Incidental Mutation 'IGL01983:Pon3'
ID183527
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pon3
Ensembl Gene ENSMUSG00000029759
Gene Nameparaoxonase 3
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01983
Quality Score
Status
Chromosome6
Chromosomal Location5220852-5256286 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 5240974 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 69 (L69S)
Ref Sequence ENSEMBL: ENSMUSP00000031773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031773] [ENSMUST00000125686] [ENSMUST00000129344]
Predicted Effect probably damaging
Transcript: ENSMUST00000031773
AA Change: L69S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031773
Gene: ENSMUSG00000029759
AA Change: L69S

DomainStartEndE-ValueType
Pfam:SGL 84 304 8.8e-9 PFAM
Pfam:Arylesterase 167 252 2.5e-43 PFAM
Pfam:Str_synth 184 250 3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125686
SMART Domains Protein: ENSMUSP00000135603
Gene: ENSMUSG00000029759

DomainStartEndE-ValueType
Pfam:Arylesterase 94 135 9.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129344
SMART Domains Protein: ENSMUSP00000118137
Gene: ENSMUSG00000029759

DomainStartEndE-ValueType
PDB:4HHQ|A 1 67 3e-17 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176948
SMART Domains Protein: ENSMUSP00000135554
Gene: ENSMUSG00000029759

DomainStartEndE-ValueType
PDB:3SRG|A 3 90 1e-33 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the paraoxonase family and lies in a cluster on chromosome 7 with the other two family members. The encoded protein is secreted into the bloodstream and associates with high-density lipoprotein (HDL). The protein also rapidly hydrolyzes lactones and can inhibit the oxidation of low-density lipoprotein (LDL), a function that is believed to slow the initiation and progression of atherosclerosis. Alternatively spliced variants which encode different protein isoforms have been described; however, only one has been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show prenatal and postnatal lethality. Homozygotes for a different null allele are viable but show altered lipid and bile acid metabolism, impaired mitochondrial respiration, and increased susceptibility to diet-induced atherosclerosis, gallstone formation, and obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl G A 1: 66,841,624 Q328* probably null Het
Alpk2 T C 18: 65,350,682 Y85C probably damaging Het
Arhgap31 C T 16: 38,601,765 R1313Q probably damaging Het
Chrnb1 G T 11: 69,795,729 R22S probably benign Het
Clec7a G A 6: 129,465,576 probably benign Het
Epb41l5 A G 1: 119,579,084 probably benign Het
Fam49b A G 15: 63,937,387 S251P probably benign Het
Gm10093 T A 17: 78,492,853 D424E probably benign Het
Hydin A C 8: 110,514,895 I2106L probably benign Het
Igkv3-5 T A 6: 70,663,686 D50E probably benign Het
Irf2bp1 G T 7: 19,005,295 A287S possibly damaging Het
Ldb3 G A 14: 34,577,199 S156L probably benign Het
Lnpep A T 17: 17,531,178 W942R probably damaging Het
Mst1r T A 9: 107,917,276 V1218D probably damaging Het
Naxd G T 8: 11,510,218 probably benign Het
Nol9 T C 4: 152,046,037 probably null Het
Nus1 T A 10: 52,436,657 L295Q probably damaging Het
Nxph2 A G 2: 23,399,934 I99M probably benign Het
Plekhg1 T A 10: 3,945,904 I432N probably damaging Het
Pram1 C A 17: 33,640,861 A134D probably damaging Het
Serpinb6c T A 13: 33,897,334 probably benign Het
Stk10 A T 11: 32,589,460 E280V probably benign Het
Tbc1d10c T A 19: 4,190,709 Q34L possibly damaging Het
Tnr G A 1: 159,863,779 V500I probably benign Het
Trim66 G A 7: 109,458,251 R992* probably null Het
Unc45b A G 11: 82,936,861 D728G probably benign Het
Usp13 A G 3: 32,917,459 D696G probably damaging Het
Utrn C T 10: 12,669,781 V1707I probably benign Het
Vmn2r96 A T 17: 18,597,265 H368L probably damaging Het
Xrn1 T C 9: 95,973,368 probably null Het
Zfhx3 C A 8: 108,947,234 L1639M probably damaging Het
Znfx1 A T 2: 167,056,350 V218E probably damaging Het
Other mutations in Pon3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01977:Pon3 APN 6 5221670 missense probably damaging 1.00
IGL02601:Pon3 APN 6 5221671 missense probably damaging 1.00
IGL02661:Pon3 APN 6 5256205 missense probably benign 0.05
IGL03168:Pon3 APN 6 5256177 missense possibly damaging 0.54
IGL02988:Pon3 UTSW 6 5232330 missense possibly damaging 0.91
R0242:Pon3 UTSW 6 5240860 missense probably benign 0.25
R0242:Pon3 UTSW 6 5240860 missense probably benign 0.25
R0566:Pon3 UTSW 6 5232408 missense possibly damaging 0.89
R0730:Pon3 UTSW 6 5230444 missense probably benign 0.18
R1378:Pon3 UTSW 6 5230813 missense probably benign 0.08
R1955:Pon3 UTSW 6 5230774 missense probably benign 0.02
R2697:Pon3 UTSW 6 5232429 missense possibly damaging 0.67
R2975:Pon3 UTSW 6 5232345 missense probably damaging 1.00
R3794:Pon3 UTSW 6 5221578 missense probably benign 0.22
R4940:Pon3 UTSW 6 5221625 missense possibly damaging 0.75
R4988:Pon3 UTSW 6 5254582 nonsense probably null
R4990:Pon3 UTSW 6 5221619 missense probably benign
R5266:Pon3 UTSW 6 5240860 missense possibly damaging 0.66
R5473:Pon3 UTSW 6 5256177 missense possibly damaging 0.54
R6152:Pon3 UTSW 6 5221716 missense probably damaging 1.00
R6746:Pon3 UTSW 6 5230786 missense possibly damaging 0.54
Posted On2014-05-07