Incidental Mutation 'R6302:Or52x1'
ID 509279
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 044467-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6302 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 104852595-104853548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104852926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 208 (L208H)
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: L208H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049601
Gene: ENSMUSG00000048425
AA Change: L208H

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: L208H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216143
AA Change: L208H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216613
AA Change: L208H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 G T 4: 144,396,760 (GRCm39) S324* probably null Het
Actl11 T G 9: 107,806,772 (GRCm39) V365G probably benign Het
Adgrg6 T A 10: 14,317,227 (GRCm39) D531V probably benign Het
Ankrd11 A G 8: 123,616,728 (GRCm39) S2354P probably benign Het
Ano9 A T 7: 140,684,221 (GRCm39) W514R probably damaging Het
Arfgef3 A T 10: 18,528,589 (GRCm39) V266E probably damaging Het
Bahcc1 T C 11: 120,167,634 (GRCm39) I1345T probably damaging Het
Bpifb4 G A 2: 153,801,587 (GRCm39) M355I probably benign Het
Catsperb T C 12: 101,554,402 (GRCm39) S699P possibly damaging Het
Cdh23 T G 10: 60,140,872 (GRCm39) I3161L possibly damaging Het
Chd3 T C 11: 69,244,604 (GRCm39) T1257A probably damaging Het
Cnnm4 C T 1: 36,539,036 (GRCm39) T638I probably benign Het
Cspg4b A G 13: 113,504,646 (GRCm39) D1925G probably damaging Het
Cyp26c1 A G 19: 37,674,936 (GRCm39) T86A probably damaging Het
Cyp3a63-ps A G 5: 145,564,847 (GRCm39) noncoding transcript Het
Dnah14 T A 1: 181,428,771 (GRCm39) I259N possibly damaging Het
Dnah17 T C 11: 118,019,981 (GRCm39) D22G probably benign Het
Epn2 T G 11: 61,437,312 (GRCm39) T87P probably damaging Het
Fbxl18 A G 5: 142,874,578 (GRCm39) L81P probably damaging Het
Gas1 A T 13: 60,323,970 (GRCm39) D221E probably damaging Het
Gm8356 T C 14: 17,691,275 (GRCm39) Y130C probably damaging Het
Gpr151 T G 18: 42,712,459 (GRCm39) K73T probably damaging Het
Helq A C 5: 100,946,305 (GRCm39) V12G probably damaging Het
Inpp4b A G 8: 82,494,806 (GRCm39) T74A probably benign Het
Kirrel3 G A 9: 34,919,045 (GRCm39) V234I probably damaging Het
Kxd1 T A 8: 70,972,713 (GRCm39) probably null Het
Lif T C 11: 4,218,924 (GRCm39) Y68H probably damaging Het
Map6 A G 7: 98,985,314 (GRCm39) Q406R probably damaging Het
Mcoln3 A T 3: 145,830,527 (GRCm39) M86L probably benign Het
Mei1 T A 15: 81,987,439 (GRCm39) Y834* probably null Het
Mroh1 T C 15: 76,320,319 (GRCm39) probably null Het
Myo15b T C 11: 115,777,065 (GRCm39) I2319T possibly damaging Het
Myo7b T G 18: 32,127,439 (GRCm39) D621A probably damaging Het
Naip5 C T 13: 100,359,674 (GRCm39) A521T possibly damaging Het
Nek7 T C 1: 138,426,351 (GRCm39) D254G probably damaging Het
Nsd2 A G 5: 34,024,921 (GRCm39) R560G possibly damaging Het
Or2t46 T C 11: 58,472,464 (GRCm39) F265L probably benign Het
Pbx1 T A 1: 168,018,910 (GRCm39) T312S probably benign Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Pitrm1 A G 13: 6,610,097 (GRCm39) S390G probably damaging Het
Plcxd3 C T 15: 4,546,239 (GRCm39) T81M probably damaging Het
Pmf1 C T 3: 88,307,017 (GRCm39) probably null Het
Rabep1 T C 11: 70,825,947 (GRCm39) V739A probably damaging Het
Rex2 A G 4: 147,142,451 (GRCm39) D313G possibly damaging Het
Rpia C T 6: 70,750,485 (GRCm39) V216I probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Sec13 T A 6: 113,712,167 (GRCm39) H56L probably damaging Het
Sec16a A T 2: 26,315,817 (GRCm39) V1733D probably damaging Het
Sim2 G A 16: 93,898,089 (GRCm39) A108T probably damaging Het
Slc27a5 T C 7: 12,722,479 (GRCm39) D665G probably damaging Het
Slc38a6 T A 12: 73,383,849 (GRCm39) V180E probably damaging Het
Smarcad1 T G 6: 65,052,122 (GRCm39) N38K possibly damaging Het
Spem2 T C 11: 69,709,091 (GRCm39) T45A possibly damaging Het
Svil T C 18: 5,057,432 (GRCm39) S714P probably benign Het
Taar7b T A 10: 23,876,158 (GRCm39) S108T possibly damaging Het
Tbl3 T C 17: 24,923,645 (GRCm39) K256E probably benign Het
Tcam1 T G 11: 106,177,276 (GRCm39) C423G probably damaging Het
Trpm4 A T 7: 44,977,143 (GRCm39) probably null Het
Ttyh2 T C 11: 114,592,662 (GRCm39) C231R probably damaging Het
Ugt3a1 C T 15: 9,365,397 (GRCm39) P337S probably damaging Het
Vmn2r83 A C 10: 79,304,837 (GRCm39) T16P possibly damaging Het
Vps52 T C 17: 34,182,189 (GRCm39) F589S probably damaging Het
Xkr4 T C 1: 3,286,961 (GRCm39) T410A probably damaging Het
Xkr9 A G 1: 13,742,726 (GRCm39) T4A probably damaging Het
Yars2 T C 16: 16,122,438 (GRCm39) L268P probably damaging Het
Zbtb41 C A 1: 139,357,027 (GRCm39) N427K possibly damaging Het
Zeb2 T C 2: 44,887,771 (GRCm39) T414A 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
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'- CGCTGCATGACCACAGAAAG -3'
(R):5'- TCTGTAACCCATTGCATTATGC -3'

Sequencing Primer
(F):5'- CACAGAAAGAAAGCCAGGTCCATAG -3'
(R):5'- ACGCCTGAAGTTGTTGCCAAG -3'
Posted On 2018-04-02