Incidental Mutation 'IGL01977:Pon3'
ID181728
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 #IGL01977
Quality Score
Status
Chromosome6
Chromosomal Location5220852-5256286 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5221670 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 320 (Y320C)
Ref Sequence ENSEMBL: ENSMUSP00000031773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031773] [ENSMUST00000129344]
Predicted Effect probably damaging
Transcript: ENSMUST00000031773
AA Change: Y320C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031773
Gene: ENSMUSG00000029759
AA Change: Y320C

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: ENSMUST00000129344
SMART Domains Protein: ENSMUSP00000118137
Gene: ENSMUSG00000029759

DomainStartEndE-ValueType
PDB:4HHQ|A 1 67 3e-17 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203092
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 80,006,152 S1040T probably benign Het
Adam25 T C 8: 40,755,097 Y467H probably benign Het
Ank1 A G 8: 23,115,433 I1061V probably benign Het
Anxa10 T C 8: 62,076,314 E123G probably damaging Het
Arhgap35 G A 7: 16,563,203 L646F probably damaging Het
Atp8b5 A G 4: 43,320,590 probably null Het
Brap A G 5: 121,678,847 probably benign Het
Carmil3 A G 14: 55,493,536 T87A probably damaging Het
Ccdc172 A G 19: 58,552,877 D256G possibly damaging Het
Cep350 C T 1: 155,911,968 A1375T probably benign Het
Chrdl2 A T 7: 100,022,056 Q127L probably benign Het
Cyp2c29 T C 19: 39,290,897 probably benign Het
Ddi1 C A 9: 6,266,226 V48F probably benign Het
Ddrgk1 C T 2: 130,655,246 probably benign Het
Fastkd1 C T 2: 69,694,588 V626I possibly damaging Het
Fgd5 A G 6: 92,024,562 T755A probably benign Het
Fpgt G T 3: 155,088,018 T124K probably damaging Het
Gnl2 G A 4: 125,047,612 probably null Het
Got1 A T 19: 43,515,845 S46T probably benign Het
Hbb-bt G T 7: 103,813,863 H3N probably benign Het
Ikbke C T 1: 131,272,101 probably benign Het
Il2rb A G 15: 78,481,697 S467P probably benign Het
Kcnma1 A G 14: 23,530,299 probably benign Het
Ltbp2 T C 12: 84,830,199 N391D probably damaging Het
Npr3 A T 15: 11,858,718 I360N probably damaging Het
Nradd G A 9: 110,622,169 P44S possibly damaging Het
Olfr1023 G T 2: 85,887,367 C189F probably damaging Het
Olfr871 G A 9: 20,212,459 V37I possibly damaging Het
Pcdh17 A G 14: 84,533,097 E1005G possibly damaging Het
Pcdhb11 A G 18: 37,422,291 T225A possibly damaging Het
Pja2 T C 17: 64,297,826 D454G probably benign Het
Prl2a1 A G 13: 27,806,278 D70G probably damaging Het
Proc T A 18: 32,127,419 T218S probably benign Het
Proz G T 8: 13,066,913 G155V probably damaging Het
Rab11fip3 T C 17: 26,068,003 E392G possibly damaging Het
Rab3gap2 C T 1: 185,267,023 R976* probably null Het
Shisa2 G A 14: 59,629,986 C229Y probably damaging Het
Slc2a5 T C 4: 150,142,218 V379A probably damaging Het
Slc31a2 A T 4: 62,295,960 K47N probably damaging Het
Sult2a6 G A 7: 14,253,486 T88I probably benign Het
Tbc1d14 T C 5: 36,505,037 Y302C probably damaging Het
Thumpd3 C A 6: 113,059,966 N275K possibly damaging Het
Tnks2 T C 19: 36,872,590 probably null Het
Tube1 G A 10: 39,135,045 probably benign Het
Umodl1 T A 17: 30,973,768 Y290N probably damaging Het
Usp34 G A 11: 23,452,661 E726K probably damaging Het
Vmn2r84 T A 10: 130,394,066 D59V probably benign Het
Vps11 T A 9: 44,356,219 probably benign Het
Wdr19 T C 5: 65,228,569 Y631H probably benign Het
Wdr62 G A 7: 30,258,101 H88Y probably damaging Het
Wdr93 A T 7: 79,752,505 N184I probably damaging Het
Wnk4 T A 11: 101,265,414 F473Y probably damaging Het
Zbtb16 A G 9: 48,657,183 W661R probably damaging Het
Other mutations in Pon3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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