Mutagenetix > Incidental Mutation

Incidental Mutation 'R9273:Pld2'

703108

Institutional Source

Beutler Lab

Gene Symbol

Pld2

Ensembl Gene

ENSMUSG00000020828

Gene Name

phospholipase D2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.350) question?

Stock #

R9273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70430890-70448936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70448234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 894 (S894T)

Ref Sequence

ENSEMBL: ENSMUSP00000104197 (fasta)

Gene Model

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

AlphaFold

P97813

Predicted Effect

probably benign
Transcript: ENSMUST00000018429
AA Change: S883T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000018429
Gene: ENSMUSG00000020828
AA Change: S883T

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: S894T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104197
Gene: ENSMUSG00000020828
AA Change: S894T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (70/70)

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
Abcd2	T	C	15: 91,033,232 (GRCm39)	D728G	probably benign	Het
Adig	A	T	2: 158,347,727 (GRCm39)	D48V	probably damaging	Het
Adig	A	C	2: 158,349,890 (GRCm39)	*57S	probably null	Het
Amigo3	A	G	9: 107,932,020 (GRCm39)	D481G	probably damaging	Het
Atf6b	T	A	17: 34,872,968 (GRCm39)	M628K	probably damaging	Het
Atoh8	A	G	6: 72,212,129 (GRCm39)	L7P	probably damaging	Het
Bcl9	A	G	3: 97,115,959 (GRCm39)	S912P	probably damaging	Het
Card9	T	A	2: 26,247,310 (GRCm39)	I280F	probably damaging	Het
Ccr9	A	G	9: 123,609,085 (GRCm39)	T256A	probably benign	Het
Cd300lg	T	C	11: 101,939,590 (GRCm39)	I306T	probably damaging	Het
Cfap65	T	A	1: 74,960,769 (GRCm39)	M734L	probably benign	Het
Cobll1	A	G	2: 64,929,356 (GRCm39)	S657P	probably damaging	Het
Comp	A	G	8: 70,831,285 (GRCm39)	N384S	probably damaging	Het
Cps1	T	A	1: 67,191,445 (GRCm39)	V209D	possibly damaging	Het
Cwc22	A	T	2: 77,759,803 (GRCm39)	D81E	possibly damaging	Het
D630045J12Rik	G	A	6: 38,167,512 (GRCm39)	P1030L	possibly damaging	Het
Dcn	A	G	10: 97,343,637 (GRCm39)	Y199C	probably damaging	Het
Exosc3	A	T	4: 45,316,969 (GRCm39)	I228N	probably damaging	Het
Fbxo10	T	C	4: 45,062,178 (GRCm39)	H116R	probably benign	Het
Fbxo21	T	A	5: 118,146,108 (GRCm39)	I577N	probably damaging	Het
Flnc	A	T	6: 29,447,815 (GRCm39)	Q1206L	probably benign	Het
Fubp3	T	C	2: 31,503,056 (GRCm39)	F480L	probably benign	Het
Fzd5	T	C	1: 64,775,110 (GRCm39)	N217S	possibly damaging	Het
Garem1	G	A	18: 21,281,274 (GRCm39)	R361C	probably damaging	Het
Gcg	T	C	2: 62,306,133 (GRCm39)	M155V	probably null	Het
Gm7298	G	A	6: 121,756,604 (GRCm39)		probably benign	Het
Gpr160	T	A	3: 30,950,038 (GRCm39)	L37I	probably benign	Het
Grik1	G	A	16: 87,848,379 (GRCm39)	H130Y		Het
Hydin	T	A	8: 111,233,580 (GRCm39)	I1806N	probably damaging	Het
