Mutagenetix > Incidental Mutation

Incidental Mutation 'R3772:Pld2'

273374

Institutional Source

Beutler Lab

Gene Symbol

Pld2

Ensembl Gene

ENSMUSG00000020828

Gene Name

phospholipase D2

Synonyms

MMRRC Submission

040748-MU

Accession Numbers

Essential gene?

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

Stock #

R3772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70430890-70448936 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 70434949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018429] [ENSMUST00000108556] [ENSMUST00000108557] [ENSMUST00000157075]

AlphaFold

P97813

Predicted Effect

probably benign
Transcript: ENSMUST00000018429

SMART Domains

Protein: ENSMUSP00000018429
Gene: ENSMUSG00000020828

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

noncoding transcript
Transcript: ENSMUST00000100943

Predicted Effect

probably benign
Transcript: ENSMUST00000108556

SMART Domains

Protein: ENSMUSP00000104196
Gene: ENSMUSG00000020828

Domain	Start	End	E-Value	Type
PX	64	192	2.12e-20	SMART
PH	203	313	4.75e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108557

SMART Domains

Protein: ENSMUSP00000104197
Gene: ENSMUSG00000020828

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: ENSMUST00000157075

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,159,720 (GRCm39)		probably benign	Het
Adgrl1	A	G	8: 84,649,633 (GRCm39)	N97S	possibly damaging	Het
Aldh1a2	A	G	9: 71,160,202 (GRCm39)	D76G	probably damaging	Het
Aldh3a1	A	G	11: 61,105,431 (GRCm39)	E179G	possibly damaging	Het
Ap1g1	A	G	8: 110,564,418 (GRCm39)	D324G	probably damaging	Het
Arfgap2	A	G	2: 91,095,711 (GRCm39)	T12A	probably benign	Het
Aurka	A	G	2: 172,208,880 (GRCm39)	L85P	probably benign	Het
Birc6	T	A	17: 74,925,424 (GRCm39)		probably benign	Het
Bmp7	A	T	2: 172,712,015 (GRCm39)	I403N	probably damaging	Het
Carns1	A	G	19: 4,220,915 (GRCm39)		probably benign	Het
Ccdc88c	G	A	12: 100,932,359 (GRCm39)		probably benign	Het
Ccl2	C	T	11: 81,927,784 (GRCm39)	A76V	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Clstn2	A	G	9: 97,464,615 (GRCm39)	I180T	probably damaging	Het
Col24a1	T	C	3: 145,251,041 (GRCm39)	L1680P	probably damaging	Het
Col4a6	C	A	X: 139,955,196 (GRCm39)	G1416C	probably damaging	Het
Ctnna2	T	G	6: 76,950,752 (GRCm39)	N573T	probably damaging	Het
Cts8	G	A	13: 61,398,715 (GRCm39)		probably benign	Het
Cxcl17	A	G	7: 25,099,754 (GRCm39)		probably benign	Het
Defb18	T	C	1: 18,306,845 (GRCm39)	H37R	possibly damaging	Het
Dis3l2	T	C	1: 86,782,130 (GRCm39)	I229T	probably benign	Het
Dysf	G	A	6: 84,129,333 (GRCm39)	S1474N	possibly damaging	Het
Elf1	T	C	14: 79,804,650 (GRCm39)	V105A	possibly damaging	Het
F13a1	T	C	13: 37,082,108 (GRCm39)	K532R	probably benign	Het
Fmn1	T	G	2: 113,412,463 (GRCm39)	S996A	probably damaging	Het
Focad	A	C	4: 88,254,398 (GRCm39)		probably benign	Het
Frmd4a	A	T	2: 4,595,433 (GRCm39)	E109D	probably damaging	Het
Frrs1	T	G	3: 116,672,036 (GRCm39)	S45A	possibly damaging	Het
Gm5422	T	A	10: 31,124,510 (GRCm39)		noncoding transcript	Het
Gm5866	T	C	5: 52,740,088 (GRCm39)		noncoding transcript	Het
Hmcn2	C	T	2: 31,250,908 (GRCm39)	T790M	probably damaging	Het
