Incidental Mutation 'R4400:Plpp2'
ID 326597
Institutional Source Beutler Lab
Gene Symbol Plpp2
Ensembl Gene ENSMUSG00000052151
Gene Name phospholipid phosphatase 2
Synonyms Lpp2, Ppap2c
MMRRC Submission 041131-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4400 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 79526430-79533796 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79527493 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 106 (V106A)
Ref Sequence ENSEMBL: ENSMUSP00000151683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063879] [ENSMUST00000165233] [ENSMUST00000166804] [ENSMUST00000218241]
AlphaFold Q9DAX2
Predicted Effect probably benign
Transcript: ENSMUST00000063879
AA Change: V224A

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000069670
Gene: ENSMUSG00000052151
AA Change: V224A

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: V168A

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133247
Gene: ENSMUSG00000052151
AA Change: V168A

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: V106A

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4b A G 8: 13,388,810 (GRCm38) F189L probably damaging Het
Atp8a1 A T 5: 67,764,878 (GRCm38) Y372N probably benign Het
Bves T C 10: 45,369,293 (GRCm38) V354A probably benign Het
Cd79b A T 11: 106,312,010 (GRCm38) Y195* probably null Het
Cog6 A C 3: 53,012,941 (GRCm38) D131E probably benign Het
Elp3 C T 14: 65,548,090 (GRCm38) E421K possibly damaging Het
Fbxw28 A T 9: 109,328,310 (GRCm38) F237Y probably damaging Het
Fezf1 T C 6: 23,247,710 (GRCm38) N122S probably benign Het
Galnt2 A G 8: 124,324,303 (GRCm38) K157E probably damaging Het
Git2 T C 5: 114,733,909 (GRCm38) E141G possibly damaging Het
Gm26888 T C 11: 119,154,027 (GRCm38) silent Het
Gnrhr T C 5: 86,182,249 (GRCm38) probably null Het
Hoxd13 A T 2: 74,670,015 (GRCm38) D300V probably damaging Het
Hspg2 G A 4: 137,548,122 (GRCm38) A2748T probably benign Het
Hyal2 A G 9: 107,570,853 (GRCm38) N235S probably damaging Het
Itgam T G 7: 128,081,658 (GRCm38) L253R probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 52,725,906 (GRCm38) 74 probably benign Het
Matr3 A T 18: 35,583,916 (GRCm38) K591N possibly damaging Het
Mep1a T A 17: 43,475,006 (GRCm38) I731F possibly damaging Het
Mkl1 G A 15: 81,020,923 (GRCm38) Q103* probably null Het
Muc5b A G 7: 141,861,387 (GRCm38) D2690G possibly damaging Het
Nlrc5 A G 8: 94,494,353 (GRCm38) Q1140R probably benign Het
Olfr205 C T 16: 59,328,598 (GRCm38) V304I probably benign Het
Olfr292 A G 7: 86,694,590 (GRCm38) I45V probably benign Het
Olfr711 A G 7: 106,972,002 (GRCm38) L114P probably damaging Het
Plcl1 T C 1: 55,715,577 (GRCm38) F1028L probably damaging Het
Prpf8 A G 11: 75,490,702 (GRCm38) T255A possibly damaging Het
Shoc2 A G 19: 54,031,229 (GRCm38) I568V probably benign Het
Spopl C T 2: 23,517,945 (GRCm38) V241M probably damaging Het
Ssrp1 A T 2: 85,037,941 (GRCm38) D9V probably damaging Het
Strn3 A T 12: 51,648,100 (GRCm38) D293E possibly damaging Het
Tbx3 G T 5: 119,680,571 (GRCm38) D404Y probably damaging Het
Tdrd7 T C 4: 46,005,540 (GRCm38) S416P possibly damaging Het
Trim60 G T 8: 65,001,212 (GRCm38) Y128* probably null Het
Tspoap1 T C 11: 87,775,603 (GRCm38) S947P probably damaging Het
Ttn A T 2: 76,782,395 (GRCm38) S17113R probably damaging Het
Ubqln1 T A 13: 58,193,388 (GRCm38) N183I probably damaging Het
Ubr4 A G 4: 139,461,856 (GRCm38) N3917D possibly damaging Het
Ucp2 A G 7: 100,499,350 (GRCm38) *310W probably null Het
Wdr76 A G 2: 121,528,833 (GRCm38) M218V probably damaging Het
Zranb3 A C 1: 127,956,655 (GRCm38) L998R possibly damaging Het
Zxdc G A 6: 90,369,810 (GRCm38) G51E 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
R0009:Plpp2 UTSW 10 79,527,244 (GRCm38) missense probably benign 0.01
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
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 2015-07-07