Incidental Mutation 'R1593:Pon2'
ID 175606
Institutional Source Beutler Lab
Gene Symbol Pon2
Ensembl Gene ENSMUSG00000032667
Gene Name paraoxonase 2
Synonyms 6330405I24Rik
MMRRC Submission 039630-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1593 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 5264620-5298408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5273003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 122 (D122G)
Ref Sequence ENSEMBL: ENSMUSP00000062670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057792]
AlphaFold Q62086
Predicted Effect probably benign
Transcript: ENSMUST00000057792
AA Change: D122G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062670
Gene: ENSMUSG00000032667
AA Change: D122G

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
Pfam:SGL 107 303 1e-12 PFAM
Pfam:Arylesterase 167 252 3.9e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203882
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: When fed an atherogenic diet, mice homozygous for a gene trapped allele show markedly lower VLDL/LDL cholesterol and serum apoB levels, higher cellular oxidative stress, enhanced macrophage immunoreactivity and LDL-induced monocyte chemotaxis, and largeratheromatous lesions than wild-type mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A T 11: 100,372,581 (GRCm39) I902N possibly damaging Het
Acsl6 A G 11: 54,214,134 (GRCm39) D88G probably damaging Het
Adam1a A C 5: 121,657,706 (GRCm39) I529S probably benign Het
Ap3b1 T C 13: 94,638,435 (GRCm39) V838A unknown Het
Arrdc2 T C 8: 71,289,764 (GRCm39) Y280C probably damaging Het
Atg10 T C 13: 91,302,380 (GRCm39) T53A probably benign Het
Ccdc136 T C 6: 29,415,583 (GRCm39) S699P probably damaging Het
Cdc23 C A 18: 34,769,379 (GRCm39) V462L possibly damaging Het
Clcn6 C T 4: 148,099,051 (GRCm39) A431T probably benign Het
Cntn6 T G 6: 104,809,541 (GRCm39) H525Q possibly damaging Het
Ctr9 T C 7: 110,642,060 (GRCm39) F296S possibly damaging Het
Ctsq T A 13: 61,183,986 (GRCm39) probably null Het
Ehd1 A G 19: 6,348,330 (GRCm39) D436G Het
Epha6 A T 16: 60,245,267 (GRCm39) F311I probably damaging Het
Esrrg A T 1: 187,798,582 (GRCm39) T150S possibly damaging Het
Exoc2 C A 13: 31,040,744 (GRCm39) R758L possibly damaging Het
Exosc7 G C 9: 122,961,058 (GRCm39) V242L probably benign Het
Fcho2 T C 13: 98,921,315 (GRCm39) D190G possibly damaging Het
Fgd6 T C 10: 93,880,894 (GRCm39) S583P probably damaging Het
Frmd4a A G 2: 4,477,999 (GRCm39) Y60C probably damaging Het
Gldc A T 19: 30,091,150 (GRCm39) I815N probably damaging Het
Grm2 A T 9: 106,528,113 (GRCm39) L257Q probably damaging Het
Hectd3 C A 4: 116,854,217 (GRCm39) T289K possibly damaging Het
Itgb4 T C 11: 115,871,817 (GRCm39) V207A probably damaging Het
Lamb3 A G 1: 193,013,104 (GRCm39) E443G probably damaging Het
Meis2 T A 2: 115,830,745 (GRCm39) D256V probably damaging Het
Muc4 A G 16: 32,754,686 (GRCm38) N1520S probably benign Het
Nckap1l A G 15: 103,387,281 (GRCm39) R719G probably null Het
Or6c210 A T 10: 129,496,094 (GRCm39) R140* probably null Het
Pabpc6 A T 17: 9,886,742 (GRCm39) M603K probably damaging Het
Pcnx2 C A 8: 126,486,012 (GRCm39) R1862L probably benign Het
