Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:Pla2g4d'

188390

Institutional Source

Beutler Lab

Gene Symbol

Pla2g4d

Ensembl Gene

ENSMUSG00000070719

Gene Name

phospholipase A2, group IVD

Synonyms

Pla2delta, 2610311B01Rik

MMRRC Submission

039716-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120265595-120289197 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 120277750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094665]

AlphaFold

Q50L43

Predicted Effect

probably null
Transcript: ENSMUST00000094665

SMART Domains

Protein: ENSMUSP00000092252
Gene: ENSMUSG00000070719

Domain	Start	End	E-Value	Type
C2	32	132	1.12e-18	SMART
PLAc	263	766	3.36e-11	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The phospholipase A2 enzyme family, including PLA2G4D, catalyze the hydrolysis of glycerophospholipids at the sn-2 position and then liberate free fatty acids and lysophospholipids (Chiba et al., 2004 [PubMed 14709560]).[supplied by OMIM, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528	P187R	probably damaging	Het
Ahnak	T	A	19: 9,009,963	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,347,651	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,278,954	D827V	probably damaging	Het
Bcat1	T	G	6: 145,039,628	D96A	probably damaging	Het
Birc6	A	T	17: 74,548,746	I184L	probably benign	Het
Ccdc129	C	T	6: 55,968,766	T824I	probably damaging	Het
Clca3b	A	T	3: 144,837,824	L415M	probably damaging	Het
Clstn1	T	C	4: 149,643,726	V617A	probably benign	Het
Col22a1	G	A	15: 71,799,361	A1050V	unknown	Het
Col5a3	C	T	9: 20,784,668		probably null	Het
Csmd3	G	A	15: 47,741,170	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dnm3	A	G	1: 162,010,976	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,873,361	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,190,103	Y710H	probably benign	Het
Eef1a2	A	T	2: 181,152,941	M155K	possibly damaging	Het
Entpd8	G	A	2: 25,084,024	C331Y	probably damaging	Het
Erc1	A	C	6: 119,575,761	L1072R	probably damaging	Het
Fam160b2	T	C	14: 70,586,851	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,173,868	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,722,493	S617P	probably damaging	Het
Ice1	T	C	13: 70,605,448	R840G	probably benign	Het
Il1rl2	T	C	1: 40,351,793	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,621,162		probably null	Het
Ireb2	C	T	9: 54,881,518	T92I	probably damaging	Het
Kcnj8	A	T	6: 142,570,189	L64*	probably null	Het
Mapk8ip3	A	G	17: 24,901,011	V983A	probably damaging	Het
Mertk	A	G	2: 128,801,636	D985G	probably benign	Het
Mical3	A	T	6: 120,959,643	S1307R	probably benign	Het
Ncaph2	A	G	15: 89,364,622	D222G	probably benign	Het
Nf1	C	A	11: 79,550,998	S295*	probably null	Het
Nlrp12	T	A	7: 3,241,174	D236V	probably damaging	Het
Npnt	A	G	3: 132,906,802	V74A	probably benign	Het
Oasl1	A	G	5: 114,935,944	D304G	probably damaging	Het
Olfr1098	C	T	2: 86,923,161	V124I	probably benign	Het
Olfr556	A	G	7: 102,670,733	D271G	possibly damaging	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Olfr936	T	C	9: 39,047,000	I140V	probably benign	Het
Patz1	A	G	11: 3,307,812	K604E	probably damaging	Het
Pcsk6	T	A	7: 66,035,250	V793E	probably benign	Het
Plxnc1	A	C	10: 94,841,551	L938R	probably benign	Het
Pou4f2	G	T	8: 78,434,831	A381D	probably damaging	Het
Prdm4	A	G	10: 85,899,223	L685P	possibly damaging	Het
Pxn	T	A	5: 115,552,147	V383E	probably damaging	Het
Rbl1	A	G	2: 157,174,783	L632P	probably damaging	Het
Rnf135	T	A	11: 80,196,881	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,791,436	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Slc5a6	A	G	5: 31,042,644	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,418,080	I492T	probably damaging	Het
Soga3	A	T	10: 29,196,839	Q709L	probably damaging	Het
Spag5	A	G	11: 78,320,616	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,159,371	I75L	possibly damaging	Het
Syngap1	T	C	17: 26,952,579	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,605	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840	V102A	probably benign	Het
Tomm70a	T	C	16: 57,121,961	S34P	unknown	Het
Txlnb	G	T	10: 17,843,233	G604V	probably benign	Het
Ube2q1	A	G	3: 89,776,176	T143A	probably benign	Het
Unc80	C	T	1: 66,503,669	R361*	probably null	Het
Vcan	T	C	13: 89,703,547	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,835,381	T116S	probably damaging	Het
Wdr81	C	T	11: 75,454,423	R6K	probably benign	Het
Zan	T	A	5: 137,403,050	T4136S	unknown	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp606	A	T	7: 12,493,971	H615L	probably damaging	Het
Zp3r	A	T	1: 130,582,880	N433K	probably benign	Het

