Mutagenetix > Incidental Mutation

Incidental Mutation 'R1765:Pafah2'

194273

Institutional Source

Beutler Lab

Gene Symbol

Pafah2

Ensembl Gene

ENSMUSG00000037366

Gene Name

platelet-activating factor acetylhydrolase 2

Synonyms

2310074E22Rik

MMRRC Submission

039797-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134123631-134154723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134140758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 243 (T243A)

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: T218A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101495
Gene: ENSMUSG00000037366
AA Change: T218A

Domain	Start	End	E-Value	Type
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: T243A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101496
Gene: ENSMUSG00000037366
AA Change: T243A

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0709

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	G	T	15: 59,887,194 (GRCm39)	C415*	probably null	Het
Adamtsl2	A	C	2: 26,992,842 (GRCm39)	I652L	probably benign	Het
Adgrl4	T	C	3: 151,248,872 (GRCm39)	I720T	probably damaging	Het
Agrn	A	T	4: 156,261,284 (GRCm39)	C604*	probably null	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
B3galt2	C	A	1: 143,522,207 (GRCm39)	N114K	probably benign	Het
Bud23	A	T	5: 135,084,897 (GRCm39)	M59K	probably benign	Het
C3	C	T	17: 57,531,401 (GRCm39)		probably null	Het
C9orf72	A	C	4: 35,197,098 (GRCm39)	H322Q	probably damaging	Het
Cc2d2a	A	T	5: 43,871,873 (GRCm39)	D903V	probably damaging	Het
Ccdc9b	G	A	2: 118,591,128 (GRCm39)	A135V	probably benign	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdan1	A	C	2: 120,551,230 (GRCm39)	L1097V	probably damaging	Het
Cdc26	T	A	4: 62,313,155 (GRCm39)	N62I	probably benign	Het
Cdc27	G	T	11: 104,425,607 (GRCm39)	Q70K	probably damaging	Het
Cenpq	A	T	17: 41,235,178 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,239,200 (GRCm39)	S1858G	probably damaging	Het
Clasp1	T	C	1: 118,433,261 (GRCm39)	S247P	probably damaging	Het
Cyp2w1	C	T	5: 139,339,623 (GRCm39)	T71I	probably damaging	Het
Dcaf1	T	C	9: 106,741,793 (GRCm39)	F1336S	probably damaging	Het
Dennd6b	G	A	15: 89,074,506 (GRCm39)	Q104*	probably null	Het
Dglucy	T	A	12: 100,816,361 (GRCm39)		probably null	Het
Dnajc9	A	G	14: 20,438,158 (GRCm39)	V148A	possibly damaging	Het
Dnmbp	T	A	19: 43,890,579 (GRCm39)	D396V	possibly damaging	Het
Dock10	T	A	1: 80,583,540 (GRCm39)	I221F	probably damaging	Het
Dscam	T	C	16: 96,486,579 (GRCm39)	N1032S	probably benign	Het
Dsg4	A	C	18: 20,589,888 (GRCm39)	Y346S	probably benign	Het
Dync1i2	A	G	2: 71,079,759 (GRCm39)	H417R	probably benign	Het
Dysf	G	A	6: 84,167,884 (GRCm39)		probably null	Het
Elovl1	A	G	4: 118,287,707 (GRCm39)	M1V	probably null	Het
Eva1c	A	G	16: 90,701,135 (GRCm39)	S257G	probably benign	Het
Eya2	A	T	2: 165,566,723 (GRCm39)	D258V	probably damaging	Het
Fam193a	A	G	5: 34,593,841 (GRCm39)	T113A	probably damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fstl5	G	T	3: 76,500,783 (GRCm39)	R404L	possibly damaging	Het
Glud1	T	C	14: 34,047,541 (GRCm39)		probably benign	Het
Gm10770	A	C	2: 150,021,258 (GRCm39)	H86Q	probably damaging	Het
Gzme	C	T	14: 56,355,871 (GRCm39)	G147D	probably damaging	Het
