Incidental Mutation 'IGL03168:Pon3'
ID 411733
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 # IGL03168
Quality Score
Status
Chromosome 6
Chromosomal Location 5220852-5256286 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5256177 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q62087
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: 4,486,280 (GRCm39) V29A probably benign Het
Ankk1 C A 9: 49,327,068 (GRCm39) A704S possibly damaging Het
Aph1c G A 9: 66,740,619 (GRCm39) probably benign Het
Arglu1 T A 8: 8,733,960 (GRCm39) I119L probably benign Het
Brwd1 A T 16: 95,818,877 (GRCm39) S1318R possibly damaging Het
Calhm4 C T 10: 33,917,552 (GRCm39) V300I probably benign Het
Chd3 A G 11: 69,239,741 (GRCm39) probably benign Het
Colq T C 14: 31,246,377 (GRCm39) Y445C probably damaging Het
Cyp2a4 A T 7: 26,012,975 (GRCm39) probably benign Het
Cyp2j7 C T 4: 96,118,274 (GRCm39) M106I probably benign Het
Erfe T G 1: 91,299,164 (GRCm39) N302K probably damaging Het
Fggy A T 4: 95,815,046 (GRCm39) probably benign Het
Gata3 A G 2: 9,873,625 (GRCm39) Y290H probably damaging Het
Grik4 T C 9: 42,582,539 (GRCm39) T136A probably damaging Het
Hc G T 2: 34,914,210 (GRCm39) N832K probably benign Het
Jhy A T 9: 40,828,848 (GRCm39) S353T possibly damaging Het
Krt40 T A 11: 99,433,854 (GRCm39) Q44L possibly damaging Het
Ksr2 T C 5: 117,886,846 (GRCm39) F794S probably damaging Het
Or2l13 A T 16: 19,305,969 (GRCm39) H127L probably benign Het
Or2n1e A C 17: 38,585,682 (GRCm39) S7R probably damaging Het
Or4p7 A G 2: 88,221,938 (GRCm39) M116V probably damaging Het
Or5ac16 A G 16: 59,022,610 (GRCm39) Y60H probably damaging Het
Or5t9 A G 2: 86,659,607 (GRCm39) I170M possibly damaging Het
Or8b1c A G 9: 38,384,315 (GRCm39) T91A probably benign Het
Pcdhb17 A G 18: 37,618,825 (GRCm39) E205G probably benign Het
Prkd2 A G 7: 16,584,188 (GRCm39) D347G possibly damaging Het
Prkdc A G 16: 15,652,030 (GRCm39) I3806V probably benign Het
Qpct C A 17: 79,359,753 (GRCm39) A20E unknown Het
Rap1a A G 3: 105,657,587 (GRCm39) S11P probably damaging Het
Rnf145 C A 11: 44,445,985 (GRCm39) T273K probably damaging Het
Speg T C 1: 75,364,831 (GRCm39) I298T probably damaging Het
Syt6 G A 3: 103,494,943 (GRCm39) V303M probably damaging Het
Tpr A G 1: 150,284,508 (GRCm39) I324M probably benign Het
Uggt2 A G 14: 119,315,080 (GRCm39) F330L probably damaging Het
Unc45a A T 7: 79,982,881 (GRCm39) L348Q probably damaging Het
Vmn1r17 T A 6: 57,337,583 (GRCm39) I212F probably benign Het
Vmn2r68 A C 7: 84,870,972 (GRCm39) N770K probably damaging Het
Zfhx3 T C 8: 109,673,132 (GRCm39) V1394A probably damaging Het
Other mutations in Pon3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01977:Pon3 APN 6 5,221,670 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02