Incidental Mutation 'R9202:Pafah2'
ID 698268
Institutional Source Beutler Lab
Gene Symbol Pafah2
Ensembl Gene ENSMUSG00000037366
Gene Name platelet-activating factor acetylhydrolase 2
Synonyms 2310074E22Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9202 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 134123631-134154723 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134131440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 68 (S68P)
Ref Sequence ENSEMBL: ENSMUSP00000101496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105869] [ENSMUST00000105870] [ENSMUST00000132658]
AlphaFold Q8VDG7
Predicted Effect probably benign
Transcript: ENSMUST00000105869
AA Change: S43P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101495
Gene: ENSMUSG00000037366
AA Change: S43P

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: S68P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101496
Gene: ENSMUSG00000037366
AA Change: S68P

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 probably benign
Transcript: ENSMUST00000132658
AA Change: S43P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000117607
Gene: ENSMUSG00000037366
AA Change: S43P

DomainStartEndE-ValueType
Pfam:PAF-AH_p_II 1 103 2e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 95% (41/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 A T 3: 127,479,938 (GRCm39) I17K Het
Ampd3 T C 7: 110,402,346 (GRCm39) I441T probably damaging Het
Ankrd31 C T 13: 97,015,383 (GRCm39) Q1551* probably null Het
Asphd1 T A 7: 126,547,934 (GRCm39) Y123F probably damaging Het
Atf2 A G 2: 73,649,472 (GRCm39) S380P probably damaging Het
Bltp1 A G 3: 36,944,970 (GRCm39) S310G probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cep72 G T 13: 74,198,420 (GRCm39) T320K probably benign Het
Clip4 G A 17: 72,117,884 (GRCm39) G310R probably damaging Het
Ctnna3 T G 10: 64,708,947 (GRCm39) M662R probably damaging Het
Cyp2r1 T G 7: 114,152,047 (GRCm39) probably benign Het
Flvcr1 T A 1: 190,744,351 (GRCm39) Y399F probably benign Het
Gimap8 T A 6: 48,633,403 (GRCm39) F407L probably benign Het
Insrr C T 3: 87,720,427 (GRCm39) R1022W probably damaging Het
Ipo4 A T 14: 55,868,597 (GRCm39) probably null Het
Klhl35 A G 7: 99,120,212 (GRCm39) N363S probably benign Het
Loxl4 T C 19: 42,593,452 (GRCm39) T240A probably benign Het
Med23 T C 10: 24,780,202 (GRCm39) V950A probably benign Het
Nceh1 A G 3: 27,333,428 (GRCm39) I175V probably benign Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Or3a10 A G 11: 73,935,441 (GRCm39) S220P probably damaging Het
Or5ac24 T C 16: 59,165,618 (GRCm39) I149V probably benign Het
Or5m5 T A 2: 85,814,801 (GRCm39) F206I probably damaging Het
Osbpl5 T C 7: 143,254,498 (GRCm39) D515G probably benign Het
Pcnx2 T A 8: 126,616,416 (GRCm39) probably null Het
Pde11a G T 2: 75,853,077 (GRCm39) S847* probably null Het
Pramel11 T A 4: 143,623,646 (GRCm39) N176I probably benign Het
Pramel19 A G 4: 101,797,860 (GRCm39) D86G probably damaging Het
Ptprq C T 10: 107,522,416 (GRCm39) V546I probably damaging Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Ripk2 C A 4: 16,124,502 (GRCm39) G402V probably benign Het
Speg T C 1: 75,367,637 (GRCm39) S715P probably damaging Het
Ttll12 A G 15: 83,466,264 (GRCm39) F399S probably damaging Het
Ugt1a2 G T 1: 88,128,375 (GRCm39) C6F probably benign Het
Vars2 T C 17: 35,977,551 (GRCm39) Y127C probably damaging Het
Vars2 T C 17: 35,974,444 (GRCm39) probably null Het
Vmn2r95 T C 17: 18,644,394 (GRCm39) F10S probably benign Het
Wdr12 T C 1: 60,121,205 (GRCm39) D371G possibly damaging Het
Wdr89 C T 12: 75,679,943 (GRCm39) E104K probably benign Het
Zbtb1 G T 12: 76,433,784 (GRCm39) R590L probably damaging Het
Zfhx3 A G 8: 109,677,920 (GRCm39) D2990G possibly damaging Het
Zfp710 G A 7: 79,731,609 (GRCm39) G262D probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GGAAATGCACTTGACAGTCAGG -3'
(R):5'- GCTAAATAGTTCCTGTGTCTGC -3'

Sequencing Primer
(F):5'- GTCAGGACATAAGCCCTCTGATG -3'
(R):5'- AAATAGTTCCTGTGTCTGCCTGGG -3'
Posted On 2022-02-07