Iglon5	A	T	7: 43,130,037 (GRCm39)	Y42*	probably null	Het
Khdrbs2	C	T	1: 32,283,157 (GRCm39)	Q90*	probably null	Het
Krt74	T	C	15: 101,670,630 (GRCm39)		noncoding transcript	Het
Lamc2	T	A	1: 152,999,997 (GRCm39)	M1121L	probably benign	Het
Lrig1	A	G	6: 94,582,798 (GRCm39)	L1073P	probably benign	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Man2c1	C	A	9: 57,047,661 (GRCm39)		probably benign	Het
Megf10	G	A	18: 57,416,934 (GRCm39)	D768N	probably benign	Het
Mycbp2	T	C	14: 103,371,224 (GRCm39)	N4108S	possibly damaging	Het
Nid1	A	G	13: 13,651,003 (GRCm39)		probably benign	Het
Nnt	A	G	13: 119,533,488 (GRCm39)	V59A	probably damaging	Het
Nsd1	G	A	13: 55,394,486 (GRCm39)	V696I	probably benign	Het
Or1o4	T	C	17: 37,590,745 (GRCm39)	T189A	probably benign	Het
Pag1	G	A	3: 9,764,688 (GRCm39)	T155M	probably benign	Het
Pgam5	T	C	5: 110,413,459 (GRCm39)	H176R	probably damaging	Het
Pid1	T	C	1: 84,015,918 (GRCm39)	D149G	probably damaging	Het
Pkp3	G	A	7: 140,662,259 (GRCm39)	M1I	probably null	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,735,978 (GRCm39)	T152A	possibly damaging	Het
Rab9b	T	A	X: 135,762,198 (GRCm39)	E67D	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf214	T	C	9: 45,777,932 (GRCm39)	M625V	possibly damaging	Het
Rwdd2a	A	C	9: 86,456,214 (GRCm39)	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,313,992 (GRCm39)	N1909D	probably benign	Het
Septin10	A	T	10: 59,012,709 (GRCm39)	M303K	probably damaging	Het
Sez6l2	A	G	7: 126,558,375 (GRCm39)	E339G	probably damaging	Het
Sf3b1	C	A	1: 55,039,150 (GRCm39)		probably benign	Het
Shisal1	A	T	15: 84,290,886 (GRCm39)	Y120*	probably null	Het
Ska3	C	T	14: 58,047,534 (GRCm39)	V334I	probably benign	Het
Srebf2	A	G	15: 82,066,309 (GRCm39)	K579R	probably benign	Het
St18	A	T	1: 6,914,553 (GRCm39)	K799I	probably damaging	Het
Strada	C	T	11: 106,055,648 (GRCm39)	R333Q	probably damaging	Het
Stradb	A	T	1: 59,024,544 (GRCm39)	I64L	probably benign	Het
Sun1	A	G	5: 139,224,575 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,242,292 (GRCm39)	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,344,087 (GRCm39)	R227W	probably damaging	Het
Tnk2	A	G	16: 32,498,640 (GRCm39)	D651G	probably damaging	Het
Trim43c	A	T	9: 88,729,810 (GRCm39)	D417V	probably damaging	Het
Tsc22d4	T	C	5: 137,757,495 (GRCm39)	L374P	possibly damaging	Het
Ttn	T	C	2: 76,601,711 (GRCm39)	T16872A	probably benign	Het
Ubr4	T	C	4: 139,180,011 (GRCm39)	V262A	possibly damaging	Het
Vmn2r60	A	T	7: 41,765,980 (GRCm39)	N29I	probably benign	Het
Xrn2	T	C	2: 146,903,207 (GRCm39)	V765A	probably benign	Het
Zbed4	C	T	15: 88,664,990 (GRCm39)	P353S	probably benign	Het
Zfp251	A	G	15: 76,737,836 (GRCm39)	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,384,413 (GRCm39)		probably null	Het
Zwilch	A	T	9: 64,063,316 (GRCm39)	F286I	probably benign	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
R0508:Pld2	UTSW	11	70,443,368 (GRCm39)	missense	probably damaging	0.98
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
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'- TCACTGGGAATGCAACTCGG -3'
(R):5'- ATGGCCAAGTTAGGAGGTCC -3'

Sequencing Primer
(F):5'- TGCAACTCGGAATAAAGCAGATAC -3'
(R):5'- CCAAGTTAGGAGGTCCTCAAAAAGC -3'

Posted On

2015-03-25