Mutagenetix > Incidental Mutation

Incidental Mutation 'R7552:Pla2g4d'

584452

Institutional Source

Beutler Lab

Gene Symbol

Pla2g4d

Ensembl Gene

ENSMUSG00000070719

Gene Name

phospholipase A2, group IVD

Synonyms

Pla2delta, 2610311B01Rik

MMRRC Submission

045621-MU

Accession Numbers

Essential gene?

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

Stock #

R7552 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120265595-120289197 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120284139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 37 (I37T)

Ref Sequence

ENSEMBL: ENSMUSP00000092252 (fasta)

Gene Model

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

AlphaFold

Q50L43

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094665
AA Change: I37T

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092252
Gene: ENSMUSG00000070719
AA Change: I37T

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (89/89)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	A	G	10: 80,583,903	Y290H	probably benign	Het
Aco2	T	C	15: 81,903,941	V257A	probably damaging	Het
Adam26a	C	A	8: 43,569,970	C161F	possibly damaging	Het
Adam9	G	A	8: 24,955,972	P820S	unknown	Het
Adcy4	G	A	14: 55,773,465	T665M	probably benign	Het
AF529169	T	A	9: 89,601,835	H503L	probably benign	Het
Ahnak	T	A	19: 9,006,824	M1824K	probably benign	Het
Alpi	T	C	1: 87,099,073	N428D	probably benign	Het
Ano5	C	T	7: 51,546,780	P153L	probably benign	Het
Atp1a1	A	T	3: 101,582,121	L725*	probably null	Het
Atp8b2	G	A	3: 89,946,764	T595I	probably damaging	Het
Ccdc66	T	C	14: 27,498,863	I35V	possibly damaging	Het
Cd163	A	G	6: 124,307,228	T120A	probably benign	Het
Cmah	A	T	13: 24,456,955	T396S	possibly damaging	Het
Cmya5	C	T	13: 93,069,312	V3350I	probably benign	Het
Commd9	A	C	2: 101,901,065	K198N	probably damaging	Het
Cxcr1	A	G	1: 74,192,614	V83A	probably benign	Het
D630045J12Rik	A	G	6: 38,148,448	S1544P	probably damaging	Het
Ddt	A	T	10: 75,773,214		probably null	Het
Depdc7	A	G	2: 104,727,240	S222P	possibly damaging	Het
Ehd2	A	G	7: 15,950,506	I456T	probably damaging	Het
Epas1	A	T	17: 86,829,043	M748L	probably benign	Het
Esr1	G	A	10: 4,856,903	R273H	probably damaging	Het
Fras1	G	A	5: 96,768,438	D3444N	probably damaging	Het
Gm7682	G	A	5: 94,448,535	C477Y	probably damaging	Het
Hand2	A	G	8: 57,322,237	R111G	probably damaging	Het
Hecw1	A	T	13: 14,316,250	V306E	probably damaging	Het
Ift140	T	C	17: 25,033,115	I312T	probably benign	Het
Ikbke	A	T	1: 131,272,150	L257*	probably null	Het
Kcnk5	G	A	14: 20,142,281	P271S	probably benign	Het
Lama1	T	C	17: 67,737,667	V187A		Het
Lemd2	A	T	17: 27,193,836		probably null	Het
Lig3	T	A	11: 82,788,891	D341E	probably benign	Het
Lpcat1	C	T	13: 73,494,895	S196L	probably damaging	Het
Lrp1b	A	T	2: 40,677,570	D4048E		Het
Lrrfip1	G	A	1: 91,105,283	E158K	probably damaging	Het
Mcm5	T	C	8: 75,121,592	S490P	probably damaging	Het
