Incidental Mutation 'R1793:Or52r1'
ID 201938
Institutional Source Beutler Lab
Gene Symbol Or52r1
Ensembl Gene ENSMUSG00000062142
Gene Name olfactory receptor family 52 subfamily R member 1
Synonyms MOR30-1, GA_x6K02T2PBJ9-5599295-5598351, Olfr569
MMRRC Submission 039823-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1793 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102536414-102537358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102537250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 37 (Y37H)
Ref Sequence ENSEMBL: ENSMUSP00000149088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078191] [ENSMUST00000217024]
AlphaFold Q8VGZ2
Predicted Effect probably benign
Transcript: ENSMUST00000078191
AA Change: Y37H

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077321
Gene: ENSMUSG00000062142
AA Change: Y37H

Pfam:7tm_4 33 312 1.2e-113 PFAM
Pfam:7TM_GPCR_Srsx 37 229 1.3e-9 PFAM
Pfam:7tm_1 43 294 1.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217024
AA Change: Y37H

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.4280 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 100% (122/122)
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: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,144 (GRCm39) H571Q probably damaging Het
Abcf2 T A 5: 24,773,774 (GRCm39) M372L probably benign Het
Acaca A C 11: 84,206,795 (GRCm39) T1552P probably damaging Het
Acaca A G 11: 84,229,219 (GRCm39) D1682G probably damaging Het
Acvr1b T C 15: 101,091,906 (GRCm39) V62A probably benign Het
Aimp1 C T 3: 132,379,825 (GRCm39) V97M probably benign Het
Aldh1l1 C T 6: 90,554,813 (GRCm39) T557I possibly damaging Het
Alpk1 T C 3: 127,471,447 (GRCm39) T1012A probably damaging Het
Amot G A X: 144,233,585 (GRCm39) probably benign Het
Arap1 T A 7: 101,037,829 (GRCm39) H477Q probably benign Het
Arhgap18 T A 10: 26,736,732 (GRCm39) probably benign Het
Arhgef10l C T 4: 140,242,684 (GRCm39) V862M probably damaging Het
Arl4d A G 11: 101,557,554 (GRCm39) I27V probably benign Het
Asb18 G A 1: 89,942,277 (GRCm39) P8L probably damaging Het
Ash1l A G 3: 88,977,616 (GRCm39) H2682R probably damaging Het
Aspm T A 1: 139,385,079 (GRCm39) V241E probably benign Het
Atf7ip G T 6: 136,586,217 (GRCm39) probably benign Het
AY358078 T G 14: 52,042,051 (GRCm39) M142R unknown Het
C3 T A 17: 57,526,592 (GRCm39) K796N possibly damaging Het
Ceacam16 T C 7: 19,590,041 (GRCm39) T301A probably damaging Het
Ceacam5 T G 7: 17,481,320 (GRCm39) Y356D probably benign Het
Cep192 C T 18: 67,984,838 (GRCm39) A1616V possibly damaging Het
Cfap91 T A 16: 38,141,781 (GRCm39) N384Y possibly damaging Het
Cherp A T 8: 73,216,994 (GRCm39) H645Q probably benign Het
CK137956 T C 4: 127,845,242 (GRCm39) D167G probably benign Het
Clcn1 T A 6: 42,275,860 (GRCm39) probably null Het
Cntn1 C T 15: 92,189,552 (GRCm39) T625I possibly damaging Het
Cpn2 T A 16: 30,078,142 (GRCm39) N520Y probably damaging Het
Crocc G A 4: 140,746,620 (GRCm39) R1762W probably damaging Het
Cts3 C A 13: 61,715,967 (GRCm39) V100F probably benign Het
Ddx56 A T 11: 6,216,934 (GRCm39) V87D probably damaging Het
Dnah9 C T 11: 66,010,420 (GRCm39) probably null Het
