|Institutional Source||Beutler Lab|
|Gene Name||phospholipid phosphatase related 1|
|Synonyms||PRG-3, E130309F12Rik, Lppr1|
|Is this an essential gene?||Possibly non essential (E-score: 0.263)|
|Stock #||R5064 (G1)|
|Chromosomal Location||49059273-49340259 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 49319974 bp|
|Amino Acid Change||Histidine to Leucine at position 200 (H200L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075966 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076670]|
|Predicted Effect||probably benign
AA Change: H200L
PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: H200L
|Meta Mutation Damage Score||0.28|
|Coding Region Coverage||
|Validation Efficiency||100% (44/44)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plppr1||
(F):5'- TTTGTAAACGCGGGGCAAG -3'
(R):5'- GGCTTATCAACAGTGTGATATGATG -3'
(F):5'- AGTCGTCACTGGTCACCTAAC -3'
(R):5'- CCTCTGATACATATGCAGCTGGAG -3'