Mutagenetix > Incidental Mutation

Incidental Mutation 'R1667:Pla2g4d'

187261

Institutional Source

Beutler Lab

Gene Symbol

Pla2g4d

Ensembl Gene

ENSMUSG00000070719

Gene Name

phospholipase A2, group IVD

Synonyms

Pla2delta, 2610311B01Rik

MMRRC Submission

039703-MU

Accession Numbers

Essential gene?

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

Stock #

R1667 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120265595-120289197 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 120270150 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 benign
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: 96.5%
20x: 93.0%

Validation Efficiency

99% (76/77)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	G	A	7: 139,845,648	A26T	possibly damaging	Het
Adgrg3	T	A	8: 95,033,373	Y73*	probably null	Het
Alk	A	T	17: 71,911,567	V761E	probably damaging	Het
Ankrd13a	T	C	5: 114,786,733	V93A	possibly damaging	Het
Anks1b	T	C	10: 90,511,184		probably null	Het
Ascl1	T	C	10: 87,492,793	N99S	probably benign	Het
Atm	A	T	9: 53,500,932	L972Q	probably damaging	Het
Atp2c1	A	T	9: 105,432,797	L566Q	probably null	Het
Bank1	T	A	3: 136,093,296	Y629F	probably damaging	Het
Bod1l	G	T	5: 41,816,775	L2399I	probably benign	Het
Bub1b	G	A	2: 118,641,189	G1010D	probably benign	Het
Ces1b	G	A	8: 93,056,904	H563Y	possibly damaging	Het
Cfap70	T	C	14: 20,404,157	E853G	probably benign	Het
Cfh	T	C	1: 140,105,523	E779G	probably benign	Het
Cox7c	A	G	13: 86,045,884	S7P	probably benign	Het
Cyp2c67	A	G	19: 39,643,590		probably null	Het
Dhx30	G	T	9: 110,085,445	L995I	possibly damaging	Het
Dhx30	G	C	9: 110,085,446	N957K	possibly damaging	Het
Dsc3	T	C	18: 19,991,560	T36A	possibly damaging	Het
Dstyk	A	G	1: 132,456,919	D717G	probably damaging	Het
Dusp10	A	G	1: 184,036,858	D7G	probably damaging	Het
E230001N04Rik	T	G	17: 28,523,961		noncoding transcript	Het
Ece2	T	C	16: 20,637,838	S330P	possibly damaging	Het
Fam172a	T	A	13: 77,759,516	M1K	probably null	Het
Frmd5	ATAGTGGAATTGTTCAAACTC	ATAGTGGAATTGTTCAAACTCTAGTGGAATTGTTCAAACTC	2: 121,548,730		probably null	Het
Gata3	T	C	2: 9,877,549	H14R	possibly damaging	Het
Ggta1	T	A	2: 35,414,283	I75F	possibly damaging	Het
Hcn1	A	T	13: 117,603,073	I124F	unknown	Het
Herpud1	A	C	8: 94,389,366	D53A	probably damaging	Het
Inhba	T	A	13: 16,026,624	L257Q	possibly damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Jmy	T	A	13: 93,498,370	S313C	probably damaging	Het
Lpo	G	A	11: 87,807,241		probably benign	Het
Lsg1	T	C	16: 30,571,352	E315G	probably damaging	Het
Lsm14a	T	A	7: 34,365,654	T167S	possibly damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Map3k2	T	C	18: 32,203,792		probably benign	Het
Mapk12	A	T	15: 89,140,141	M81K	probably damaging	Het
Matn2	T	A	15: 34,378,732	C305S	probably damaging	Het
Mgam	T	C	6: 40,677,044	Y844H	possibly damaging	Het
Mgat5b	A	G	11: 116,947,377	R281G	probably benign	Het
Mon1b	T	G	8: 113,641,957	C497G	probably damaging	Het
Mybbp1a	A	T	11: 72,445,217	H452L	probably benign	Het
Mybl2	A	G	2: 163,075,696	T41A	probably damaging	Het
Ncoa5	A	G	2: 165,001,703	V540A	probably damaging	Het
Nup93	T	A	8: 94,292,687	V47E	possibly damaging	Het
Olfr1052	A	G	2: 86,298,736	M307V	probably null	Het
Olfr17	A	T	7: 107,097,770	M102L	probably benign	Het
Orc6	T	A	8: 85,305,285	C100S	possibly damaging	Het
Otogl	G	T	10: 107,813,965	Y1176*	probably null	Het
Patj	A	T	4: 98,413,027	D183V	probably damaging	Het
Pik3r3	A	G	4: 116,222,317	T4A	probably damaging	Het
Pla2r1	A	G	2: 60,420,257	I1407T	probably benign	Het
Pramef12	A	T	4: 144,393,036	C320*	probably null	Het
Prex2	A	T	1: 11,186,757	H1231L	probably benign	Het
Prkca	A	G	11: 107,983,946	V390A	probably damaging	Het
Psmd13	T	A	7: 140,890,609	W255R	probably damaging	Het
Rec8	T	A	14: 55,618,796	N37K	probably damaging	Het
Rnf207	C	T	4: 152,313,215	E361K	probably benign	Het
Serpina3f	T	A	12: 104,217,440	L187Q	probably damaging	Het
Skint11	A	T	4: 114,194,781	T109S	probably damaging	Het
Slc7a8	A	G	14: 54,724,849	S443P	probably damaging	Het
Slc8b1	T	A	5: 120,521,082	F197Y	probably benign	Het
Sox2	T	C	3: 34,650,419	Y2H	probably damaging	Het
Speg	T	A	1: 75,410,549		probably benign	Het
Tlr3	T	C	8: 45,400,837	N149D	probably benign	Het
Trim60	A	C	8: 65,001,464	D44E	probably benign	Het
Ugt1a7c	A	G	1: 88,095,935	Y272C	probably damaging	Het
Vmn1r4	T	A	6: 56,956,753	Y81N	probably damaging	Het
Vmn2r73	A	T	7: 85,857,681	C808S	probably benign	Het
Ythdf3	T	C	3: 16,204,892	I412T	possibly damaging	Het
Zfp672	T	C	11: 58,316,095	T467A	possibly damaging	Het
Zfp985	A	T	4: 147,583,950	Q425L	possibly damaging	Het

