Mutagenetix > Incidental Mutation

Incidental Mutation 'R5114:Plpp2'

394098

Institutional Source

Beutler Lab

Gene Symbol

Plpp2

Ensembl Gene

ENSMUSG00000052151

Gene Name

phospholipid phosphatase 2

Synonyms

Lpp2, Ppap2c

MMRRC Submission

042702-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5114 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

79362258-79369621 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 79362973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 157 (R157L)

Ref Sequence

ENSEMBL: ENSMUSP00000151683 (fasta)

Gene Model

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

AlphaFold

Q9DAX2

Predicted Effect

probably benign
Transcript: ENSMUST00000063879
AA Change: R275L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000069670
Gene: ENSMUSG00000052151
AA Change: R275L

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: R219L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000133247
Gene: ENSMUSG00000052151
AA Change: R219L

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: R157L

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (93/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	A	9: 120,406,693 (GRCm39)		probably benign	Het
Ada	G	A	2: 163,572,406 (GRCm39)	R225C	probably benign	Het
Adamts9	T	C	6: 92,867,254 (GRCm39)	K625R	probably benign	Het
Ano1	T	C	7: 144,210,820 (GRCm39)	I182V	possibly damaging	Het
Aoc1l2	A	T	6: 48,908,292 (GRCm39)	M431L	probably benign	Het
Aox4	T	C	1: 58,285,445 (GRCm39)	V643A	possibly damaging	Het
Arcn1	T	C	9: 44,671,441 (GRCm39)	I29V	probably benign	Het
Arhgap15	A	G	2: 43,670,630 (GRCm39)	T5A	probably benign	Het
Asb10	A	T	5: 24,745,740 (GRCm39)	L62Q	probably damaging	Het
Atp23	T	A	10: 126,723,403 (GRCm39)	H233L	possibly damaging	Het
Bglap2	C	T	3: 88,289,432 (GRCm39)		probably benign	Het
Carnmt1	T	C	19: 18,655,098 (GRCm39)	S84P	probably damaging	Het
Ccdc152	A	G	15: 3,312,319 (GRCm39)	I180T	probably damaging	Het
Cdr2l	T	C	11: 115,284,186 (GRCm39)	F174S	probably damaging	Het
Celsr2	C	T	3: 108,301,312 (GRCm39)	V2695I	probably benign	Het
Chd1	C	A	17: 15,948,460 (GRCm39)	S127R	probably benign	Het
Chmp4c	T	A	3: 10,450,646 (GRCm39)	F75L	probably benign	Het
Col13a1	A	C	10: 61,725,880 (GRCm39)	V260G	possibly damaging	Het
Col5a1	A	G	2: 27,915,664 (GRCm39)	N183D	probably damaging	Het
Cpn1	C	T	19: 43,974,634 (GRCm39)	V32M	probably damaging	Het
Cxcl1	A	G	5: 91,039,373 (GRCm39)	M39V	probably benign	Het
Dpep2	T	A	8: 106,712,825 (GRCm39)	D455V	probably damaging	Het
Dpp7	G	A	2: 25,242,749 (GRCm39)	T441I	possibly damaging	Het
Dst	C	A	1: 34,241,640 (GRCm39)	H4001N	probably damaging	Het
Epg5	G	A	18: 78,038,828 (GRCm39)	A1519T	probably benign	Het
Esrp2	C	T	8: 106,858,820 (GRCm39)	V606I	probably benign	Het
Fbxo40	T	C	16: 36,789,236 (GRCm39)	K625E	probably damaging	Het
Gbp2b	A	T	3: 142,303,946 (GRCm39)	I14F	probably damaging	Het
Gpr37l1	G	T	1: 135,094,676 (GRCm39)	F189L	probably damaging	Het
Heatr5a	G	A	12: 52,003,020 (GRCm39)	Q161*	probably null	Het
Hspa4l	T	C	3: 40,700,197 (GRCm39)	Y30H	possibly damaging	Het
Hspg2	G	A	4: 137,239,237 (GRCm39)	C388Y	probably damaging	Het
Kcna1	A	G	6: 126,619,330 (GRCm39)	I330T	probably damaging	Het
Klhl3	T	A	13: 58,166,781 (GRCm39)	Y350F	probably benign	Het
Kntc1	T	C	5: 123,919,118 (GRCm39)		probably null	Het
Krtap10-4	A	T	10: 77,662,520 (GRCm39)	C109*	probably null	Het
Lrch4	T	C	5: 137,636,179 (GRCm39)	S377P	probably benign	Het
Lrrc8c	C	A	5: 105,755,349 (GRCm39)	H375N	probably damaging	Het
