Incidental Mutation 'IGL03168:Pon3'
ID411733
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 #IGL03168
Quality Score
Status
Chromosome6
Chromosomal Location5220852-5256286 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 5256177 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 17 (I17K)
Ref Sequence ENSEMBL: ENSMUSP00000118137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031773] [ENSMUST00000125686] [ENSMUST00000129344]
Predicted Effect probably benign
Transcript: ENSMUST00000031773
AA Change: I17K

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000031773
Gene: ENSMUSG00000029759
AA Change: I17K

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 possibly damaging
Transcript: ENSMUST00000129344
AA Change: I17K

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118137
Gene: ENSMUSG00000029759
AA Change: I17K

DomainStartEndE-ValueType
PDB:4HHQ|A 1 67 3e-17 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176948
SMART Domains Protein: ENSMUSP00000135554
Gene: ENSMUSG00000029759

DomainStartEndE-ValueType
PDB:3SRG|A 3 90 1e-33 PDB
Meta Mutation Damage Score 0.1795 question?
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,436,281 V29A probably benign Het
Ankk1 C A 9: 49,415,768 A704S possibly damaging Het
Aph1c G A 9: 66,833,337 probably benign Het
Arglu1 T A 8: 8,683,960 I119L probably benign Het
Brwd1 A T 16: 96,017,677 S1318R possibly damaging Het
Chd3 A G 11: 69,348,915 probably benign Het
Colq T C 14: 31,524,420 Y445C probably damaging Het
Cyp2a4 A T 7: 26,313,550 probably benign Het
Cyp2j7 C T 4: 96,230,037 M106I probably benign Het
Erfe T G 1: 91,371,442 N302K probably damaging Het
Fam26d C T 10: 34,041,556 V300I probably benign Het
Fggy A T 4: 95,926,809 probably benign Het
Gata3 A G 2: 9,868,814 Y290H probably damaging Het
Grik4 T C 9: 42,671,243 T136A probably damaging Het
Hc G T 2: 35,024,198 N832K probably benign Het
Jhy A T 9: 40,917,552 S353T possibly damaging Het
Krt40 T A 11: 99,543,028 Q44L possibly damaging Het
Ksr2 T C 5: 117,748,781 F794S probably damaging Het
Olfr1094 A G 2: 86,829,263 I170M possibly damaging Het
Olfr1178 A G 2: 88,391,594 M116V probably damaging Het
Olfr138 A C 17: 38,274,791 S7R probably damaging Het
Olfr166 A T 16: 19,487,219 H127L probably benign Het
Olfr198 A G 16: 59,202,247 Y60H probably damaging Het
Olfr905 A G 9: 38,473,019 T91A probably benign Het
Pcdhb17 A G 18: 37,485,772 E205G probably benign Het
Prkd2 A G 7: 16,850,263 D347G possibly damaging Het
Prkdc A G 16: 15,834,166 I3806V probably benign Het
Qpct C A 17: 79,052,324 A20E unknown Het
Rap1a A G 3: 105,750,271 S11P probably damaging Het
Rnf145 C A 11: 44,555,158 T273K probably damaging Het
Speg T C 1: 75,388,187 I298T probably damaging Het
Syt6 G A 3: 103,587,627 V303M probably damaging Het
Tpr A G 1: 150,408,757 I324M probably benign Het
Uggt2 A G 14: 119,077,668 F330L probably damaging Het
Unc45a A T 7: 80,333,133 L348Q probably damaging Het
Vmn1r17 T A 6: 57,360,598 I212F probably benign Het
Vmn2r68 A C 7: 85,221,764 N770K probably damaging Het
Zfhx3 T C 8: 108,946,500 V1394A probably damaging Het
Other mutations in Pon3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01977:Pon3 APN 6 5221670 missense probably damaging 1.00
IGL01983:Pon3 APN 6 5240974 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
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
R7140:Pon3 UTSW 6 5221664 missense possibly damaging 0.92
R7450:Pon3 UTSW 6 5236940 missense possibly damaging 0.80
R7853:Pon3 UTSW 6 5236911 missense probably damaging 1.00
Posted On2016-08-02