Incidental Mutation 'R0009:Plpp2'
ID 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 10
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

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

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

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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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

Sequencing Primer
Posted On 2013-05-23