Mutagenetix > Incidental Mutation

Incidental Mutation 'R6150:Pla2g4d'

489168

Institutional Source

Beutler Lab

Gene Symbol

Pla2g4d

Ensembl Gene

ENSMUSG00000070719

Gene Name

phospholipase A2, group IVD

Synonyms

Pla2delta, 2610311B01Rik

MMRRC Submission

044297-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120265595-120289197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120269564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 674 (D674G)

Ref Sequence

ENSEMBL: ENSMUSP00000092252 (fasta)

Gene Model

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

AlphaFold

Q50L43

Predicted Effect

probably damaging
Transcript: ENSMUST00000094665
AA Change: D674G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092252
Gene: ENSMUSG00000070719
AA Change: D674G

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

Meta Mutation Damage Score

0.9305

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (56/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,213,508	T74A	probably benign	Het
Arhgef1	T	C	7: 24,919,357		probably null	Het
Art1	C	G	7: 102,107,087	R162G	probably benign	Het
Boll	T	A	1: 55,270,653	I280F	possibly damaging	Het
Cep44	T	C	8: 56,539,805	E258G	probably benign	Het
Cutc	T	A	19: 43,759,889	V75E	probably damaging	Het
Dtx1	T	C	5: 120,681,363	K590R	probably damaging	Het
Eps8	A	T	6: 137,517,174	D295E	probably damaging	Het
Erc2	C	A	14: 28,141,291	S491Y	probably damaging	Het
F2rl3	G	T	8: 72,762,738	A198S	probably benign	Het
Fam83b	G	A	9: 76,492,357	T488M	probably damaging	Het
Fitm2	A	G	2: 163,470,074	L73P	probably damaging	Het
Fxyd1	T	C	7: 31,054,803		probably null	Het
Gm17186	T	C	14: 51,680,726		noncoding transcript	Het
Hivep3	C	A	4: 119,734,077	S94*	probably null	Het
Ifna1	T	A	4: 88,850,112	M9K	probably null	Het
Igsf11	G	A	16: 39,023,349	E275K	probably damaging	Het
Itga1	G	A	13: 114,968,233	L1086F	probably benign	Het
Itgav	T	C	2: 83,776,436	S374P	probably benign	Het
Jmy	A	T	13: 93,441,133	N842K	probably benign	Het
Kcnh6	G	A	11: 106,020,731	V595M	possibly damaging	Het
Kif13b	T	A	14: 64,751,639	I823N	probably damaging	Het
Kif26b	T	C	1: 178,915,546	L1069P	probably damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Kmt2b	G	T	7: 30,588,477		probably benign	Het
Map10	G	A	8: 125,671,589	D574N	probably damaging	Het
Mau2	A	T	8: 70,019,837	H565Q	probably benign	Het
Myb	A	G	10: 21,141,769	I641T	probably damaging	Het
Naaladl2	C	A	3: 24,552,050	G15V	probably null	Het
Olfr370	G	A	8: 83,541,153	C3Y	probably benign	Het
Olfr399	A	C	11: 74,054,319	S147A	probably benign	Het
Olfr800	A	G	10: 129,659,934	I43V	probably benign	Het
Olfr867	A	T	9: 20,054,874	N78K	probably benign	Het
Otog	A	G	7: 46,264,059	E772G	possibly damaging	Het
Pmpcb	A	G	5: 21,737,139		probably null	Het
Pomk	A	G	8: 25,983,256	V223A	possibly damaging	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Serpina1e	A	G	12: 103,950,807	V201A	probably benign	Het
Six5	C	T	7: 19,097,521	P646S	probably benign	Het
Slc17a9	A	G	2: 180,737,628	I298V	probably benign	Het
Slc37a2	G	T	9: 37,238,347	T188K	probably damaging	Het
Slc6a11	T	A	6: 114,245,618	F525I	probably benign	Het
Slit2	A	T	5: 48,304,174	D1504V	probably damaging	Het
Srcap	T	A	7: 127,534,828	M907K	probably damaging	Het
Sspo	T	C	6: 48,486,379	L3746P	probably benign	Het
Supv3l1	A	T	10: 62,435,722	N376K	possibly damaging	Het
Tekt3	A	T	11: 63,094,657	T430S	possibly damaging	Het
Tex2	A	T	11: 106,567,080	V508D	probably benign	Het
Tmem184c	G	T	8: 77,596,440	Q598K	probably benign	Het
Ube2v1	G	A	2: 167,617,954	R42*	probably null	Het
Usp45	A	C	4: 21,810,797	D331A	probably damaging	Het
Vangl1	T	C	3: 102,184,519	T84A	probably damaging	Het
Vgll3	T	A	16: 65,828,178		probably null	Het
Vmn1r61	T	A	7: 5,610,679	H212L	probably benign	Het
Vmn2r114	A	G	17: 23,291,295	V737A	probably benign	Het
Vmn2r35	A	T	7: 7,786,556	D727E	probably damaging	Het
Vps18	T	A	2: 119,297,592	Y965*	probably null	Het
Zfp521	A	T	18: 13,844,078	C1093S	probably damaging	Het
Zfp971	A	C	2: 178,033,454	H282P	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
R6088:Pla2g4d	UTSW	2	120270006	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'- GGATCTCAGAGCTCAACCAC -3'
(R):5'- GAGAGTTGCCGTTACCTATGG -3'

Sequencing Primer
(F):5'- GCCCTTCCCAATGGAGGAC -3'
(R):5'- GAAGGGTGACTGCTTCTAACC -3'

Posted On

2017-10-10