Mutagenetix > Incidental Mutation

Incidental Mutation 'R7284:Pla2g4d'

565848

Institutional Source

Beutler Lab

Gene Symbol

Pla2g4d

Ensembl Gene

ENSMUSG00000070719

Gene Name

phospholipase A2, group IVD

Synonyms

Pla2delta, 2610311B01Rik

MMRRC Submission

045392-MU

Accession Numbers

Essential gene?

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

Stock #

R7284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120096347-120119678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120114617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 38 (L38Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092252 (fasta)

Gene Model

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

AlphaFold

Q50L43

Predicted Effect

probably damaging
Transcript: ENSMUST00000094665
AA Change: L38Q

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

SMART Domains

Protein: ENSMUSP00000092252
Gene: ENSMUSG00000070719
AA Change: L38Q

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

Meta Mutation Damage Score

0.6378

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	T	7: 12,246,605 (GRCm39)	E34*	probably null	Het
4933421I07Rik	C	T	7: 42,097,404 (GRCm39)	R30H	probably damaging	Het
AB124611	C	A	9: 21,450,400 (GRCm39)	Q158K	probably benign	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abcc9	A	T	6: 142,628,643 (GRCm39)	L367Q	probably damaging	Het
Aftph	T	C	11: 20,676,812 (GRCm39)	K266E	probably benign	Het
Akap9	T	A	5: 4,006,246 (GRCm39)	D190E	probably damaging	Het
Angel1	G	T	12: 86,767,298 (GRCm39)	D359E	probably damaging	Het
Ano6	T	C	15: 95,846,184 (GRCm39)	I474T	probably damaging	Het
Atp2c1	A	T	9: 105,398,008 (GRCm39)		probably null	Het
Best1	T	C	19: 9,963,737 (GRCm39)		probably null	Het
Bhlha9	A	G	11: 76,563,492 (GRCm39)	S40G	probably benign	Het
Cabin1	G	A	10: 75,530,668 (GRCm39)	R178C		Het
Ccnb1ip1	A	G	14: 51,029,736 (GRCm39)	Y109H	probably damaging	Het
Col14a1	T	C	15: 55,381,715 (GRCm39)	S1763P	probably damaging	Het
Dars1	T	C	1: 128,300,004 (GRCm39)	T327A	probably benign	Het
Dhx8	T	C	11: 101,645,648 (GRCm39)	Y889H	probably damaging	Het
Dlg4	T	A	11: 69,932,908 (GRCm39)	Y523*	probably null	Het
Dnah10	A	T	5: 124,909,662 (GRCm39)	D4484V	probably benign	Het
Dnah9	A	T	11: 65,881,302 (GRCm39)	M2591K	probably damaging	Het
Dock2	T	C	11: 34,180,672 (GRCm39)	E1715G	probably benign	Het
Dym	A	G	18: 75,252,242 (GRCm39)	Y336C	possibly damaging	Het
Ezh2	A	G	6: 47,521,453 (GRCm39)	M439T	probably benign	Het
Folr1	T	G	7: 101,508,677 (GRCm39)	N83H	possibly damaging	Het
Ganab	T	C	19: 8,889,904 (GRCm39)	L656P	probably damaging	Het
Gmnc	T	C	16: 26,779,542 (GRCm39)	H161R	probably benign	Het
Gria4	A	G	9: 4,472,017 (GRCm39)	Y491H	probably damaging	Het
Heatr3	T	A	8: 88,883,402 (GRCm39)	C412S	possibly damaging	Het
Hmgcr	A	C	13: 96,789,173 (GRCm39)	V716G	probably damaging	Het
Igsf9	A	G	1: 172,324,479 (GRCm39)	D799G	probably damaging	Het
