Mutagenetix > Incidental Mutation

Incidental Mutation 'R4945:Pld2'

381320

Institutional Source

Beutler Lab

Gene Symbol

Pld2

Ensembl Gene

ENSMUSG00000020828

Gene Name

phospholipase D2

Synonyms

MMRRC Submission

042542-MU

Accession Numbers

Essential gene?

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

Stock #

R4945 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

70430890-70448936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70446524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 20 (M20K)

Gene Model

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

AlphaFold

P97813

Predicted Effect

probably benign
Transcript: ENSMUST00000018429
AA Change: M759K

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018429
Gene: ENSMUSG00000020828
AA Change: M759K

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 benign
Transcript: ENSMUST00000108557
AA Change: M770K

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104197
Gene: ENSMUSG00000020828
AA Change: M770K

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 damaging
Transcript: ENSMUST00000130678
AA Change: M20K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179806

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	G	A	2: 26,876,622 (GRCm39)	R512H	probably damaging	Het
Adgrl2	T	A	3: 148,528,672 (GRCm39)	M1158L	probably damaging	Het
Adgrl3	C	A	5: 81,659,895 (GRCm39)	H153Q	probably damaging	Het
Aldh1a2	C	A	9: 71,123,198 (GRCm39)	Q24K	probably benign	Het
Atp1b1	A	G	1: 164,265,867 (GRCm39)	V298A	probably damaging	Het
Casp8ap2	T	A	4: 32,631,163 (GRCm39)	N74K	possibly damaging	Het
Cep135	A	G	5: 76,745,275 (GRCm39)	D229G	probably benign	Het
Cerk	C	G	15: 86,040,802 (GRCm39)	D186H	probably benign	Het
Cmtr2	T	C	8: 110,948,065 (GRCm39)	F125S	probably damaging	Het
Col6a1	A	G	10: 76,548,106 (GRCm39)	V650A	unknown	Het
Cuzd1	A	G	7: 130,918,350 (GRCm39)	F196L	probably damaging	Het
Esm1	T	G	13: 113,346,679 (GRCm39)		probably null	Het
Fbn2	T	A	18: 58,183,325 (GRCm39)	I1787F	possibly damaging	Het
Gm1110	T	C	9: 26,831,891 (GRCm39)	M87V	possibly damaging	Het
Gpr179	T	C	11: 97,240,544 (GRCm39)	H293R	probably damaging	Het
Grk2	A	G	19: 4,340,475 (GRCm39)	I302T	probably damaging	Het
Hoxb6	A	G	11: 96,190,085 (GRCm39)	Y28C	possibly damaging	Het
Ift27	A	G	15: 78,048,454 (GRCm39)	V110A	probably damaging	Het
Igfbp7	T	C	5: 77,499,104 (GRCm39)	D267G	probably benign	Het
Ighv1-49	C	A	12: 115,019,028 (GRCm39)	V56L	possibly damaging	Het
Ighv8-8	C	T	12: 115,257,881 (GRCm39)	M53I	probably benign	Het
Kcnj3	T	A	2: 55,327,590 (GRCm39)	N126K	probably damaging	Het
Kif12	C	T	4: 63,086,730 (GRCm39)		probably null	Het
Lrif1	A	C	3: 106,643,069 (GRCm39)	I725L	probably damaging	Het
Lrrk2	T	C	15: 91,689,123 (GRCm39)	V2265A	probably benign	Het
Med25	T	C	7: 44,532,526 (GRCm39)	N438S	possibly damaging	Het
Mex3b	A	T	7: 82,519,382 (GRCm39)	T566S	probably benign	Het
Mkx	T	C	18: 7,000,657 (GRCm39)	N95S	possibly damaging	Het
