Mutagenetix > Incidental Mutation

Incidental Mutation 'R1846:Pafah2'

207712

Institutional Source

Beutler Lab

Gene Symbol

Pafah2

Ensembl Gene

ENSMUSG00000037366

Gene Name

platelet-activating factor acetylhydrolase 2

Synonyms

2310074E22Rik

MMRRC Submission

039871-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1846 (G1)

Quality Score

107

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

99% (75/76)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	A	7: 12,246,809 (GRCm39)	R63Q	probably benign	Het
Adamts20	A	T	15: 94,243,871 (GRCm39)	C619S	probably damaging	Het
Alx1	T	C	10: 102,861,165 (GRCm39)	D121G	possibly damaging	Het
Anks3	A	C	16: 4,771,748 (GRCm39)	M215R	probably benign	Het
Anxa4	T	A	6: 86,718,893 (GRCm39)		probably null	Het
Arhgef25	A	G	10: 127,021,733 (GRCm39)	V222A	probably damaging	Het
Bglap2	A	G	3: 88,285,932 (GRCm39)		probably benign	Het
Cars2	A	G	8: 11,564,674 (GRCm39)	V22A	probably benign	Het
Ccdc198	G	T	14: 49,473,420 (GRCm39)	L102I	probably damaging	Het
Cenpe	T	A	3: 134,945,606 (GRCm39)	I1040N	probably damaging	Het
Cep170	C	T	1: 176,583,335 (GRCm39)	D1015N	probably damaging	Het
Chia1	T	A	3: 106,038,181 (GRCm39)	I359N	probably damaging	Het
Crot	A	T	5: 9,038,248 (GRCm39)	V93E	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnmbp	T	C	19: 43,891,186 (GRCm39)	I194V	probably damaging	Het
Dock4	T	A	12: 40,783,267 (GRCm39)	C734S	probably benign	Het
Eif4e3	T	C	6: 99,617,662 (GRCm39)	S70G	probably benign	Het
Entpd3	G	A	9: 120,387,441 (GRCm39)	D213N	probably benign	Het
Ern2	T	G	7: 121,775,759 (GRCm39)	Y445S	probably benign	Het
Fasn	A	G	11: 120,704,133 (GRCm39)	S1429P	probably benign	Het
Fat4	A	G	3: 39,036,532 (GRCm39)	I3395V	probably benign	Het
Fbln2	C	A	6: 91,233,399 (GRCm39)	Q628K	possibly damaging	Het
Fbxo28	T	C	1: 182,153,845 (GRCm39)	N164D	probably benign	Het
Fez1	T	C	9: 36,779,063 (GRCm39)	S247P	probably damaging	Het
Gars1	A	G	6: 55,040,153 (GRCm39)	D360G	probably benign	Het
Gcfc2	A	T	6: 81,933,873 (GRCm39)	Q710L	probably damaging	Het
Ggt5	A	G	10: 75,446,376 (GRCm39)		probably null	Het
Glp1r	A	G	17: 31,148,909 (GRCm39)		probably null	Het
Hspa14	T	C	2: 3,492,697 (GRCm39)	D356G	possibly damaging	Het
Htt	T	A	5: 35,006,288 (GRCm39)	I1399N	probably damaging	Het
Kmt2e	G	A	5: 23,704,484 (GRCm39)		probably benign	Het
Krt36	C	A	11: 99,996,374 (GRCm39)	G17C	probably damaging	Het
Lama2	T	C	10: 27,088,092 (GRCm39)	E895G	probably damaging	Het
Lamb2	G	A	9: 108,364,586 (GRCm39)	R1142H	probably benign	Het
Lhcgr	C	T	17: 89,072,575 (GRCm39)		probably null	Het
Lpin2	A	G	17: 71,532,064 (GRCm39)	T140A	probably benign	Het
Metap1	A	G	3: 138,186,443 (GRCm39)		probably benign	Het
Mpeg1	T	C	19: 12,440,486 (GRCm39)	V648A	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Muc4	T	A	16: 32,752,369 (GRCm38)	I749N	probably benign	Het
N4bp2	T	C	5: 65,965,862 (GRCm39)	F1304L	probably damaging	Het
Nup85	A	G	11: 115,459,239 (GRCm39)	E114G	probably benign	Het
Or2a5	A	G	6: 42,874,254 (GRCm39)	S290G	probably damaging	Het
Or4c10	A	G	2: 89,761,010 (GRCm39)	T286A	possibly damaging	Het
Or6b2b	A	T	1: 92,418,822 (GRCm39)	Y218*	probably null	Het
Parp2	T	A	14: 51,052,843 (GRCm39)	C145*	probably null	Het
Plpp6	T	C	19: 28,941,680 (GRCm39)	S94P	probably benign	Het
Polr1a	T	C	6: 71,953,172 (GRCm39)	I1580T	probably damaging	Het
Polrmt	A	T	10: 79,574,043 (GRCm39)	V860E	probably damaging	Het
Ppp1r17	A	G	6: 55,999,412 (GRCm39)	E15G	possibly damaging	Het
Prl7b1	A	T	13: 27,786,831 (GRCm39)	W133R	probably damaging	Het
Ptk7	A	G	17: 46,887,416 (GRCm39)		probably null	Het
Rad23b	C	T	4: 55,383,637 (GRCm39)	Q290*	probably null	Het
Rorb	C	T	19: 18,932,445 (GRCm39)	E369K	probably damaging	Het
Rusc1	T	C	3: 88,999,452 (GRCm39)	D110G	probably damaging	Het
Smg7	A	G	1: 152,724,601 (GRCm39)	S527P	probably damaging	Het
Ssbp2	C	T	13: 91,812,268 (GRCm39)	P105L	probably damaging	Het
Stt3a	C	T	9: 36,674,681 (GRCm39)	R34H	probably damaging	Het
Sufu	T	A	19: 46,439,386 (GRCm39)	I202N	possibly damaging	Het
Thsd7b	G	A	1: 129,540,993 (GRCm39)	R289Q	probably damaging	Het
Tph1	A	T	7: 46,309,863 (GRCm39)	S130T	probably damaging	Het
Ttn	A	G	2: 76,776,030 (GRCm39)	S1671P	probably damaging	Het
Usp4	A	G	9: 108,249,935 (GRCm39)	I441V	probably benign	Het
Vmn1r8	A	G	6: 57,013,413 (GRCm39)	N155D	probably benign	Het
Vmn2r115	A	C	17: 23,578,357 (GRCm39)	K610T	probably damaging	Het
Vmn2r62	G	A	7: 42,438,546 (GRCm39)	P97S	probably damaging	Het
Zbtb40	T	C	4: 136,735,150 (GRCm39)	D297G	probably benign	Het
Zfp174	C	A	16: 3,672,599 (GRCm39)	Q383K	probably benign	Het
Zfp318	T	A	17: 46,724,592 (GRCm39)	D2198E	probably benign	Het
Zfp628	C	T	7: 4,923,866 (GRCm39)	P696L	possibly damaging	Het
Zgrf1	T	A	3: 127,409,112 (GRCm39)	N1695K	probably damaging	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
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'- GCCTCCCACTAGCTCAAATG -3'
(R):5'- TCAGCCAGTGATCTGAGGTG -3'

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

Posted On

2014-06-23