Mutagenetix > Incidental Mutation

Incidental Mutation 'R0009:Plpp2'

40483

Institutional Source

Beutler Lab

Gene Symbol

Plpp2

Ensembl Gene

ENSMUSG00000052151

Gene Name

phospholipid phosphatase 2

Synonyms

Lpp2, Ppap2c

MMRRC Submission

038304-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0009 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

79526430-79533796 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79527244 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 184 (R184H)

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: R240H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000069670
Gene: ENSMUSG00000052151
AA Change: R240H

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: R184H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000133247
Gene: ENSMUSG00000052151
AA Change: R184H

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: R122H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (68/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,919,633 (GRCm38)		probably benign	Het
Abcg4	T	G	9: 44,277,649 (GRCm38)		probably benign	Het
Afm	C	A	5: 90,545,384 (GRCm38)		probably benign	Het
Ahrr	G	A	13: 74,283,024 (GRCm38)		probably benign	Het
Aplnr	T	A	2: 85,137,276 (GRCm38)		probably null	Het
Arih2	T	A	9: 108,611,727 (GRCm38)	H264L	probably damaging	Het
Atp1a1	A	T	3: 101,579,835 (GRCm38)	I886N	possibly damaging	Het
Bmf	A	T	2: 118,549,622 (GRCm38)	V14E	probably damaging	Het
Ccdc116	T	C	16: 17,144,039 (GRCm38)	E15G	probably damaging	Het
Ccdc175	T	C	12: 72,135,965 (GRCm38)	N427D	possibly damaging	Het
Cfap53	A	G	18: 74,299,176 (GRCm38)	H45R	probably benign	Het
Chd3	A	G	11: 69,349,906 (GRCm38)	L1569P	probably damaging	Het
Cntn2	G	A	1: 132,516,180 (GRCm38)	Q457*	probably null	Het
Coro1a	A	T	7: 126,701,413 (GRCm38)		probably benign	Het
Cracr2b	T	A	7: 141,463,759 (GRCm38)	L91Q	probably damaging	Het
Ctdspl	T	C	9: 119,020,046 (GRCm38)		probably null	Het
Dip2b	T	A	15: 100,169,312 (GRCm38)	L565Q	probably damaging	Het
Dip2c	T	A	13: 9,621,903 (GRCm38)	C1004S	probably damaging	Het
Dnah11	A	T	12: 118,045,522 (GRCm38)	I2135N	possibly damaging	Het
Dnah14	A	G	1: 181,769,407 (GRCm38)		probably benign	Het
Dnase1	T	C	16: 4,038,946 (GRCm38)	V147A	probably damaging	Het
Dusp8	T	C	7: 142,082,054 (GRCm38)		probably benign	Het
Fer1l6	T	C	15: 58,662,787 (GRCm38)	Y1828H	probably damaging	Het
Flvcr1	A	G	1: 191,008,191 (GRCm38)	V544A	probably benign	Het
Fsd1l	T	C	4: 53,687,209 (GRCm38)	V311A	probably benign	Het
Glud1	G	A	14: 34,334,268 (GRCm38)	G300S	probably benign	Het
Gm4847	C	T	1: 166,630,486 (GRCm38)	V433I	probably benign	Het
Gstm3	T	G	3: 107,967,840 (GRCm38)	Y62S	probably damaging	Het
Gtse1	C	T	15: 85,862,435 (GRCm38)	P151S	probably benign	Het
Herc2	T	C	7: 56,207,812 (GRCm38)	S4048P	probably benign	Het
Hp1bp3	T	A	4: 138,221,683 (GRCm38)	I19K	probably benign	Het
Htr7	C	A	19: 36,041,540 (GRCm38)		probably benign	Het
Il1a	C	T	2: 129,309,074 (GRCm38)	D10N	probably damaging	Het
Il22ra2	A	T	10: 19,624,458 (GRCm38)	N39I	probably damaging	Het
Kcnn4	T	C	7: 24,379,255 (GRCm38)	C267R	possibly damaging	Het
Larp1	A	G	11: 58,055,473 (GRCm38)	K879R	possibly damaging	Het
Lcn5	T	A	2: 25,661,405 (GRCm38)		probably benign	Het
Lep	T	A	6: 29,068,972 (GRCm38)	C7*	probably null	Het
Magi2	A	T	5: 20,611,055 (GRCm38)	Y747F	probably benign	Het
Mast4	T	C	13: 102,742,058 (GRCm38)	T1223A	probably damaging	Het
Mcc	C	T	18: 44,445,933 (GRCm38)	E803K	probably damaging	Het
Mtmr4	T	C	11: 87,611,508 (GRCm38)	I796T	probably benign	Het
Myef2	A	T	2: 125,108,978 (GRCm38)	D312E	probably benign	Het
Myl3	A	C	9: 110,767,929 (GRCm38)	D119A	probably damaging	Het
Myo19	T	A	11: 84,888,169 (GRCm38)		probably null	Het
Naa15	T	G	3: 51,470,219 (GRCm38)	H763Q	probably damaging	Het
Pde5a	C	T	3: 122,824,902 (GRCm38)		probably benign	Het
Rab19	T	G	6: 39,389,687 (GRCm38)	L179V	probably damaging	Het
Rims2	T	A	15: 39,534,966 (GRCm38)	M1087K	probably damaging	Het
Riox2	C	A	16: 59,489,367 (GRCm38)	D361E	probably benign	Het
Sh3rf1	T	A	8: 61,226,293 (GRCm38)	V123E	probably damaging	Het
Slc35e1	A	T	8: 72,484,709 (GRCm38)	N318K	probably damaging	Het
Slc9a2	A	T	1: 40,763,602 (GRCm38)	E604V	probably benign	Het
Srp72	T	C	5: 76,987,885 (GRCm38)	S221P	probably damaging	Het
Tbx19	A	T	1: 165,160,520 (GRCm38)	S15T	possibly damaging	Het
Tcea2	A	G	2: 181,685,817 (GRCm38)	T112A	probably benign	Het
Tesk1	T	A	4: 43,445,368 (GRCm38)	D230E	probably damaging	Het
Tm4sf5	C	T	11: 70,510,712 (GRCm38)	A179V	probably damaging	Het
Tnr	G	T	1: 159,852,416 (GRCm38)	G320V	probably damaging	Het
Trappc11	A	T	8: 47,503,320 (GRCm38)	C874S	possibly damaging	Het
Trpm3	T	A	19: 22,914,446 (GRCm38)	Y885N	probably damaging	Het
Unc5a	T	A	13: 55,002,879 (GRCm38)	C505S	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717 (GRCm38)	A182T	probably benign	Het
Xpo5	T	C	17: 46,204,786 (GRCm38)		probably benign	Het
Zfp637	C	A	6: 117,845,668 (GRCm38)	H252Q	probably damaging	Het
Zfp646	T	A	7: 127,880,731 (GRCm38)	D693E	probably damaging	Het

