Mutagenetix > Incidental Mutation

Incidental Mutation 'R0056:Plpp2'

18430

Institutional Source

Beutler Lab

Gene Symbol

Plpp2

Ensembl Gene

ENSMUSG00000052151

Gene Name

phospholipid phosphatase 2

Synonyms

Lpp2, Ppap2c

MMRRC Submission

038350-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0056 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

79362258-79369621 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79363063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 189 (F189S)

Ref Sequence

ENSEMBL: ENSMUSP00000133247 (fasta)

Gene Model

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

AlphaFold

Q9DAX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000063879
AA Change: F245S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069670
Gene: ENSMUSG00000052151
AA Change: F245S

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 damaging
Transcript: ENSMUST00000166804
AA Change: F189S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133247
Gene: ENSMUSG00000052151
AA Change: F189S

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

possibly damaging
Transcript: ENSMUST00000218241
AA Change: F127S

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.7780

Coding Region Coverage

1x: 89.2%
3x: 86.3%
10x: 78.7%
20x: 65.9%

Validation Efficiency

89% (66/74)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	T	8: 44,078,540 (GRCm39)	C561*	probably null	Het
Ankfn1	A	G	11: 89,282,502 (GRCm39)	S1061P	possibly damaging	Het
Atp9b	A	G	18: 80,809,018 (GRCm39)	S634P	probably damaging	Het
Bche	A	T	3: 73,608,654 (GRCm39)	N257K	possibly damaging	Het
Bms1	A	T	6: 118,382,190 (GRCm39)	D449E	probably benign	Het
C630050I24Rik	G	T	8: 107,846,026 (GRCm39)	V59F	unknown	Het
Camkk2	C	T	5: 122,880,261 (GRCm39)	E452K	probably damaging	Het
Ccdc121rt1	T	C	1: 181,338,118 (GRCm39)	Y278C	probably damaging	Het
Chd9	A	G	8: 91,660,165 (GRCm39)	H375R	possibly damaging	Het
Entpd7	T	A	19: 43,713,733 (GRCm39)	V364E	probably benign	Het
Epb41l3	A	T	17: 69,560,392 (GRCm39)	D313V	probably damaging	Het
Etv6	G	T	6: 134,225,497 (GRCm39)	E154*	probably null	Het
Fshr	T	G	17: 89,295,885 (GRCm39)	H274P	probably damaging	Het
G3bp1	A	G	11: 55,388,867 (GRCm39)	N360D	probably benign	Het
Gdf11	C	T	10: 128,722,294 (GRCm39)	R187H	probably benign	Het
Gpihbp1	T	A	15: 75,468,982 (GRCm39)	I52N	probably damaging	Het
H1f8	G	T	6: 115,923,934 (GRCm39)		probably benign	Het
Htt	T	C	5: 34,983,422 (GRCm39)		probably benign	Het
Iqcm	A	G	8: 76,480,014 (GRCm39)	Q324R	probably benign	Het
Kcng3	A	G	17: 83,895,185 (GRCm39)	L427P	probably damaging	Het
Klk7	T	C	7: 43,461,434 (GRCm39)	L17P	possibly damaging	Het
Klrd1	G	A	6: 129,570,738 (GRCm39)	V50I	probably benign	Het
Lama5	A	T	2: 179,828,899 (GRCm39)		probably benign	Het
Lamtor3	T	A	3: 137,632,711 (GRCm39)		probably benign	Het
Lyplal1	G	A	1: 185,820,763 (GRCm39)	T228I	probably benign	Het
Mapk6	A	G	9: 75,296,098 (GRCm39)	Y467H	possibly damaging	Het
Marchf6	T	C	15: 31,467,880 (GRCm39)	T776A	possibly damaging	Het
Mogat1	T	G	1: 78,500,407 (GRCm39)	M157R	probably damaging	Het
Morc2b	T	A	17: 33,357,733 (GRCm39)	Q13L	possibly damaging	Het
Myo1h	C	T	5: 114,468,273 (GRCm39)	T356I	probably damaging	Het
Ncoa2	C	A	1: 117,516,497 (GRCm38)		probably null	Het
Nobox	A	G	6: 43,281,853 (GRCm39)	C407R	probably benign	Het
Nup58	A	G	14: 60,476,924 (GRCm39)		probably null	Het
Or56a4	A	G	7: 104,806,329 (GRCm39)	S187P	probably benign	Het
Otoa	A	G	7: 120,730,570 (GRCm39)	Y590C	probably benign	Het
Pelp1	A	T	11: 70,284,658 (GRCm39)	V1070E	unknown	Het
Pglyrp3	G	T	3: 91,933,111 (GRCm39)		probably benign	Het
Polr2b	T	C	5: 77,482,382 (GRCm39)	I640T	possibly damaging	Het
Ryr2	T	A	13: 11,683,924 (GRCm39)	T3047S	probably damaging	Het
Snx25	A	T	8: 46,491,550 (GRCm39)	W847R	probably damaging	Het
Son	T	C	16: 91,475,043 (GRCm39)	Y454H	possibly damaging	Het
Sos1	A	T	17: 80,721,050 (GRCm39)	N923K	probably damaging	Het
Tex15	A	G	8: 34,072,055 (GRCm39)	H2534R	probably benign	Het
Ticam2	G	T	18: 46,693,401 (GRCm39)	Q229K	possibly damaging	Het
Tnfaip3	A	T	10: 18,881,041 (GRCm39)	V342E	probably damaging	Het
Traf6	A	G	2: 101,527,496 (GRCm39)	I415M	possibly damaging	Het
Trpm1	A	G	7: 63,893,334 (GRCm39)	D1062G	probably damaging	Het
Wdr59	C	T	8: 112,207,239 (GRCm39)		probably benign	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
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
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

Posted On

2013-03-25