Incidental Mutation 'R5412:Pon1'
ID 427531
Institutional Source Beutler Lab
Gene Symbol Pon1
Ensembl Gene ENSMUSG00000002588
Gene Name paraoxonase 1
Synonyms Pon
MMRRC Submission 042981-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5412 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 5168101-5193824 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5185314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 62 (L62P)
Ref Sequence ENSEMBL: ENSMUSP00000135195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002663] [ENSMUST00000176945] [ENSMUST00000177159]
AlphaFold P52430
Predicted Effect probably damaging
Transcript: ENSMUST00000002663
AA Change: L62P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002663
Gene: ENSMUSG00000002588
AA Change: L62P

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 noncoding transcript
Transcript: ENSMUST00000176933
Predicted Effect probably damaging
Transcript: ENSMUST00000176945
AA Change: L62P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135728
Gene: ENSMUSG00000002588
AA Change: L62P

DomainStartEndE-ValueType
PDB:3SRG|A 1 165 9e-86 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000177159
AA Change: L62P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135195
Gene: ENSMUSG00000002588
AA Change: L62P

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:Arylesterase 145 186 2.1e-7 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,886,036 (GRCm39) N36Y probably damaging Het
Ankfn1 T A 11: 89,396,007 (GRCm39) E246D probably benign Het
Arid1a T C 4: 133,446,913 (GRCm39) probably benign Het
Bbs7 A T 3: 36,653,522 (GRCm39) D300E probably benign Het
C3 T C 17: 57,527,187 (GRCm39) D754G probably benign Het
Ccpg1 A T 9: 72,917,588 (GRCm39) Q240L probably damaging Het
Cdk13 G A 13: 17,941,115 (GRCm39) P650S probably damaging Het
Celsr2 G T 3: 108,307,311 (GRCm39) S1933Y probably damaging Het
Cep135 T A 5: 76,764,709 (GRCm39) H562Q probably benign Het
Cyp26a1 G T 19: 37,689,630 (GRCm39) C442F probably damaging Het
Dnah7a T C 1: 53,674,503 (GRCm39) S425G probably benign Het
Espn C T 4: 152,212,582 (GRCm39) V752M probably damaging Het
Glyr1 A G 16: 4,854,297 (GRCm39) S113P possibly damaging Het
Grk4 A T 5: 34,902,612 (GRCm39) Y388F probably benign Het
H2-T15 C T 17: 36,366,936 (GRCm39) C369Y probably benign Het
Heca C A 10: 17,778,044 (GRCm39) V518F probably damaging Het
Hmcn2 C T 2: 31,236,629 (GRCm39) P391S possibly damaging Het
Hnrnpl A G 7: 28,510,529 (GRCm39) probably benign Het
Hsd3b2 A G 3: 98,619,208 (GRCm39) S246P possibly damaging Het
Ifna11 C T 4: 88,738,380 (GRCm39) P62L probably damaging Het
Katnal2 A T 18: 77,090,131 (GRCm39) V292D probably damaging Het
Krt16 T A 11: 100,137,593 (GRCm39) I371F probably damaging Het
Ly6g2 A T 15: 75,089,669 (GRCm39) E59V probably damaging Het
Map10 A T 8: 126,397,724 (GRCm39) L372F probably damaging Het
Megf10 A T 18: 57,324,219 (GRCm39) M87L probably damaging Het
Ncoa6 T C 2: 155,249,701 (GRCm39) H1201R possibly damaging Het
Ndc80 C A 17: 71,821,226 (GRCm39) D241Y probably damaging Het
Ndufs1 T C 1: 63,205,508 (GRCm39) M94V possibly damaging Het
Nkx2-6 G T 14: 69,412,195 (GRCm39) R121L probably damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or6a2 A G 7: 106,600,842 (GRCm39) V75A probably damaging Het
Otop1 A G 5: 38,455,328 (GRCm39) I241V probably benign Het
Panx2 C A 15: 88,953,135 (GRCm39) P542H possibly damaging Het
Pcdha5 C A 18: 37,095,510 (GRCm39) P673Q probably benign Het
Prdx6 A T 1: 161,071,860 (GRCm39) I102N probably damaging Het
Prkd3 T A 17: 79,262,140 (GRCm39) I725F possibly damaging Het
Selenon T C 4: 134,269,749 (GRCm39) N395S probably benign Het
Serpinb8 G A 1: 107,533,616 (GRCm39) E224K probably benign Het
Serpinb9b A G 13: 33,213,496 (GRCm39) M18V probably benign Het
Smc6 A G 12: 11,335,400 (GRCm39) E318G possibly damaging Het
Srrt A T 5: 137,294,549 (GRCm39) Y786N probably damaging Het
Stk36 G T 1: 74,644,615 (GRCm39) probably null Het
Stpg1 T A 4: 135,252,786 (GRCm39) L179Q possibly damaging Het
Stra8 G A 6: 34,907,885 (GRCm39) M1I probably null Het
Tiam1 G T 16: 89,681,753 (GRCm39) H408Q possibly damaging Het
Tm2d1 G A 4: 98,253,855 (GRCm39) T106I probably damaging Het
Tmem150b A C 7: 4,719,368 (GRCm39) I184S probably null Het
Vmn1r216 A G 13: 23,284,081 (GRCm39) I255V probably benign Het
Vps13b G A 15: 35,533,531 (GRCm39) A868T probably damaging Het
Wdr81 C T 11: 75,341,620 (GRCm39) D1216N probably null Het
Zfp26 T C 9: 20,349,535 (GRCm39) Y343C possibly damaging Het
Zfp276 A T 8: 123,982,520 (GRCm39) I95F probably damaging Het
Zfp330 T C 8: 83,490,865 (GRCm39) E315G probably benign Het
Zfp683 C A 4: 133,781,862 (GRCm39) P56Q probably damaging Het
Zpld1 T A 16: 55,052,646 (GRCm39) S323C possibly damaging 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
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
R7691:Pon1 UTSW 6 5,175,819 (GRCm39) missense probably benign 0.01
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'- GCAACTGGCTCCTCTATGGTTATC -3'
(R):5'- GAACTCATTCGGAACCAAGC -3'

Sequencing Primer
(F):5'- ATCCACGTCTTATGTGCACAC -3'
(R):5'- TTCGGAACCAAGCAAACAGATG -3'
Posted On 2016-09-01