Incidental Mutation 'R7691:Pon1'
ID 593385
Institutional Source Beutler Lab
Gene Symbol Pon1
Ensembl Gene ENSMUSG00000002588
Gene Name paraoxonase 1
Synonyms Pon
MMRRC Submission 045755-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7691 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 5168101-5193824 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 5175819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 235 (V235I)
Ref Sequence ENSEMBL: ENSMUSP00000002663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002663] [ENSMUST00000176945] [ENSMUST00000177159]
AlphaFold P52430
Predicted Effect probably benign
Transcript: ENSMUST00000002663
AA Change: V235I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000002663
Gene: ENSMUSG00000002588
AA Change: V235I

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:SGL 83 308 1.9e-13 PFAM
Pfam:Arylesterase 168 253 9e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176945
SMART Domains Protein: ENSMUSP00000135728
Gene: ENSMUSG00000002588

DomainStartEndE-ValueType
PDB:3SRG|A 1 165 9e-86 PDB
Predicted Effect
SMART Domains Protein: ENSMUSP00000135195
Gene: ENSMUSG00000002588
AA Change: V168I

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:Arylesterase 145 186 2.1e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol. Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found in a cluster of three related paraoxonase genes at 7q21.3. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased susceptibility to organophosphate toxicity and atherosclerosis when fed a high-fat/cholesterol diet. Females exhibit increased LDL and VLD cholesterol levels. Macrophages show increased oxidative stress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 A T 6: 92,773,219 (GRCm39) C1763S probably damaging Het
Adcy3 T C 12: 4,256,540 (GRCm39) V782A probably benign Het
Arhgef17 G A 7: 100,578,849 (GRCm39) R700C probably damaging Het
Atxn2l T C 7: 126,091,782 (GRCm39) probably null Het
Bach2 A G 4: 32,580,271 (GRCm39) E832G probably damaging Het
Brpf3 G C 17: 29,025,805 (GRCm39) A293P probably damaging Het
Cacfd1 T C 2: 26,900,106 (GRCm39) L36P probably damaging Het
Camsap2 T C 1: 136,220,742 (GRCm39) E268G probably damaging Het
Ccnjl A T 11: 43,474,028 (GRCm39) Q201L probably benign Het
Cdan1 A G 2: 120,560,048 (GRCm39) V372A probably damaging Het
Cenpf C A 1: 189,390,404 (GRCm39) E1143* probably null Het
Colgalt1 A T 8: 72,073,398 (GRCm39) M340L probably benign Het
Crybg3 A G 16: 59,376,497 (GRCm39) Y1586H not run Het
Csmd3 A G 15: 47,604,569 (GRCm39) I1058T Het
Dock1 G A 7: 134,739,886 (GRCm39) probably null Het
Dzank1 G A 2: 144,348,091 (GRCm39) T225I probably damaging Het
Eif3c G A 7: 126,151,162 (GRCm39) R721W possibly damaging Het
Fdps A G 3: 89,006,674 (GRCm39) V72A probably benign Het
Filip1l A G 16: 57,392,796 (GRCm39) N1128S probably benign Het
Fmnl2 T A 2: 52,991,510 (GRCm39) Y342N unknown Het
Gria1 A T 11: 57,127,813 (GRCm39) I410F possibly damaging Het
Gsdmc4 C A 15: 63,765,640 (GRCm39) S303I probably damaging Het
Herc2 C T 7: 55,841,593 (GRCm39) P3491S probably benign Het
Ift25 A G 4: 107,130,886 (GRCm39) I59V probably benign Het
Lama2 T C 10: 27,084,389 (GRCm39) H927R possibly damaging Het
Lrrc8e T C 8: 4,284,534 (GRCm39) M253T probably damaging Het
Ltn1 G T 16: 87,195,574 (GRCm39) H1317Q probably damaging Het
Map6 C T 7: 98,985,499 (GRCm39) L671F possibly damaging Het
Mki67 C T 7: 135,303,721 (GRCm39) V716I not run Het
