Incidental Mutation 'IGL02604:Pon1'
ID 300180
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pon1
Ensembl Gene ENSMUSG00000002588
Gene Name paraoxonase 1
Synonyms Pon
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02604
Quality Score
Status
Chromosome 6
Chromosomal Location 5168101-5193824 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 5168375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 344 (G344V)
Ref Sequence ENSEMBL: ENSMUSP00000002663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002663] [ENSMUST00000035813] [ENSMUST00000176945] [ENSMUST00000177159]
AlphaFold P52430
Predicted Effect probably damaging
Transcript: ENSMUST00000002663
AA Change: G344V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002663
Gene: ENSMUSG00000002588
AA Change: G344V

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: ENSMUST00000035813
SMART Domains Protein: ENSMUSP00000046906
Gene: ENSMUSG00000032827

DomainStartEndE-ValueType
low complexity region 416 435 N/A INTRINSIC
PDZ 513 593 4.26e-18 SMART
low complexity region 608 620 N/A INTRINSIC
Blast:PDZ 741 778 5e-15 BLAST
low complexity region 784 798 N/A INTRINSIC
SAM 986 1052 6.41e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164110
Predicted Effect probably benign
Transcript: ENSMUST00000176945
SMART Domains Protein: ENSMUSP00000135728
Gene: ENSMUSG00000002588

DomainStartEndE-ValueType
PDB:3SRG|A 1 165 9e-86 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000177159
SMART Domains Protein: ENSMUSP00000135195
Gene: ENSMUSG00000002588

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:Arylesterase 145 186 2.1e-7 PFAM
Coding Region Coverage
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,878,845 (GRCm39) V61A probably benign Het
Arfgef1 G A 1: 10,251,275 (GRCm39) probably benign Het
Arhgef4 T A 1: 34,850,804 (GRCm39) L594* probably null Het
Cacna2d3 T C 14: 29,015,066 (GRCm39) T375A possibly damaging Het
Calb2 A C 8: 110,875,160 (GRCm39) Y155D probably damaging Het
Camkmt A G 17: 85,404,053 (GRCm39) T92A possibly damaging Het
Cfap91 A G 16: 38,141,921 (GRCm39) probably benign Het
Chsy3 A G 18: 59,542,187 (GRCm39) S442G probably benign Het
Cyp4f13 T C 17: 33,151,395 (GRCm39) I173V probably benign Het
Dapk1 A G 13: 60,896,134 (GRCm39) T741A probably benign Het
Dennd3 T C 15: 73,428,252 (GRCm39) I866T probably damaging Het
Dhrs2 A T 14: 55,474,778 (GRCm39) I138F possibly damaging Het
Dscaml1 C T 9: 45,655,626 (GRCm39) probably benign Het
Fsbp A G 4: 11,584,147 (GRCm39) E282G probably damaging Het
Hpgds A T 6: 65,100,594 (GRCm39) L128Q probably damaging Het
Hspa9 A G 18: 35,087,266 (GRCm39) V13A unknown Het
Itgb3 A G 11: 104,553,269 (GRCm39) E709G probably damaging Het
Jarid2 T C 13: 45,027,877 (GRCm39) S148P probably damaging Het
Kcna6 C T 6: 126,716,167 (GRCm39) G241R probably benign Het
Kdm5a T A 6: 120,408,941 (GRCm39) N1541K probably benign Het
Kel C A 6: 41,664,516 (GRCm39) E640D probably damaging Het
Lcp1 A T 14: 75,461,566 (GRCm39) I520F probably benign Het
Lgr4 A G 2: 109,841,658 (GRCm39) I524V probably damaging Het
Mup20 A C 4: 61,970,141 (GRCm39) Y139D probably damaging Het
Notch4 T C 17: 34,784,362 (GRCm39) probably null Het
Obox7 A G 7: 14,399,293 (GRCm39) E173G probably benign Het
Or10a49 T A 7: 108,467,857 (GRCm39) Y168F probably benign Het
Or2a25 T A 6: 42,888,992 (GRCm39) C178* probably null Het
Or5w22 A T 2: 87,362,949 (GRCm39) T191S probably damaging Het
Or8b40 C T 9: 38,027,148 (GRCm39) Q19* probably null Het
Or9i1 T A 19: 13,839,170 (GRCm39) N4K probably benign Het
Patl2 T G 2: 121,955,814 (GRCm39) T241P possibly damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Plekhg6 T C 6: 125,354,342 (GRCm39) probably benign Het
Ppp1r21 G T 17: 88,880,171 (GRCm39) K529N probably benign Het
Prdm15 A G 16: 97,623,142 (GRCm39) S203P probably benign Het
Psmc2 T A 5: 22,000,098 (GRCm39) probably null Het
Ptn T C 6: 36,692,653 (GRCm39) M166V unknown Het
Ptpn13 A G 5: 103,649,769 (GRCm39) N391D probably benign Het
Rnf214 A G 9: 45,780,841 (GRCm39) S383P probably damaging Het
Rufy4 T A 1: 74,173,348 (GRCm39) L438H probably damaging Het
Scarf2 A G 16: 17,621,608 (GRCm39) T353A probably damaging Het
Serpinb9e A C 13: 33,441,742 (GRCm39) I225L probably benign Het
Slc25a40 T C 5: 8,503,219 (GRCm39) V312A probably benign Het
Tmc3 A G 7: 83,271,827 (GRCm39) Y993C possibly damaging Het
Trim56 A C 5: 137,141,930 (GRCm39) C529G probably damaging Het
Trim8 T C 19: 46,503,917 (GRCm39) S490P probably damaging Het
Trmt6 A T 2: 132,652,357 (GRCm39) Y147* probably null Het
Vmn2r109 T A 17: 20,760,963 (GRCm39) H798L probably damaging Het
Vps35 A G 8: 86,013,018 (GRCm39) L153P probably damaging Het
Wdr82 T C 9: 106,060,880 (GRCm39) I131T probably damaging Het
Zfp69 A T 4: 120,788,660 (GRCm39) D218E 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
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
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
Posted On 2015-04-16