Incidental Mutation 'R4521:Plpp2'
ID 334231
Institutional Source Beutler Lab
Gene Symbol Plpp2
Ensembl Gene ENSMUSG00000052151
Gene Name phospholipid phosphatase 2
Synonyms Lpp2, Ppap2c
MMRRC Submission 041764-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4521 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 79362258-79369621 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79366459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 118 (Y118H)
Ref Sequence ENSEMBL: ENSMUSP00000069670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063879] [ENSMUST00000165233] [ENSMUST00000166804] [ENSMUST00000218241]
AlphaFold Q9DAX2
Predicted Effect probably damaging
Transcript: ENSMUST00000063879
AA Change: Y118H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069670
Gene: ENSMUSG00000052151
AA Change: Y118H

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 unknown
Transcript: ENSMUST00000165233
AA Change: V67A
SMART Domains Protein: ENSMUSP00000127000
Gene: ENSMUSG00000052151
AA Change: V67A

signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166804
AA Change: Y62H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133247
Gene: ENSMUSG00000052151
AA Change: Y62H

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
Meta Mutation Damage Score 0.8538 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (49/49)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,536,766 (GRCm39) N700D probably benign Het
Bora G T 14: 99,305,984 (GRCm39) S451I probably damaging Het
Cadm3 A T 1: 173,172,630 (GRCm39) probably null Het
Car14 A G 3: 95,811,690 (GRCm39) probably benign Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cdc20b A G 13: 113,217,725 (GRCm39) I381M probably damaging Het
Col12a1 C T 9: 79,540,639 (GRCm39) V2449I probably benign Het
Crb2 T C 2: 37,685,349 (GRCm39) probably benign Het
Dcaf6 A T 1: 165,218,059 (GRCm39) D347E probably damaging Het
Dlgap2 G A 8: 14,777,871 (GRCm39) R372H probably damaging Het
Fat3 T C 9: 15,834,238 (GRCm39) N4118S probably null Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Fpr2 A C 17: 18,113,509 (GRCm39) R168S probably benign Het
Ghr A G 15: 3,355,440 (GRCm39) I281T probably damaging Het
Glmp C A 3: 88,235,346 (GRCm39) N259K possibly damaging Het
Grhl3 T C 4: 135,273,561 (GRCm39) K564E probably damaging Het
Helz2 T C 2: 180,870,626 (GRCm39) H2875R probably benign Het
Lcp1 A G 14: 75,452,608 (GRCm39) D438G possibly damaging Het
Lrfn2 T A 17: 49,376,922 (GRCm39) M1K probably null Het
Lrp6 A G 6: 134,462,825 (GRCm39) C612R probably damaging Het
Map3k13 T C 16: 21,724,525 (GRCm39) V341A possibly damaging Het
Megf8 T A 7: 25,042,126 (GRCm39) C1315S probably benign Het
Mrgpra9 A T 7: 46,884,938 (GRCm39) L243H probably damaging Het
Mrgprx1 T C 7: 47,671,447 (GRCm39) D100G probably benign Het
Nop2 G T 6: 125,110,515 (GRCm39) R47L probably damaging Het
Nup93 T C 8: 95,041,264 (GRCm39) Y801H probably damaging Het
Or51b6b C T 7: 103,309,539 (GRCm39) R306H probably benign Het
Or6c69b T A 10: 129,627,050 (GRCm39) N136I possibly damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Plce1 T C 19: 38,512,763 (GRCm39) S21P possibly damaging Het
Ppwd1 A G 13: 104,346,167 (GRCm39) V496A probably benign Het
Rbm20 A G 19: 53,805,633 (GRCm39) N466S probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Skida1 T C 2: 18,050,683 (GRCm39) probably benign Het
Stk17b A G 1: 53,803,197 (GRCm39) Y73H probably damaging Het
Tapbpl A G 6: 125,205,085 (GRCm39) I287T probably damaging Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Topbp1 T C 9: 103,211,401 (GRCm39) probably benign Het
Tsen54 G A 11: 115,707,932 (GRCm39) probably null Het
Ttn G A 2: 76,555,560 (GRCm39) R28736* probably null Het
Wdr36 G A 18: 32,974,201 (GRCm39) probably null 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-08-18