Other mutations in Pla2g4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Pla2g4d	APN	2	120,281,726 (GRCm38)	missense	probably damaging	1.00
IGL01405:Pla2g4d	APN	2	120,266,823 (GRCm38)	missense	probably benign	0.01
IGL01642:Pla2g4d	APN	2	120,280,636 (GRCm38)	missense	probably damaging	1.00
IGL01657:Pla2g4d	APN	2	120,275,287 (GRCm38)	missense	possibly damaging	0.91
BB001:Pla2g4d	UTSW	2	120,289,164 (GRCm38)	start gained	probably benign
R0962:Pla2g4d	UTSW	2	120,280,617 (GRCm38)	critical splice donor site	probably null
R1564:Pla2g4d	UTSW	2	120,268,903 (GRCm38)	missense	possibly damaging	0.76
R1576:Pla2g4d	UTSW	2	120,284,167 (GRCm38)	missense	probably damaging	1.00
R1667:Pla2g4d	UTSW	2	120,270,150 (GRCm38)	splice site	probably benign
R1712:Pla2g4d	UTSW	2	120,277,490 (GRCm38)	missense	possibly damaging	0.51
R2253:Pla2g4d	UTSW	2	120,271,141 (GRCm38)	missense	probably damaging	0.99
R2919:Pla2g4d	UTSW	2	120,281,627 (GRCm38)	splice site	probably benign
R3122:Pla2g4d	UTSW	2	120,278,903 (GRCm38)	missense	probably benign	0.03
R4420:Pla2g4d	UTSW	2	120,284,163 (GRCm38)	missense	probably benign
R4737:Pla2g4d	UTSW	2	120,266,790 (GRCm38)	missense	probably benign	0.00
R4829:Pla2g4d	UTSW	2	120,266,743 (GRCm38)	missense	probably damaging	1.00
R5032:Pla2g4d	UTSW	2	120,281,695 (GRCm38)	nonsense	probably null
R5530:Pla2g4d	UTSW	2	120,269,555 (GRCm38)	missense	probably benign	0.06
R5677:Pla2g4d	UTSW	2	120,278,948 (GRCm38)	missense	possibly damaging	0.87
R6087:Pla2g4d	UTSW	2	120,270,006 (GRCm38)	missense	probably damaging	1.00
R6088:Pla2g4d	UTSW	2	120,270,006 (GRCm38)	missense	probably damaging	1.00
R6150:Pla2g4d	UTSW	2	120,269,564 (GRCm38)	missense	probably damaging	1.00
R6930:Pla2g4d	UTSW	2	120,270,633 (GRCm38)	missense	probably damaging	1.00
R7240:Pla2g4d	UTSW	2	120,270,349 (GRCm38)	missense	probably damaging	1.00
R7284:Pla2g4d	UTSW	2	120,284,136 (GRCm38)	missense	probably damaging	1.00
R7339:Pla2g4d	UTSW	2	120,278,978 (GRCm38)	missense	probably benign
R7552:Pla2g4d	UTSW	2	120,284,139 (GRCm38)	missense	possibly damaging	0.56
R7607:Pla2g4d	UTSW	2	120,288,976 (GRCm38)	missense	probably benign
R7692:Pla2g4d	UTSW	2	120,279,295 (GRCm38)	missense	possibly damaging	0.84
R7860:Pla2g4d	UTSW	2	120,266,730 (GRCm38)	missense	probably benign	0.13
R7924:Pla2g4d	UTSW	2	120,289,164 (GRCm38)	start gained	probably benign
R7972:Pla2g4d	UTSW	2	120,278,932 (GRCm38)	missense	probably benign	0.04
R8373:Pla2g4d	UTSW	2	120,277,499 (GRCm38)	missense	probably null	1.00
R8737:Pla2g4d	UTSW	2	120,269,985 (GRCm38)	missense	probably damaging	1.00
R8752:Pla2g4d	UTSW	2	120,268,767 (GRCm38)	critical splice donor site	probably null
R8987:Pla2g4d	UTSW	2	120,269,961 (GRCm38)	missense	probably damaging	1.00
R9221:Pla2g4d	UTSW	2	120,269,972 (GRCm38)	missense	possibly damaging	0.76
R9251:Pla2g4d	UTSW	2	120,268,897 (GRCm38)	missense	possibly damaging	0.87
R9740:Pla2g4d	UTSW	2	120,277,471 (GRCm38)	missense	probably damaging	1.00
X0026:Pla2g4d	UTSW	2	120,277,471 (GRCm38)	missense	probably damaging	0.99
X0028:Pla2g4d	UTSW	2	120,281,726 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGCCTCACAGACAGCTCTTTGG -3'
(R):5'- GGTGACACCTTTCAATGTACCCCTG -3'

Sequencing Primer
(F):5'- AGCTCTTTGGGGCTGGAATG -3'
(R):5'- GGAGATGACCATAGACATTCCTGC -3'

Posted On

2014-05-09