Mutagenetix > Incidental Mutation

Incidental Mutation 'R1847:Pafah2'

207791

Institutional Source

Beutler Lab

Gene Symbol

Pafah2

Ensembl Gene

ENSMUSG00000037366

Gene Name

platelet-activating factor acetylhydrolase 2

Synonyms

2310074E22Rik

MMRRC Submission

039872-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1847 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

134123631-134154723 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GCCCC to GCCCCC at 134152852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105869] [ENSMUST00000105870]

AlphaFold

Q8VDG7

Predicted Effect

probably null
Transcript: ENSMUST00000105869

SMART Domains

Protein: ENSMUSP00000101495
Gene: ENSMUSG00000037366

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 null
Transcript: ENSMUST00000105870

SMART Domains

Protein: ENSMUSP00000101496
Gene: ENSMUSG00000037366

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: ENSMUST00000145626

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

97% (68/70)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	C	A	16: 14,263,313 (GRCm39)	R758S	probably benign	Het
Acnat1	A	T	4: 49,447,716 (GRCm39)	H288Q	possibly damaging	Het
Adamts1	T	C	16: 85,599,114 (GRCm39)	E162G	possibly damaging	Het
Akap11	A	G	14: 78,751,101 (GRCm39)	S429P	probably benign	Het
Alg14	T	C	3: 121,155,415 (GRCm39)	Y212H	probably damaging	Het
Cacna1g	T	C	11: 94,357,007 (GRCm39)	T97A	probably damaging	Het
Ccdc112	T	A	18: 46,420,821 (GRCm39)	N310Y	possibly damaging	Het
Cenpl	A	T	1: 160,913,574 (GRCm39)	Y328F	probably damaging	Het
Cep162	G	A	9: 87,086,133 (GRCm39)	H1064Y	probably benign	Het
Cnksr3	T	A	10: 7,104,324 (GRCm39)	E126D	probably benign	Het
Ctsh	T	A	9: 89,943,618 (GRCm39)	M81K	probably benign	Het
D6Wsu163e	A	G	6: 126,932,112 (GRCm39)	T284A	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnaaf1	T	A	8: 120,309,616 (GRCm39)	M196K	probably benign	Het
Dnah9	C	A	11: 65,725,212 (GRCm39)	G4314C	probably damaging	Het
Dph1	A	G	11: 75,070,557 (GRCm39)	Y361H	probably damaging	Het
Ect2	C	T	3: 27,204,221 (GRCm39)	M29I	probably benign	Het
Eif3h	T	C	15: 51,661,066 (GRCm39)	Y167C	probably damaging	Het
Epc2	C	T	2: 49,422,101 (GRCm39)	R332C	probably damaging	Het
Fras1	C	A	5: 96,897,282 (GRCm39)		probably null	Het
Gfm2	A	G	13: 97,299,442 (GRCm39)	I386V	probably benign	Het
Gpd1l	G	A	9: 114,743,399 (GRCm39)	T167I	probably damaging	Het
Hsph1	T	A	5: 149,546,950 (GRCm39)	K567*	probably null	Het
Igfn1	T	G	1: 135,897,126 (GRCm39)	S1147R	probably benign	Het
Itgb4	T	C	11: 115,874,590 (GRCm39)	V406A	probably benign	Het
Kcna2	A	G	3: 107,012,429 (GRCm39)	I337V	possibly damaging	Het
Kcnab1	T	C	3: 65,209,615 (GRCm39)		probably null	Het
Kri1	G	T	9: 21,191,788 (GRCm39)		probably benign	Het
Lrguk	T	A	6: 34,110,322 (GRCm39)	I801K	possibly damaging	Het
Magi2	A	T	5: 20,807,458 (GRCm39)	N871Y	probably damaging	Het
Map3k10	G	T	7: 27,360,981 (GRCm39)		probably null	Het
Mrps25	T	C	6: 92,155,721 (GRCm39)	T71A	probably damaging	Het
Myo15a	G	A	11: 60,390,321 (GRCm39)	W945*	probably null	Het
Ncan	A	T	8: 70,555,104 (GRCm39)	I1021N	probably damaging	Het
Ncf4	C	A	15: 78,134,582 (GRCm39)	S11R	probably benign	Het
Neb	A	C	2: 52,086,307 (GRCm39)	S5255R	possibly damaging	Het
Nop2	TGATGAAGATGAAGATGA	TGATGAAGATGA	6: 125,114,042 (GRCm39)		probably benign	Het
Or4c102	G	A	2: 88,422,516 (GRCm39)	A123T	probably damaging	Het
Or5ak22	A	T	2: 85,230,785 (GRCm39)	F31I	probably damaging	Het
Or5d16	T	C	2: 87,773,065 (GRCm39)		probably null	Het
Pacs1	T	C	19: 5,203,742 (GRCm39)	I328V	probably damaging	Het
Pan2	A	G	10: 128,140,247 (GRCm39)	H56R	possibly damaging	Het
Pigo	G	A	4: 43,024,710 (GRCm39)	R124*	probably null	Het
Ppfia2	A	G	10: 106,763,571 (GRCm39)	D1188G	probably benign	Het
Ppp1r16b	A	G	2: 158,603,355 (GRCm39)	N327D	probably damaging	Het
Psd3	A	G	8: 68,172,656 (GRCm39)	C223R	possibly damaging	Het
Rad50	A	G	11: 53,592,934 (GRCm39)	V72A	possibly damaging	Het
Rcor3	T	A	1: 191,785,133 (GRCm39)	D445V	possibly damaging	Het
Rundc1	T	A	11: 101,324,507 (GRCm39)	H404Q	probably benign	Het
Ryr1	T	C	7: 28,779,236 (GRCm39)	K2083E	probably benign	Het
Scd3	C	A	19: 44,224,281 (GRCm39)	H171Q	probably damaging	Het
Scrn2	T	C	11: 96,923,021 (GRCm39)	F155L	probably benign	Het
Serpina12	A	T	12: 103,998,769 (GRCm39)	L323Q	probably damaging	Het
Sptlc3	T	A	2: 139,467,843 (GRCm39)	M467K	probably benign	Het
Stard9	G	T	2: 120,528,970 (GRCm39)	R1742S	possibly damaging	Het
Thbd	A	T	2: 148,249,604 (GRCm39)	L88*	probably null	Het
Tln2	G	A	9: 67,269,969 (GRCm39)	Q477*	probably null	Het
Tnn	T	A	1: 159,943,752 (GRCm39)	E1020D	possibly damaging	Het
Trip12	A	T	1: 84,726,990 (GRCm39)	H3Q	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmp1	G	A	11: 86,534,413 (GRCm39)	Q165*	probably null	Het
Zfp758	T	A	17: 22,594,204 (GRCm39)	M230K	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
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
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'- TGCCTCCCACTAGCTCAAATG -3'
(R):5'- CAATCAGCCAGTGATCTGAGG -3'

Sequencing Primer
(F):5'- TAGACCCAGCTGTCCCGAC -3'
(R):5'- CTGAGGTGCGTTTAAGATCAACAACC -3'

Posted On

2014-06-23