Incidental Mutation 'R6594:Pon1'
ID 524753
Institutional Source Beutler Lab
Gene Symbol Pon1
Ensembl Gene ENSMUSG00000002588
Gene Name paraoxonase 1
Synonyms Pon
MMRRC Submission 044718-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6594 (G1)
Quality Score 225.009
Status 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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (52/54)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,113,432 (GRCm39) N296S probably benign Het
Abca13 A T 11: 9,244,632 (GRCm39) N2165I possibly damaging Het
Anpep T A 7: 79,491,109 (GRCm39) probably null Het
Bcl2a1b A C 9: 89,089,647 (GRCm39) I145L probably benign Het
Ccar2 G A 14: 70,377,925 (GRCm39) L687F probably damaging Het
Cd69 A G 6: 129,246,537 (GRCm39) probably null Het
Chchd10 A C 10: 75,772,158 (GRCm39) Q43P probably damaging Het
Ddx55 A G 5: 124,704,988 (GRCm39) E415G probably damaging Het
Defa41 A G 8: 21,692,471 (GRCm39) probably null Het
Dhx40 A T 11: 86,676,599 (GRCm39) C172S possibly damaging Het
Epha1 G A 6: 42,341,625 (GRCm39) T475I probably benign Het
Eri1 T C 8: 35,949,687 (GRCm39) T91A probably damaging Het
Fscn1 C T 5: 142,955,783 (GRCm39) A158V probably benign Het
Gm11437 C T 11: 84,055,386 (GRCm39) G77R probably null Het
Golm1 T C 13: 59,812,041 (GRCm39) N94D possibly damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Haus4 C A 14: 54,781,268 (GRCm39) E269D possibly damaging Het
Hyou1 T C 9: 44,300,619 (GRCm39) M896T probably benign Het
Itpr2 T A 6: 146,091,978 (GRCm39) M2174L possibly damaging Het
Kars1 T C 8: 112,720,299 (GRCm39) probably benign Het
Kif1a T C 1: 92,949,035 (GRCm39) M1488V probably benign Het
Lrp2 T C 2: 69,270,267 (GRCm39) T4106A possibly damaging Het
Lrrc20 G A 10: 61,318,225 (GRCm39) V16I possibly damaging Het
Mecr T A 4: 131,582,004 (GRCm39) V162E probably damaging Het
Ms4a4a C A 19: 11,363,778 (GRCm39) A102E probably damaging Het
Mycn T C 12: 12,990,051 (GRCm39) D115G probably damaging Het
Ninj2 A T 6: 120,175,750 (GRCm39) T138S possibly damaging Het
Oasl2 G A 5: 115,044,836 (GRCm39) V121I probably benign Het
Or10s1 T C 9: 39,986,239 (GRCm39) L216P probably damaging Het
Or2r11 A T 6: 42,437,309 (GRCm39) S215T probably benign Het
Or7g19 T C 9: 18,856,127 (GRCm39) F61S probably damaging Het
Pcdha11 A C 18: 37,144,235 (GRCm39) I109L probably benign Het
Pira1 T A 7: 3,739,498 (GRCm39) K457* probably null Het
Rp1l1 A T 14: 64,269,126 (GRCm39) K1571* probably null Het
Sec24d G T 3: 123,087,412 (GRCm39) G193C probably damaging Het
Sema3b A T 9: 107,476,025 (GRCm39) M732K probably benign Het
Serpinb8 T C 1: 107,525,201 (GRCm39) M1T probably null Het
Sgip1 T A 4: 102,819,676 (GRCm39) V594E probably damaging Het
Slc3a2 T C 19: 8,685,410 (GRCm39) S197G probably damaging Het
Slc44a5 T C 3: 153,964,660 (GRCm39) V520A possibly damaging Het
Surf6 G T 2: 26,792,761 (GRCm39) D13E possibly damaging Het
Tmem94 G A 11: 115,689,112 (GRCm39) R1341H probably damaging Het
Tns2 G A 15: 102,018,994 (GRCm39) R395Q probably benign Het
Traf7 A G 17: 24,728,813 (GRCm39) V591A possibly damaging Het
Trim72 T C 7: 127,609,220 (GRCm39) S341P probably damaging Het
Trps1 A G 15: 50,694,351 (GRCm39) V398A probably damaging Het
Ube2m C A 7: 12,771,617 (GRCm39) E14* probably null Het
Unc119 T A 11: 78,238,046 (GRCm39) Y10N probably damaging Het
Ush2a T C 1: 188,642,995 (GRCm39) L4119P possibly damaging Het
Vcp A T 4: 42,993,826 (GRCm39) I102N probably damaging Het
Vmn2r4 A G 3: 64,296,731 (GRCm39) S685P probably damaging Het
Vmn2r58 T C 7: 41,486,535 (GRCm39) M787V possibly damaging Het
Vmn2r72 T C 7: 85,398,892 (GRCm39) H487R probably benign Het
Xcr1 A G 9: 123,685,309 (GRCm39) I151T probably benign Het
Zfp658 T C 7: 43,216,701 (GRCm39) S24P possibly damaging Het
Zfyve16 T C 13: 92,650,326 (GRCm39) D886G 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
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'- GAACACTCTGGAAGCAACTGG -3'
(R):5'- GAACTCATTCGGAACCAAGC -3'

Sequencing Primer
(F):5'- GCAACTGGCTCCTCTATGG -3'
(R):5'- TTCGGAACCAAGCAAACAGATG -3'
Posted On 2018-06-22