Mutagenetix > Incidental Mutation

Incidental Mutation 'R0840:Plpp2'

77122

Institutional Source

Beutler Lab

Gene Symbol

Plpp2

Ensembl Gene

ENSMUSG00000052151

Gene Name

phospholipid phosphatase 2

Synonyms

Lpp2, Ppap2c

MMRRC Submission

039019-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79362258-79369621 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79363378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 151 (I151T)

Ref Sequence

ENSEMBL: ENSMUSP00000133247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063879] [ENSMUST00000165233] [ENSMUST00000166804] [ENSMUST00000218241]

AlphaFold

Q9DAX2

Predicted Effect

probably benign
Transcript: ENSMUST00000063879
AA Change: I207T

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000069670
Gene: ENSMUSG00000052151
AA Change: I207T

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
Blast:acidPPc	21	70	6e-9	BLAST
acidPPc	99	239	1.42e-41	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163602

Predicted Effect

probably benign
Transcript: ENSMUST00000165233

SMART Domains

Protein: ENSMUSP00000127000
Gene: ENSMUSG00000052151

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166804
AA Change: I151T

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133247
Gene: ENSMUSG00000052151
AA Change: I151T

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
acidPPc	43	183	1.42e-41	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184212

Predicted Effect

probably benign
Transcript: ENSMUST00000218241
AA Change: I89T

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a lipid phosphate phosphohydrolase. It is an integral membrane protein that catalyzes the conversion of phosphatidic acid to diacylglycerol and inorganic phosphate. The transcript is expressed at high levels in lung, liver, and kidney and at low levels in brain and heart. Null mutant mice are viable and fertile and display no overt phenotypic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	G	12: 71,205,657 (GRCm39)	Q434E	probably benign	Het
A930011G23Rik	T	C	5: 99,382,547 (GRCm39)	T234A	probably benign	Het
Acot5	G	A	12: 84,122,614 (GRCm39)	W399*	probably null	Het
Adra1a	A	G	14: 66,965,159 (GRCm39)	E383G	possibly damaging	Het
Ahnak	T	A	19: 8,982,427 (GRCm39)	I1237N	probably damaging	Het
Bsg	A	G	10: 79,545,519 (GRCm39)	T28A	probably damaging	Het
Cacna1i	A	T	15: 80,243,150 (GRCm39)	I436F	possibly damaging	Het
Cd109	T	C	9: 78,571,612 (GRCm39)	I417T	probably benign	Het
Cep295	A	T	9: 15,245,611 (GRCm39)	D948E	probably benign	Het
Cfap92	G	T	6: 87,657,260 (GRCm39)		noncoding transcript	Het
Clcn3	C	A	8: 61,382,188 (GRCm39)	V467F	probably benign	Het
Cntnap3	T	C	13: 64,935,724 (GRCm39)	S380G	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dll4	T	A	2: 119,156,966 (GRCm39)	N79K	probably benign	Het
Ep300	A	T	15: 81,529,134 (GRCm39)	N1558I	unknown	Het
Fblim1	A	G	4: 141,308,320 (GRCm39)	F330L	possibly damaging	Het
Fbxo46	T	A	7: 18,871,073 (GRCm39)	M564K	possibly damaging	Het
Fnip1	T	A	11: 54,384,007 (GRCm39)		probably benign	Het
Foxl2	A	T	9: 98,837,984 (GRCm39)	K91*	probably null	Het
Gapvd1	C	A	2: 34,619,125 (GRCm39)	V83F	probably benign	Het
Guk1	G	A	11: 59,075,921 (GRCm39)	R146C	probably damaging	Het
Irf8	G	A	8: 121,480,220 (GRCm39)	G153S	probably benign	Het
Kcnu1	T	A	8: 26,403,712 (GRCm39)	M1K	probably null	Het
Krt32	G	A	11: 99,972,068 (GRCm39)	P427S	probably benign	Het
Lrp12	A	G	15: 39,739,554 (GRCm39)	S529P	probably damaging	Het
Mettl22	T	C	16: 8,300,021 (GRCm39)	V134A	probably damaging	Het
Morc2b	G	T	17: 33,355,086 (GRCm39)	H895Q	probably benign	Het
Nrros	T	C	16: 31,962,241 (GRCm39)	D556G	probably damaging	Het
Nrxn3	A	G	12: 90,298,567 (GRCm39)	S1367G	possibly damaging	Het
Or10al7	A	G	17: 38,366,463 (GRCm39)	F7S	probably benign	Het
Or56b1b	A	T	7: 108,164,823 (GRCm39)	S60T	probably benign	Het
Pcnx3	T	A	19: 5,735,729 (GRCm39)		probably null	Het
Pgap2	A	T	7: 101,886,655 (GRCm39)	M226L	probably damaging	Het
Pik3c2g	A	G	6: 139,841,798 (GRCm39)	I616M	probably damaging	Het
Pisd	A	G	5: 32,894,656 (GRCm39)	I380T	probably damaging	Het
Pkhd1	T	C	1: 20,420,745 (GRCm39)	I2454V	probably damaging	Het
Polr3a	G	A	14: 24,502,268 (GRCm39)	T1295I	possibly damaging	Het
Pot1a	T	C	6: 25,748,283 (GRCm39)		probably benign	Het
Prpf39	T	G	12: 65,094,980 (GRCm39)	N219K	probably benign	Het
Rnf17	T	A	14: 56,712,904 (GRCm39)	N790K	probably damaging	Het
Slit3	C	T	11: 35,514,263 (GRCm39)		probably benign	Het
Stx1a	T	A	5: 135,070,088 (GRCm39)		probably benign	Het
Tenm3	C	A	8: 48,788,777 (GRCm39)	V690F	probably damaging	Het
Tmcc3	A	G	10: 94,414,633 (GRCm39)	I143V	probably benign	Het
Tmem41b	G	A	7: 109,580,256 (GRCm39)	S36F	probably damaging	Het
Trim5	A	T	7: 103,914,978 (GRCm39)	W364R	probably damaging	Het
Ttn	T	C	2: 76,617,155 (GRCm39)	Y16403C	probably damaging	Het
Vps8	T	C	16: 21,275,071 (GRCm39)	S210P	probably damaging	Het
Zbtb3	T	A	19: 8,780,821 (GRCm39)	S145T	possibly damaging	Het
Zfp882	T	A	8: 72,668,530 (GRCm39)	C452*	probably null	Het

