Incidental Mutation 'IGL02604:Pon1'
ID300180
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pon1
Ensembl Gene ENSMUSG00000002588
Gene Nameparaoxonase 1
SynonymsPon
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02604
Quality Score
Status
Chromosome6
Chromosomal Location5168090-5193946 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 5168375 bp
ZygosityHeterozygous
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]
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: 35,567,948 V61A probably benign Het
Arfgef1 G A 1: 10,181,050 probably benign Het
Arhgef4 T A 1: 34,811,723 L594* probably null Het
Cacna2d3 T C 14: 29,293,109 T375A possibly damaging Het
Calb2 A C 8: 110,148,528 Y155D probably damaging Het
Camkmt A G 17: 85,096,625 T92A possibly damaging Het
Chsy3 A G 18: 59,409,115 S442G probably benign Het
Cyp4f13 T C 17: 32,932,421 I173V probably benign Het
Dapk1 A G 13: 60,748,320 T741A probably benign Het
Dennd3 T C 15: 73,556,403 I866T probably damaging Het
Dhrs2 A T 14: 55,237,321 I138F possibly damaging Het
Dscaml1 C T 9: 45,744,328 probably benign Het
Fsbp A G 4: 11,584,147 E282G probably damaging Het
Hpgds A T 6: 65,123,610 L128Q probably damaging Het
Hspa9 A G 18: 34,954,213 V13A unknown Het
Itgb3 A G 11: 104,662,443 E709G probably damaging Het
Jarid2 T C 13: 44,874,401 S148P probably damaging Het
Kcna6 C T 6: 126,739,204 G241R probably benign Het
Kdm5a T A 6: 120,431,980 N1541K probably benign Het
Kel C A 6: 41,687,582 E640D probably damaging Het
Lcp1 A T 14: 75,224,126 I520F probably benign Het
Lgr4 A G 2: 110,011,313 I524V probably damaging Het
Maats1 A G 16: 38,321,559 probably benign Het
Mup20 A C 4: 62,051,904 Y139D probably damaging Het
Notch4 T C 17: 34,565,388 probably null Het
Obox7 A G 7: 14,665,368 E173G probably benign Het
Olfr1502 T A 19: 13,861,806 N4K probably benign Het
Olfr153 A T 2: 87,532,605 T191S probably damaging Het
Olfr447 T A 6: 42,912,058 C178* probably null Het
Olfr517 T A 7: 108,868,650 Y168F probably benign Het
Olfr889 C T 9: 38,115,852 Q19* probably null Het
Patl2 T G 2: 122,125,333 T241P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Plekhg6 T C 6: 125,377,379 probably benign Het
Ppp1r21 G T 17: 88,572,743 K529N probably benign Het
Prdm15 A G 16: 97,821,942 S203P probably benign Het
Psmc2 T A 5: 21,795,100 probably null Het
Ptn T C 6: 36,715,718 M166V unknown Het
Ptpn13 A G 5: 103,501,903 N391D probably benign Het
Rnf214 A G 9: 45,869,543 S383P probably damaging Het
Rufy4 T A 1: 74,134,189 L438H probably damaging Het
Scarf2 A G 16: 17,803,744 T353A probably damaging Het
Serpinb9e A C 13: 33,257,759 I225L probably benign Het
Slc25a40 T C 5: 8,453,219 V312A probably benign Het
Tmc3 A G 7: 83,622,619 Y993C possibly damaging Het
Trim56 A C 5: 137,113,076 C529G probably damaging Het
Trim8 T C 19: 46,515,478 S490P probably damaging Het
Trmt6 A T 2: 132,810,437 Y147* probably null Het
Vmn2r109 T A 17: 20,540,701 H798L probably damaging Het
Vps35 A G 8: 85,286,389 L153P probably damaging Het
Wdr82 T C 9: 106,183,681 I131T probably damaging Het
Zfp69 A T 4: 120,931,463 D218E probably benign Het
Other mutations in Pon1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Pon1 APN 6 5175760 missense probably damaging 1.00
IGL02511:Pon1 APN 6 5193724 missense probably damaging 1.00
PIT4618001:Pon1 UTSW 6 5168349 missense probably damaging 1.00
R0717:Pon1 UTSW 6 5193674 critical splice donor site probably null
R0838:Pon1 UTSW 6 5175758 missense possibly damaging 0.75
R2365:Pon1 UTSW 6 5171746 missense probably damaging 1.00
R4525:Pon1 UTSW 6 5177412 critical splice acceptor site probably null
R5229:Pon1 UTSW 6 5177295 missense possibly damaging 0.56
R5412:Pon1 UTSW 6 5185314 missense probably damaging 1.00
R5973:Pon1 UTSW 6 5185334 missense probably damaging 1.00
R6594:Pon1 UTSW 6 5185314 missense probably damaging 1.00
R6985:Pon1 UTSW 6 5168345 missense probably benign 0.01
R7439:Pon1 UTSW 6 5177399 missense probably damaging 1.00
R7543:Pon1 UTSW 6 5168400 missense possibly damaging 0.68
R7691:Pon1 UTSW 6 5175819 missense probably benign 0.01
R7756:Pon1 UTSW 6 5168344 missense probably benign
R7758:Pon1 UTSW 6 5168344 missense probably benign
Posted On2015-04-16