Isl1	A	T	13: 116,444,902 (GRCm39)	C42*	probably null	Het
Itpr2	T	C	6: 146,226,529 (GRCm39)	D1405G	probably damaging	Het
Kat6b	A	G	14: 21,711,551 (GRCm39)	N682D	probably benign	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kprp	A	C	3: 92,733,000 (GRCm39)	C17G	probably damaging	Het
Lsm14a	T	C	7: 34,088,225 (GRCm39)		probably benign	Het
Mrgpra2a	G	T	7: 47,076,307 (GRCm39)	T317K	probably benign	Het
Myh11	A	G	16: 14,054,283 (GRCm39)	V360A		Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Oaf	G	A	9: 43,133,966 (GRCm39)	P252S	probably benign	Het
Obox2	T	G	7: 15,131,290 (GRCm39)	V132G	unknown	Het
Or51v8	T	A	7: 103,319,633 (GRCm39)	T202S	probably benign	Het
Or52b1	A	G	7: 104,978,646 (GRCm39)	L251P	probably damaging	Het
Or5b109	C	T	19: 13,212,268 (GRCm39)	S218L	probably damaging	Het
Or5b12	T	C	19: 12,897,446 (GRCm39)	T76A	possibly damaging	Het
Plxna1	G	T	6: 89,296,364 (GRCm39)	S1893R	possibly damaging	Het
Prkd1	T	C	12: 50,472,232 (GRCm39)	E227G	possibly damaging	Het
Prox1	T	C	1: 189,893,242 (GRCm39)	N401S	possibly damaging	Het
Prune2	T	C	19: 17,095,690 (GRCm39)	V398A	possibly damaging	Het
Rasgef1a	A	G	6: 118,063,223 (GRCm39)	N285D	probably benign	Het
Rbbp5	A	G	1: 132,420,304 (GRCm39)	K179R	probably benign	Het
Rp9	G	A	9: 22,379,573 (GRCm39)		probably benign	Het
Slc15a2	A	G	16: 36,574,090 (GRCm39)	F588L	probably benign	Het
Sptan1	T	A	2: 29,880,977 (GRCm39)	D415E	possibly damaging	Het
Syne1	T	C	10: 4,990,901 (GRCm39)	K593E	probably benign	Het
Tab1	A	G	15: 80,041,904 (GRCm39)	T341A	probably benign	Het
Tmc4	T	C	7: 3,670,552 (GRCm39)	E513G	probably damaging	Het
Tmem131l	A	C	3: 83,848,244 (GRCm39)	V302G	probably damaging	Het
Tnip1	G	A	11: 54,807,783 (GRCm39)	H553Y	possibly damaging	Het
Tns2	C	T	15: 102,021,478 (GRCm39)	P1048S	probably damaging	Het
Twsg1	C	T	17: 66,233,306 (GRCm39)	V215I	probably damaging	Het
Txnl1	G	A	18: 63,825,325 (GRCm39)		probably benign	Het
Unc13c	A	G	9: 73,839,862 (GRCm39)	Y330H	possibly damaging	Het
Utrn	A	T	10: 12,509,707 (GRCm39)	W2422R	probably damaging	Het
Vmn2r112	T	A	17: 22,837,721 (GRCm39)	D727E	probably damaging	Het
Vmn2r59	G	T	7: 41,695,286 (GRCm39)	C375*	probably null	Het
Vopp1	G	T	6: 57,731,575 (GRCm39)	Q139K	possibly damaging	Het
Vwa5b1	T	C	4: 138,316,005 (GRCm39)	D579G	probably damaging	Het
Wdr6	A	G	9: 108,450,691 (GRCm39)	Y971H	probably benign	Het
Zfp354c	A	G	11: 50,706,059 (GRCm39)	F339L	probably damaging	Het
Zfyve26	A	G	12: 79,317,610 (GRCm39)		probably null	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
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
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'- AATTAGGATTCGGTAGCCCAGG -3'
(R):5'- CAAGGATCCAGGCACGATAG -3'

Sequencing Primer
(F):5'- GGCTACTGAGAGGTGGTATAGG -3'
(R):5'- ACGATAGGGCCCAACGG -3'

Posted On

2022-03-25