Incidental Mutation 'R6483:Or52x1'
ID 517208
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 044615-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6483 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 104852595-104853548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104853500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 17 (T17A)
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: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049601
Gene: ENSMUSG00000048425
AA Change: T17A

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: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216143
AA Change: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216613
AA Change: T17A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 100% (46/46)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T G 14: 29,700,538 (GRCm39) L39R possibly damaging Het
Amer3 T C 1: 34,626,771 (GRCm39) S337P probably damaging Het
Arhgef10l A T 4: 140,344,226 (GRCm39) I12K probably damaging Het
Atp2b4 A G 1: 133,657,618 (GRCm39) V624A possibly damaging Het
BB014433 A T 8: 15,092,208 (GRCm39) L215Q probably benign Het
Bod1l A G 5: 41,978,425 (GRCm39) V963A probably benign Het
Bpifa6 T C 2: 153,832,354 (GRCm39) L287S probably benign Het
Bsnd A T 4: 106,345,212 (GRCm39) L78Q probably damaging Het
C1qtnf3 T C 15: 10,958,156 (GRCm39) probably null Het
Ccdc180 T G 4: 45,921,950 (GRCm39) V1008G probably benign Het
Ccl1 T G 11: 82,068,860 (GRCm39) D59A possibly damaging Het
Cfap58 T C 19: 47,971,891 (GRCm39) I607T probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cntnap4 C T 8: 113,484,105 (GRCm39) P386L possibly damaging Het
Col1a1 G A 11: 94,833,444 (GRCm39) probably null Het
Dnajc13 A T 9: 104,085,003 (GRCm39) D798E probably damaging Het
Eml6 T G 11: 29,699,875 (GRCm39) I1754L probably benign Het
Ercc8 T A 13: 108,320,344 (GRCm39) V310D probably damaging Het
Fat2 G A 11: 55,187,171 (GRCm39) T1225I probably damaging Het
Gba1 A G 3: 89,115,910 (GRCm39) Y510C probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm43302 T A 5: 105,423,726 (GRCm39) M416L probably benign Het
Grxcr2 A T 18: 42,124,955 (GRCm39) V151E probably benign Het
Gtf2ird2 A G 5: 134,240,066 (GRCm39) N296S probably benign Het
Herc1 T A 9: 66,355,811 (GRCm39) I2354N possibly damaging Het
Inhbc G A 10: 127,193,309 (GRCm39) R236* probably null Het
Itpr2 T C 6: 146,013,975 (GRCm39) D2607G possibly damaging Het
Kcnh7 T A 2: 62,676,118 (GRCm39) D298V probably benign Het
Klrb1c A G 6: 128,761,148 (GRCm39) S160P probably benign Het
Mrgpra2a C G 7: 47,076,437 (GRCm39) E274Q probably benign Het
Muc5ac T A 7: 141,356,591 (GRCm39) F1059L probably benign Het
Naglu T C 11: 100,962,007 (GRCm39) I160T probably damaging Het
Nasp A T 4: 116,476,145 (GRCm39) L47Q probably damaging Het
Opa1 C T 16: 29,447,525 (GRCm39) T873I possibly damaging Het
Or10a3n C T 7: 108,493,318 (GRCm39) V99M possibly damaging Het
Or8u10 C A 2: 85,915,784 (GRCm39) M112I probably benign Het
Pttg1 A G 11: 43,315,671 (GRCm39) F48L probably damaging Het
Rho T C 6: 115,909,218 (GRCm39) F85L possibly damaging Het
Rnasel T C 1: 153,630,432 (GRCm39) V316A probably benign Het
Slc36a3 A G 11: 55,026,089 (GRCm39) I243T probably benign Het
Tada2b G A 5: 36,634,029 (GRCm39) T183M possibly damaging Het
Tbc1d22a A G 15: 86,185,768 (GRCm39) M286V possibly damaging Het
Trim69 G T 2: 121,998,081 (GRCm39) E18* probably null Het
Ttn T C 2: 76,772,394 (GRCm39) T2503A possibly damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Zfp654 T A 16: 64,612,310 (GRCm39) N192I possibly damaging Het
Zfp809 G A 9: 22,147,540 (GRCm39) R58H 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
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
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'- CCAGAAAATAGCCAGCATCTTG -3'
(R):5'- GCAAAAGTGATGTGGTGCTG -3'

Sequencing Primer
(F):5'- ATAGCCAGCATCTTGGGCAG -3'
(R):5'- GGTGTTGATATCAGTGAGACCATAC -3'
Posted On 2018-05-21