Incidental Mutation 'R1955:Pon3'
ID 217665
Institutional Source Beutler Lab
Gene Symbol Pon3
Ensembl Gene ENSMUSG00000029759
Gene Name paraoxonase 3
Synonyms
MMRRC Submission 039969-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1955 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 5220852-5256286 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5230774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 251 (D251V)
Ref Sequence ENSEMBL: ENSMUSP00000031773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031773] [ENSMUST00000125686] [ENSMUST00000129344]
AlphaFold Q62087
Predicted Effect probably benign
Transcript: ENSMUST00000031773
AA Change: D251V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000031773
Gene: ENSMUSG00000029759
AA Change: D251V

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 probably benign
Transcript: ENSMUST00000129344
SMART Domains Protein: ENSMUSP00000118137
Gene: ENSMUSG00000029759

DomainStartEndE-ValueType
PDB:4HHQ|A 1 67 3e-17 PDB
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T A 1: 53,202,400 (GRCm39) K128N probably benign Het
Acadm A C 3: 153,635,188 (GRCm39) F309V probably damaging Het
Adam6b C A 12: 113,455,436 (GRCm39) A751E probably benign Het
Adcy9 A G 16: 4,236,523 (GRCm39) I296T possibly damaging Het
Arhgap45 A G 10: 79,862,326 (GRCm39) E471G probably benign Het
Atcay T C 10: 81,050,627 (GRCm39) D96G possibly damaging Het
B3galt4 T A 17: 34,169,606 (GRCm39) R211* probably null Het
Bpi T C 2: 158,116,635 (GRCm39) I344T probably damaging Het
Btnl4 T C 17: 34,691,904 (GRCm39) K233E possibly damaging Het
Cars2 A T 8: 11,600,286 (GRCm39) Y68N probably damaging Het
Cd207 T A 6: 83,648,757 (GRCm39) R302W probably benign Het
Cdc5l T C 17: 45,737,442 (GRCm39) probably null Het
Chaf1a C T 17: 56,354,540 (GRCm39) T270I unknown Het
Col4a1 C T 8: 11,258,228 (GRCm39) probably null Het
Col7a1 G T 9: 108,784,732 (GRCm39) V187L unknown Het
Cry1 G A 10: 84,980,042 (GRCm39) T422I probably benign Het
Csgalnact1 C T 8: 68,825,319 (GRCm39) V392I probably benign Het
Cyp2c38 A G 19: 39,393,131 (GRCm39) L312P probably damaging Het
Ddx20 G A 3: 105,586,878 (GRCm39) T489M possibly damaging Het
Decr1 A T 4: 15,924,256 (GRCm39) N221K probably benign Het
Dennd4a A T 9: 64,759,749 (GRCm39) T285S probably benign Het
Dgka A G 10: 128,566,058 (GRCm39) probably null Het
Dmd A T X: 82,922,163 (GRCm39) M1478L probably benign Het
Dvl1 G A 4: 155,942,486 (GRCm39) R584Q possibly damaging Het
Dync1li1 A T 9: 114,550,814 (GRCm39) S450C probably damaging Het
Ehbp1l1 A G 19: 5,760,697 (GRCm39) V1558A possibly damaging Het
Esr1 T A 10: 4,807,125 (GRCm39) M347K probably damaging Het
F2 T A 2: 91,463,440 (GRCm39) H148L probably benign Het
Fezf2 T C 14: 12,342,644 (GRCm38) N407S probably benign Het
Fscn3 T A 6: 28,430,235 (GRCm39) M135K possibly damaging Het
Ganab T G 19: 8,888,980 (GRCm39) Y560* probably null Het
Garem2 T C 5: 30,313,268 (GRCm39) V44A probably benign Het
Gja4 A G 4: 127,206,242 (GRCm39) W174R probably damaging Het
Gja5 A T 3: 96,958,957 (GRCm39) H338L probably benign Het
Gm43517 A G 12: 49,436,672 (GRCm39) probably benign Het
Iqch A T 9: 63,455,298 (GRCm39) D166E probably benign Het
Kifc5b T A 17: 27,145,271 (GRCm39) probably null Het
Kmt2b A T 7: 30,274,776 (GRCm39) M1976K possibly damaging Het
Leng1 A T 7: 3,668,415 (GRCm39) V11D probably damaging Het
Lrit3 A G 3: 129,594,130 (GRCm39) V149A probably benign Het
Lrpap1 A G 5: 35,259,756 (GRCm39) L114P probably damaging Het
Marveld3 T A 8: 110,686,380 (GRCm39) D162V probably benign Het
Mon2 A T 10: 122,874,388 (GRCm39) I320N probably damaging Het
Morc2b T C 17: 33,356,464 (GRCm39) Y436C probably damaging Het
Myo7a A T 7: 97,704,128 (GRCm39) V1928D probably damaging Het
