Mutagenetix > Incidental Mutation

Incidental Mutation 'R0508:Pld2'

47738

Institutional Source

Beutler Lab

Gene Symbol

Pld2

Ensembl Gene

ENSMUSG00000020828

Gene Name

phospholipase D2

Synonyms

MMRRC Submission

038703-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R0508 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

70430890-70448936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70443368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 421 (M421T)

Ref Sequence

ENSEMBL: ENSMUSP00000104197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018429] [ENSMUST00000108557]

AlphaFold

P97813

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018429
AA Change: M421T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018429
Gene: ENSMUSG00000020828
AA Change: M421T

Domain	Start	End	E-Value	Type
PX	64	192	2.12e-20	SMART
PH	203	313	4.75e-6	SMART
PLDc	437	464	8.44e-4	SMART
PLDc	751	778	4.12e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108557
AA Change: M421T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104197
Gene: ENSMUSG00000020828
AA Change: M421T

Domain	Start	End	E-Value	Type
PX	64	192	2.12e-20	SMART
PH	203	313	4.75e-6	SMART
PLDc	437	464	8.44e-4	SMART
PLDc	762	789	4.12e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179806

Meta Mutation Damage Score

0.2605

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: This gene is a member of the phospholipase D (PLD) superfamily. The encoded protein catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. Phosphatidic acid is an essential intracellular lipid second messenger for many signaling pathways and has been implicated in a variety of physiological processes including cytoskeletal organization and cell proliferation. A similar gene in human may also function as a guanine nucleotide exchange factor (GEF) for the small GTPase Rac2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out fail to exhibit Abeta42 suppression of LTP and show altered brain phosphatidic acid levels. Mice homozygous for a different knock-out allele show normal platelet function, hemostasis and thrombus formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,211,162 (GRCm39)	L632P	probably damaging	Het
4833439L19Rik	A	G	13: 54,700,863 (GRCm39)		probably null	Het
Abca4	T	C	3: 121,917,200 (GRCm39)		probably benign	Het
Adamts10	G	T	17: 33,762,692 (GRCm39)	G557V	probably damaging	Het
Adgrg6	T	C	10: 14,326,360 (GRCm39)	H424R	probably benign	Het
Ano4	T	C	10: 88,816,839 (GRCm39)	Q623R	probably damaging	Het
Ap1g1	T	A	8: 110,564,364 (GRCm39)		probably benign	Het
Ap3b1	T	C	13: 94,702,222 (GRCm39)	S1092P	unknown	Het
Arhgap32	A	T	9: 32,101,364 (GRCm39)		probably benign	Het
Arhgap40	A	T	2: 158,388,670 (GRCm39)	S535C	probably damaging	Het
Atp9a	T	C	2: 168,491,446 (GRCm39)		probably null	Het
Bicral	A	T	17: 47,136,327 (GRCm39)	H294Q	possibly damaging	Het
Ccdc121rt3	T	C	5: 112,502,685 (GRCm39)	K340E	probably damaging	Het
Cdhr5	T	A	7: 140,852,812 (GRCm39)	H58L	probably benign	Het
Cenpt	T	C	8: 106,576,147 (GRCm39)	E100G	possibly damaging	Het
Cep97	A	G	16: 55,750,969 (GRCm39)	S16P	probably benign	Het