Herc3	T	C	6: 58,865,645 (GRCm39)	V746A	probably damaging	Het
Hmga1	A	G	17: 27,778,592 (GRCm39)	E17G	probably damaging	Het
Kdelr2	A	T	5: 143,406,567 (GRCm39)	K206*	probably null	Het
Kng2	A	G	16: 22,806,993 (GRCm39)		probably null	Het
Lrrc41	G	A	4: 115,946,248 (GRCm39)	R321H	possibly damaging	Het
Mapkapk2	A	T	1: 130,986,498 (GRCm39)	M1K	probably null	Het
Me2	A	G	18: 73,924,929 (GRCm39)	F263L	probably damaging	Het
Mkks	A	G	2: 136,722,287 (GRCm39)	L290P	probably damaging	Het
Mmp12	T	A	9: 7,354,772 (GRCm39)	I255N	probably damaging	Het
Mogs	A	G	6: 83,093,784 (GRCm39)	D251G	probably benign	Het
Morf4l1	T	A	9: 89,984,401 (GRCm39)	Y65F	possibly damaging	Het
Neb	T	C	2: 52,094,676 (GRCm39)	D5169G	probably damaging	Het
Nin	A	G	12: 70,089,665 (GRCm39)	L1250P	probably damaging	Het
Nomo1	G	T	7: 45,715,717 (GRCm39)	G721V	possibly damaging	Het
Notch2	T	G	3: 98,029,242 (GRCm39)	C1002G	probably damaging	Het
Npat	T	C	9: 53,481,522 (GRCm39)	Y1077H	probably benign	Het
Or1e1c	T	A	11: 73,266,170 (GRCm39)	N198K	probably damaging	Het
Or4g17	G	A	2: 111,209,491 (GRCm39)	V49I	probably benign	Het
Or4p21	A	T	2: 88,276,367 (GRCm39)	F305Y	probably damaging	Het
Or5h25	A	G	16: 58,930,118 (GRCm39)	L285P	probably damaging	Het
Or8c16	T	C	9: 38,130,548 (GRCm39)	I143T	probably benign	Het
Otop2	A	T	11: 115,215,504 (GRCm39)	I142F	probably benign	Het
Pacsin3	A	G	2: 91,093,460 (GRCm39)	E279G	possibly damaging	Het
Pcdhgc5	A	G	18: 37,954,913 (GRCm39)	H729R	probably benign	Het
Plcd1	T	C	9: 118,900,874 (GRCm39)	D756G	probably damaging	Het
Prune2	A	G	19: 17,102,962 (GRCm39)	E2707G	probably damaging	Het
Rit2	C	T	18: 31,449,951 (GRCm39)	G16S	probably damaging	Het
Sec24c	A	G	14: 20,738,922 (GRCm39)		probably benign	Het
Skint5	G	T	4: 113,434,858 (GRCm39)	T1037K	unknown	Het
Slc28a2	T	A	2: 122,290,876 (GRCm39)		probably null	Het
Slc41a2	G	A	10: 83,137,130 (GRCm39)	A259V	probably damaging	Het
Slc6a17	T	A	3: 107,380,895 (GRCm39)	I537F	possibly damaging	Het
Slco1a7	T	C	6: 141,700,084 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,707,196 (GRCm39)		probably benign	Het
Smg1	T	C	7: 117,738,938 (GRCm39)	I3489V	probably benign	Het
Sytl3	T	C	17: 6,967,082 (GRCm39)	L142P	probably damaging	Het
Tektl1	A	T	10: 78,584,502 (GRCm39)	M340K	probably benign	Het
Tfr2	C	T	5: 137,581,707 (GRCm39)	T598I	probably damaging	Het
Tmc2	A	G	2: 130,102,145 (GRCm39)	Q770R	probably benign	Het
Tnc	C	T	4: 63,932,231 (GRCm39)	V728M	probably damaging	Het
Trim68	A	T	7: 102,329,597 (GRCm39)	M177K	possibly damaging	Het
Trmt11	T	C	10: 30,435,184 (GRCm39)	D325G	probably benign	Het
Ube3a	C	T	7: 58,935,862 (GRCm39)	T582I	probably damaging	Het
Usp13	G	A	3: 32,969,919 (GRCm39)	E682K	probably benign	Het
Usp9y	A	G	Y: 1,384,454 (GRCm39)	V688A	possibly damaging	Het
Uts2r	A	G	11: 121,052,095 (GRCm39)	T320A	possibly damaging	Het
Vmn1r34	A	T	6: 66,614,480 (GRCm39)	M86K	probably damaging	Het
Vsig10	A	G	5: 117,456,880 (GRCm39)		probably benign	Het
Zbtb41	T	A	1: 139,368,132 (GRCm39)	C607S	probably benign	Het

Other mutations in Pafah2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CAGAACCTGTGTGATCTGCGAGAG -3'
(R):5'- GGATGAAGGCCCCATATGCACAAG -3'

Sequencing Primer
(F):5'- TGGGCAGACCCCCTTTC -3'
(R):5'- aaggaaactgagcccatagac -3'

Posted On

2014-05-23