Incidental Mutation 'R7804:Or52x1'
ID 600667
Institutional Source Beutler Lab
Gene Symbol Or52x1
Ensembl Gene ENSMUSG00000048425
Gene Name olfactory receptor family 52 subfamily X member 1
Synonyms MOR35-1, Olfr686, GA_x6K02T2PBJ9-7832633-7831680
MMRRC Submission 045859-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R7804 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 104852595-104853548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104853367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 61 (M61K)
Ref Sequence ENSEMBL: ENSMUSP00000148898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050157] [ENSMUST00000214147] [ENSMUST00000216143] [ENSMUST00000216613]
AlphaFold Q8VGX3
Predicted Effect probably damaging
Transcript: ENSMUST00000050157
AA Change: M61K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049601
Gene: ENSMUSG00000048425
AA Change: M61K

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 damaging
Transcript: ENSMUST00000214147
AA Change: M61K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216143
AA Change: M61K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216613
AA Change: M61K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 95% (55/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGTGTATGTGT GTGTGT 11: 43,478,241 (GRCm39) probably benign Het
Ago4 A T 4: 126,406,423 (GRCm39) C296S probably benign Het
Apbb1 A G 7: 105,215,807 (GRCm39) L401P probably damaging Het
Cacnb2 C A 2: 14,972,848 (GRCm39) P252T probably benign Het
Ctnna2 C T 6: 77,618,357 (GRCm39) V202I probably benign Het
Dapk1 A T 13: 60,873,153 (GRCm39) I352F probably benign Het
Dexi T C 16: 10,360,349 (GRCm39) D69G possibly damaging Het
Dlg5 T C 14: 24,215,388 (GRCm39) E645G possibly damaging Het
Dnah3 A G 7: 119,551,841 (GRCm39) I2826T probably damaging Het
Dnah3 A G 7: 119,610,235 (GRCm39) W1734R probably damaging Het
Dtna A G 18: 23,728,666 (GRCm39) K287R probably damaging Het
Elovl5 A G 9: 77,887,105 (GRCm39) probably null Het
Ess2 T A 16: 17,729,031 (GRCm39) I47F probably damaging Het
Fam222b C A 11: 78,044,979 (GRCm39) P180Q probably benign Het
Fat3 C T 9: 15,901,888 (GRCm39) V3046I probably benign Het
Fem1a A G 17: 56,565,068 (GRCm39) D387G probably damaging Het
Frmd5 A G 2: 121,422,225 (GRCm39) Y33H probably damaging Het
Gucy2g A T 19: 55,216,584 (GRCm39) L464H probably benign Het
Ints2 T C 11: 86,103,489 (GRCm39) E1189G possibly damaging Het
Itgb4 T C 11: 115,894,510 (GRCm39) V1355A probably damaging Het
Lepr A T 4: 101,639,783 (GRCm39) S750C probably damaging Het
Lingo1 T C 9: 56,526,798 (GRCm39) D603G probably benign Het
Map4k3 A C 17: 80,922,499 (GRCm39) V474G probably damaging Het
Myl4 T A 11: 104,475,787 (GRCm39) V167E probably damaging Het
Naa25 T C 5: 121,562,652 (GRCm39) V478A probably benign Het
Neurl4 T A 11: 69,796,700 (GRCm39) L487H probably benign Het
Nkx2-9 C T 12: 56,658,917 (GRCm39) R99H probably damaging Het
Or4c110 C G 2: 88,831,855 (GRCm39) R259P unknown Het
Or6c76 A G 10: 129,612,091 (GRCm39) I103V probably benign Het
Pcdhga9 A G 18: 37,871,132 (GRCm39) I320M probably damaging Het
Pi15 T A 1: 17,695,137 (GRCm39) C251* probably null Het
Pkhd1l1 A T 15: 44,460,534 (GRCm39) K4248* probably null Het
Prkg1 C T 19: 30,556,032 (GRCm39) V625I probably benign Het
Prkg1 G A 19: 30,602,170 (GRCm39) A362V possibly damaging Het
Prol1 C T 5: 88,476,264 (GRCm39) T218I unknown Het
Ptpro G A 6: 137,376,599 (GRCm39) probably null Het
Rev3l T A 10: 39,699,481 (GRCm39) I1326K probably benign Het
Shank1 C A 7: 43,962,308 (GRCm39) R60S unknown Het
Slc24a2 A G 4: 86,909,774 (GRCm39) V648A probably damaging Het
Slc35d3 T C 10: 19,725,116 (GRCm39) T247A probably damaging Het
Specc1 C T 11: 62,096,223 (GRCm39) T895I probably damaging Het
Spta1 A G 1: 174,023,471 (GRCm39) E626G possibly damaging Het
Syngr2 C A 11: 117,703,401 (GRCm39) S72R possibly damaging Het
Synj2 T A 17: 6,069,809 (GRCm39) L490Q unknown Het
Tbc1d9 T C 8: 83,963,341 (GRCm39) L351P possibly damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Themis3 G A 17: 66,862,605 (GRCm39) T451I probably benign Het
Tia1 T C 6: 86,401,364 (GRCm39) S146P probably benign Het
Tpp2 T A 1: 44,022,441 (GRCm39) N946K probably benign Het
Tpr A T 1: 150,308,310 (GRCm39) R1688S probably damaging Het
Trav12-1 A G 14: 53,775,988 (GRCm39) Q47R possibly damaging Het
Ttll9 G A 2: 152,844,278 (GRCm39) probably null Het
Ttn G A 2: 76,537,585 (GRCm39) T34781M possibly damaging Het
V1ra8 A G 6: 90,180,298 (GRCm39) Y167C probably damaging Het
Vegfb T C 19: 6,963,707 (GRCm39) D84G probably damaging Het
Vmn2r14 A T 5: 109,368,324 (GRCm39) L223M probably benign Het
Wdr26 A G 1: 181,010,387 (GRCm39) I554T probably damaging Het
Other mutations in Or52x1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01580:Or52x1 APN 7 104,853,113 (GRCm39) missense probably benign 0.01
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
Predicted Primers PCR Primer
(F):5'- AGATAGCCACAAATCGGTCC -3'
(R):5'- TGTGTGGGAGAGCAACTATG -3'

Sequencing Primer
(F):5'- AATCGGTCCAAGGCCATG -3'
(R):5'- GCTGCCCATGTTTGGATA -3'
Posted On 2019-11-26