Other mutations in Plpp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01321:Plpp2	APN	10	79,363,327 (GRCm39)	missense	probably damaging	1.00
IGL03327:Plpp2	APN	10	79,366,818 (GRCm39)	splice site	probably null
Trust	UTSW	10	79,366,763 (GRCm39)	missense	probably damaging	1.00
R0009:Plpp2	UTSW	10	79,363,078 (GRCm39)	missense	probably benign	0.01
R0056:Plpp2	UTSW	10	79,363,063 (GRCm39)	missense	probably damaging	0.99
R0097:Plpp2	UTSW	10	79,366,371 (GRCm39)	missense	possibly damaging	0.50
R0311:Plpp2	UTSW	10	79,363,414 (GRCm39)	missense	probably damaging	0.97
R1406:Plpp2	UTSW	10	79,366,611 (GRCm39)	splice site	probably benign
R1642:Plpp2	UTSW	10	79,366,518 (GRCm39)	missense	probably damaging	1.00
R3436:Plpp2	UTSW	10	79,363,647 (GRCm39)	critical splice donor site	probably null
R3437:Plpp2	UTSW	10	79,363,647 (GRCm39)	critical splice donor site	probably null
R4400:Plpp2	UTSW	10	79,363,327 (GRCm39)	missense	possibly damaging	0.88
R4521:Plpp2	UTSW	10	79,366,459 (GRCm39)	missense	probably damaging	1.00
R4873:Plpp2	UTSW	10	79,366,763 (GRCm39)	missense	probably damaging	1.00
R4875:Plpp2	UTSW	10	79,366,763 (GRCm39)	missense	probably damaging	1.00
R5114:Plpp2	UTSW	10	79,362,973 (GRCm39)	missense	probably benign	0.41
R6970:Plpp2	UTSW	10	79,366,380 (GRCm39)	missense	possibly damaging	0.90
R7383:Plpp2	UTSW	10	79,366,841 (GRCm39)	missense	probably null	0.99
R7902:Plpp2	UTSW	10	79,363,378 (GRCm39)	missense	possibly damaging	0.91
R7953:Plpp2	UTSW	10	79,366,374 (GRCm39)	missense	possibly damaging	0.89
R8237:Plpp2	UTSW	10	79,363,294 (GRCm39)	missense	possibly damaging	0.94
R9218:Plpp2	UTSW	10	79,366,501 (GRCm39)	missense	probably damaging	1.00
R9452:Plpp2	UTSW	10	79,363,702 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGGGTGTTCATAGCAGCTAGGG -3'
(R):5'- CTACTGCACAATGGGGTATGTGGAG -3'

Sequencing Primer
(F):5'- TCTGAAACATAGCGGACCTG -3'
(R):5'- GGAGGCACTAAGGGTCGC -3'

Posted On

2013-10-16