Mutagenetix > Incidental Mutation

Incidental Mutation 'R5100:Pla2g7'

388241

Institutional Source

Beutler Lab

Gene Symbol

Pla2g7

Ensembl Gene

ENSMUSG00000023913

Gene Name

phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)

Synonyms

PAF-AH, PAF acetylhydrolase

MMRRC Submission

042689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5100 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43878989-43923092 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43922267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 382 (L382P)

Ref Sequence

ENSEMBL: ENSMUSP00000024706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024706] [ENSMUST00000045717] [ENSMUST00000168073] [ENSMUST00000169694]

AlphaFold

Q60963

Predicted Effect

probably damaging
Transcript: ENSMUST00000024706
AA Change: L382P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024706
Gene: ENSMUSG00000023913
AA Change: L382P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:PAF-AH_p_II	47	415	6e-179	PFAM
Pfam:Abhydrolase_5	145	351	3.2e-18	PFAM
Pfam:Abhydrolase_1	215	318	2.8e-7	PFAM
Pfam:Peptidase_S9	247	356	2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045717

SMART Domains

Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140

Domain	Start	End	E-Value	Type
Pfam:TUDOR	14	133	9.9e-9	PFAM
low complexity region	166	187	N/A	INTRINSIC
TUDOR	308	366	1.14e-2	SMART
low complexity region	452	463	N/A	INTRINSIC
TUDOR	541	597	2.68e-8	SMART
TUDOR	817	877	2.56e-5	SMART
TUDOR	1037	1090	5.36e-8	SMART
TUDOR	1357	1415	2.19e-13	SMART
TUDOR	1569	1628	3.1e-13	SMART
low complexity region	1826	1842	N/A	INTRINSIC
low complexity region	1866	1876	N/A	INTRINSIC
TUDOR	2026	2083	9.45e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162232

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163489

Predicted Effect

probably benign
Transcript: ENSMUST00000168073

SMART Domains

Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140

Domain	Start	End	E-Value	Type
Pfam:TUDOR	12	133	7.2e-9	PFAM
low complexity region	166	187	N/A	INTRINSIC
TUDOR	308	366	1.14e-2	SMART
low complexity region	452	463	N/A	INTRINSIC
TUDOR	541	597	2.68e-8	SMART
TUDOR	817	877	2.56e-5	SMART
TUDOR	1037	1090	5.36e-8	SMART
TUDOR	1357	1415	2.19e-13	SMART
TUDOR	1569	1628	3.1e-13	SMART
low complexity region	1826	1842	N/A	INTRINSIC
low complexity region	1866	1876	N/A	INTRINSIC
TUDOR	2027	2084	9.45e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169694

