Mutagenetix > Incidental Mutation

Incidental Mutation 'R8752:Pla2g4d'

663899

Institutional Source

Beutler Lab

Gene Symbol

Pla2g4d

Ensembl Gene

ENSMUSG00000070719

Gene Name

phospholipase A2, group IVD

Synonyms

Pla2delta, 2610311B01Rik

MMRRC Submission

068595-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R8752 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120096347-120119678 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 120099248 bp (GRCm39)

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (55/55)

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
1700012B07Rik	T	C	11: 109,704,396 (GRCm39)	K82R	probably damaging	Het
Acad8	A	T	9: 26,896,853 (GRCm39)	M202K	probably damaging	Het
Adam29	A	T	8: 56,325,328 (GRCm39)	C375*	probably null	Het
Adat2	A	T	10: 13,432,604 (GRCm39)	E35D	probably benign	Het
Afm	A	C	5: 90,700,424 (GRCm39)	E600D	probably benign	Het
Ahnak	T	A	19: 8,992,901 (GRCm39)	D4728E	probably damaging	Het
Ak7	AAGGAG	AAG	12: 105,713,476 (GRCm39)		probably benign	Het
Ankrd28	C	A	14: 31,477,699 (GRCm39)		probably benign	Het
Ankrd31	A	T	13: 96,916,879 (GRCm39)	H131L	probably damaging	Het
Ano5	T	C	7: 51,196,617 (GRCm39)	F183L	probably damaging	Het
Asah1	G	A	8: 41,813,314 (GRCm39)	S33L	possibly damaging	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Ccdc47	A	G	11: 106,095,818 (GRCm39)	Y293H	probably damaging	Het
Cd302	A	G	2: 60,102,529 (GRCm39)	F30S	probably damaging	Het
Ces1c	C	G	8: 93,846,964 (GRCm39)	A243P	probably damaging	Het
Deptor	A	T	15: 55,044,280 (GRCm39)	T149S	probably benign	Het
Dnah14	G	A	1: 181,455,581 (GRCm39)	R902H	probably benign	Het
Dnah5	A	G	15: 28,290,365 (GRCm39)	I1252V	probably benign	Het
Dnah7c	A	G	1: 46,711,701 (GRCm39)	I2643V	probably benign	Het
Dnajc4	C	T	19: 6,966,801 (GRCm39)	V177I	probably benign	Het
Efhc1	A	T	1: 21,059,692 (GRCm39)	N581Y	probably benign	Het
Espl1	A	G	15: 102,214,759 (GRCm39)	T767A	probably damaging	Het
Etv6	A	G	6: 134,243,391 (GRCm39)	E382G	probably benign	Het
Foxd4	A	T	19: 24,878,094 (GRCm39)	D35E	probably damaging	Het
Gata2	T	C	6: 88,177,513 (GRCm39)	V181A	possibly damaging	Het
Gm5114	A	T	7: 39,057,927 (GRCm39)	M564K	probably damaging	Het
Gpr45	A	T	1: 43,071,842 (GRCm39)	I162F	possibly damaging	Het
Hic1	A	G	11: 75,060,206 (GRCm39)	F47S	probably benign	Het
Hsf1	C	A	15: 76,384,344 (GRCm39)	S417*	probably null	Het
Id4	A	T	13: 48,415,065 (GRCm39)	H31L	possibly damaging	Het
Il12rb2	T	C	6: 67,328,265 (GRCm39)	S322G	probably damaging	Het
Lcn11	T	C	2: 25,668,138 (GRCm39)	Y99H	probably damaging	Het
Mipol1	G	A	12: 57,372,367 (GRCm39)	R142Q	probably damaging	Het
Mpp2	A	G	11: 101,976,129 (GRCm39)	S10P	probably benign	Het
Muc15	A	T	2: 110,561,758 (GRCm39)	N65Y	possibly damaging	Het
Nav3	T	C	10: 109,596,165 (GRCm39)		probably benign	Het
Ndst3	C	T	3: 123,342,684 (GRCm39)	R709Q	probably damaging	Het
Nek11	G	T	9: 105,225,207 (GRCm39)	Q102K	probably benign	Het
Nhsl1	A	G	10: 18,407,113 (GRCm39)	N1416D	probably benign	Het
Or13p3	A	C	4: 118,567,083 (GRCm39)	T160P	probably damaging	Het
Or2v1	T	A	11: 49,025,505 (GRCm39)	V162E	possibly damaging	Het
Or4c111	T	C	2: 88,844,231 (GRCm39)	Y59C	probably damaging	Het
Or5p72	T	C	7: 108,022,480 (GRCm39)	I234T	probably benign	Het
Or5w20	T	C	2: 87,726,591 (GRCm39)	I16T	possibly damaging	Het
Parp4	G	T	14: 56,886,073 (GRCm39)	E1717D	unknown	Het
Pramel52-ps	A	T	5: 94,529,354 (GRCm39)	R41S	possibly damaging	Het
Psmc2	A	G	5: 22,001,533 (GRCm39)	I107V	probably benign	Het
Rhod	G	T	19: 4,476,121 (GRCm39)	T210N	probably damaging	Het
Setx	A	T	2: 29,048,992 (GRCm39)	D2006V	probably damaging	Het
Sfpq	T	A	4: 126,919,969 (GRCm39)	M541K	possibly damaging	Het
Sorbs1	C	T	19: 40,349,872 (GRCm39)		probably null	Het
Sv2b	C	A	7: 74,855,842 (GRCm39)	M149I	possibly damaging	Het
Svil	T	A	18: 5,060,366 (GRCm39)		probably benign	Het
Vmn1r216	G	T	13: 23,283,880 (GRCm39)	V188F	probably damaging	Het
Vmn2r27	A	G	6: 124,201,018 (GRCm39)	F313S	probably benign	Het
Vmn2r44	A	G	7: 8,370,805 (GRCm39)	F747S	probably damaging	Het
Vmn2r95	T	C	17: 18,661,738 (GRCm39)	S495P	probably damaging	Het
Xpo5	C	T	17: 46,547,838 (GRCm39)		probably benign	Het
Zscan20	A	C	4: 128,479,480 (GRCm39)	C1004G	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
R7284:Pla2g4d	UTSW	2	120,114,617 (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
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'- GGTCACTATAAAGTTCCAGGATAGC -3'
(R):5'- TAACACAGCTCCTTCTGGGC -3'

Sequencing Primer
(F):5'- TTCCAGGATAGCGACAAGTCCTTG -3'
(R):5'- TAGGGGCTGCAGCAATCTG -3'

Posted On

2021-03-08