Clec2i	T	A	6: 128,870,663 (GRCm39)	V67D	probably damaging	Het
Col22a1	A	G	15: 71,805,262 (GRCm39)	L146P	unknown	Het
Coq6	G	T	12: 84,414,913 (GRCm39)		probably benign	Het
Cyp1a1	A	G	9: 57,607,588 (GRCm39)	Q72R	probably benign	Het
Ep400	A	G	5: 110,887,374 (GRCm39)	S570P	probably benign	Het
Erbin	T	C	13: 103,970,535 (GRCm39)	N1027S	probably damaging	Het
Exog	T	A	9: 119,277,444 (GRCm39)		probably benign	Het
Fahd1	A	C	17: 25,068,975 (GRCm39)	V34G	probably benign	Het
Fetub	C	T	16: 22,748,045 (GRCm39)	R74W	probably benign	Het
Fhip2a	T	A	19: 57,367,174 (GRCm39)	L239Q	probably benign	Het
Frmpd1	G	A	4: 45,284,938 (GRCm39)	G1253D	unknown	Het
Galnt12	A	G	4: 47,104,255 (GRCm39)	D171G	probably damaging	Het
Gm973	G	T	1: 59,621,649 (GRCm39)		probably benign	Het
Hdlbp	C	A	1: 93,342,533 (GRCm39)		probably null	Het
Il1rl1	T	A	1: 40,490,877 (GRCm39)	I386N	possibly damaging	Het
Itgav	T	C	2: 83,623,002 (GRCm39)		probably benign	Het
Magoh	A	C	4: 107,742,195 (GRCm39)	K114Q	possibly damaging	Het
Mdfic2	T	C	6: 98,215,005 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,302,075 (GRCm39)	D986E	probably benign	Het
Muc4	G	A	16: 32,570,131 (GRCm39)	S397N	possibly damaging	Het
Nckap5	T	C	1: 125,909,121 (GRCm39)		probably null	Het
Neu1	A	G	17: 35,151,760 (GRCm39)	I185V	probably benign	Het
Nkiras1	T	A	14: 18,278,524 (GRCm38)	D79E	probably damaging	Het
Nkx3-1	A	G	14: 69,428,350 (GRCm39)	E66G	probably benign	Het
Or51a5	A	T	7: 102,771,193 (GRCm39)	I262N	possibly damaging	Het
Osbpl11	T	A	16: 33,016,465 (GRCm39)	N73K	probably benign	Het
Otulin	C	T	15: 27,608,944 (GRCm39)	V2I	possibly damaging	Het
Pdss2	CGGAG	CG	10: 43,097,927 (GRCm39)		probably benign	Het
Rgs11	A	G	17: 26,426,443 (GRCm39)		probably benign	Het
Rrad	A	T	8: 105,356,500 (GRCm39)	D133E	possibly damaging	Het
Scaf11	A	G	15: 96,318,368 (GRCm39)	S399P	probably damaging	Het
Sccpdh	A	G	1: 179,508,080 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,548,186 (GRCm39)	E1126G	probably damaging	Het
Selenop	T	G	15: 3,305,202 (GRCm39)	D119E	probably benign	Het
Serpinb3c	T	A	1: 107,204,651 (GRCm39)	S32C	probably damaging	Het
Serpine1	C	A	5: 137,093,770 (GRCm39)	K315N	probably benign	Het
Slc27a1	T	C	8: 72,032,872 (GRCm39)		probably benign	Het
Slc4a8	G	A	15: 100,686,973 (GRCm39)	R259Q	probably benign	Het
Smtnl2	C	T	11: 72,293,962 (GRCm39)	R198Q	probably damaging	Het
Spta1	A	C	1: 174,052,023 (GRCm39)	Y1819S	probably damaging	Het
Stard3	T	A	11: 98,263,140 (GRCm39)	I65N	probably damaging	Het
Tfrc	T	C	16: 32,448,997 (GRCm39)	L712P	probably damaging	Het
Tmem201	G	A	4: 149,816,343 (GRCm39)	R62C	probably damaging	Het
Trim5	A	T	7: 103,914,811 (GRCm39)	F410L	probably null	Het
Txndc2	T	A	17: 65,944,948 (GRCm39)	I410F	probably benign	Het
Urb1	C	T	16: 90,580,150 (GRCm39)		probably benign	Het
Vmn1r34	A	T	6: 66,614,392 (GRCm39)	F115L	probably benign	Het
Vnn1	T	C	10: 23,770,910 (GRCm39)	V46A	probably benign	Het
Xrn1	T	A	9: 95,933,789 (GRCm39)	S1615R	probably benign	Het
Zfand4	T	A	6: 116,262,828 (GRCm39)	C118S	probably damaging	Het
Zfp952	G	A	17: 33,221,979 (GRCm39)	E115K	possibly damaging	Het
Zfpm1	T	C	8: 123,061,872 (GRCm39)	F368L	probably damaging	Het