SMART Domains

Protein: ENSMUSP00000132027
Gene: ENSMUSG00000023913

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:PAF-AH_p_II	47	298	6.1e-120	PFAM
Pfam:Abhydrolase_5	145	298	1.4e-15	PFAM
Pfam:Abhydrolase_6	146	298	4.5e-11	PFAM
Pfam:Peptidase_S9	246	298	4.1e-8	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced early mortality in response to bacterial exposure, formula feeding and asphyxia, but survivors show a significantly higher incidence of necrotizing enterocolitis relative to wild-type controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,057,477 (GRCm39)	M774K	probably damaging	Het
Adamts3	G	A	5: 89,856,502 (GRCm39)	T357I	probably damaging	Het
Ap3m2	T	A	8: 23,279,404 (GRCm39)	M408L	probably benign	Het
Apaf1	A	T	10: 90,833,149 (GRCm39)	N1116K	probably benign	Het
Arhgap31	A	T	16: 38,421,821 (GRCm39)	I1415N	probably damaging	Het
Arhgef17	A	T	7: 100,530,963 (GRCm39)	D1374E	possibly damaging	Het
Asxl1	C	G	2: 153,239,851 (GRCm39)	N546K	probably damaging	Het
Cobll1	T	A	2: 64,956,245 (GRCm39)	T337S	probably benign	Het
Depdc1a	A	T	3: 159,221,157 (GRCm39)	I163L	probably benign	Het
Flrt3	T	A	2: 140,513,304 (GRCm39)		probably null	Het
Foxn4	A	T	5: 114,394,820 (GRCm39)	L369H	possibly damaging	Het
Gm11992	T	C	11: 9,011,290 (GRCm39)	S244P	probably damaging	Het
Gm14412	C	T	2: 177,006,908 (GRCm39)	C329Y	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm5113	G	A	7: 29,878,076 (GRCm39)	V55M	probably damaging	Het
Grhl3	A	G	4: 135,269,986 (GRCm39)	I599T	probably benign	Het
H2-Q6	G	C	17: 35,644,296 (GRCm39)	E93Q	probably benign	Het
Hk3	T	C	13: 55,156,843 (GRCm39)	T570A	probably damaging	Het
Hspb8	T	C	5: 116,553,468 (GRCm39)	I143M	probably damaging	Het
Kif15	A	G	9: 122,821,059 (GRCm39)	T655A	probably damaging	Het
Lpin2	G	A	17: 71,550,965 (GRCm39)	W708*	probably null	Het
Lrit1	T	A	14: 36,784,171 (GRCm39)	C500S	possibly damaging	Het
Macf1	A	C	4: 123,368,261 (GRCm39)	C602G	probably benign	Het
Mesd	C	T	7: 83,546,977 (GRCm39)	R147C	probably damaging	Het
Mfge8	A	T	7: 78,793,048 (GRCm39)	D139E	probably benign	Het
Ncoa3	G	A	2: 165,892,017 (GRCm39)	R131Q	probably damaging	Het
Ncoa5	A	G	2: 164,851,309 (GRCm39)	I188T	probably damaging	Het
Ngp	T	C	9: 110,249,069 (GRCm39)	L47P	probably damaging	Het
Nhlrc1	T	C	13: 47,167,897 (GRCm39)	H120R	probably benign	Het
Otos	T	A	1: 92,572,107 (GRCm39)	H73L	probably damaging	Het
Pcsk5	C	T	19: 17,492,499 (GRCm39)		probably null	Het
Phc3	T	C	3: 30,976,348 (GRCm39)	E740G	possibly damaging	Het
Plcd3	C	A	11: 102,969,175 (GRCm39)	R264L	probably benign	Het
Pms2	A	G	5: 143,865,006 (GRCm39)	D696G	probably damaging	Het
Ptchd4	A	T	17: 42,814,567 (GRCm39)	I823F	possibly damaging	Het
Scn9a	T	C	2: 66,364,463 (GRCm39)	R828G	probably damaging	Het
Spred2	T	A	11: 19,971,291 (GRCm39)	C386*	probably null	Het
Terb1	A	T	8: 105,221,805 (GRCm39)	L165*	probably null	Het
Tgm2	A	T	2: 157,969,084 (GRCm39)	S430R	probably benign	Het
Tnxb	A	T	17: 34,929,902 (GRCm39)	I2879F	probably damaging	Het
Trpm3	T	G	19: 22,896,130 (GRCm39)	V977G	probably damaging	Het
Wnt5b	A	C	6: 119,417,449 (GRCm39)	S139A	probably benign	Het
Zfp820	C	A	17: 22,040,054 (GRCm39)	V52L	possibly damaging	Het
Zfyve26	T	A	12: 79,326,832 (GRCm39)	R764*	probably null	Het

Other mutations in Pla2g7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Pla2g7	APN	17	43,913,762 (GRCm39)	missense	probably damaging	1.00
R0026:Pla2g7	UTSW	17	43,905,821 (GRCm39)	splice site	probably benign
R0421:Pla2g7	UTSW	17	43,922,303 (GRCm39)	missense	probably damaging	0.96
R1701:Pla2g7	UTSW	17	43,911,415 (GRCm39)	missense	probably damaging	1.00
R4591:Pla2g7	UTSW	17	43,911,450 (GRCm39)	missense	probably damaging	0.98
R5713:Pla2g7	UTSW	17	43,905,183 (GRCm39)	missense	probably benign	0.03
R6404:Pla2g7	UTSW	17	43,905,688 (GRCm39)	missense	probably damaging	1.00
R6433:Pla2g7	UTSW	17	43,910,017 (GRCm39)	missense	probably damaging	1.00
R7180:Pla2g7	UTSW	17	43,909,967 (GRCm39)	missense	probably damaging	1.00
R7903:Pla2g7	UTSW	17	43,911,512 (GRCm39)	splice site	probably null
R7998:Pla2g7	UTSW	17	43,922,209 (GRCm39)	missense	probably benign	0.01
Z1176:Pla2g7	UTSW	17	43,913,810 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAGCTTTGACCCTCAGCTAC -3'
(R):5'- TTAATGCAAGGCCACATACTCC -3'

Sequencing Primer
(F):5'- TGACCCTCAGCTACATTAAAATGATC -3'
(R):5'- GGCCACATACTCCTCTTTTTGAAATG -3'

Posted On

2016-06-06