Mia3	A	C	1: 183,365,695	Y73*	probably null	Het
Msr1	A	T	8: 39,623,962	N202K	probably benign	Het
N4bp2l2	A	T	5: 150,661,821	Y231*	probably null	Het
Nbeal2	A	G	9: 110,653,917	W11R	probably benign	Het
Ncor1	T	C	11: 62,373,424	E384G	possibly damaging	Het
Neb	A	G	2: 52,247,190	V254A		Het
Nlrp9b	T	C	7: 20,045,766	S785P	probably benign	Het
Olfr1024	A	G	2: 85,904,103	V317A	probably benign	Het
Olfr1191-ps1	A	G	2: 88,643,408	I214V	probably benign	Het
Olfr1258	G	T	2: 89,930,720	D304Y	probably benign	Het
Olfr2	T	C	7: 107,001,327	T178A	probably benign	Het
Olfr791	T	A	10: 129,526,560	F111Y	possibly damaging	Het
Oprd1	T	G	4: 132,113,781	I289L	possibly damaging	Het
Orc1	A	G	4: 108,588,754	N23S	probably benign	Het
Paip1	A	T	13: 119,440,820	H149L	possibly damaging	Het
Pdhx	A	T	2: 103,046,754	D103E	probably benign	Het
Pi4ka	T	C	16: 17,291,216	Y1614C		Het
Pias3	ACC	AC	3: 96,701,385		probably null	Het
Pigb	A	G	9: 73,034,488	V163A	probably benign	Het
Ppfia1	A	T	7: 144,506,245	V610D	probably damaging	Het
Prss1	T	C	6: 41,462,573	V80A	probably benign	Het
Psph	G	A	5: 129,770,736	R49W	probably benign	Het
Qrich2	T	C	11: 116,456,254	Y1248C	possibly damaging	Het
Rlbp1	T	A	7: 79,380,113	Y124F	probably damaging	Het
Scn4a	T	A	11: 106,349,169	E74V	probably benign	Het
Sdk2	A	T	11: 113,873,213	I249N	possibly damaging	Het
Sgsh	A	T	11: 119,346,552	L412Q	probably damaging	Het
Shank1	C	A	7: 44,353,028	D1390E	probably benign	Het
Slc12a6	A	G	2: 112,341,974	D421G	probably damaging	Het
Snx29	T	A	16: 11,420,785		probably null	Het
Spata31d1c	A	G	13: 65,036,123	Y493C	probably damaging	Het
Stmn4	G	A	14: 66,356,278	G40E	probably damaging	Het
Stox2	A	G	8: 47,203,119		probably null	Het
Strada	T	C	11: 106,187,004	S45G	unknown	Het
Taco1	G	A	11: 106,071,948	G154S	probably benign	Het
Tas2r121	T	C	6: 132,700,542	M156V	probably benign	Het
Tbc1d31	A	G	15: 57,940,740	S384G	probably benign	Het
Tbc1d9	A	T	8: 83,239,931	D387V	probably damaging	Het
Tet3	A	G	6: 83,368,307	L1716P	probably damaging	Het
Thbs1	A	G	2: 118,113,362	K154E	possibly damaging	Het
Ush2a	T	C	1: 188,267,044	Y184H	possibly damaging	Het
Vmn1r235	C	A	17: 21,261,451	Q13K	probably benign	Het
Vmn2r15	A	T	5: 109,292,908	Y361*	probably null	Het
Vmn2r88	A	T	14: 51,410,858		probably null	Het
Vps54	T	C	11: 21,298,831	V460A	probably benign	Het
Wdr64	A	G	1: 175,785,581	N674S	possibly damaging	Het
Zfp592	A	G	7: 81,023,642	D118G	probably benign	Het
Zfp763	A	G	17: 33,018,651	Y507H	probably benign	Het
Zfp934	T	C	13: 62,492,891	E16G	probably damaging	Het
Zfyve26	G	A	12: 79,290,957	L94F	probably 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
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
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
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'- ACTCACTGACAAAGTCAAGGGG -3'
(R):5'- TCACCCCAAGGCTATCTGTC -3'

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

Posted On

2019-10-17