Incidental Mutation 'R0771:Or52x1'
ID 76953
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 038951-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R0771 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104852595-104853548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104853368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 61 (M61L)
Ref Sequence ENSEMBL: ENSMUSP00000148898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050157] [ENSMUST00000214147] [ENSMUST00000216143] [ENSMUST00000216613]
AlphaFold Q8VGX3
Predicted Effect possibly damaging
Transcript: ENSMUST00000050157
AA Change: M61L

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049601
Gene: ENSMUSG00000048425
AA Change: M61L

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 possibly damaging
Transcript: ENSMUST00000214147
AA Change: M61L

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216143
AA Change: M61L

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216613
AA Change: M61L

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 94.4%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T C 11: 76,346,509 (GRCm39) E434G probably damaging Het
Adam19 G A 11: 46,012,280 (GRCm39) V259I possibly damaging Het
Adam5 A G 8: 25,276,315 (GRCm39) S451P probably benign Het
Chd6 G A 2: 160,861,500 (GRCm39) L516F probably damaging Het
Elovl4 A G 9: 83,667,168 (GRCm39) V154A possibly damaging Het
Gadl1 G A 9: 115,773,300 (GRCm39) R114Q probably damaging Het
Ipo13 T C 4: 117,751,843 (GRCm39) N936S possibly damaging Het
Kcnd2 T A 6: 21,216,441 (GRCm39) S48R probably damaging Het
Lgalsl2 A G 7: 5,362,822 (GRCm39) D151G probably damaging Het
Lim2 C A 7: 43,080,127 (GRCm39) A38E possibly damaging Het
Lrp2 A T 2: 69,338,334 (GRCm39) D1177E probably damaging Het
Mdh1 C T 11: 21,507,550 (GRCm39) V300I probably benign Het
Mfsd4b4 T C 10: 39,768,407 (GRCm39) T275A probably benign Het
Myo10 A G 15: 25,778,264 (GRCm39) Y114C probably damaging Het
Ncapg2 T A 12: 116,376,779 (GRCm39) C122* probably null Het
Nod1 T G 6: 54,921,254 (GRCm39) S355R probably damaging Het
Or5ap2 A T 2: 85,680,338 (GRCm39) I181F possibly damaging Het
Pcsk1 A T 13: 75,280,281 (GRCm39) E702V probably benign Het
Ptpn21 T C 12: 98,655,339 (GRCm39) T543A probably damaging Het
Ranbp9 T C 13: 43,615,249 (GRCm39) I190V possibly damaging Het
Sirpd T A 3: 15,385,506 (GRCm39) Q132L probably benign Het
Slc1a4 C T 11: 20,256,467 (GRCm39) V455M probably damaging Het
Srbd1 T A 17: 86,437,682 (GRCm39) E220D probably benign Het
Thsd7a A G 6: 12,327,576 (GRCm39) V1432A probably benign Het
Zfp61 T C 7: 23,992,779 (GRCm39) R71G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GGCAACAACTTCAGGCGTAAGGATG -3'
(R):5'- CTGTAAGGCAAAAGTGATGTGGTGC -3'

Sequencing Primer
(F):5'- TGGGTTACAGATAGCCACAAATC -3'
(R):5'- GTGAGACCATACAACCTGACTTTC -3'
Posted On 2013-10-16