Incidental Mutation 'IGL00391:Plppr5'
ID6766
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plppr5
Ensembl Gene ENSMUSG00000033342
Gene Namephospholipid phosphatase related 5
Synonyms4833424O15Rik, Lppr5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL00391
Quality Score
Status
Chromosome3
Chromosomal Location117574836-117689507 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 117671943 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 281 (N281I)
Ref Sequence ENSEMBL: ENSMUSP00000102081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039564] [ENSMUST00000106473]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039564
AA Change: N281I

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045121
Gene: ENSMUSG00000033342
AA Change: N281I

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 possibly damaging
Transcript: ENSMUST00000106473
AA Change: N281I

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102081
Gene: ENSMUSG00000033342
AA Change: N281I

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
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 G A 5: 81,724,224 V990M probably damaging Het
Ap4b1 A G 3: 103,821,542 T499A probably benign Het
Cacna2d4 T C 6: 119,337,933 probably benign Het
Ccr5 T A 9: 124,124,406 D15E possibly damaging Het
Clca4b A G 3: 144,915,561 V584A possibly damaging Het
Cmtr1 T C 17: 29,674,262 M85T probably damaging Het
Col6a3 T A 1: 90,828,255 H104L probably damaging Het
Coq9 A T 8: 94,850,517 K170M probably damaging Het
Elmod1 A G 9: 53,924,398 probably null Het
Fam47e A C 5: 92,579,663 E143D probably damaging Het
Faxc A G 4: 21,948,725 K146E probably damaging Het
Gm5346 A T 8: 43,625,629 F519L probably damaging Het
Hrasls5 A T 19: 7,619,266 probably benign Het
Myo7b A C 18: 32,021,556 probably benign Het
Nmur1 G A 1: 86,386,471 R381C probably damaging Het
Nsd2 T G 5: 33,855,733 D469E probably damaging Het
Osbpl6 G A 2: 76,590,439 C786Y probably damaging Het
Osgin2 T C 4: 16,006,439 Y85C probably damaging Het
Otof A G 5: 30,375,623 C1587R probably damaging Het
Plekha2 A G 8: 25,057,327 V247A probably damaging Het
Popdc3 A G 10: 45,317,826 probably null Het
Ppp1r12a A G 10: 108,198,848 N85D probably damaging Het
Serpinb8 A G 1: 107,606,984 S262G probably benign Het
Sspo G A 6: 48,497,386 G4780R probably damaging Het
Ush2a A G 1: 188,916,061 E4621G probably damaging Het
Other mutations in Plppr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Plppr5 APN 3 117686649 utr 3 prime probably benign
IGL01315:Plppr5 APN 3 117662526 missense probably damaging 1.00
IGL02802:Plppr5 UTSW 3 117662579 missense probably damaging 1.00
R0044:Plppr5 UTSW 3 117671889 splice site probably null
R0044:Plppr5 UTSW 3 117671889 splice site probably null
R0332:Plppr5 UTSW 3 117671932 missense probably benign 0.05
R0757:Plppr5 UTSW 3 117575891 missense probably benign 0.16
R1101:Plppr5 UTSW 3 117662523 missense probably damaging 0.99
R1354:Plppr5 UTSW 3 117575847 missense possibly damaging 0.94
R1498:Plppr5 UTSW 3 117662612 missense probably damaging 0.97
R1967:Plppr5 UTSW 3 117625906 critical splice donor site probably null
R2090:Plppr5 UTSW 3 117575871 missense possibly damaging 0.63
R4661:Plppr5 UTSW 3 117620969 missense probably damaging 1.00
R5143:Plppr5 UTSW 3 117625903 missense probably benign
R5441:Plppr5 UTSW 3 117662471 missense possibly damaging 0.94
R5722:Plppr5 UTSW 3 117621065 missense probably benign 0.00
R6560:Plppr5 UTSW 3 117671990 missense probably benign 0.09
R7221:Plppr5 UTSW 3 117620969 missense probably damaging 1.00
Z1177:Plppr5 UTSW 3 117625779 missense probably damaging 0.99
Posted On2012-04-20