Pgap6 T A 17: 26,337,381 (GRCm39) I399N possibly damaging Het
Ppig T A 2: 69,579,425 (GRCm39) W378R unknown Het
Ralgapa1 T A 12: 55,817,488 (GRCm39) E389D probably damaging Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rarg A G 15: 102,148,376 (GRCm39) F233L probably damaging Het
Rasgrp2 T C 19: 6,453,490 (GRCm39) F90L possibly damaging Het
Rrp12 T A 19: 41,851,680 (GRCm39) H1285L probably benign Het
Slc16a13 C A 11: 70,109,908 (GRCm39) A198S probably benign Het
Spag9 A G 11: 93,988,059 (GRCm39) D441G probably damaging Het
Stxbp5l A G 16: 36,936,414 (GRCm39) F1099S probably damaging Het
Tex19.1 T A 11: 121,038,079 (GRCm39) W146R probably damaging Het
Tmod3 T C 9: 75,418,445 (GRCm39) D197G probably benign Het
Tpp2 A G 1: 44,014,593 (GRCm39) H644R probably benign Het
Trpm2 A G 10: 77,778,910 (GRCm39) V352A possibly damaging Het
Tulp1 T C 17: 28,581,675 (GRCm39) K233E probably damaging Het
Vsir A G 10: 60,193,737 (GRCm39) T67A possibly damaging Het
Wdr49 T C 3: 75,304,248 (GRCm39) N487S probably benign Het
Zbtb20 A G 16: 43,429,786 (GRCm39) N99S probably damaging Het
Zfp583 C T 7: 6,320,008 (GRCm39) G335S probably benign Het
Zgrf1 T A 3: 127,354,675 (GRCm39) V98E possibly damaging Het
Other mutations in Pon2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01598:Pon2 APN 6 5,272,331 (GRCm39) missense probably damaging 1.00
IGL02683:Pon2 APN 6 5,269,062 (GRCm39) missense probably damaging 1.00
IGL03240:Pon2 APN 6 5,265,316 (GRCm39) utr 3 prime probably benign
R0102:Pon2 UTSW 6 5,289,091 (GRCm39) splice site probably benign
R0102:Pon2 UTSW 6 5,289,091 (GRCm39) splice site probably benign
R0360:Pon2 UTSW 6 5,266,156 (GRCm39) nonsense probably null
R0364:Pon2 UTSW 6 5,266,156 (GRCm39) nonsense probably null
R0402:Pon2 UTSW 6 5,272,410 (GRCm39) nonsense probably null
R0494:Pon2 UTSW 6 5,267,059 (GRCm39) splice site probably benign
R3001:Pon2 UTSW 6 5,268,976 (GRCm39) critical splice donor site probably null
R3002:Pon2 UTSW 6 5,268,976 (GRCm39) critical splice donor site probably null
R3236:Pon2 UTSW 6 5,266,986 (GRCm39) missense possibly damaging 0.59
R4467:Pon2 UTSW 6 5,267,021 (GRCm39) missense probably benign 0.24
R4911:Pon2 UTSW 6 5,269,029 (GRCm39) missense possibly damaging 0.93
R5237:Pon2 UTSW 6 5,265,455 (GRCm39) missense probably benign
R6025:Pon2 UTSW 6 5,289,057 (GRCm39) missense probably benign 0.40
R6313:Pon2 UTSW 6 5,272,421 (GRCm39) missense probably damaging 1.00
R6737:Pon2 UTSW 6 5,266,183 (GRCm39) missense probably benign 0.04
R7427:Pon2 UTSW 6 5,268,995 (GRCm39) missense probably damaging 0.99
R7438:Pon2 UTSW 6 5,289,080 (GRCm39) missense probably benign
R7517:Pon2 UTSW 6 5,268,997 (GRCm39) missense possibly damaging 0.91
R8142:Pon2 UTSW 6 5,266,239 (GRCm39) missense probably benign 0.01
R8318:Pon2 UTSW 6 5,265,425 (GRCm39) missense probably benign
R8863:Pon2 UTSW 6 5,265,480 (GRCm39) critical splice acceptor site probably null
R9154:Pon2 UTSW 6 5,265,391 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- ACTGGCTCCCTGACCTGTAAGATG -3'
(R):5'- TGGCTCCACGCCACTAACTTTAAC -3'

Sequencing Primer
(F):5'- CCCTCAGCTTAGGAGACATATGAATG -3'
(R):5'- GCCACTTCTAAGTCATGTAGAGTAG -3'
Posted On 2014-04-24