Incidental Mutation 'R7953:Plpp2'
ID 649673
Institutional Source Beutler Lab
Gene Symbol Plpp2
Ensembl Gene ENSMUSG00000052151
Gene Name phospholipid phosphatase 2
Synonyms Lpp2, Ppap2c
MMRRC Submission 045997-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7953 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 79362258-79369621 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 79366374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 146 (L146R)
Ref Sequence ENSEMBL: ENSMUSP00000069670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063879] [ENSMUST00000165233] [ENSMUST00000166804] [ENSMUST00000218241]
AlphaFold Q9DAX2
Predicted Effect possibly damaging
Transcript: ENSMUST00000063879
AA Change: L146R

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069670
Gene: ENSMUSG00000052151
AA Change: L146R

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
Blast:acidPPc 21 70 6e-9 BLAST
acidPPc 99 239 1.42e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165233
SMART Domains Protein: ENSMUSP00000127000
Gene: ENSMUSG00000052151

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000166804
AA Change: L90R

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133247
Gene: ENSMUSG00000052151
AA Change: L90R

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
acidPPc 43 183 1.42e-41 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000218241
AA Change: L28R

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (46/46)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,450,896 (GRCm39) R120G probably null Het
Abcb9 T C 5: 124,211,665 (GRCm39) Y628C probably damaging Het
Adrm1b A T 3: 92,336,637 (GRCm39) Y22N probably benign Het
Alpk2 C T 18: 65,482,901 (GRCm39) C369Y probably damaging Het
Caskin1 T G 17: 24,723,195 (GRCm39) L661R probably damaging Het
Cep83 A C 10: 94,573,804 (GRCm39) N231T probably damaging Het
Cfap44 G A 16: 44,234,054 (GRCm39) G338D probably benign Het
Chrna7 T G 7: 62,753,541 (GRCm39) K326T possibly damaging Het
Col4a4 A G 1: 82,431,689 (GRCm39) S1532P unknown Het
Cplx4 A T 18: 66,090,190 (GRCm39) probably null Het
Csf1r G C 18: 61,257,947 (GRCm39) G639R probably damaging Het
Dnajc27 T C 12: 4,147,270 (GRCm39) L151P possibly damaging Het
Epha5 A G 5: 84,381,513 (GRCm39) V446A probably benign Het
Esam T C 9: 37,448,317 (GRCm39) V252A probably damaging Het
Flnc C A 6: 29,447,828 (GRCm39) D1210E probably damaging Het
Fmn1 G A 2: 113,426,689 (GRCm39) M1233I probably benign Het
Fstl4 T C 11: 52,891,050 (GRCm39) S63P probably benign Het
Gas2l2 A G 11: 83,314,070 (GRCm39) V414A possibly damaging Het
Glra1 G A 11: 55,424,688 (GRCm39) P174L probably damaging Het
Gm16485 A T 9: 8,972,196 (GRCm39) N21Y unknown Het
Golga7 A T 8: 23,746,731 (GRCm39) C24S possibly damaging Het
Ints8 T C 4: 11,227,128 (GRCm39) T582A probably benign Het
Irx2 A T 13: 72,777,343 (GRCm39) T55S probably benign Het
Lce1j A T 3: 92,696,390 (GRCm39) C129* probably null Het
Mettl25b T C 3: 87,834,955 (GRCm39) N115S possibly damaging Het
Mocs1 G A 17: 49,761,799 (GRCm39) G631E possibly damaging Het
Mpi A T 9: 57,457,881 (GRCm39) L107Q probably damaging Het
Msrb2 A G 2: 19,399,166 (GRCm39) *176W probably null Het
Myh13 T A 11: 67,231,206 (GRCm39) L401Q probably damaging Het
Npffr2 G A 5: 89,730,513 (GRCm39) V148I probably benign Het
Oas1a T C 5: 121,035,080 (GRCm39) E360G probably benign Het
Or4k15c A T 14: 50,321,367 (GRCm39) I257N possibly damaging Het
Or5b96 A C 19: 12,867,095 (GRCm39) V282G probably damaging Het
Or9g20 A T 2: 85,630,239 (GRCm39) I125N probably damaging Het
Pcdha2 A G 18: 37,072,579 (GRCm39) D70G probably benign Het
Phf11b T C 14: 59,568,722 (GRCm39) S64G probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Poc5 T A 13: 96,539,408 (GRCm39) N316K probably benign Het
Rad51ap2 A T 12: 11,512,593 (GRCm39) R947* probably null Het
Ralgapb A G 2: 158,307,803 (GRCm39) H1037R probably benign Het
Rpl21 T C 5: 146,772,702 (GRCm39) V141A probably benign Het
Rufy3 C A 5: 88,790,851 (GRCm39) D517E probably benign Het
Scn7a A G 2: 66,587,670 (GRCm39) V11A possibly damaging Het
Sipa1l1 A C 12: 82,496,700 (GRCm39) Q1744P probably damaging Het
Smc2 T C 4: 52,470,911 (GRCm39) probably null Het
Sorcs3 T A 19: 48,752,734 (GRCm39) L843Q possibly damaging Het
Strc A T 2: 121,207,844 (GRCm39) F509Y probably damaging Het
Tas2r117 A C 6: 132,780,281 (GRCm39) T140P probably damaging Het
Tnxb T A 17: 34,928,509 (GRCm39) I2641N possibly damaging Het
Tnxb C A 17: 34,929,077 (GRCm39) P2707T probably benign Het
Vmn1r4 T A 6: 56,933,515 (GRCm39) N6K probably benign Het
Vmn1r91 T A 7: 19,835,218 (GRCm39) S46T possibly damaging Het
Zfp750 T C 11: 121,402,706 (GRCm39) T681A probably benign Het
Other mutations in Plpp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GAGACTGTCCATTTGCATACCTG -3'
(R):5'- ACACAGACCGTCTTTATTCGC -3'

Sequencing Primer
(F):5'- TGCCCTGCCAAAGATGC -3'
(R):5'- TCCAACTTCAACAACTATGTAGCTG -3'
Posted On 2020-09-15