Lsg1	T	C	16: 30,380,538 (GRCm39)	E633G	probably damaging	Het
Mcoln1	T	C	8: 3,560,697 (GRCm39)		probably benign	Het
Med12l	C	A	3: 59,167,109 (GRCm39)	T1523K	possibly damaging	Het
Mrps27	A	T	13: 99,547,973 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,780,717 (GRCm39)	Y158F	probably benign	Het
Nat8l	T	A	5: 34,155,823 (GRCm39)	C160S	probably damaging	Het
Ncf4	T	C	15: 78,146,593 (GRCm39)		probably benign	Het
Or1b1	A	T	2: 36,994,814 (GRCm39)	Y283N	probably damaging	Het
Or1o3	T	C	17: 37,573,730 (GRCm39)	Y275C	probably damaging	Het
Pak2	T	A	16: 31,861,936 (GRCm39)		probably benign	Het
Pcdhga12	T	C	18: 37,901,160 (GRCm39)	I664T	probably benign	Het
Pcnx2	A	C	8: 126,564,749 (GRCm39)	L1048R	possibly damaging	Het
Pcsk5	T	C	19: 17,652,949 (GRCm39)	M246V	probably damaging	Het
Pkd2l2	T	A	18: 34,566,355 (GRCm39)	V522D	probably benign	Het
Plekhh1	A	T	12: 79,115,880 (GRCm39)	M808L	probably benign	Het
Plrg1	T	A	3: 82,978,558 (GRCm39)	H441Q	probably benign	Het
Pnpla6	T	C	8: 3,572,613 (GRCm39)	V300A	probably damaging	Het
Ptprb	A	T	10: 116,184,088 (GRCm39)	K1633N	possibly damaging	Het
Ralgapa1	A	G	12: 55,659,508 (GRCm39)	V2004A	possibly damaging	Het
Rasd1	G	T	11: 59,854,933 (GRCm39)	S182R	possibly damaging	Het
Rc3h2	A	T	2: 37,288,373 (GRCm39)		probably null	Het
Rrp1b	T	A	17: 32,255,445 (GRCm39)		probably benign	Het
Ruvbl1	T	C	6: 88,474,272 (GRCm39)	I425T	probably benign	Het
Shisal1	T	C	15: 84,301,427 (GRCm39)	D72G	probably damaging	Het
Sipa1l1	C	T	12: 82,487,682 (GRCm39)	A1652V	probably benign	Het
Slc12a2	A	G	18: 58,032,344 (GRCm39)	Y348C	probably damaging	Het
Slc14a2	C	A	18: 78,238,963 (GRCm39)	V219L	possibly damaging	Het
Smc1b	G	T	15: 84,949,185 (GRCm39)	P1242Q	probably damaging	Het
Smim33	A	G	18: 35,861,894 (GRCm39)	Y126C	probably damaging	Het
Snx27	T	A	3: 94,431,551 (GRCm39)	D281V	probably damaging	Het
Spem2	C	T	11: 69,707,973 (GRCm39)	V331I	probably benign	Het
Sptb	C	A	12: 76,656,052 (GRCm39)	K1343N	probably damaging	Het
Sult2a8	T	C	7: 14,147,584 (GRCm39)	I236V	probably benign	Het
Syk	A	G	13: 52,765,071 (GRCm39)	E66G	probably damaging	Het
Synm	T	A	7: 67,385,406 (GRCm39)	E310V	probably damaging	Het
Tas2r118	G	A	6: 23,969,209 (GRCm39)	A284V	probably benign	Het
Thoc2l	T	A	5: 104,667,742 (GRCm39)	F755I	probably damaging	Het
Tlr11	A	G	14: 50,600,578 (GRCm39)	N855D	possibly damaging	Het
Tmem230	G	T	2: 132,087,871 (GRCm39)		probably benign	Het
Trappc8	G	A	18: 20,977,237 (GRCm39)	T844I	probably benign	Het
Trmt44	T	C	5: 35,722,812 (GRCm39)	S419G	possibly damaging	Het
Trpv1	T	A	11: 73,132,574 (GRCm39)	V396E	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubgcp2	A	G	7: 139,587,354 (GRCm39)	I337T	possibly damaging	Het
Ubr4	T	C	4: 139,137,934 (GRCm39)	I1097T	probably damaging	Het
Vmn2r61	T	C	7: 41,949,953 (GRCm39)	F791S	possibly damaging	Het
Zdhhc2	T	A	8: 40,898,825 (GRCm39)	M45K	probably benign	Het
Zfp383	T	A	7: 29,614,166 (GRCm39)	D140E	probably damaging	Het
Zfp712	C	A	13: 67,189,425 (GRCm39)	K367N	probably damaging	Het
Zfp763	C	T	17: 33,237,949 (GRCm39)	A399T	probably damaging	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
R0840:Plpp2	UTSW	10	79,363,378 (GRCm39)	missense	probably benign	0.16
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
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'- GACCACATCTTTTGAAGTCATGTG -3'
(R):5'- TCCCTTAGGGTTCCCAGATG -3'

Sequencing Primer
(F):5'- CACATCTTTTGAAGTCATGTGATAGC -3'
(R):5'- AGGGTTCCCAGATGTTTTTCTTC -3'

Posted On

2016-06-15