Incidental Mutation 'IGL01977:Pon3'
ID 181728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pon3
Ensembl Gene ENSMUSG00000029759
Gene Name paraoxonase 3
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01977
Quality Score
Status
Chromosome 6
Chromosomal Location 5220852-5256286 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5221670 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q62087
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: 79,841,986 (GRCm39) S1040T probably benign Het
Adam25 T C 8: 41,208,134 (GRCm39) Y467H probably benign Het
Ank1 A G 8: 23,605,449 (GRCm39) I1061V probably benign Het
Anxa10 T C 8: 62,529,348 (GRCm39) E123G probably damaging Het
Arhgap35 G A 7: 16,297,128 (GRCm39) L646F probably damaging Het
Atp8b5 A G 4: 43,320,590 (GRCm39) probably null Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Carmil3 A G 14: 55,730,993 (GRCm39) T87A probably damaging Het
Ccdc172 A G 19: 58,541,309 (GRCm39) D256G possibly damaging Het
Cep350 C T 1: 155,787,714 (GRCm39) A1375T probably benign Het
Chrdl2 A T 7: 99,671,263 (GRCm39) Q127L probably benign Het
Cyp2c29 T C 19: 39,279,341 (GRCm39) probably benign Het
Ddi1 C A 9: 6,266,226 (GRCm39) V48F probably benign Het
Ddrgk1 C T 2: 130,497,166 (GRCm39) probably benign Het
Fastkd1 C T 2: 69,524,932 (GRCm39) V626I possibly damaging Het
Fgd5 A G 6: 92,001,543 (GRCm39) T755A probably benign Het
Fpgt G T 3: 154,793,655 (GRCm39) T124K probably damaging Het
Gnl2 G A 4: 124,941,405 (GRCm39) probably null Het
Got1 A T 19: 43,504,284 (GRCm39) S46T probably benign Het
Hbb-bt G T 7: 103,463,070 (GRCm39) H3N probably benign Het
Ikbke C T 1: 131,199,838 (GRCm39) probably benign Het
Il2rb A G 15: 78,365,897 (GRCm39) S467P probably benign Het
Kcnma1 A G 14: 23,580,367 (GRCm39) probably benign Het
Ltbp2 T C 12: 84,876,973 (GRCm39) N391D probably damaging Het
Npr3 A T 15: 11,858,804 (GRCm39) I360N probably damaging Het
Nradd G A 9: 110,451,237 (GRCm39) P44S possibly damaging Het
Or5m10 G T 2: 85,717,711 (GRCm39) C189F probably damaging Het
Or7h8 G A 9: 20,123,755 (GRCm39) V37I possibly damaging Het
Pcdh17 A G 14: 84,770,537 (GRCm39) E1005G possibly damaging Het
Pcdhb11 A G 18: 37,555,344 (GRCm39) T225A possibly damaging Het
Pja2 T C 17: 64,604,821 (GRCm39) D454G probably benign Het
Prl2a1 A G 13: 27,990,261 (GRCm39) D70G probably damaging Het
Proc T A 18: 32,260,472 (GRCm39) T218S probably benign Het
Proz G T 8: 13,116,913 (GRCm39) G155V probably damaging Het
Rab11fip3 T C 17: 26,286,977 (GRCm39) E392G possibly damaging Het
Rab3gap2 C T 1: 184,999,220 (GRCm39) R976* probably null Het
Shisa2 G A 14: 59,867,435 (GRCm39) C229Y probably damaging Het
Slc2a5 T C 4: 150,226,675 (GRCm39) V379A probably damaging Het
Slc31a2 A T 4: 62,214,197 (GRCm39) K47N probably damaging Het
