Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Pld2'

500406

Institutional Source

Beutler Lab

Gene Symbol

Pld2

Ensembl Gene

ENSMUSG00000020828

Gene Name

phospholipase D2

Synonyms

MMRRC Submission

039102-MU

Accession Numbers

Essential gene?

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

Stock #

R0973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70430890-70448936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70447907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 857 (W857R)

Ref Sequence

ENSEMBL: ENSMUSP00000104197 (fasta)

Gene Model

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

AlphaFold

P97813

Predicted Effect

probably damaging
Transcript: ENSMUST00000018429
AA Change: W846R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000018429
Gene: ENSMUSG00000020828
AA Change: W846R

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: W857R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104197
Gene: ENSMUSG00000020828
AA Change: W857R

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

unknown
Transcript: ENSMUST00000130678
AA Change: W107R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179806

Meta Mutation Damage Score

0.9662

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

93% (38/41)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
4930503L19Rik	T	A	18: 70,600,997 (GRCm39)		probably null	Het
Adam18	T	C	8: 25,137,869 (GRCm39)	T324A	probably benign	Het
Adamts20	T	A	15: 94,184,252 (GRCm39)	Q1517L	probably benign	Het
AI429214	A	G	8: 37,461,473 (GRCm39)	Q207R	probably benign	Het
Arhgef7	A	G	8: 11,869,659 (GRCm39)	T432A	possibly damaging	Het
Atad2b	A	G	12: 5,081,784 (GRCm39)	N1231S	probably benign	Het
Atp13a1	T	C	8: 70,254,794 (GRCm39)		probably null	Het
Atp6v0a1	T	A	11: 100,946,317 (GRCm39)	L770*	probably null	Het
Atp8b3	T	C	10: 80,370,032 (GRCm39)	N127S	probably damaging	Het
B3gnt5	T	A	16: 19,588,760 (GRCm39)	D326E	probably damaging	Het
Birc6	T	A	17: 74,872,856 (GRCm39)	S372T	probably damaging	Het
Btbd9	T	A	17: 30,518,607 (GRCm39)	D451V	probably damaging	Het
Cd46	T	C	1: 194,724,300 (GRCm39)	*366W	probably null	Het
Cdcp3	T	C	7: 130,839,911 (GRCm39)	L611P	probably damaging	Het
Cdh18	T	A	15: 23,474,081 (GRCm39)	D650E	probably damaging	Het
Cenpc1	A	T	5: 86,185,767 (GRCm39)	V248E	probably damaging	Het
Cep152	A	G	2: 125,436,819 (GRCm39)	S574P	probably benign	Het
Chd2	A	G	7: 73,128,412 (GRCm39)	S858P	probably damaging	Het
Cib4	T	C	5: 30,645,938 (GRCm39)	D110G	probably damaging	Het
Col9a2	T	A	4: 120,896,985 (GRCm39)		probably null	Het
Csmd2	A	T	4: 128,389,981 (GRCm39)	I2239F	possibly damaging	Het
Csmd3	C	A	15: 47,522,485 (GRCm39)	G2728V	probably damaging	Het
Cxcl1	A	T	5: 91,039,626 (GRCm39)	K85*	probably null	Het
Cyp2d11	A	G	15: 82,273,730 (GRCm39)	L416P	possibly damaging	Het
Daam1	A	C	12: 71,962,558 (GRCm39)	K90T	unknown	Het
Depdc5	T	A	5: 33,144,310 (GRCm39)	M1435K	possibly damaging	Het
Dip2c	G	A	13: 9,626,944 (GRCm39)	A632T	probably damaging	Het
Dld	A	T	12: 31,384,053 (GRCm39)	I350N	probably damaging	Het
Dmtf1	T	A	5: 9,177,987 (GRCm39)	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,579,710 (GRCm39)	V3081A	probably damaging	Het
Efemp1	A	G	11: 28,804,538 (GRCm39)	E22G	probably damaging	Het
Ephb6	A	G	6: 41,591,038 (GRCm39)	D65G	probably damaging	Het
Fsip2	A	T	2: 82,807,436 (GRCm39)	T1252S	probably benign	Het
Gm4847	A	G	1: 166,457,824 (GRCm39)	S510P	probably benign	Het
Golga4	T	C	9: 118,366,341 (GRCm39)	I365T	probably damaging	Het
Gp2	A	T	7: 119,053,766 (GRCm39)	L65Q	probably damaging	Het
