Incidental Mutation 'R6088:Pafah2'
ID 486083
Institutional Source Beutler Lab
Gene Symbol Pafah2
Ensembl Gene ENSMUSG00000037366
Gene Name platelet-activating factor acetylhydrolase 2
Synonyms 2310074E22Rik
MMRRC Submission 044245-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6088 (G1)
Quality Score 207.009
Status Not validated
Chromosome 4
Chromosomal Location 134123631-134154723 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134140692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 221 (I221V)
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: I196V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101495
Gene: ENSMUSG00000037366
AA Change: I196V

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: I221V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101496
Gene: ENSMUSG00000037366
AA Change: I221V

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: ENSMUST00000131337
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148863
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency 98% (59/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 G T 18: 59,035,174 (GRCm39) V360F probably damaging Het
Ankrd17 C T 5: 90,401,547 (GRCm39) E1605K possibly damaging Het
Arid4a A G 12: 71,069,010 (GRCm39) D54G probably damaging Het
Baz2a TCTCCTC TCTC 10: 127,950,511 (GRCm39) probably benign Het
Bltp3a G A 17: 28,103,579 (GRCm39) probably null Het
Card6 A T 15: 5,134,501 (GRCm39) V234E possibly damaging Het
Cd1d1 G T 3: 86,906,009 (GRCm39) Q89K probably benign Het
Ciita G A 16: 10,329,795 (GRCm39) R693K probably damaging Het
Cox7a2l G T 17: 83,811,401 (GRCm39) L77I probably benign Het
Crybg2 A T 4: 133,803,101 (GRCm39) probably null Het
Cts8 T C 13: 61,401,780 (GRCm39) N39S probably benign Het
Def8 G T 8: 124,186,787 (GRCm39) E456* probably null Het
Dld A G 12: 31,390,988 (GRCm39) F153L probably benign Het
Elf1 C T 14: 79,804,701 (GRCm39) T122I probably benign Het
Emilin2 T C 17: 71,562,119 (GRCm39) N961S probably benign Het
Esp24 A G 17: 39,350,901 (GRCm39) I34V probably benign Het
Fam184b C A 5: 45,741,354 (GRCm39) K292N probably damaging Het
Gabrg3 T A 7: 56,634,826 (GRCm39) N119I probably damaging Het
Gucy1b1 T C 3: 81,942,187 (GRCm39) H524R probably damaging Het
Kcp A T 6: 29,502,631 (GRCm39) S205T probably benign Het
Klb C T 5: 65,506,356 (GRCm39) T201M probably benign Het
Lamp3 A T 16: 19,492,148 (GRCm39) F365L probably damaging Het
Mad1l1 T A 5: 140,179,718 (GRCm39) H390L probably benign Het
Mlxipl T C 5: 135,162,884 (GRCm39) Y711H possibly damaging Het
Myo5b T A 18: 74,853,969 (GRCm39) L1196Q possibly damaging Het
Ndufb8 A G 19: 44,543,464 (GRCm39) S70P probably benign Het
Neb T C 2: 52,099,354 (GRCm39) D4832G probably damaging Het
Niban2 T C 2: 32,813,135 (GRCm39) V540A probably damaging Het
Nr5a1 T C 2: 38,592,007 (GRCm39) D322G probably benign Het
Or1e1d-ps1 A T 11: 73,819,649 (GRCm39) T273S probably benign Het
Or5ak20 T A 2: 85,183,698 (GRCm39) S191C probably damaging Het
Oscar G A 7: 3,614,311 (GRCm39) P143S probably benign Het
Oxa1l T A 14: 54,605,151 (GRCm39) probably null Het
Pibf1 T A 14: 99,416,794 (GRCm39) F456I probably benign Het
Pla2g4d C T 2: 120,100,487 (GRCm39) G615D probably damaging Het
Plekhg2 C T 7: 28,060,438 (GRCm39) V964I probably benign Het
Ppip5k1 C A 2: 121,167,944 (GRCm39) V770L probably benign Het
Ppl A T 16: 4,922,852 (GRCm39) L213Q possibly damaging Het
Ptprf G A 4: 118,067,952 (GRCm39) T1785I possibly damaging Het
Pycr2 G A 1: 180,733,801 (GRCm39) G131E probably damaging Het
Rbpj C T 5: 53,808,710 (GRCm39) probably null Het
Rcc1 G T 4: 132,060,153 (GRCm39) D430E probably benign Het
Rhbdf1 A G 11: 32,162,007 (GRCm39) V525A possibly damaging Het
Samd7 G A 3: 30,810,632 (GRCm39) M216I probably benign Het
Ska3 A T 14: 58,054,151 (GRCm39) D266E probably benign Het
Slc1a7 G A 4: 107,869,641 (GRCm39) V569M probably damaging Het
Slc26a1 C T 5: 108,821,872 (GRCm39) E6K possibly damaging Het
Slc4a4 T A 5: 89,345,563 (GRCm39) V741E probably benign Het
St6galnac3 C T 3: 152,912,352 (GRCm39) G164S probably damaging Het
Tgs1 T A 4: 3,595,383 (GRCm39) N517K probably benign Het
Tns4 A G 11: 98,964,546 (GRCm39) S522P probably damaging Het
Trpm1 A T 7: 63,917,724 (GRCm39) M355L probably damaging Het
Trpm8 G A 1: 88,234,400 (GRCm39) probably benign Het
V1ra8 T C 6: 90,180,082 (GRCm39) F95S probably damaging Het
Zfp521 A C 18: 13,979,166 (GRCm39) S416A possibly damaging Het
Zfp574 T A 7: 24,779,764 (GRCm39) V262E probably benign Het
Zfp740 T A 15: 102,117,243 (GRCm39) I77N probably damaging Het
Zscan18 A T 7: 12,509,125 (GRCm39) probably benign Het
Other mutations in Pafah2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03283:Pafah2 APN 4 134,145,408 (GRCm39) missense probably damaging 1.00
R0368:Pafah2 UTSW 4 134,149,802 (GRCm39) missense probably benign 0.37
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
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'- TTAGGTCCACTCACTATTGCTG -3'
(R):5'- TAGCTCTCACTATGCTGGCC -3'

Sequencing Primer
(F):5'- CAGAACCTGTGTGATCTGCGAG -3'
(R):5'- TCACTATGCTGGCCCGAGG -3'
Posted On 2017-08-16