Other mutations in Pld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Pld2	APN	11	70,442,006 (GRCm39)	nonsense	probably null
IGL01094:Pld2	APN	11	70,432,132 (GRCm39)	missense	probably damaging	0.99
IGL01696:Pld2	APN	11	70,433,606 (GRCm39)	missense	probably damaging	1.00
IGL02165:Pld2	APN	11	70,446,503 (GRCm39)	missense	probably damaging	1.00
IGL02477:Pld2	APN	11	70,431,751 (GRCm39)	missense	possibly damaging	0.60
IGL02712:Pld2	APN	11	70,447,905 (GRCm39)	missense	probably benign	0.44
IGL03013:Pld2	APN	11	70,432,003 (GRCm39)	missense	probably damaging	1.00
R0117:Pld2	UTSW	11	70,448,214 (GRCm39)	missense	probably benign	0.19
R0130:Pld2	UTSW	11	70,445,174 (GRCm39)	missense	probably benign
R0973:Pld2	UTSW	11	70,447,907 (GRCm39)	missense	probably damaging	1.00
R0973:Pld2	UTSW	11	70,447,907 (GRCm39)	missense	probably damaging	1.00
R0974:Pld2	UTSW	11	70,447,907 (GRCm39)	missense	probably damaging	1.00
R1907:Pld2	UTSW	11	70,435,010 (GRCm39)	missense	probably damaging	0.99
R2087:Pld2	UTSW	11	70,433,786 (GRCm39)	missense	probably damaging	1.00
R2181:Pld2	UTSW	11	70,433,815 (GRCm39)	missense	possibly damaging	0.70
R2379:Pld2	UTSW	11	70,445,140 (GRCm39)	missense	probably benign	0.01
R3772:Pld2	UTSW	11	70,434,949 (GRCm39)	unclassified	probably benign
R3949:Pld2	UTSW	11	70,444,180 (GRCm39)	missense	probably benign
R4028:Pld2	UTSW	11	70,445,731 (GRCm39)	missense	probably damaging	1.00
R4029:Pld2	UTSW	11	70,445,731 (GRCm39)	missense	probably damaging	1.00
R4160:Pld2	UTSW	11	70,432,253 (GRCm39)	missense	probably damaging	1.00
R4428:Pld2	UTSW	11	70,432,160 (GRCm39)	missense	probably damaging	1.00
R4595:Pld2	UTSW	11	70,432,846 (GRCm39)	missense	probably damaging	1.00
R4945:Pld2	UTSW	11	70,446,524 (GRCm39)	missense	probably damaging	1.00
R5280:Pld2	UTSW	11	70,443,585 (GRCm39)	missense	probably damaging	1.00
R5659:Pld2	UTSW	11	70,448,387 (GRCm39)	makesense	probably null
R5773:Pld2	UTSW	11	70,446,758 (GRCm39)	missense	probably damaging	1.00
R5900:Pld2	UTSW	11	70,446,888 (GRCm39)	critical splice donor site	probably null
R6249:Pld2	UTSW	11	70,446,196 (GRCm39)	missense	probably damaging	1.00
R6362:Pld2	UTSW	11	70,445,501 (GRCm39)	missense	probably damaging	1.00
R6746:Pld2	UTSW	11	70,431,933 (GRCm39)	missense	probably damaging	0.96
R6922:Pld2	UTSW	11	70,444,273 (GRCm39)	missense	probably benign	0.02
R7213:Pld2	UTSW	11	70,444,198 (GRCm39)	missense	probably benign	0.02
R7754:Pld2	UTSW	11	70,443,695 (GRCm39)	critical splice donor site	probably null
R8122:Pld2	UTSW	11	70,432,259 (GRCm39)	nonsense	probably null
R8383:Pld2	UTSW	11	70,442,255 (GRCm39)	missense	possibly damaging	0.93
R8489:Pld2	UTSW	11	70,445,121 (GRCm39)	missense	probably damaging	0.99
R8675:Pld2	UTSW	11	70,445,713 (GRCm39)	missense	probably null	0.97
R8709:Pld2	UTSW	11	70,444,275 (GRCm39)	missense	probably damaging	1.00
R8802:Pld2	UTSW	11	70,446,824 (GRCm39)	missense	probably damaging	0.98
R9124:Pld2	UTSW	11	70,431,696 (GRCm39)	missense	probably damaging	0.97
R9273:Pld2	UTSW	11	70,448,234 (GRCm39)	missense	probably benign	0.03
R9606:Pld2	UTSW	11	70,445,893 (GRCm39)	nonsense	probably null
R9617:Pld2	UTSW	11	70,447,944 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTCTGGATGCACGTAGGAGAGC -3'
(R):5'- TGATGAGCCCACAGTGTCACAAGG -3'

Sequencing Primer
(F):5'- TAGGAGAGCACCCTGGTAG -3'
(R):5'- CACAGTGTCACAAGGTCTGG -3'

Posted On

2013-06-12