Dock1 T A 7: 134,700,456 (GRCm39) probably null Het
Dst T A 1: 34,191,552 (GRCm39) Y291* probably null Het
Eif4g3 T C 4: 137,898,442 (GRCm39) I1071T probably damaging Het
Fblim1 T C 4: 141,322,549 (GRCm39) Q78R probably damaging Het
Fcamr C T 1: 130,739,284 (GRCm39) P195S probably benign Het
Fcho1 G A 8: 72,161,666 (GRCm39) Q835* probably null Het
Frem3 A G 8: 81,339,741 (GRCm39) N678S probably benign Het
Frk G A 10: 34,483,878 (GRCm39) R413H probably benign Het
Gm10619 C A 7: 73,459,758 (GRCm39) noncoding transcript Het
Gm12185 G A 11: 48,806,583 (GRCm39) R203* probably null Het
Gm12886 A G 4: 121,280,174 (GRCm39) V34A probably benign Het
Gna12 A T 5: 140,746,707 (GRCm39) I246N probably damaging Het
Gpm6a T C 8: 55,507,867 (GRCm39) M201T probably benign Het
Gpsm2 T G 3: 108,608,225 (GRCm39) D220A probably benign Het
Grip2 C G 6: 91,760,623 (GRCm39) V325L probably benign Het
Grk5 C A 19: 61,065,200 (GRCm39) A288D probably damaging Het
Herpud2 G A 9: 25,021,953 (GRCm39) A231V possibly damaging Het
Hmcn1 T C 1: 150,624,834 (GRCm39) S1024G probably benign Het
Hp1bp3 A G 4: 137,957,820 (GRCm39) D295G probably damaging Het
Igsf21 T C 4: 139,761,703 (GRCm39) H325R probably damaging Het
Ing2 T A 8: 48,122,364 (GRCm39) L61F probably damaging Het
Jak3 T C 8: 72,138,590 (GRCm39) probably benign Het
Kcnn3 T A 3: 89,516,712 (GRCm39) C374S probably benign Het
Klk1b22 A G 7: 43,765,775 (GRCm39) probably benign Het
Larp1 T C 11: 57,940,764 (GRCm39) M630T possibly damaging Het
Lhx5 T A 5: 120,572,725 (GRCm39) C115S probably damaging Het
Lmcd1 C A 6: 112,305,712 (GRCm39) T271K probably benign Het
Lpar1 G A 4: 58,486,798 (GRCm39) R158* probably null Het
Lyst T A 13: 13,821,668 (GRCm39) C1347* probably null Het
Map3k8 G A 18: 4,332,389 (GRCm39) Q441* probably null Het
Mboat1 T C 13: 30,403,633 (GRCm39) V144A probably damaging Het
Mcur1 C T 13: 43,713,491 (GRCm39) G38S unknown Het
Med13 T A 11: 86,220,177 (GRCm39) M276L probably benign Het
Mefv A G 16: 3,526,528 (GRCm39) S699P possibly damaging Het
Mfsd4a C A 1: 131,987,077 (GRCm39) A62S probably damaging Het
Mmp27 A G 9: 7,571,459 (GRCm39) M1V probably null Het
Myo1c C T 11: 75,548,415 (GRCm39) T58I probably damaging Het
Myom3 A T 4: 135,538,066 (GRCm39) D1316V probably benign Het
Naa25 T A 5: 121,555,478 (GRCm39) C235S possibly damaging Het
Naa25 C A 5: 121,558,656 (GRCm39) R333S probably damaging Het
Nav3 G A 10: 109,539,233 (GRCm39) T2056I probably benign Het
Nol4 A G 18: 22,902,878 (GRCm39) Y378H probably damaging Het
Npat G A 9: 53,463,589 (GRCm39) R124Q probably damaging Het
Npr3 T A 15: 11,848,665 (GRCm39) E434V probably benign Het
Nptx2 A G 5: 144,485,130 (GRCm39) T208A probably benign Het
Obscn C T 11: 58,968,606 (GRCm39) V2798M probably damaging Het
Odad4 C A 11: 100,460,679 (GRCm39) probably null Het
Or10j7 A T 1: 173,011,976 (GRCm39) H8Q probably benign Het
Or5b122 C T 19: 13,562,779 (GRCm39) T37I probably benign Het
Padi1 G A 4: 140,541,967 (GRCm39) P652S probably damaging Het
Pcdh1 G T 18: 38,331,938 (GRCm39) P355Q probably damaging Het
Pck2 G A 14: 55,781,422 (GRCm39) R189H possibly damaging Het
Pcsk5 T A 19: 17,432,114 (GRCm39) K1500N possibly damaging Het