Ikbkb	T	C	8: 23,158,976 (GRCm39)	T501A	probably benign	Het
Kbtbd3	C	T	9: 4,330,690 (GRCm39)	R355*	probably null	Het
Kcna7	T	A	7: 45,058,652 (GRCm39)	I313N	probably damaging	Het
Kirrel1	A	C	3: 86,990,694 (GRCm39)	D709E	probably benign	Het
Klb	T	A	5: 65,540,821 (GRCm39)	S971R	probably benign	Het
Krtap4-13	A	T	11: 99,700,238 (GRCm39)	C140*	probably null	Het
Lacc1	A	T	14: 77,268,309 (GRCm39)	L334Q	probably damaging	Het
Map6d1	T	A	16: 20,059,775 (GRCm39)	R97*	probably null	Het
Mgat5b	T	C	11: 116,835,746 (GRCm39)	S129P	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Myh9	G	A	15: 77,671,796 (GRCm39)	R432C	probably damaging	Het
Ncf4	A	G	15: 78,144,902 (GRCm39)	T236A	probably benign	Het
Neb	T	C	2: 52,148,804 (GRCm39)	D2581G	probably damaging	Het
Nid1	T	A	13: 13,663,675 (GRCm39)	M778K	probably benign	Het
Npas2	A	G	1: 39,363,548 (GRCm39)	D209G	probably benign	Het
Nploc4	C	T	11: 120,307,196 (GRCm39)	V181I	possibly damaging	Het
Nrcam	A	T	12: 44,610,817 (GRCm39)	I506F	probably damaging	Het
Or52w1	T	A	7: 105,017,752 (GRCm39)	M73K	probably damaging	Het
Or5h27	A	G	16: 59,006,331 (GRCm39)	*172Q	probably null	Het
Or6c3b	T	C	10: 129,527,220 (GRCm39)	N230S	probably benign	Het
Pask	T	A	1: 93,248,391 (GRCm39)	Q970L	probably benign	Het
Pfkfb4	T	C	9: 108,840,308 (GRCm39)	I308T	possibly damaging	Het
Pld1	A	G	3: 28,185,882 (GRCm39)	T1036A	possibly damaging	Het
Pom121l2	A	G	13: 22,166,775 (GRCm39)	T349A	probably damaging	Het
Ppp1r13b	A	G	12: 111,801,400 (GRCm39)	I551T	possibly damaging	Het
Prps1l1	A	G	12: 35,035,317 (GRCm39)	N144S	possibly damaging	Het
Prss56	A	G	1: 87,113,123 (GRCm39)	N179S	probably null	Het
Prune2	T	C	19: 17,097,250 (GRCm39)	L918P	probably damaging	Het
Ptprz1	C	T	6: 23,000,097 (GRCm39)	T729I	probably damaging	Het
Relch	T	A	1: 105,662,308 (GRCm39)	H942Q	probably benign	Het
Rrp7a	T	C	15: 83,006,071 (GRCm39)	T60A	probably damaging	Het
Snx27	A	G	3: 94,431,498 (GRCm39)	Y299H	probably damaging	Het
Spaca3	G	T	11: 80,754,847 (GRCm39)	R96L	possibly damaging	Het
Stat1	A	G	1: 52,188,081 (GRCm39)	N495S	probably benign	Het
Tas2r130	T	C	6: 131,607,270 (GRCm39)	N175S	probably benign	Het
Tcaf2	A	G	6: 42,606,472 (GRCm39)	L494P	probably damaging	Het
Tdrd12	C	A	7: 35,179,561 (GRCm39)		probably null	Het
Thbs1	A	G	2: 117,949,837 (GRCm39)	N604S	probably damaging	Het
Togaram1	T	C	12: 65,055,454 (GRCm39)	F1482L	probably benign	Het
Trhr2	A	T	8: 123,087,114 (GRCm39)	S109T	probably damaging	Het
Trpc3	A	T	3: 36,678,562 (GRCm39)	M841K	probably damaging	Het
Tubgcp5	C	T	7: 55,473,315 (GRCm39)	R798C	probably benign	Het
Xirp2	T	A	2: 67,347,173 (GRCm39)	M3138K	probably benign	Het
Zdhhc4	G	A	5: 143,307,646 (GRCm39)	T125I	probably benign	Het
Zfp239	T	A	6: 117,848,716 (GRCm39)	C151*	probably null	Het
Zfp473	C	T	7: 44,382,627 (GRCm39)	E569K	not run	Het
Zzef1	T	A	11: 72,777,516 (GRCm39)	D1782E	probably damaging	Het