Morc3	A	T	16: 93,668,082 (GRCm39)	D820V	probably damaging	Het
Mroh4	G	T	15: 74,483,857 (GRCm39)	N562K	probably benign	Het
Ndst3	A	T	3: 123,346,201 (GRCm39)	I276N	probably damaging	Het
Notch2	A	G	3: 98,019,037 (GRCm39)	N733S	probably benign	Het
Or10a5	A	T	7: 106,635,526 (GRCm39)	M55L	probably benign	Het
Or2l13b	C	A	16: 19,349,307 (GRCm39)	R121L	probably benign	Het
Or51k1	G	A	7: 103,661,585 (GRCm39)	T108I	possibly damaging	Het
Or5ak24	T	C	2: 85,260,895 (GRCm39)	T93A	probably benign	Het
Or5m13	T	A	2: 85,748,917 (GRCm39)	I216N	possibly damaging	Het
Or8b38	G	T	9: 37,973,068 (GRCm39)	G151C	probably damaging	Het
Or8b44	A	T	9: 38,410,585 (GRCm39)	I207F	probably damaging	Het
Or8k37	T	C	2: 86,469,833 (GRCm39)	Y73C	probably damaging	Het
Patj	A	T	4: 98,383,301 (GRCm39)	N268Y	probably damaging	Het
Pbrm1	T	A	14: 30,774,173 (GRCm39)	D446E	probably damaging	Het
Pcdhga11	A	G	18: 37,891,085 (GRCm39)	T698A	probably benign	Het
Pde6a	T	C	18: 61,367,790 (GRCm39)	V266A	probably damaging	Het
Phax	G	T	18: 56,709,063 (GRCm39)	R209L	probably damaging	Het
Rabl3	T	C	16: 37,362,220 (GRCm39)	S20P	probably damaging	Het
Rad51	T	A	2: 118,957,629 (GRCm39)	V174E	probably damaging	Het
Rb1cc1	A	G	1: 6,319,851 (GRCm39)	E1090G	probably benign	Het
Rfc3	T	C	5: 151,566,450 (GRCm39)	E333G	probably damaging	Het
Rfx6	T	G	10: 51,602,947 (GRCm39)	Y821*	probably null	Het
Riok3	A	G	18: 12,261,972 (GRCm39)	D2G	probably damaging	Het
Rtn1	G	T	12: 72,264,258 (GRCm39)	A183E	probably damaging	Het
Skint8	T	C	4: 111,796,805 (GRCm39)	L303P	probably damaging	Het
Slc36a2	C	A	11: 55,065,520 (GRCm39)	V162L	probably benign	Het
Sorcs3	T	C	19: 48,752,587 (GRCm39)	V794A	possibly damaging	Het
Sspo	A	G	6: 48,444,021 (GRCm39)		probably null	Het
Tbk1	T	C	10: 121,387,174 (GRCm39)	N707S	probably damaging	Het
Tchhl1	A	T	3: 93,378,883 (GRCm39)	H529L	probably benign	Het
Tgfbr2	A	T	9: 115,960,633 (GRCm39)	H106Q	probably benign	Het
Trim8	A	G	19: 46,491,214 (GRCm39)	E111G	probably benign	Het
Tshz2	A	G	2: 169,725,794 (GRCm39)	Y130C	probably damaging	Het
Txndc15	T	A	13: 55,865,978 (GRCm39)	D147E	probably benign	Het
Vmn1r172	T	A	7: 23,359,745 (GRCm39)	L210H	possibly damaging	Het
Vmn1r55	A	G	7: 5,150,105 (GRCm39)	V106A	probably damaging	Het
Vmn2r49	T	A	7: 9,720,214 (GRCm39)	K426*	probably null	Het
Wnk2	C	T	13: 49,210,722 (GRCm39)	R206Q	probably damaging	Het
Zfp1007	A	T	5: 109,824,941 (GRCm39)	C170S	possibly damaging	Het
Zfp473	T	C	7: 44,383,988 (GRCm39)	N115S	probably benign	Het
Zfp536	G	T	7: 37,269,161 (GRCm39)	A85D	probably damaging	Het
Zfp853	C	A	5: 143,274,584 (GRCm39)	Q345H	unknown	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
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
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'- ATGCTATTCAGACTACAGGTGG -3'
(R):5'- AAGGGCACGTTGTCTGCTTG -3'

Sequencing Primer
(F):5'- AGACTACAGGTGGCTTTTCAC -3'
(R):5'- CACGTTGTCTGCTTGGGCTG -3'

Posted On

2016-04-27