Incidental Mutation 'R8201:Plpp3'
ID 635667
Institutional Source Beutler Lab
Gene Symbol Plpp3
Ensembl Gene ENSMUSG00000028517
Gene Name phospholipid phosphatase 3
Synonyms Lpp3, D4Bwg0538e, 1110003O22Rik, D4Bwg1535e, PRG-2, Ppap2b
MMRRC Submission 067624-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8201 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 105014544-105089961 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 105076555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 223 (G223W)
Ref Sequence ENSEMBL: ENSMUSP00000065719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064139]
AlphaFold Q99JY8
Predicted Effect probably damaging
Transcript: ENSMUST00000064139
AA Change: G223W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000065719
Gene: ENSMUSG00000028517
AA Change: G223W

DomainStartEndE-ValueType
low complexity region 86 101 N/A INTRINSIC
acidPPc 131 272 1.47e-57 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is a membrane glycoprotein localized at the cell plasma membrane. It has been shown to actively hydrolyze extracellular lysophosphatidic acid and short-chain phosphatidic acid. The expression of this gene is found to be enhanced by epidermal growth factor in Hela cells. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous mutant mice do not survive past E10.5 and show defects in extraembryonic vasculogenesis and axis patterning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,195,046 (GRCm39) E543G probably benign Het
2210408I21Rik T A 13: 77,341,278 (GRCm39) N302K possibly damaging Het
Apbb2 T C 5: 66,466,458 (GRCm39) N609S probably benign Het
Atp10a G T 7: 58,469,424 (GRCm39) G1092* probably null Het
Ccdc150 A G 1: 54,368,646 (GRCm39) N618S probably benign Het
Cct4 T A 11: 22,949,115 (GRCm39) V287E probably damaging Het
Cyp2j7 A T 4: 96,083,564 (GRCm39) I462N probably damaging Het
Dnajc6 C T 4: 101,475,960 (GRCm39) A611V probably benign Het
Dusp10 C A 1: 183,769,202 (GRCm39) A56E possibly damaging Het
Entrep3 T C 3: 89,093,115 (GRCm39) V291A probably damaging Het
Fat3 A C 9: 15,908,773 (GRCm39) C2410G possibly damaging Het
Fcgrt T A 7: 44,744,634 (GRCm39) Q274L possibly damaging Het
Fdxacb1 G T 9: 50,681,455 (GRCm39) probably benign Het
Fubp1 T A 3: 151,927,823 (GRCm39) I424N probably damaging Het
Gm5114 T A 7: 39,060,373 (GRCm39) T159S probably damaging Het
Gm7168 T C 17: 14,170,042 (GRCm39) C470R probably benign Het
Hebp1 A G 6: 135,114,906 (GRCm39) V185A possibly damaging Het
Il18rap G T 1: 40,578,429 (GRCm39) R280I possibly damaging Het
Mamdc4 T C 2: 25,456,093 (GRCm39) N771S probably damaging Het
Ndufaf4 A G 4: 24,898,197 (GRCm39) N11D possibly damaging Het
Nkiras1 T C 14: 18,276,908 (GRCm38) probably benign Het
Noct T C 3: 51,155,444 (GRCm39) S135P probably benign Het
Or1e23 T A 11: 73,407,899 (GRCm39) N42I probably damaging Het
Or2t48 A T 11: 58,419,865 (GRCm39) *316R noncoding transcript Het
Or2w3b A C 11: 58,623,940 (GRCm39) F17C probably damaging Het
Or7e177 G T 9: 20,212,317 (GRCm39) G271C probably damaging Het
Or7e178 T C 9: 20,225,908 (GRCm39) M103V probably benign Het
Pcdhac1 A T 18: 37,223,892 (GRCm39) H235L probably benign Het
Pcdhb22 G T 18: 37,651,518 (GRCm39) probably benign Het
Pdlim1 A T 19: 40,218,958 (GRCm39) D224E probably benign Het
Rcan3 A G 4: 135,147,684 (GRCm39) F81S probably damaging Het
Sel1l2 A C 2: 140,108,312 (GRCm39) Y191D probably damaging Het
Supt16 A G 14: 52,408,447 (GRCm39) F833L probably damaging Het
Tchh T C 3: 93,350,781 (GRCm39) F74L probably damaging Het
Tgfbr3 T C 5: 107,278,431 (GRCm39) D725G probably benign Het
Tmem14c C T 13: 41,171,186 (GRCm39) P10S probably benign Het
Ubb G A 11: 62,443,053 (GRCm39) A28T probably benign Het
Vars2 A T 17: 35,969,202 (GRCm39) V833E probably benign Het
Zfyve9 T C 4: 108,507,474 (GRCm39) D528G possibly damaging Het
Other mutations in Plpp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02972:Plpp3 APN 4 105,065,989 (GRCm39) missense possibly damaging 0.61
R1681:Plpp3 UTSW 4 105,066,002 (GRCm39) critical splice donor site probably null
R4827:Plpp3 UTSW 4 105,088,167 (GRCm39) missense probably benign 0.04
R5093:Plpp3 UTSW 4 105,052,077 (GRCm39) missense probably damaging 0.99
R5869:Plpp3 UTSW 4 105,052,159 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGATCAGCATTTCCCCATGGG -3'
(R):5'- AACAGGCATCAGTTCAGGG -3'

Sequencing Primer
(F):5'- ATGGGGCATCGTGTCCG -3'
(R):5'- CTCTGTATGAGTGCCAAGGAC -3'
Posted On 2020-07-13