Incidental Mutation 'IGL03283:Pafah2'
ID415649
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pafah2
Ensembl Gene ENSMUSG00000037366
Gene Nameplatelet-activating factor acetylhydrolase 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03283
Quality Score
Status
Chromosome4
Chromosomal Location134396320-134427413 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 134418097 bp
ZygosityHeterozygous
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]
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
4833423E24Rik A C 2: 85,490,407 F351V probably damaging Het
Bicdl2 A G 17: 23,667,181 E361G probably damaging Het
Cd163 A G 6: 124,309,199 D236G possibly damaging Het
Cep76 A T 18: 67,640,069 I53N possibly damaging Het
Cfap43 A G 19: 47,791,412 probably benign Het
Champ1 T C 8: 13,878,786 S315P probably benign Het
Ctdsp2 A G 10: 126,996,397 T91A probably benign Het
Cyp4a32 G T 4: 115,611,083 K283N possibly damaging Het
Dgki A G 6: 36,937,311 probably benign Het
Fam71a C T 1: 191,162,832 R538H probably benign Het
Gabrr2 A G 4: 33,082,364 probably benign Het
Gm5414 G T 15: 101,627,087 Q188K probably damaging Het
Grik2 A T 10: 49,578,269 M50K probably benign Het
Muc5ac A G 7: 141,813,781 M2980V probably benign Het
Tacc2 A G 7: 130,742,266 M2552V possibly damaging Het
Usp3 C T 9: 66,562,549 probably null Het
Other mutations in Pafah2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0368:Pafah2 UTSW 4 134422491 missense probably benign 0.37
R1456:Pafah2 UTSW 4 134404157 missense probably damaging 1.00
R1765:Pafah2 UTSW 4 134413447 missense probably benign 0.04
R1846:Pafah2 UTSW 4 134425541 frame shift probably null
R1847:Pafah2 UTSW 4 134425541 frame shift probably null
R1848:Pafah2 UTSW 4 134425541 frame shift probably null
R2984:Pafah2 UTSW 4 134411871 missense possibly damaging 0.94
R5921:Pafah2 UTSW 4 134418069 missense probably benign 0.17
R6088:Pafah2 UTSW 4 134413381 missense probably benign 0.02
R7289:Pafah2 UTSW 4 134419997 missense probably damaging 1.00
Posted On2016-08-02