|Institutional Source||Beutler Lab|
|Gene Name||phospholipid phosphatase 3|
|Synonyms||Lpp3, Ppap2b, D4Bwg1535e, 1110003O22Rik, D4Bwg0538e|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8201 (G1)|
|Chromosomal Location||105157347-105232764 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 105219358 bp|
|Amino Acid Change||Glycine to Tryptophan at position 223 (G223W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065719 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000064139]|
|Predicted Effect||probably damaging
AA Change: G223W
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: G223W
|Coding Region Coverage||
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||
|Other mutations in Plpp3||
(F):5'- AGATCAGCATTTCCCCATGGG -3'
(R):5'- AACAGGCATCAGTTCAGGG -3'
(F):5'- ATGGGGCATCGTGTCCG -3'
(R):5'- CTCTGTATGAGTGCCAAGGAC -3'