Mutagenetix > Incidental Mutation

Incidental Mutation 'R7998:Pla2g7'

616228

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

046038-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43878989-43923092 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43922209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 363 (I363L)

Ref Sequence

ENSEMBL: ENSMUSP00000024706 (fasta)

Gene Model

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

AlphaFold

Q60963

Predicted Effect

probably benign
Transcript: ENSMUST00000024706
AA Change: I363L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000024706
Gene: ENSMUSG00000023913
AA Change: I363L

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,818,649 (GRCm39)	R216C	probably benign	Het
Acsl3	C	T	1: 78,671,988 (GRCm39)	P294L	probably damaging	Het
Alox12b	T	C	11: 69,059,663 (GRCm39)	Y572H	probably damaging	Het
Arid1b	A	G	17: 5,377,959 (GRCm39)	D1236G	probably damaging	Het
Astl	T	C	2: 127,192,419 (GRCm39)	L254P	probably damaging	Het
Btbd7	A	C	12: 102,761,499 (GRCm39)	L562R	probably damaging	Het
Chl1	T	C	6: 103,706,250 (GRCm39)	V1195A	probably benign	Het
Ciao2b	T	A	8: 105,367,668 (GRCm39)	S94C	probably damaging	Het
Cib1	A	T	7: 79,878,162 (GRCm39)	Y105*	probably null	Het
Cog3	G	T	14: 75,984,533 (GRCm39)	S94Y	possibly damaging	Het
Cpne6	A	C	14: 55,753,751 (GRCm39)	Q403P	probably damaging	Het
Csn1s1	A	G	5: 87,822,087 (GRCm39)	N119S	possibly damaging	Het
Cux2	T	C	5: 122,006,648 (GRCm39)	D874G	possibly damaging	Het
Dicer1	A	T	12: 104,670,328 (GRCm39)	F1079Y	probably damaging	Het
Dsc2	T	A	18: 20,167,720 (GRCm39)	Q724H	possibly damaging	Het
Fbxw16	A	G	9: 109,265,766 (GRCm39)	V351A	probably damaging	Het
G2e3	A	T	12: 51,400,624 (GRCm39)	E59D	probably benign	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm10837	G	T	14: 122,728,053 (GRCm39)		probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr18	T	C	14: 122,149,393 (GRCm39)	I211V	probably benign	Het
Gstm7	T	A	3: 107,837,657 (GRCm39)	D98V	probably damaging	Het
Hspa8	A	G	9: 40,715,810 (GRCm39)	Y525C	probably damaging	Het
Itga7	T	C	10: 128,770,020 (GRCm39)	S55P	probably damaging	Het
Itpr1	T	C	6: 108,394,909 (GRCm39)	V1674A	possibly damaging	Het
Itsn1	G	T	16: 91,647,824 (GRCm39)	G893C	unknown	Het
Kcnc1	A	G	7: 46,047,223 (GRCm39)	D41G	probably benign	Het
Larp6	A	G	9: 60,631,638 (GRCm39)	K137E	probably damaging	Het
Leo1	G	T	9: 75,352,558 (GRCm39)	G34C	probably benign	Het
Map4	G	A	9: 109,908,929 (GRCm39)	V1050M	probably damaging	Het
Mast3	A	G	8: 71,236,214 (GRCm39)	V722A	probably benign	Het
Med28	T	A	5: 45,682,541 (GRCm39)	V69D	probably damaging	Het
Mier1	T	C	4: 103,019,812 (GRCm39)	F512S	probably benign	Het
Mix23	T	A	16: 35,905,403 (GRCm39)	V65D	probably benign	Het
Mov10l1	T	A	15: 88,937,642 (GRCm39)	V1147E	probably damaging	Het
Mroh7	T	C	4: 106,568,478 (GRCm39)	E409G	probably benign	Het
Muc16	G	T	9: 18,551,188 (GRCm39)	P5035Q	probably benign	Het
Nemp1	C	A	10: 127,529,358 (GRCm39)	S213R	probably damaging	Het
Npffr2	T	C	5: 89,731,149 (GRCm39)	Y360H	probably damaging	Het
Nrxn2	T	C	19: 6,559,905 (GRCm39)	V1221A	probably damaging	Het
Nup107	A	G	10: 117,593,899 (GRCm39)	F765L	probably damaging	Het
Nup188	T	C	2: 30,220,983 (GRCm39)	L991P	probably damaging	Het
Or13f5	A	T	4: 52,825,970 (GRCm39)	D191V	possibly damaging	Het
Or5ac23	T	A	16: 59,149,633 (GRCm39)	M80L	probably benign	Het
Ppp2r1a	T	C	17: 21,181,901 (GRCm39)	F473S	possibly damaging	Het
Prex1	A	G	2: 166,428,965 (GRCm39)		probably null	Het
Ptov1	A	G	7: 44,514,353 (GRCm39)	V263A	probably damaging	Het
Reg3a	T	C	6: 78,358,132 (GRCm39)	V21A	probably benign	Het
Sdk2	T	A	11: 113,750,764 (GRCm39)	I550F	probably benign	Het
Shprh	T	A	10: 11,061,085 (GRCm39)	W1133R	probably damaging	Het
Slc28a2b	T	C	2: 122,324,839 (GRCm39)	L137P	probably damaging	Het
Syne2	T	C	12: 76,134,632 (GRCm39)	V1297A	probably damaging	Het
Themis2	A	G	4: 132,519,875 (GRCm39)	I50T	probably damaging	Het
Tmprss15	C	A	16: 78,798,731 (GRCm39)	L650F	possibly damaging	Het
Ttc41	C	A	10: 86,572,711 (GRCm39)	N694K	probably benign	Het
Ttll9	T	C	2: 152,833,546 (GRCm39)	Y215H	possibly damaging	Het
Ttn	C	A	2: 76,733,653 (GRCm39)	V4541L	unknown	Het
Usp32	G	T	11: 84,885,252 (GRCm39)	A1265E	probably damaging	Het
Vcan	T	A	13: 89,852,446 (GRCm39)	D838V	probably damaging	Het
Vmn2r88	T	C	14: 51,651,565 (GRCm39)	I293T		Het
Wdr36	T	G	18: 32,985,572 (GRCm39)	D496E	probably damaging	Het
Wrn	T	C	8: 33,782,671 (GRCm39)	N753S	probably benign	Het
Zmat3	T	C	3: 32,395,815 (GRCm39)	R231G	possibly damaging	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
R5100:Pla2g7	UTSW	17	43,922,267 (GRCm39)	missense	probably damaging	1.00
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
Z1176:Pla2g7	UTSW	17	43,913,810 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TACAGTTCAGCAAACTAGTGGGG -3'
(R):5'- AGCCAAGTGGAAACAGCTAC -3'

Sequencing Primer
(F):5'- GTGCAATCTGGAAATCAATCCTTCC -3'
(R):5'- GGAAACAGCTACAATAAGACTATGTC -3'

Posted On

2020-01-23