Incidental Mutation 'R6025:Pon2'
ID 479965
Institutional Source Beutler Lab
Gene Symbol Pon2
Ensembl Gene ENSMUSG00000032667
Gene Name paraoxonase 2
Synonyms 6330405I24Rik
MMRRC Submission 044197-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6025 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 5264620-5298408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5289057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 34 (V34A)
Ref Sequence ENSEMBL: ENSMUSP00000062670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057792]
AlphaFold Q62086
Predicted Effect probably benign
Transcript: ENSMUST00000057792
AA Change: V34A

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000062670
Gene: ENSMUSG00000032667
AA Change: V34A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 92.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik GC G 11: 59,101,139 (GRCm39) probably null Het
Acvr1b C A 15: 101,092,856 (GRCm39) D166E probably benign Het
Adgra2 T C 8: 27,604,491 (GRCm39) I522T probably damaging Het
Adgre4 C T 17: 56,099,013 (GRCm39) S173L probably benign Het
Akap9 A T 5: 4,082,801 (GRCm39) Q1975L probably damaging Het
Ap3d1 T A 10: 80,546,298 (GRCm39) M965L probably benign Het
Brca2 CATA CA 5: 150,465,040 (GRCm39) probably null Het
Chd6 T C 2: 160,807,502 (GRCm39) N1904S probably benign Het
Clstn3 A T 6: 124,408,623 (GRCm39) S896R possibly damaging Het
Col6a3 T A 1: 90,755,824 (GRCm39) D155V probably damaging Het
Dct T C 14: 118,273,876 (GRCm39) T344A possibly damaging Het
Dctn1 T A 6: 83,170,673 (GRCm39) probably null Het
Dgkz T C 2: 91,776,255 (GRCm39) T3A possibly damaging Het
Duoxa2 T C 2: 122,132,332 (GRCm39) S249P possibly damaging Het
Ehbp1 A T 11: 22,189,156 (GRCm39) V82E probably damaging Het
Fcho1 A T 8: 72,165,217 (GRCm39) probably null Het
Garin5b T A 7: 4,761,143 (GRCm39) D523V probably benign Het
Ifi213 T A 1: 173,422,800 (GRCm39) N22Y probably damaging Het
Kcnq1 T A 7: 142,660,170 (GRCm39) probably benign Het
Kif7 T A 7: 79,354,388 (GRCm39) Q799L probably benign Het
Lmnb1 T A 18: 56,862,456 (GRCm39) L206* probably null Het
Lonp2 G T 8: 87,440,001 (GRCm39) G247V probably damaging Het
Ly75 T C 2: 60,206,306 (GRCm39) Y121C probably damaging Het
Mboat1 C A 13: 30,408,509 (GRCm39) T224K probably benign Het
Mcm9 T C 10: 53,492,073 (GRCm39) E416G possibly damaging Het
Mtnr1b A T 9: 15,774,093 (GRCm39) I322N probably damaging Het
Nanog G A 6: 122,690,350 (GRCm39) G227R possibly damaging Het
Nbn T C 4: 15,981,347 (GRCm39) S480P probably damaging Het
Nek10 C A 14: 14,865,633 (GRCm38) L638M probably benign Het
Nelfcd T C 2: 174,268,611 (GRCm39) V538A probably damaging Het
Or1e33 A T 11: 73,738,745 (GRCm39) S69T probably benign Het
Or2b4 T G 17: 38,116,312 (GRCm39) I92S probably damaging Het
Or52a5b T C 7: 103,417,416 (GRCm39) I63V probably benign Het
Or5b97 T A 19: 12,879,034 (GRCm39) T37S probably benign Het
Phf24 G A 4: 42,938,780 (GRCm39) probably null Het
Pigz T C 16: 31,764,528 (GRCm39) S529P probably damaging Het
Pik3r5 A G 11: 68,383,144 (GRCm39) E321G probably damaging Het
Plcb3 G A 19: 6,933,547 (GRCm39) T926I probably benign Het
Pm20d2 G A 4: 33,181,833 (GRCm39) P257S probably damaging Het
Prkar2b A G 12: 32,110,855 (GRCm39) F76S possibly damaging Het
Prpf31 G A 7: 3,642,668 (GRCm39) E414K probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Setbp1 A T 18: 78,902,455 (GRCm39) L404Q probably damaging Het
Slc26a11 C T 11: 119,265,654 (GRCm39) A389V probably damaging Het
Slc2a1 A T 4: 118,993,539 (GRCm39) T459S possibly damaging Het
Spi1 T C 2: 90,944,685 (GRCm39) L135P probably benign Het
Sspo T C 6: 48,463,720 (GRCm39) L3844P possibly damaging Het
Stxbp5 T A 10: 9,675,772 (GRCm39) T616S probably benign Het
Syde2 A G 3: 145,712,896 (GRCm39) probably null Het
Synm G T 7: 67,384,686 (GRCm39) A550D possibly damaging Het
Tanc2 T C 11: 105,787,373 (GRCm39) V891A possibly damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tlx1 A T 19: 45,144,413 (GRCm39) Q45L probably damaging Het
Tmem104 C A 11: 115,096,349 (GRCm39) Y191* probably null Het
Tmem17 A C 11: 22,468,659 (GRCm39) *199C probably null Het
Tns3 A T 11: 8,442,578 (GRCm39) M595K possibly damaging Het
Tyk2 A G 9: 21,027,256 (GRCm39) V538A probably benign Het
Unc80 A G 1: 66,734,727 (GRCm39) D3250G possibly damaging Het
Usp4 A G 9: 108,237,322 (GRCm39) H130R possibly damaging Het
Zfhx2 T C 14: 55,302,665 (GRCm39) Q1773R probably benign Het
Zfp790 A G 7: 29,528,970 (GRCm39) K552E possibly damaging Het
Zswim5 G A 4: 116,808,106 (GRCm39) R230Q probably 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
R1593:Pon2 UTSW 6 5,273,003 (GRCm39) missense 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
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'- GCCGGGACCATGTAAAGTTTC -3'
(R):5'- TTCTCTAGGTCTGGAAGGCAG -3'

Sequencing Primer
(F):5'- TATACAAACACAACTCAGAGGTTCC -3'
(R):5'- TCTAGGTCTGGAAGGCAGAGACTG -3'
Posted On 2017-06-26