Ncoa6 A G 2: 155,248,741 (GRCm39) V1521A possibly damaging Het
Nexmif A G X: 103,127,559 (GRCm39) S1453P possibly damaging Het
Nudt16l1 A G 16: 4,758,189 (GRCm39) M182V probably benign Het
Obp2b A T 2: 25,628,563 (GRCm39) I106L probably benign Het
Or10ag59 T A 2: 87,406,349 (GRCm39) L307Q probably damaging Het
Or4a2 T A 2: 89,248,755 (GRCm39) M1L probably damaging Het
Or5h18 T A 16: 58,847,774 (GRCm39) R165S probably damaging Het
Or8b43 T C 9: 38,360,984 (GRCm39) I272T probably benign Het
Parl T A 16: 20,121,077 (GRCm39) M1L possibly damaging Het
Pde7a G A 3: 19,281,963 (GRCm39) A429V probably damaging Het
Pkd1l2 T A 8: 117,770,100 (GRCm39) M1119L probably benign Het
Plch1 C T 3: 63,662,688 (GRCm39) V272I probably damaging Het
Plekha4 G A 7: 45,203,330 (GRCm39) G740D probably damaging Het
Pnliprp1 A G 19: 58,723,404 (GRCm39) D265G possibly damaging Het
Pola1 A C X: 92,640,867 (GRCm39) V384G probably damaging Het
Pot1b A G 17: 55,981,067 (GRCm39) C316R possibly damaging Het
Prkaca T A 8: 84,714,946 (GRCm39) V116E probably damaging Het
Prpf6 T G 2: 181,273,870 (GRCm39) M338R probably benign Het
Rasgef1c A G 11: 49,866,542 (GRCm39) H382R possibly damaging Het
Rlig1 A G 10: 100,413,166 (GRCm39) V91A probably damaging Het
Rps25 C T 9: 44,321,305 (GRCm39) T113I probably benign Het
Serpinb1b G T 13: 33,269,422 (GRCm39) A52S probably benign Het
Sh3yl1 A G 12: 30,972,332 (GRCm39) K34E possibly damaging Het
Siah2 C T 3: 58,583,518 (GRCm39) R256Q probably damaging Het
Slc24a2 A G 4: 86,991,481 (GRCm39) L404P probably damaging Het
Slc28a2 G A 2: 122,278,347 (GRCm39) C122Y probably benign Het
Slc4a8 T C 15: 100,705,257 (GRCm39) I821T probably damaging Het
Slc5a3 T C 16: 91,874,762 (GRCm39) V273A possibly damaging Het
Spag7 T C 11: 70,555,844 (GRCm39) Q61R probably benign Het
Syt7 A T 19: 10,395,402 (GRCm39) I71F probably damaging Het
Tars2 T C 3: 95,654,766 (GRCm39) N413S probably damaging Het
Tex14 T A 11: 87,400,447 (GRCm39) L413Q probably damaging Het
Tjp3 T C 10: 81,113,833 (GRCm39) E475G probably damaging Het
Tmem131l A G 3: 83,868,851 (GRCm39) S175P probably damaging Het
Tmem144 C T 3: 79,734,164 (GRCm39) V180M probably benign Het
Tmem200c A T 17: 69,147,956 (GRCm39) I180F probably damaging Het
Tmem232 G T 17: 65,791,482 (GRCm39) H129N probably benign Het
Tmprss11g T A 5: 86,646,391 (GRCm39) I59F probably damaging Het
Tmprss2 T A 16: 97,368,377 (GRCm39) probably null Het
Tor1aip2 T A 1: 155,927,588 (GRCm39) probably benign Het
Trim61 T C 8: 65,466,044 (GRCm39) I406V possibly damaging Het
Trpv5 T C 6: 41,634,871 (GRCm39) D486G probably damaging Het
Try5 T C 6: 41,288,703 (GRCm39) E64G probably benign Het
Txlnb A G 10: 17,675,168 (GRCm39) E107G probably damaging Het
Ube2frt A G 12: 36,140,595 (GRCm39) probably benign Het
Uckl1 T C 2: 181,212,320 (GRCm39) Q332R probably benign Het
Ugt2b1 T C 5: 87,065,572 (GRCm39) Y489C probably damaging Het
Ugt2b5 T A 5: 87,275,631 (GRCm39) M407L probably benign Het
Vmn1r191 A T 13: 22,362,985 (GRCm39) S256R possibly damaging Het
Vps13b T G 15: 35,925,554 (GRCm39) probably null Het
Vps13d A G 4: 144,882,713 (GRCm39) F960S probably damaging Het
Xab2 T A 8: 3,666,094 (GRCm39) D227V probably damaging Het
Xaf1 A T 11: 72,197,432 (GRCm39) D136V possibly damaging Het
Zan A G 5: 137,387,545 (GRCm39) S4889P unknown Het
Zfp78 A G 7: 6,381,558 (GRCm39) T203A probably benign Het
Zfp821 T C 8: 110,447,874 (GRCm39) S72P 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
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
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
Predicted Primers PCR Primer
(F):5'- AAGGACACCATCTCAATGTTCTTC -3'
(R):5'- GTCACATTTCACATCAGATGCC -3'

Sequencing Primer
(F):5'- TCTGGCCAGCTCTTCCAG -3'
(R):5'- TTTCACATCAGATGCCTATAAAACC -3'
Posted On 2014-08-01