or2at1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02491:Or2at1 APN 7 99,416,540 (GRCm39) missense possibly damaging 0.85
BB007:Or2at1 UTSW 7 99,416,803 (GRCm39) missense probably benign 0.37
BB017:Or2at1 UTSW 7 99,416,803 (GRCm39) missense probably benign 0.37
R0544:Or2at1 UTSW 7 99,416,867 (GRCm39) missense probably benign
R1029:Or2at1 UTSW 7 99,416,431 (GRCm39) missense probably benign 0.01
R1840:Or2at1 UTSW 7 99,416,803 (GRCm39) missense probably benign 0.37
R4709:Or2at1 UTSW 7 99,416,989 (GRCm39) missense probably damaging 1.00
R5215:Or2at1 UTSW 7 99,416,717 (GRCm39) missense probably damaging 1.00
R5752:Or2at1 UTSW 7 99,417,155 (GRCm39) missense probably benign 0.00
R5934:Or2at1 UTSW 7 99,416,596 (GRCm39) missense probably damaging 1.00
R6913:Or2at1 UTSW 7 99,416,924 (GRCm39) missense probably damaging 1.00
R7394:Or2at1 UTSW 7 99,416,553 (GRCm39) missense probably damaging 1.00
R7554:Or2at1 UTSW 7 99,417,210 (GRCm39) missense possibly damaging 0.62
R7930:Or2at1 UTSW 7 99,416,803 (GRCm39) missense probably benign 0.37
R8332:Or2at1 UTSW 7 99,417,334 (GRCm39) makesense probably null
R9613:Or2at1 UTSW 7 99,416,536 (GRCm39) missense probably benign
Z1177:Or2at1 UTSW 7 99,417,121 (GRCm39) missense possibly damaging 0.92
Posted On 2015-04-16