Incidental Mutation 'IGL01580:Or52x1'
ID 91367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52x1
Ensembl Gene ENSMUSG00000048425
Gene Name olfactory receptor family 52 subfamily X member 1
Synonyms MOR35-1, Olfr686, GA_x6K02T2PBJ9-7832633-7831680
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL01580
Quality Score
Status
Chromosome 7
Chromosomal Location 104852595-104853548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104853113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 146 (I146V)
Ref Sequence ENSEMBL: ENSMUSP00000148898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050157] [ENSMUST00000214147] [ENSMUST00000216143] [ENSMUST00000216613]
AlphaFold Q8VGX3
Predicted Effect probably benign
Transcript: ENSMUST00000050157
AA Change: I146V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000049601
Gene: ENSMUSG00000048425
AA Change: I146V

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 8e-92 PFAM
Pfam:7TM_GPCR_Srsx 37 229 3e-9 PFAM
Pfam:7tm_1 43 294 9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214147
AA Change: I146V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000216143
AA Change: I146V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000216613
AA Change: I146V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,243,527 (GRCm39) V1797I probably benign Het
Abi3bp A G 16: 56,495,573 (GRCm39) E865G probably damaging Het
Ahnak A G 19: 8,980,203 (GRCm39) T496A probably benign Het
BC030500 T C 8: 59,366,054 (GRCm39) probably benign Het
Col6a4 A C 9: 105,945,397 (GRCm39) Y906D probably damaging Het
Dip2c T G 13: 9,687,124 (GRCm39) probably null Het
Frem2 A G 3: 53,562,596 (GRCm39) I637T probably damaging Het
Guf1 T C 5: 69,722,764 (GRCm39) probably benign Het
Htr1f G A 16: 64,746,198 (GRCm39) R365* probably null Het
Oog4 T C 4: 143,165,682 (GRCm39) N155S probably benign Het
Or10ag2 A T 2: 87,248,880 (GRCm39) I163F probably benign Het
Phactr3 C A 2: 177,911,297 (GRCm39) probably benign Het
Pi4k2b T C 5: 52,912,003 (GRCm39) V300A possibly damaging Het
Pik3c2g A G 6: 139,599,514 (GRCm39) D210G probably damaging Het
Pxdn A G 12: 30,034,492 (GRCm39) T182A probably benign Het
Scn10a A G 9: 119,456,225 (GRCm39) V1199A probably damaging Het
Scrn2 A G 11: 96,922,956 (GRCm39) H133R probably benign Het
Shq1 G A 6: 100,550,705 (GRCm39) S411L possibly damaging Het
Tmcc1 A C 6: 116,019,946 (GRCm39) V462G possibly damaging Het
Other mutations in Or52x1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0112:Or52x1 UTSW 7 104,852,866 (GRCm39) missense probably benign 0.05
R0234:Or52x1 UTSW 7 104,852,821 (GRCm39) missense probably damaging 1.00
R0234:Or52x1 UTSW 7 104,852,821 (GRCm39) missense probably damaging 1.00
R0541:Or52x1 UTSW 7 104,853,367 (GRCm39) missense probably damaging 0.99
R0771:Or52x1 UTSW 7 104,853,368 (GRCm39) missense possibly damaging 0.91
R3944:Or52x1 UTSW 7 104,853,162 (GRCm39) nonsense probably null
R4079:Or52x1 UTSW 7 104,853,228 (GRCm39) missense probably damaging 1.00
R4929:Or52x1 UTSW 7 104,853,232 (GRCm39) missense probably damaging 1.00
R4978:Or52x1 UTSW 7 104,853,398 (GRCm39) missense probably benign 0.02
R6267:Or52x1 UTSW 7 104,852,599 (GRCm39) missense probably damaging 1.00
R6302:Or52x1 UTSW 7 104,852,926 (GRCm39) missense probably damaging 1.00
R6483:Or52x1 UTSW 7 104,853,500 (GRCm39) missense probably benign
R7787:Or52x1 UTSW 7 104,853,252 (GRCm39) nonsense probably null
R7804:Or52x1 UTSW 7 104,853,367 (GRCm39) missense probably damaging 0.99
Posted On 2013-12-09