Mllt10 G C 2: 18,208,423 (GRCm39) S694T probably null Het
Mllt10 A G 2: 18,208,422 (GRCm39) S694G possibly damaging Het
Mtcl1 A G 17: 66,687,352 (GRCm39) L518S probably damaging Het
Or2ad1 G A 13: 21,327,140 (GRCm39) A29V probably benign Het
Pcdh10 G T 3: 45,335,632 (GRCm39) D649Y probably damaging Het
Pdgfrb C T 18: 61,194,340 (GRCm39) T39M probably benign Het
Pls1 T C 9: 95,655,726 (GRCm39) E342G probably benign Het
Rhobtb3 A T 13: 76,027,056 (GRCm39) V439E probably damaging Het
Septin8 A G 11: 53,428,414 (GRCm39) T355A probably benign Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Ssc5d C T 7: 4,947,168 (GRCm39) T1174I probably benign Het
Sspo A T 6: 48,461,163 (GRCm39) T3535S probably benign Het
Stk39 A G 2: 68,301,983 (GRCm39) V80A probably damaging Het
Sult2b1 T C 7: 45,384,708 (GRCm39) I123V probably benign Het
Sv2a A T 3: 96,095,727 (GRCm39) I348F probably benign Het
Taar8b T A 10: 23,967,436 (GRCm39) R253* probably null Het
Tbc1d4 T C 14: 101,745,077 (GRCm39) K183R probably damaging Het
Tet2 T A 3: 133,192,610 (GRCm39) D608V probably damaging Het
Tnfsf14 T A 17: 57,501,024 (GRCm39) T16S possibly damaging Het
Togaram2 A G 17: 72,023,405 (GRCm39) T774A probably benign Het
Tshr C A 12: 91,464,515 (GRCm39) A87E probably benign Het
Tsn T C 1: 118,237,505 (GRCm39) D53G probably benign Het
Usp37 TC T 1: 74,525,919 (GRCm39) probably null Het
Vav2 T A 2: 27,187,750 (GRCm39) probably null Het
Vmn2r52 T A 7: 9,893,109 (GRCm39) I677F probably damaging Het
Vmn2r65 T A 7: 84,592,851 (GRCm39) Y452F probably benign Het
Vmn2r79 A G 7: 86,687,111 (GRCm39) R831G probably damaging Het
Zfp821 T C 8: 110,447,871 (GRCm39) S71P probably damaging Het
Zwilch T A 9: 64,063,373 (GRCm39) I286F probably benign Het
Other mutations in Pon1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Pon1 APN 6 5,175,760 (GRCm39) missense probably damaging 1.00
IGL02511:Pon1 APN 6 5,193,724 (GRCm39) missense probably damaging 1.00
IGL02604:Pon1 APN 6 5,168,375 (GRCm39) missense probably damaging 1.00
PIT4618001:Pon1 UTSW 6 5,168,349 (GRCm39) missense probably damaging 1.00
R0717:Pon1 UTSW 6 5,193,674 (GRCm39) critical splice donor site probably null
R0838:Pon1 UTSW 6 5,175,758 (GRCm39) missense possibly damaging 0.75
R2365:Pon1 UTSW 6 5,171,746 (GRCm39) missense probably damaging 1.00
R4525:Pon1 UTSW 6 5,177,412 (GRCm39) critical splice acceptor site probably null
R5229:Pon1 UTSW 6 5,177,295 (GRCm39) missense possibly damaging 0.56
R5412:Pon1 UTSW 6 5,185,314 (GRCm39) missense probably damaging 1.00
R5973:Pon1 UTSW 6 5,185,334 (GRCm39) missense probably damaging 1.00
R6594:Pon1 UTSW 6 5,185,314 (GRCm39) missense probably damaging 1.00
R6985:Pon1 UTSW 6 5,168,345 (GRCm39) missense probably benign 0.01
R7439:Pon1 UTSW 6 5,177,399 (GRCm39) missense probably damaging 1.00
R7543:Pon1 UTSW 6 5,168,400 (GRCm39) missense possibly damaging 0.68
R7756:Pon1 UTSW 6 5,168,344 (GRCm39) missense probably benign
R7758:Pon1 UTSW 6 5,168,344 (GRCm39) missense probably benign
R8444:Pon1 UTSW 6 5,177,327 (GRCm39) nonsense probably null
R8478:Pon1 UTSW 6 5,185,318 (GRCm39) missense probably damaging 1.00
R8517:Pon1 UTSW 6 5,171,769 (GRCm39) missense probably benign 0.02
R9346:Pon1 UTSW 6 5,193,722 (GRCm39) missense probably benign
R9773:Pon1 UTSW 6 5,177,339 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CACAATGATACTGATGGCTCCTAAC -3'
(R):5'- TTAAGCAGGTGAGCCCTAAGG -3'

Sequencing Primer
(F):5'- CTGATGGCTCCTAACCAATAAGTG -3'
(R):5'- AGGTGAGCCCTAAGGACTCATC -3'
Posted On 2019-11-12