Incidental Mutation 'IGL01745:Or2at4'
ID 153001
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 # IGL01745
Quality Score
Status
Chromosome 7
Chromosomal Location 99384352-99385302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99384595 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold E9Q518
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
Ccdc153 T G 9: 44,154,408 (GRCm39) S56R possibly damaging Het
Chct1 A G 11: 85,063,696 (GRCm39) T30A probably benign Het
D630045J12Rik T C 6: 38,168,655 (GRCm39) K965E probably damaging Het
F2rl1 A G 13: 95,650,261 (GRCm39) V207A probably benign Het
Matn4 A G 2: 164,242,663 (GRCm39) V145A probably damaging Het
Mllt6 T G 11: 97,567,754 (GRCm39) L757R probably damaging Het
Or5g26 T C 2: 85,493,921 (GRCm39) N286D possibly damaging Het
Or5m3b T A 2: 85,872,381 (GRCm39) S241T possibly damaging Het
Prrc2c A G 1: 162,552,297 (GRCm39) S30P probably damaging Het
Setd2 T C 9: 110,423,779 (GRCm39) V2278A probably damaging Het
Slco4a1 G A 2: 180,106,472 (GRCm39) C218Y probably damaging Het
Vps35 A T 8: 86,000,092 (GRCm39) probably benign Het
Zfp593 A G 4: 133,972,355 (GRCm39) S82P probably damaging Het
Other mutations in Or2at4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Or2at4 APN 7 99,384,524 (GRCm39) missense probably benign 0.00
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 2014-02-04