Sult2a6 G A 7: 13,987,411 (GRCm39) T88I probably benign Het
Tbc1d14 T C 5: 36,662,381 (GRCm39) Y302C probably damaging Het
Thumpd3 C A 6: 113,036,927 (GRCm39) N275K possibly damaging Het
Tnks2 T C 19: 36,849,990 (GRCm39) probably null Het
Tube1 G A 10: 39,011,041 (GRCm39) probably benign Het
Umodl1 T A 17: 31,192,742 (GRCm39) Y290N probably damaging Het
Usp34 G A 11: 23,402,661 (GRCm39) E726K probably damaging Het
Vmn2r84 T A 10: 130,229,935 (GRCm39) D59V probably benign Het
Vps11 T A 9: 44,267,516 (GRCm39) probably benign Het
Wdr19 T C 5: 65,385,912 (GRCm39) Y631H probably benign Het
Wdr62 G A 7: 29,957,526 (GRCm39) H88Y probably damaging Het
Wdr93 A T 7: 79,402,253 (GRCm39) N184I probably damaging Het
Wnk4 T A 11: 101,156,240 (GRCm39) F473Y probably damaging Het
Zbtb16 A G 9: 48,568,483 (GRCm39) W661R probably damaging Het
Other mutations in Pon3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01983:Pon3 APN 6 5,240,974 (GRCm39) missense probably damaging 1.00
IGL02601:Pon3 APN 6 5,221,671 (GRCm39) missense probably damaging 1.00
IGL02661:Pon3 APN 6 5,256,205 (GRCm39) missense probably benign 0.05
IGL03168:Pon3 APN 6 5,256,177 (GRCm39) missense possibly damaging 0.54
IGL02988:Pon3 UTSW 6 5,232,330 (GRCm39) missense possibly damaging 0.91
R0242:Pon3 UTSW 6 5,240,860 (GRCm39) missense probably benign 0.25
R0242:Pon3 UTSW 6 5,240,860 (GRCm39) missense probably benign 0.25
R0566:Pon3 UTSW 6 5,232,408 (GRCm39) missense possibly damaging 0.89
R0730:Pon3 UTSW 6 5,230,444 (GRCm39) missense probably benign 0.18
R1378:Pon3 UTSW 6 5,230,813 (GRCm39) missense probably benign 0.08
R1955:Pon3 UTSW 6 5,230,774 (GRCm39) missense probably benign 0.02
R2697:Pon3 UTSW 6 5,232,429 (GRCm39) missense possibly damaging 0.67
R2975:Pon3 UTSW 6 5,232,345 (GRCm39) missense probably damaging 1.00
R3794:Pon3 UTSW 6 5,221,578 (GRCm39) missense probably benign 0.22
R4940:Pon3 UTSW 6 5,221,625 (GRCm39) missense possibly damaging 0.75
R4988:Pon3 UTSW 6 5,254,582 (GRCm39) nonsense probably null
R4990:Pon3 UTSW 6 5,221,619 (GRCm39) missense probably benign
R5266:Pon3 UTSW 6 5,240,860 (GRCm39) missense possibly damaging 0.66
R5473:Pon3 UTSW 6 5,256,177 (GRCm39) missense possibly damaging 0.54
R6152:Pon3 UTSW 6 5,221,716 (GRCm39) missense probably damaging 1.00
R6746:Pon3 UTSW 6 5,230,786 (GRCm39) missense possibly damaging 0.54
R7140:Pon3 UTSW 6 5,221,664 (GRCm39) missense possibly damaging 0.92
R7450:Pon3 UTSW 6 5,236,940 (GRCm39) missense possibly damaging 0.80
R7853:Pon3 UTSW 6 5,236,911 (GRCm39) missense probably damaging 1.00
R8481:Pon3 UTSW 6 5,221,715 (GRCm39) missense probably benign 0.23
R9200:Pon3 UTSW 6 5,240,863 (GRCm39) missense probably benign 0.42
R9344:Pon3 UTSW 6 5,221,586 (GRCm39) missense probably benign 0.03
R9736:Pon3 UTSW 6 5,232,339 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07