Other mutations in Plpp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01321:Plpp2	APN	10	79,527,493 (GRCm38)	missense	probably damaging	1.00
IGL03327:Plpp2	APN	10	79,530,984 (GRCm38)	splice site	probably null
Trust	UTSW	10	79,530,929 (GRCm38)	missense	probably damaging	1.00
R0056:Plpp2	UTSW	10	79,527,229 (GRCm38)	missense	probably damaging	0.99
R0097:Plpp2	UTSW	10	79,530,537 (GRCm38)	missense	possibly damaging	0.50
R0311:Plpp2	UTSW	10	79,527,580 (GRCm38)	missense	probably damaging	0.97
R0840:Plpp2	UTSW	10	79,527,544 (GRCm38)	missense	probably benign	0.16
R1406:Plpp2	UTSW	10	79,530,777 (GRCm38)	splice site	probably benign
R1642:Plpp2	UTSW	10	79,530,684 (GRCm38)	missense	probably damaging	1.00
R3436:Plpp2	UTSW	10	79,527,813 (GRCm38)	critical splice donor site	probably null
R3437:Plpp2	UTSW	10	79,527,813 (GRCm38)	critical splice donor site	probably null
R4400:Plpp2	UTSW	10	79,527,493 (GRCm38)	missense	possibly damaging	0.88
R4521:Plpp2	UTSW	10	79,530,625 (GRCm38)	missense	probably damaging	1.00
R4873:Plpp2	UTSW	10	79,530,929 (GRCm38)	missense	probably damaging	1.00
R4875:Plpp2	UTSW	10	79,530,929 (GRCm38)	missense	probably damaging	1.00
R5114:Plpp2	UTSW	10	79,527,139 (GRCm38)	missense	probably benign	0.41
R6970:Plpp2	UTSW	10	79,530,546 (GRCm38)	missense	possibly damaging	0.90
R7383:Plpp2	UTSW	10	79,531,007 (GRCm38)	missense	probably null	0.99
R7902:Plpp2	UTSW	10	79,527,544 (GRCm38)	missense	possibly damaging	0.91
R7953:Plpp2	UTSW	10	79,530,540 (GRCm38)	missense	possibly damaging	0.89
R8237:Plpp2	UTSW	10	79,527,460 (GRCm38)	missense	possibly damaging	0.94
R9218:Plpp2	UTSW	10	79,530,667 (GRCm38)	missense	probably damaging	1.00
R9452:Plpp2	UTSW	10	79,527,868 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTTCCCAGCTTCCAAAGCAG -3'
(R):5'- TGTCTGACCACAAGCACCACTG -3'

Sequencing Primer
(F):5'- GCTTCCAAAGCAGGAAGAGAC -3'
(R):5'- ACCACTGGAGTGATGTCCTTG -3'

Posted On

2013-05-23