Incidental Mutation 'R0757:Plppr5'
ID 69479
Institutional Source Beutler Lab
Gene Symbol Plppr5
Ensembl Gene ENSMUSG00000033342
Gene Name phospholipid phosphatase related 5
Synonyms Lppr5, 4833424O15Rik
MMRRC Submission 038937-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R0757 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 117368274-117483157 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 117369540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 66 (V66M)
Ref Sequence ENSEMBL: ENSMUSP00000102081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039564] [ENSMUST00000106473]
AlphaFold Q8BJ52
Predicted Effect probably benign
Transcript: ENSMUST00000039564
AA Change: V66M

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000045121
Gene: ENSMUSG00000033342
AA Change: V66M

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
acidPPc 123 267 8.27e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106473
AA Change: V66M

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102081
Gene: ENSMUSG00000033342
AA Change: V66M

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
acidPPc 123 267 8.27e-20 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.4%
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 type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. 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. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Psmg2 CTTCAGTT CTTCAGTTCAGTT 18: 67,779,095 (GRCm39) probably null Het
Scrib TCTCCTCCTCCTCCTCCTC TCTCCTCCTCCTCCTC 15: 75,934,599 (GRCm39) probably benign Het
Tll2 G A 19: 41,108,667 (GRCm39) R328C probably damaging Het
Other mutations in Plppr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Plppr5 APN 3 117,465,592 (GRCm39) missense possibly damaging 0.46
IGL01081:Plppr5 APN 3 117,480,298 (GRCm39) utr 3 prime probably benign
IGL01315:Plppr5 APN 3 117,456,175 (GRCm39) missense probably damaging 1.00
IGL02802:Plppr5 UTSW 3 117,456,228 (GRCm39) missense probably damaging 1.00
R0044:Plppr5 UTSW 3 117,465,538 (GRCm39) splice site probably null
R0044:Plppr5 UTSW 3 117,465,538 (GRCm39) splice site probably null
R0332:Plppr5 UTSW 3 117,465,581 (GRCm39) missense probably benign 0.05
R1101:Plppr5 UTSW 3 117,456,172 (GRCm39) missense probably damaging 0.99
R1354:Plppr5 UTSW 3 117,369,496 (GRCm39) missense possibly damaging 0.94
R1498:Plppr5 UTSW 3 117,456,261 (GRCm39) missense probably damaging 0.97
R1967:Plppr5 UTSW 3 117,419,555 (GRCm39) critical splice donor site probably null
R2090:Plppr5 UTSW 3 117,369,520 (GRCm39) missense possibly damaging 0.63
R4661:Plppr5 UTSW 3 117,414,618 (GRCm39) missense probably damaging 1.00
R5143:Plppr5 UTSW 3 117,419,552 (GRCm39) missense probably benign
R5441:Plppr5 UTSW 3 117,456,120 (GRCm39) missense possibly damaging 0.94
R5722:Plppr5 UTSW 3 117,414,714 (GRCm39) missense probably benign 0.00
R6560:Plppr5 UTSW 3 117,465,639 (GRCm39) missense probably benign 0.09
R7221:Plppr5 UTSW 3 117,414,618 (GRCm39) missense probably damaging 1.00
R8556:Plppr5 UTSW 3 117,465,679 (GRCm39) missense probably benign
R8925:Plppr5 UTSW 3 117,369,532 (GRCm39) missense probably benign 0.41
R8927:Plppr5 UTSW 3 117,369,532 (GRCm39) missense probably benign 0.41
R9015:Plppr5 UTSW 3 117,456,103 (GRCm39) missense probably damaging 1.00
Z1177:Plppr5 UTSW 3 117,419,428 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTGCTCCAGCTATACAACATCCG -3'
(R):5'- GGACTGCCACCAAGTTAGAGGAAC -3'

Sequencing Primer
(F):5'- Tcctccgcctctgcctc -3'
(R):5'- CCACCAAGTTAGAGGAACTTAGATG -3'
Posted On 2013-09-30