Incidental Mutation 'IGL03283:Pafah2'
ID 415649
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pafah2
Ensembl Gene ENSMUSG00000037366
Gene Name platelet-activating factor acetylhydrolase 2
Synonyms 2310074E22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03283
Quality Score
Status
Chromosome 4
Chromosomal Location 134123631-134154723 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 134145408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 264 (T264M)
Ref Sequence ENSEMBL: ENSMUSP00000101496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105869] [ENSMUST00000105870]
AlphaFold Q8VDG7
Predicted Effect probably damaging
Transcript: ENSMUST00000105869
AA Change: T239M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101495
Gene: ENSMUSG00000037366
AA Change: T239M

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 damaging
Transcript: ENSMUST00000105870
AA Change: T264M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101496
Gene: ENSMUSG00000037366
AA Change: T264M

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
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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bicdl2 A G 17: 23,886,155 (GRCm39) E361G probably damaging Het
Cd163 A G 6: 124,286,158 (GRCm39) D236G possibly damaging Het
Cep76 A T 18: 67,773,139 (GRCm39) I53N possibly damaging Het
Cfap43 A G 19: 47,779,851 (GRCm39) probably benign Het
Champ1 T C 8: 13,928,786 (GRCm39) S315P probably benign Het
Ctdsp2 A G 10: 126,832,266 (GRCm39) T91A probably benign Het
Cyp4a32 G T 4: 115,468,280 (GRCm39) K283N possibly damaging Het
Dgki A G 6: 36,914,246 (GRCm39) probably benign Het
Fads2b A C 2: 85,320,751 (GRCm39) F351V probably damaging Het
Gabrr2 A G 4: 33,082,364 (GRCm39) probably benign Het
Garin4 C T 1: 190,895,029 (GRCm39) R538H probably benign Het
Gm5414 G T 15: 101,535,522 (GRCm39) Q188K probably damaging Het
Grik2 A T 10: 49,454,365 (GRCm39) M50K probably benign Het
Muc5ac A G 7: 141,367,518 (GRCm39) M2980V probably benign Het
Tacc2 A G 7: 130,343,996 (GRCm39) M2552V possibly damaging Het
Usp3 C T 9: 66,469,831 (GRCm39) probably null Het
Other mutations in Pafah2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9202:Pafah2 UTSW 4 134,131,440 (GRCm39) missense probably benign 0.02
Posted On 2016-08-02