Phc3 A T 3: 31,002,865 (GRCm39) S218T probably damaging Het
Piezo2 T A 18: 63,239,355 (GRCm39) M510L possibly damaging Het
Polr1g T C 7: 19,091,904 (GRCm39) T68A possibly damaging Het
Ppp1r3a A T 6: 14,754,717 (GRCm39) Y177N probably damaging Het
Psme2b A T 11: 48,836,361 (GRCm39) D195E probably damaging Het
Ptprr T C 10: 116,088,827 (GRCm39) V463A probably damaging Het
Pwwp2b G A 7: 138,836,281 (GRCm39) R574Q probably damaging Het
Rap1gds1 T A 3: 138,756,314 (GRCm39) T14S possibly damaging Het
Rbm11 A T 16: 75,397,685 (GRCm39) K205M probably damaging Het
Rfx1 T A 8: 84,793,050 (GRCm39) probably benign Het
Rnasel C A 1: 153,630,169 (GRCm39) H228Q probably damaging Het
Sap130 T A 18: 31,831,640 (GRCm39) I710K probably benign Het
Slc27a4 C A 2: 29,695,733 (GRCm39) D89E probably benign Het
Spata31d1b T C 13: 59,863,779 (GRCm39) V309A probably benign Het
Syt7 T G 19: 10,421,354 (GRCm39) Y420D probably damaging Het
Tanc2 A G 11: 105,515,859 (GRCm39) probably null Het
Tbc1d10b A G 7: 126,802,930 (GRCm39) S333P possibly damaging Het
Tenm2 G A 11: 35,914,209 (GRCm39) P2442S probably damaging Het
Tenm3 C T 8: 49,127,579 (GRCm39) C33Y probably damaging Het
Timmdc1 A G 16: 38,319,419 (GRCm39) L245P possibly damaging Het
Tlr5 T C 1: 182,800,012 (GRCm39) F5L probably benign Het
Ttll4 T A 1: 74,726,999 (GRCm39) F784L possibly damaging Het
Tulp4 A G 17: 6,189,387 (GRCm39) T70A possibly damaging Het
Txndc17 T A 11: 72,099,571 (GRCm39) N81K probably benign Het
Ubr3 C T 2: 69,830,895 (GRCm39) probably benign Het
Uri1 A C 7: 37,681,116 (GRCm39) V96G probably damaging Het
Uspl1 T A 5: 149,150,246 (GRCm39) I482N probably damaging Het
Vmn1r229 A G 17: 21,034,974 (GRCm39) N73S possibly damaging Het
Vwa7 G T 17: 35,243,388 (GRCm39) G689* probably null Het
Zfp114 T A 7: 23,877,164 (GRCm39) probably null Het
Zfp618 A G 4: 63,051,474 (GRCm39) S659G probably damaging Het
Zfp872 A G 9: 22,111,349 (GRCm39) K275R probably damaging Het
Zzef1 C T 11: 72,777,535 (GRCm39) P1789S probably damaging Het
Other mutations in Or52r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01965:Or52r1 APN 7 102,536,814 (GRCm39) missense probably damaging 1.00
IGL02505:Or52r1 APN 7 102,536,814 (GRCm39) missense probably damaging 1.00
IGL02885:Or52r1 APN 7 102,537,243 (GRCm39) missense possibly damaging 0.83
IGL03339:Or52r1 APN 7 102,536,989 (GRCm39) missense probably benign 0.02
R0383:Or52r1 UTSW 7 102,536,458 (GRCm39) missense possibly damaging 0.91
R1767:Or52r1 UTSW 7 102,536,833 (GRCm39) missense probably damaging 1.00
R1812:Or52r1 UTSW 7 102,537,285 (GRCm39) missense probably benign 0.32
R6061:Or52r1 UTSW 7 102,537,158 (GRCm39) missense probably benign 0.31
R7855:Or52r1 UTSW 7 102,536,835 (GRCm39) missense probably benign 0.01
R8155:Or52r1 UTSW 7 102,536,452 (GRCm39) missense probably benign 0.00
R8890:Or52r1 UTSW 7 102,536,699 (GRCm39) nonsense probably null
R9131:Or52r1 UTSW 7 102,537,186 (GRCm39) missense probably benign 0.07
R9188:Or52r1 UTSW 7 102,536,596 (GRCm39) missense possibly damaging 0.95
R9398:Or52r1 UTSW 7 102,537,000 (GRCm39) missense probably damaging 1.00
Z1177:Or52r1 UTSW 7 102,536,968 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-06-23