Incidental Mutation 'R0368:Pafah2'
ID 30317
Institutional Source Beutler Lab
Gene Symbol Pafah2
Ensembl Gene ENSMUSG00000037366
Gene Name platelet-activating factor acetylhydrolase 2
Synonyms 2310074E22Rik
MMRRC Submission 038574-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0368 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 134123631-134154723 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134149802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 371 (V371A)
Ref Sequence ENSEMBL: ENSMUSP00000101496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105869] [ENSMUST00000105870]
AlphaFold Q8VDG7
Predicted Effect probably benign
Transcript: ENSMUST00000105869
AA Change: V346A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000101495
Gene: ENSMUSG00000037366
AA Change: V346A

DomainStartEndE-ValueType
Pfam:PAF-AH_p_II 1 379 4.7e-157 PFAM
Pfam:Chlorophyllase2 92 263 4.4e-9 PFAM
Pfam:Abhydrolase_5 102 313 1.2e-16 PFAM
Pfam:Abhydrolase_6 103 276 7.2e-9 PFAM
Pfam:Peptidase_S9 200 265 1.8e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105870
AA Change: V371A

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101496
Gene: ENSMUSG00000037366
AA Change: V371A

DomainStartEndE-ValueType
Pfam:PAF-AH_p_II 26 404 8e-157 PFAM
Pfam:DLH 116 342 1.1e-6 PFAM
Pfam:Abhydrolase_5 127 338 4.8e-17 PFAM
Pfam:Peptidase_S9 226 291 5.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145626
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.7%
  • 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 platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). However, this lipase exhibits a broader substrate specificity than simply platelet activating factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and both are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this enzyme. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased sensitivity to hepatic injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A T 19: 8,985,714 (GRCm39) K2333* probably null Het
Aox4 C T 1: 58,252,238 (GRCm39) L38F probably benign Het
Arhgef15 T C 11: 68,845,519 (GRCm39) E111G probably damaging Het
Atp8a2 A T 14: 60,097,661 (GRCm39) I789N probably damaging Het
Cdca2 A G 14: 67,937,796 (GRCm39) S286P possibly damaging Het
Chrnb1 T A 11: 69,675,583 (GRCm39) K457M probably damaging Het
Cimip2a T A 2: 25,110,685 (GRCm39) D164E probably benign Het
Clec2g A G 6: 128,957,224 (GRCm39) I61V possibly damaging Het
Cyb5r3 G A 15: 83,042,993 (GRCm39) A233V probably benign Het
Cyp4a10 T A 4: 115,382,574 (GRCm39) L278* probably null Het
Dnmt1 T C 9: 20,853,053 (GRCm39) E56G probably damaging Het
Fbln5 A G 12: 101,775,973 (GRCm39) probably null Het
Fhip2a A G 19: 57,357,010 (GRCm39) T34A possibly damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gabrr3 A G 16: 59,260,959 (GRCm39) D289G probably damaging Het
Gpr45 T C 1: 43,072,176 (GRCm39) L273P probably damaging Het
Hkdc1 T C 10: 62,247,486 (GRCm39) E125G probably null Het
Il25 A G 14: 55,172,631 (GRCm39) probably null Het
Itfg1 A T 8: 86,491,036 (GRCm39) W298R probably damaging Het
Kank1 A T 19: 25,387,967 (GRCm39) K547* probably null Het
Lama5 G A 2: 179,823,023 (GRCm39) R2748* probably null Het
Lrp4 C T 2: 91,308,079 (GRCm39) T508I probably damaging Het
Map3k10 C T 7: 27,362,785 (GRCm39) V434I probably damaging Het
Map3k6 A G 4: 132,979,970 (GRCm39) M1265V probably benign Het
Mocs3 C T 2: 168,073,602 (GRCm39) P350S probably benign Het
Msh4 T A 3: 153,594,462 (GRCm39) Y113F probably damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Nrip1 A G 16: 76,090,904 (GRCm39) S218P probably damaging Het
Olig1 C T 16: 91,067,540 (GRCm39) S259F probably damaging Het
Or4k37 T C 2: 111,159,132 (GRCm39) Y123H probably damaging Het
Or4k41 T C 2: 111,280,133 (GRCm39) I216T probably benign Het
Osbpl9 A G 4: 108,924,129 (GRCm39) V499A probably damaging Het
Pkp1 T A 1: 135,803,421 (GRCm39) M712L probably benign Het
Pkp1 T C 1: 135,814,590 (GRCm39) S244G probably benign Het
Ppp1r3a T C 6: 14,718,959 (GRCm39) T652A probably benign Het
Rab21 A T 10: 115,134,795 (GRCm39) V108E probably damaging Het
Rab5b C T 10: 128,518,772 (GRCm39) R120Q probably benign Het
Scd2 G A 19: 44,289,685 (GRCm39) V227I probably benign Het
Sema5b T A 16: 35,448,470 (GRCm39) V82E probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Slc13a2 A T 11: 78,295,626 (GRCm39) L80* probably null Het
Slc1a5 C T 7: 16,516,103 (GRCm39) P93L probably damaging Het
Slc35b2 T C 17: 45,877,389 (GRCm39) V172A probably benign Het
Slfn8 A G 11: 82,907,958 (GRCm39) L195P probably damaging Het
Smox G A 2: 131,364,078 (GRCm39) S320N probably damaging Het
Sptan1 T C 2: 29,883,927 (GRCm39) V589A probably benign Het
Stim2 G A 5: 54,267,482 (GRCm39) probably null Het
V1ra8 A G 6: 90,179,944 (GRCm39) D49G probably damaging Het
Vmn1r233 A T 17: 21,214,869 (GRCm39) V27D possibly damaging Het
Vmn2r98 A T 17: 19,286,089 (GRCm39) K196* probably null Het
Wdr77 T C 3: 105,869,382 (GRCm39) probably null Het
Other mutations in Pafah2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03283:Pafah2 APN 4 134,145,408 (GRCm39) missense probably damaging 1.00
R1456:Pafah2 UTSW 4 134,131,468 (GRCm39) missense probably damaging 1.00
R1765:Pafah2 UTSW 4 134,140,758 (GRCm39) missense probably benign 0.04
R1846:Pafah2 UTSW 4 134,152,852 (GRCm39) frame shift probably null
R1847:Pafah2 UTSW 4 134,152,852 (GRCm39) frame shift probably null
R1848:Pafah2 UTSW 4 134,152,852 (GRCm39) frame shift probably null
R2984:Pafah2 UTSW 4 134,139,182 (GRCm39) missense possibly damaging 0.94
R5921:Pafah2 UTSW 4 134,145,380 (GRCm39) missense probably benign 0.17
R6088:Pafah2 UTSW 4 134,140,692 (GRCm39) missense probably benign 0.02
R7289:Pafah2 UTSW 4 134,147,308 (GRCm39) missense probably damaging 1.00
R9128:Pafah2 UTSW 4 134,147,281 (GRCm39) missense probably damaging 1.00
R9202:Pafah2 UTSW 4 134,131,440 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGATGCTGCCCTGGCAGAATTAC -3'
(R):5'- TGTGCTGATGTGCTGACCACTC -3'

Sequencing Primer
(F):5'- CTGGCAGAATTACCCTGACATATAG -3'
(R):5'- TGACCACTCTTTCAGCCAG -3'
Posted On 2013-04-24