Other mutations in Pla2g4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Pla2g4d	APN	2	120,112,207 (GRCm39)	missense	probably damaging	1.00
IGL01405:Pla2g4d	APN	2	120,097,304 (GRCm39)	missense	probably benign	0.01
IGL01642:Pla2g4d	APN	2	120,111,117 (GRCm39)	missense	probably damaging	1.00
IGL01657:Pla2g4d	APN	2	120,105,768 (GRCm39)	missense	possibly damaging	0.91
BB001:Pla2g4d	UTSW	2	120,119,645 (GRCm39)	start gained	probably benign
R0962:Pla2g4d	UTSW	2	120,111,098 (GRCm39)	critical splice donor site	probably null
R1564:Pla2g4d	UTSW	2	120,099,384 (GRCm39)	missense	possibly damaging	0.76
R1576:Pla2g4d	UTSW	2	120,114,648 (GRCm39)	missense	probably damaging	1.00
R1667:Pla2g4d	UTSW	2	120,100,631 (GRCm39)	splice site	probably benign
R1680:Pla2g4d	UTSW	2	120,108,231 (GRCm39)	critical splice donor site	probably null
R1712:Pla2g4d	UTSW	2	120,107,971 (GRCm39)	missense	possibly damaging	0.51
R2253:Pla2g4d	UTSW	2	120,101,622 (GRCm39)	missense	probably damaging	0.99
R2919:Pla2g4d	UTSW	2	120,112,108 (GRCm39)	splice site	probably benign
R3122:Pla2g4d	UTSW	2	120,109,384 (GRCm39)	missense	probably benign	0.03
R4420:Pla2g4d	UTSW	2	120,114,644 (GRCm39)	missense	probably benign
R4737:Pla2g4d	UTSW	2	120,097,271 (GRCm39)	missense	probably benign	0.00
R4829:Pla2g4d	UTSW	2	120,097,224 (GRCm39)	missense	probably damaging	1.00
R5032:Pla2g4d	UTSW	2	120,112,176 (GRCm39)	nonsense	probably null
R5530:Pla2g4d	UTSW	2	120,100,036 (GRCm39)	missense	probably benign	0.06
R5677:Pla2g4d	UTSW	2	120,109,429 (GRCm39)	missense	possibly damaging	0.87
R6087:Pla2g4d	UTSW	2	120,100,487 (GRCm39)	missense	probably damaging	1.00
R6088:Pla2g4d	UTSW	2	120,100,487 (GRCm39)	missense	probably damaging	1.00
R6150:Pla2g4d	UTSW	2	120,100,045 (GRCm39)	missense	probably damaging	1.00
R6930:Pla2g4d	UTSW	2	120,101,114 (GRCm39)	missense	probably damaging	1.00
R7240:Pla2g4d	UTSW	2	120,100,830 (GRCm39)	missense	probably damaging	1.00
R7339:Pla2g4d	UTSW	2	120,109,459 (GRCm39)	missense	probably benign
R7552:Pla2g4d	UTSW	2	120,114,620 (GRCm39)	missense	possibly damaging	0.56
R7607:Pla2g4d	UTSW	2	120,119,457 (GRCm39)	missense	probably benign
R7692:Pla2g4d	UTSW	2	120,109,776 (GRCm39)	missense	possibly damaging	0.84
R7860:Pla2g4d	UTSW	2	120,097,211 (GRCm39)	missense	probably benign	0.13
R7924:Pla2g4d	UTSW	2	120,119,645 (GRCm39)	start gained	probably benign
R7972:Pla2g4d	UTSW	2	120,109,413 (GRCm39)	missense	probably benign	0.04
R8373:Pla2g4d	UTSW	2	120,107,980 (GRCm39)	missense	probably null	1.00
R8737:Pla2g4d	UTSW	2	120,100,466 (GRCm39)	missense	probably damaging	1.00
R8752:Pla2g4d	UTSW	2	120,099,248 (GRCm39)	critical splice donor site	probably null
R8987:Pla2g4d	UTSW	2	120,100,442 (GRCm39)	missense	probably damaging	1.00
R9221:Pla2g4d	UTSW	2	120,100,453 (GRCm39)	missense	possibly damaging	0.76
R9251:Pla2g4d	UTSW	2	120,099,378 (GRCm39)	missense	possibly damaging	0.87
R9740:Pla2g4d	UTSW	2	120,107,952 (GRCm39)	missense	probably damaging	1.00
X0026:Pla2g4d	UTSW	2	120,107,952 (GRCm39)	missense	probably damaging	0.99
X0028:Pla2g4d	UTSW	2	120,112,207 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACTGACAAAGTCAAGGGGAC -3'
(R):5'- ACCCCAAGGCTATCTGTCTC -3'

Sequencing Primer
(F):5'- CAGAAGAGAGTGGATTCTATACATCC -3'
(R):5'- TCTAAGGTGTTCCCCCAAAGG -3'

Posted On

2019-06-26