Incidental Mutation 'R4049:Or52d3'
ID 314037
Institutional Source Beutler Lab
Gene Symbol Or52d3
Ensembl Gene ENSMUSG00000073926
Gene Name olfactory receptor family 52 subfamily D member 3
Synonyms GA_x6K02T2PBJ9-7206970-7207923, Olfr653, MOR33-1
MMRRC Submission 041616-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R4049 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104228831-104229876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104229575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 241 (F241L)
Ref Sequence ENSEMBL: ENSMUSP00000149192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098174] [ENSMUST00000215585] [ENSMUST00000217466]
AlphaFold E9PVA0
Predicted Effect probably benign
Transcript: ENSMUST00000098174
AA Change: F241L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095776
Gene: ENSMUSG00000073926
AA Change: F241L

DomainStartEndE-ValueType
Pfam:7tm_4 37 316 2.2e-111 PFAM
Pfam:7TM_GPCR_Srsx 41 179 4.6e-10 PFAM
Pfam:7tm_1 47 298 5.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215585
AA Change: F241L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217466
AA Change: F241L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,832,404 (GRCm39) E1190V probably damaging Het
Arhgef10 A G 8: 15,029,998 (GRCm39) T928A probably benign Het
Arhgef10l T A 4: 140,242,762 (GRCm39) I836F probably benign Het
Blm T A 7: 80,152,610 (GRCm39) T446S probably benign Het
Ccdc63 T A 5: 122,260,813 (GRCm39) Q237L probably damaging Het
Ccn5 A G 2: 163,670,904 (GRCm39) D137G probably damaging Het
Cep57l1 G T 10: 41,605,356 (GRCm39) R130S probably damaging Het
Clstn2 T G 9: 97,339,613 (GRCm39) E786A possibly damaging Het
Col16a1 C T 4: 129,962,545 (GRCm39) P540L probably damaging Het
Csf2 A G 11: 54,140,159 (GRCm39) F61L probably damaging Het
Ctr9 C T 7: 110,654,750 (GRCm39) R1094C unknown Het
Cyp3a41a A G 5: 145,650,350 (GRCm39) C98R probably damaging Het
Dthd1 T A 5: 62,984,508 (GRCm39) C404* probably null Het
Egfem1 A C 3: 29,740,880 (GRCm39) H518P probably benign Het
Elf3 T C 1: 135,182,015 (GRCm39) S369G probably benign Het
Eml6 C T 11: 29,788,577 (GRCm39) V503M probably damaging Het
Enthd1 T C 15: 80,444,240 (GRCm39) D105G probably damaging Het
Eral1 A G 11: 77,966,428 (GRCm39) L250P probably damaging Het
Gdf15 A T 8: 71,082,605 (GRCm39) M167K probably benign Het
Ggps1 T C 13: 14,228,284 (GRCm39) K300E probably benign Het
Gm8074 G A 9: 78,229,618 (GRCm39) noncoding transcript Het
Herc3 A G 6: 58,853,822 (GRCm39) I623V probably damaging Het
Mad1l1 A G 5: 140,118,571 (GRCm39) S457P probably damaging Het
Map1lc3a G T 2: 155,119,462 (GRCm39) V91F possibly damaging Het
Map4k3 A G 17: 80,913,394 (GRCm39) V617A probably benign Het
Mov10l1 T A 15: 88,879,235 (GRCm39) probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Ncor1 G T 11: 62,220,494 (GRCm39) probably null Het
Nfe2 C T 15: 103,159,364 (GRCm39) E36K possibly damaging Het
Oprm1 G A 10: 6,779,087 (GRCm39) V95I probably benign Het
Or4a78 T C 2: 89,498,006 (GRCm39) I75V probably benign Het
Or4c107 A G 2: 88,789,617 (GRCm39) K269R probably benign Het
Or5d46 T C 2: 88,174,144 (GRCm39) probably null Het
Pcdha9 T A 18: 37,130,995 (GRCm39) H21Q probably benign Het
Pcolce2 A T 9: 95,520,808 (GRCm39) I62F probably damaging Het
Pfpl T A 19: 12,407,053 (GRCm39) C435S probably damaging Het
Pkhd1l1 G A 15: 44,361,953 (GRCm39) C542Y probably damaging Het
Plekha5 T C 6: 140,529,597 (GRCm39) S75P probably damaging Het
Pphln1 C A 15: 93,362,987 (GRCm39) A202E probably damaging Het
Ppp1r1a A G 15: 103,440,881 (GRCm39) L92P probably damaging Het
