Mutagenetix > Incidental Mutations

Incidental Mutation 'R6088:Pla2g4d'

486072

Institutional Source

Beutler Lab

Gene Symbol

Pla2g4d

Ensembl Gene

ENSMUSG00000070719

Gene Name

phospholipase A2, group IVD

Synonyms

Pla2delta, 2610311B01Rik

MMRRC Submission

044245-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120265595-120289197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120270006 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 615 (G615D)

Ref Sequence

ENSEMBL: ENSMUSP00000092252 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000094665
AA Change: G615D

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

SMART Domains

Protein: ENSMUSP00000092252
Gene: ENSMUSG00000070719
AA Change: G615D

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

Meta Mutation Damage Score

0.5652

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	G	T	18: 58,902,102	V360F	probably damaging	Het
Ankrd17	C	T	5: 90,253,688	E1605K	possibly damaging	Het
Arid4a	A	G	12: 71,022,236	D54G	probably damaging	Het
Baz2a	TCTCCTC	TCTC	10: 128,114,642		probably benign	Het
Card6	A	T	15: 5,105,019	V234E	possibly damaging	Het
Cd1d1	G	T	3: 86,998,702	Q89K	probably benign	Het
Ciita	G	A	16: 10,511,931	R693K	probably damaging	Het
Cox7a2l	G	T	17: 83,503,972	L77I	probably benign	Het
Crybg2	A	T	4: 134,075,790		probably null	Het
Cts8	T	C	13: 61,253,966	N39S	probably benign	Het
Def8	G	T	8: 123,460,048	E456*	probably null	Het
Dld	A	G	12: 31,340,989	F153L	probably benign	Het
Elf1	C	T	14: 79,567,261	T122I	probably benign	Het
Emilin2	T	C	17: 71,255,124	N961S	probably benign	Het
Esp24	A	G	17: 39,040,010	I34V	probably benign	Het
Fam129b	T	C	2: 32,923,123	V540A	probably damaging	Het
Fam184b	C	A	5: 45,584,012	K292N	probably damaging	Het
Gabrg3	T	A	7: 56,985,078	N119I	probably damaging	Het
Gucy1b1	T	C	3: 82,034,880	H524R	probably damaging	Het
Kcp	A	T	6: 29,502,632	S205T	probably benign	Het
Klb	C	T	5: 65,349,013	T201M	probably benign	Het
Lamp3	A	T	16: 19,673,398	F365L	probably damaging	Het
Mad1l1	T	A	5: 140,193,963	H390L	probably benign	Het
Mlxipl	T	C	5: 135,134,030	Y711H	possibly damaging	Het
Myo5b	T	A	18: 74,720,898	L1196Q	possibly damaging	Het
Ndufb8	A	G	19: 44,555,025	S70P	probably benign	Het
Neb	T	C	2: 52,209,342	D4832G	probably damaging	Het
Nr5a1	T	C	2: 38,701,995	D322G	probably benign	Het
Olfr396-ps1	A	T	11: 73,928,823	T273S	probably benign	Het
Olfr988	T	A	2: 85,353,354	S191C	probably damaging	Het
Oscar	G	A	7: 3,611,312	P143S	probably benign	Het
Oxa1l	T	A	14: 54,367,694		probably null	Het
Pafah2	A	G	4: 134,413,381	I221V	probably benign	Het
Pibf1	T	A	14: 99,179,358	F456I	probably benign	Het
Plekhg2	C	T	7: 28,361,013	V964I	probably benign	Het
Ppip5k1	C	A	2: 121,337,463	V770L	probably benign	Het
Ppl	A	T	16: 5,104,988	L213Q	possibly damaging	Het
Ptprf	G	A	4: 118,210,755	T1785I	possibly damaging	Het
Pycr2	G	A	1: 180,906,236	G131E	probably damaging	Het
Rbpj	C	T	5: 53,651,368		probably null	Het
Rcc1	G	T	4: 132,332,842	D430E	probably benign	Het
Rhbdf1	A	G	11: 32,212,007	V525A	possibly damaging	Het
Samd7	G	A	3: 30,756,483	M216I	probably benign	Het
Ska3	A	T	14: 57,816,694	D266E	probably benign	Het
Slc1a7	G	A	4: 108,012,444	V569M	probably damaging	Het
Slc26a1	C	T	5: 108,674,006	E6K	possibly damaging	Het
Slc4a4	T	A	5: 89,197,704	V741E	probably benign	Het
St6galnac3	C	T	3: 153,206,715	G164S	probably damaging	Het
Tgs1	T	A	4: 3,595,383	N517K	probably benign	Het
Tns4	A	G	11: 99,073,720	S522P	probably damaging	Het
Trpm1	A	T	7: 64,267,976	M355L	probably damaging	Het
Trpm8	G	A	1: 88,306,678		probably benign	Het
Uhrf1bp1	G	A	17: 27,884,605		probably null	Het
V1ra8	T	C	6: 90,203,100	F95S	probably damaging	Het
Zfp521	A	C	18: 13,846,109	S416A	possibly damaging	Het
Zfp574	T	A	7: 25,080,339	V262E	probably benign	Het
Zfp740	T	A	15: 102,208,808	I77N	probably damaging	Het
Zscan18	A	T	7: 12,775,198		probably benign	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
R1667:Pla2g4d	UTSW	2	120270150	splice site	probably benign
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
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
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'- GTCGCCTTATGTCTGATGTCAC -3'
(R):5'- TGGGCTTCTCATACAAGCAATG -3'

Sequencing Primer
(F):5'- GATGTCACTCTTTGAATTCAGACC -3'
(R):5'- CAATGTCTGTTACTCTTGATGCAGAG -3'

Posted On

2017-08-16