Incidental Mutation 'R6433:Pla2g7'
ID518667
Institutional Source Beutler Lab
Gene Symbol Pla2g7
Ensembl Gene ENSMUSG00000023913
Gene Namephospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
SynonymsPAF acetylhydrolase
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6433 (G1)
Quality Score225.009
Status Validated
Chromosome17
Chromosomal Location43568098-43612201 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to C at 43599126 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Proline at position 174 (A174P)
Ref Sequence ENSEMBL: ENSMUSP00000132027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024706] [ENSMUST00000167214] [ENSMUST00000167418] [ENSMUST00000169694]
Predicted Effect probably damaging
Transcript: ENSMUST00000024706
AA Change: A174P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024706
Gene: ENSMUSG00000023913
AA Change: A174P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:PAF-AH_p_II 47 415 6e-179 PFAM
Pfam:Abhydrolase_5 145 351 3.2e-18 PFAM
Pfam:Abhydrolase_1 215 318 2.8e-7 PFAM
Pfam:Peptidase_S9 247 356 2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163489
Predicted Effect probably damaging
Transcript: ENSMUST00000167214
AA Change: A174P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130404
Gene: ENSMUSG00000023913
AA Change: A174P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:PAF-AH_p_II 47 210 7.9e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167418
SMART Domains Protein: ENSMUSP00000131898
Gene: ENSMUSG00000023913

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:PAF-AH_p_II 47 122 1e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169694
AA Change: A174P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132027
Gene: ENSMUSG00000023913
AA Change: A174P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:PAF-AH_p_II 47 298 6.1e-120 PFAM
Pfam:Abhydrolase_5 145 298 1.4e-15 PFAM
Pfam:Abhydrolase_6 146 298 4.5e-11 PFAM
Pfam:Peptidase_S9 246 298 4.1e-8 PFAM
Meta Mutation Damage Score 0.4640 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced early mortality in response to bacterial exposure, formula feeding and asphyxia, but survivors show a significantly higher incidence of necrotizing enterocolitis relative to wild-type controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T A 17: 13,881,299 D1016E probably damaging Het
Aplnr A T 2: 85,136,673 Q14L probably benign Het
Aspm T C 1: 139,473,683 L1147S probably damaging Het
Atad2b A G 12: 4,952,642 T337A possibly damaging Het
Atrn A G 2: 131,023,027 E1358G probably damaging Het
Caml C A 13: 55,623,249 S53R possibly damaging Het
Cd180 T G 13: 102,705,633 S396A probably benign Het
Cdhr2 A G 13: 54,718,512 T344A probably damaging Het
Cyp4a31 A C 4: 115,570,269 D224A probably damaging Het
Dhx36 T C 3: 62,484,974 T544A probably damaging Het
Dnah14 A G 1: 181,651,657 K1528E probably damaging Het
Dnpep T A 1: 75,315,378 K199N probably benign Het
Dsc2 C T 18: 20,051,175 probably null Het
Efl1 T A 7: 82,674,568 D239E probably damaging Het
Elovl4 A G 9: 83,785,178 V42A possibly damaging Het
Exoc3 T C 13: 74,189,187 T432A possibly damaging Het
Fam98c A G 7: 29,156,128 probably null Het
Fbln2 G A 6: 91,233,272 G66D probably damaging Het
Fchsd1 G A 18: 37,964,084 T410I possibly damaging Het
Flcn T C 11: 59,801,082 D247G probably damaging Het
Galnt16 T C 12: 80,575,903 V127A probably benign Het
H2-Ob A T 17: 34,243,886 probably null Het
Has2 G A 15: 56,667,798 S507F possibly damaging Het
Ido2 T A 8: 24,533,923 M300L probably damaging Het
Itga10 T C 3: 96,658,041 probably null Het
Klra9 G T 6: 130,179,032 Y253* probably null Het
Mfsd2a A G 4: 122,950,457 V299A probably benign Het
Mybpc1 T C 10: 88,560,355 D210G probably damaging Het
Ndrg1 A T 15: 66,933,872 M128K probably damaging Het
Obscn T A 11: 59,051,558 T5091S probably benign Het
Olfr137 A G 17: 38,305,413 L16P probably damaging Het
Pex5 A T 6: 124,413,613 M91K possibly damaging Het
Phlpp2 G T 8: 109,934,685 A810S probably benign Het
Plxna4 C T 6: 32,215,678 V783M probably damaging Het
Poll A T 19: 45,553,604 M421K probably benign Het
Ppfia2 C A 10: 106,913,698 S1148R possibly damaging Het
Prkg1 A G 19: 30,781,346 F280S probably benign Het
Rdh10 G A 1: 16,107,855 C117Y probably damaging Het
Rtl1 C A 12: 109,595,196 A70S unknown Het
Scgb2b3 A T 7: 31,359,067 L104I probably benign Het
Sh3tc1 T C 5: 35,706,597 R749G probably damaging Het
Skint4 A G 4: 112,146,510 K380R probably benign Het
Smtnl1 A C 2: 84,818,368 S181A probably benign Het
Spata31d1b T C 13: 59,717,185 S716P probably damaging Het
Spc25 A G 2: 69,206,102 probably benign Het
Stab2 C T 10: 86,901,567 probably null Het
Timm22 T C 11: 76,409,744 V114A possibly damaging Het
Timp4 A G 6: 115,247,220 C163R probably damaging Het
Toporsl T A 4: 52,611,548 N480K possibly damaging Het
Tpo T C 12: 30,084,754 E735G probably benign Het
Trpm3 A G 19: 22,901,305 D692G probably damaging Het
Ttn T C 2: 76,751,714 H22945R probably damaging Het
Vmn2r6 A T 3: 64,547,380 Y499* probably null Het
Vwa1 G A 4: 155,772,769 H191Y probably benign Het
Other mutations in Pla2g7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Pla2g7 APN 17 43602871 missense probably damaging 1.00
R0026:Pla2g7 UTSW 17 43594930 splice site probably benign
R0421:Pla2g7 UTSW 17 43611412 missense probably damaging 0.96
R1701:Pla2g7 UTSW 17 43600524 missense probably damaging 1.00
R4591:Pla2g7 UTSW 17 43600559 missense probably damaging 0.98
R5100:Pla2g7 UTSW 17 43611376 missense probably damaging 1.00
R5713:Pla2g7 UTSW 17 43594292 missense probably benign 0.03
R6404:Pla2g7 UTSW 17 43594797 missense probably damaging 1.00
R7180:Pla2g7 UTSW 17 43599076 missense probably damaging 1.00
R7903:Pla2g7 UTSW 17 43600621 splice site probably null
R7998:Pla2g7 UTSW 17 43611318 missense probably benign 0.01
Z1176:Pla2g7 UTSW 17 43602919 missense probably benign
Predicted Primers PCR Primer
(F):5'- TCTGAAGATGAGAGCTCTCCAG -3'
(R):5'- GCTTCAGCTTACTCCATGACAG -3'

Sequencing Primer
(F):5'- AGAGCTCTCCAGTGTGCTGAATC -3'
(R):5'- CACGAGCTGCTTTAAAGGTC -3'
Posted On2018-05-24