Ibtk	T	C	9: 85,625,630 (GRCm39)	Y40C	probably damaging	Het
Ice1	C	A	13: 70,750,546 (GRCm39)	V1847L	probably benign	Het
Ift172	C	T	5: 31,422,699 (GRCm39)	R917H	probably benign	Het
Itgae	C	T	11: 73,029,335 (GRCm39)	Q1037*	probably null	Het
Kbtbd7	A	G	14: 79,664,870 (GRCm39)	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,332,576 (GRCm39)	T235A	probably benign	Het
Klk13	T	C	7: 43,370,582 (GRCm39)		probably null	Het
Lrfn5	G	A	12: 61,890,223 (GRCm39)	G504D	probably damaging	Het
Macf1	A	G	4: 123,369,793 (GRCm39)	V91A	possibly damaging	Het
Map6	G	A	7: 98,985,950 (GRCm39)	G821D	possibly damaging	Het
Mark1	A	C	1: 184,653,801 (GRCm39)	V167G	probably damaging	Het
Mrgprf	T	A	7: 144,861,993 (GRCm39)	L185Q	probably damaging	Het
Mtor	T	A	4: 148,634,645 (GRCm39)	V2422D	probably damaging	Het
Myh13	T	A	11: 67,223,346 (GRCm39)	I222N	probably damaging	Het
Myh7b	G	A	2: 155,462,347 (GRCm39)	C350Y	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm3	C	A	3: 114,895,635 (GRCm39)	S172R	probably benign	Het
Or13e8	A	G	4: 43,696,706 (GRCm39)	S156P	probably damaging	Het
Or1j14	A	G	2: 36,418,020 (GRCm39)	I199V	probably benign	Het
Or4c1	A	T	2: 89,133,528 (GRCm39)	I136N	probably damaging	Het
Or5d40	A	T	2: 88,015,322 (GRCm39)	T34S	probably benign	Het
Or8b48	T	A	9: 38,492,579 (GRCm39)	V2D	possibly damaging	Het
Pacs1	A	T	19: 5,193,857 (GRCm39)	D557E	probably damaging	Het
Pde1c	A	G	6: 56,338,800 (GRCm39)	F11L	probably benign	Het
Phactr2	T	C	10: 13,122,883 (GRCm39)	D343G	possibly damaging	Het
Piezo2	T	C	18: 63,148,873 (GRCm39)	Y2659C	probably damaging	Het
Pkd2l2	A	G	18: 34,561,305 (GRCm39)	T438A	probably damaging	Het
Plxnb1	T	C	9: 108,931,210 (GRCm39)	V410A	possibly damaging	Het
Pramel26	T	C	4: 143,538,428 (GRCm39)	Y181C	probably damaging	Het
Ptger2	A	G	14: 45,226,957 (GRCm39)	Y179C	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rcan1	A	T	16: 92,190,408 (GRCm39)	M177K	probably benign	Het
Rilpl1	A	G	5: 124,639,934 (GRCm39)	S156P	probably benign	Het
Rilpl1	A	G	5: 124,639,951 (GRCm39)	I122T	possibly damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rpa1	C	T	11: 75,203,799 (GRCm39)		probably null	Het
Saxo2	A	G	7: 82,284,078 (GRCm39)	V260A	probably benign	Het
Sel1l	T	C	12: 91,791,634 (GRCm39)	Y309C	probably damaging	Het
Setd1b	GCCCCCCC	GCCCCCCCCCCCCC	5: 123,298,766 (GRCm39)		probably benign	Het
Slc33a1	A	G	3: 63,850,725 (GRCm39)	F533S	probably benign	Het
Slc38a4	C	T	15: 96,903,739 (GRCm39)	V421M	probably benign	Het
Snx14	A	G	9: 88,282,774 (GRCm39)		probably null	Het
Spef2	A	G	15: 9,716,482 (GRCm39)	F368S	probably damaging	Het
Sri	A	T	5: 8,109,381 (GRCm39)	Q55L	probably damaging	Het
Stat4	A	G	1: 52,135,979 (GRCm39)	I429M	probably damaging	Het
Stkld1	A	T	2: 26,841,462 (GRCm39)	Q469L	probably benign	Het
Tm9sf1	T	C	14: 55,880,392 (GRCm39)	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,713,699 (GRCm39)	T122A	probably benign	Het
Tmem59l	G	A	8: 70,938,710 (GRCm39)	P124S	possibly damaging	Het
Tmem81	G	A	1: 132,435,662 (GRCm39)	R156Q	probably damaging	Het
Trpv6	T	A	6: 41,602,122 (GRCm39)	T396S	probably benign	Het
Usp24	T	A	4: 106,228,276 (GRCm39)	Y780*	probably null	Het
Utp25	A	T	1: 192,797,011 (GRCm39)	N573K	probably damaging	Het
Vmn1r120	A	G	7: 20,786,941 (GRCm39)	C257R	probably damaging	Het
Vmn2r53	A	G	7: 12,335,319 (GRCm39)	F114L	probably damaging	Het
Vwf	A	G	6: 125,619,969 (GRCm39)	E1549G	probably damaging	Het
Zfp626	G	A	7: 27,517,907 (GRCm39)	R296H	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
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
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

Posted On

2017-12-01