Prokr2 T C 2: 132,223,414 (GRCm39) T43A probably benign Het
Rai14 T C 15: 10,592,298 (GRCm39) N199S probably benign Het
Rasgrp2 T C 19: 6,454,757 (GRCm39) L199P probably damaging Het
Rnf213 A C 11: 119,373,274 (GRCm39) M4939L possibly damaging Het
Slc23a2 C T 2: 131,902,603 (GRCm39) R533Q probably benign Het
Slc7a7 T C 14: 54,610,548 (GRCm39) probably null Het
Snrpd2 T A 7: 18,885,232 (GRCm39) V31E probably damaging Het
Spire1 G T 18: 67,662,101 (GRCm39) probably null Het
Srsf4 T C 4: 131,627,854 (GRCm39) probably benign Het
Tcf20 A G 15: 82,737,630 (GRCm39) S1274P probably damaging Het
Tcof1 C A 18: 60,965,975 (GRCm39) A376S possibly damaging Het
Thsd1 T A 8: 22,733,180 (GRCm39) Y76N possibly damaging Het
Timm44 A G 8: 4,310,561 (GRCm39) V397A probably benign Het
Tmc6 G A 11: 117,669,087 (GRCm39) T89I possibly damaging Het
Trbv31 C A 6: 41,534,639 (GRCm39) C107F probably damaging Het
Trim37 T A 11: 87,031,429 (GRCm39) probably null Het
Ttll5 T C 12: 86,059,573 (GRCm39) V1226A probably benign Het
Ube3b T C 5: 114,550,931 (GRCm39) V865A probably benign Het
Vmn2r86 A T 10: 130,282,966 (GRCm39) M550K probably damaging Het
Vps54 C A 11: 21,250,183 (GRCm39) T373N probably benign Het
Wdr64 T G 1: 175,633,422 (GRCm39) I891S probably benign Het
Zfhx4 C T 3: 5,463,919 (GRCm39) S1384L probably damaging Het
Zfp703 A G 8: 27,469,113 (GRCm39) E259G possibly damaging Het
Zfp933 T C 4: 147,910,969 (GRCm39) H209R probably damaging Het
Zfp980 A G 4: 145,429,170 (GRCm39) H633R probably damaging Het
Other mutations in Or52d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01588:Or52d3 APN 7 104,229,150 (GRCm39) missense probably damaging 1.00
I2288:Or52d3 UTSW 7 104,229,593 (GRCm39) missense probably damaging 1.00
PIT4131001:Or52d3 UTSW 7 104,229,237 (GRCm39) missense probably damaging 0.99
R0325:Or52d3 UTSW 7 104,229,567 (GRCm39) missense probably damaging 1.00
R1579:Or52d3 UTSW 7 104,229,268 (GRCm39) nonsense probably null
R1599:Or52d3 UTSW 7 104,228,855 (GRCm39) start codon destroyed probably null
R1956:Or52d3 UTSW 7 104,229,116 (GRCm39) missense probably damaging 1.00
R2134:Or52d3 UTSW 7 104,228,848 (GRCm39) start gained probably benign
R2418:Or52d3 UTSW 7 104,229,141 (GRCm39) missense probably benign 0.00
R2483:Or52d3 UTSW 7 104,229,149 (GRCm39) missense probably damaging 1.00
R3623:Or52d3 UTSW 7 104,229,149 (GRCm39) missense probably damaging 1.00
R4755:Or52d3 UTSW 7 104,229,268 (GRCm39) nonsense probably null
R4757:Or52d3 UTSW 7 104,229,404 (GRCm39) missense possibly damaging 0.95
R4828:Or52d3 UTSW 7 104,229,180 (GRCm39) missense possibly damaging 0.62
R4842:Or52d3 UTSW 7 104,229,422 (GRCm39) missense probably benign 0.45
R5496:Or52d3 UTSW 7 104,229,701 (GRCm39) missense probably damaging 1.00
R6830:Or52d3 UTSW 7 104,229,447 (GRCm39) missense probably damaging 1.00
R7320:Or52d3 UTSW 7 104,229,645 (GRCm39) nonsense probably null
R7590:Or52d3 UTSW 7 104,229,149 (GRCm39) missense probably damaging 1.00
R7968:Or52d3 UTSW 7 104,229,595 (GRCm39) nonsense probably null
R8491:Or52d3 UTSW 7 104,229,242 (GRCm39) missense probably damaging 0.99
R9306:Or52d3 UTSW 7 104,229,128 (GRCm39) missense probably damaging 1.00
R9521:Or52d3 UTSW 7 104,228,855 (GRCm39) start codon destroyed probably null
R9557:Or52d3 UTSW 7 104,229,768 (GRCm39) missense probably damaging 1.00
R9682:Or52d3 UTSW 7 104,229,434 (GRCm39) missense probably damaging 1.00
RF020:Or52d3 UTSW 7 104,229,497 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GAACGTTTACCCTTCTGTGGAC -3'
(R):5'- TGGTATTGATGCCATAGACTAGGG -3'

Sequencing Primer
(F):5'- TGTGGACATCATATAATCCCTCAC -3'
(R):5'- ATGCCATAGACTAGGGGGTTG -3'
Posted On 2015-04-30