Other mutations in Pla2g4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Pla2g4d	APN	2	120281726	missense	probably damaging	1.00
IGL01405:Pla2g4d	APN	2	120266823	missense	probably benign	0.01
IGL01642:Pla2g4d	APN	2	120280636	missense	probably damaging	1.00
IGL01657:Pla2g4d	APN	2	120275287	missense	possibly damaging	0.91
BB001:Pla2g4d	UTSW	2	120289164	start gained	probably benign
R0962:Pla2g4d	UTSW	2	120280617	critical splice donor site	probably null
R1564:Pla2g4d	UTSW	2	120268903	missense	possibly damaging	0.76
R1576:Pla2g4d	UTSW	2	120284167	missense	probably damaging	1.00
R1680:Pla2g4d	UTSW	2	120277750	critical splice donor site	probably null
R1712:Pla2g4d	UTSW	2	120277490	missense	possibly damaging	0.51
R2253:Pla2g4d	UTSW	2	120271141	missense	probably damaging	0.99
R2919:Pla2g4d	UTSW	2	120281627	splice site	probably benign
R3122:Pla2g4d	UTSW	2	120278903	missense	probably benign	0.03
R4420:Pla2g4d	UTSW	2	120284163	missense	probably benign
R4737:Pla2g4d	UTSW	2	120266790	missense	probably benign	0.00
R4829:Pla2g4d	UTSW	2	120266743	missense	probably damaging	1.00
R5032:Pla2g4d	UTSW	2	120281695	nonsense	probably null
R5530:Pla2g4d	UTSW	2	120269555	missense	probably benign	0.06
R5677:Pla2g4d	UTSW	2	120278948	missense	possibly damaging	0.87
R6087:Pla2g4d	UTSW	2	120270006	missense	probably damaging	1.00
R6088:Pla2g4d	UTSW	2	120270006	missense	probably damaging	1.00
R6150:Pla2g4d	UTSW	2	120269564	missense	probably damaging	1.00
R6930:Pla2g4d	UTSW	2	120270633	missense	probably damaging	1.00
R7240:Pla2g4d	UTSW	2	120270349	missense	probably damaging	1.00
R7284:Pla2g4d	UTSW	2	120284136	missense	probably damaging	1.00
R7339:Pla2g4d	UTSW	2	120278978	missense	probably benign
R7552:Pla2g4d	UTSW	2	120284139	missense	possibly damaging	0.56
R7607:Pla2g4d	UTSW	2	120288976	missense	probably benign
R7692:Pla2g4d	UTSW	2	120279295	missense	possibly damaging	0.84
R7860:Pla2g4d	UTSW	2	120266730	missense	probably benign	0.13
R7924:Pla2g4d	UTSW	2	120289164	start gained	probably benign
R7972:Pla2g4d	UTSW	2	120278932	missense	probably benign	0.04
R8373:Pla2g4d	UTSW	2	120277499	missense	probably null	1.00
R8737:Pla2g4d	UTSW	2	120269985	missense	probably damaging	1.00
R8752:Pla2g4d	UTSW	2	120268767	critical splice donor site	probably null
R8987:Pla2g4d	UTSW	2	120269961	missense	probably damaging	1.00
R9221:Pla2g4d	UTSW	2	120269972	missense	possibly damaging	0.76
R9251:Pla2g4d	UTSW	2	120268897	missense	possibly damaging	0.87
R9740:Pla2g4d	UTSW	2	120277471	missense	probably damaging	1.00
X0026:Pla2g4d	UTSW	2	120277471	missense	probably damaging	0.99
X0028:Pla2g4d	UTSW	2	120281726	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCATAGGTAACGGCAACTCTCCTC -3'
(R):5'- TGGAGCAACCTTTTCTCTGTGAACC -3'

Sequencing Primer
(F):5'- AACCAGGAGTCCGGTTGTG -3'
(R):5'- AACCTTTTCTCTGTGAACCTGATG -3'

Posted On

2014-05-09