Incidental Mutation 'IGL02068:Plppr4'
ID185726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plppr4
Ensembl Gene ENSMUSG00000044667
Gene Namephospholipid phosphatase related 4
SynonymsLppr4, D3Bwg0562e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02068
Quality Score
Status
Chromosome3
Chromosomal Location117319139-117360876 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 117331784 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061071] [ENSMUST00000197743]
Predicted Effect probably benign
Transcript: ENSMUST00000061071
SMART Domains Protein: ENSMUSP00000052306
Gene: ENSMUSG00000044667

DomainStartEndE-ValueType
acidPPc 180 324 4.07e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125664
Predicted Effect probably benign
Transcript: ENSMUST00000197743
SMART Domains Protein: ENSMUSP00000143753
Gene: ENSMUSG00000044667

DomainStartEndE-ValueType
SCOP:d1d2ta_ 59 268 1e-7 SMART
Blast:acidPPc 180 265 8e-53 BLAST
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 belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a number of bioactive lipid mediators that regulate a variety of cell functions. This protein is specifically expressed in neurons. It is located in the membranes of outgrowing axons and has been shown to be important for axonal outgrowth during development and regenerative sprouting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight, seizures, hyperexcitability of evoked fEPSP, and premature lethality around 3 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T A 14: 68,577,109 I140F probably benign Het
Cfap58 T C 19: 47,986,512 L704P probably damaging Het
Cnnm2 T C 19: 46,877,388 V805A possibly damaging Het
Dnah9 T C 11: 66,061,045 E1876G probably damaging Het
Dock1 A T 7: 134,771,548 E548V probably benign Het
Esm1 T G 13: 113,210,096 F85C probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fcer1a C T 1: 173,225,504 G42R probably damaging Het
Fcer1g A T 1: 171,231,191 Y43N probably damaging Het
Grik1 G T 16: 87,940,651 T585K possibly damaging Het
Hnf4g T C 3: 3,644,576 I184T probably benign Het
Hsd11b1 G A 1: 193,222,046 R282* probably null Het
Lig1 T A 7: 13,292,451 probably benign Het
Olfr1402 T C 3: 97,410,906 K92E possibly damaging Het
Phip A G 9: 82,945,808 S184P probably damaging Het
Pkhd1 C T 1: 20,522,747 G1714D probably damaging Het
Prdm10 G A 9: 31,337,350 R356Q probably damaging Het
Rasgrp1 C T 2: 117,300,578 probably benign Het
Rpap1 C T 2: 119,782,654 E138K probably benign Het
Sidt2 A C 9: 45,945,664 probably null Het
Slc28a3 A G 13: 58,558,597 L610P probably damaging Het
Slc39a10 T C 1: 46,819,439 probably benign Het
Snx18 G A 13: 113,617,065 A444V probably damaging Het
Svil A G 18: 5,092,899 E1459G probably damaging Het
Tbc1d9 T C 8: 83,239,868 L366P probably damaging Het
Tbk1 A T 10: 121,570,789 H181Q probably damaging Het
Wrn C A 8: 33,310,749 G612V probably benign Het
Xdh A G 17: 73,913,950 Y595H probably damaging Het
Other mutations in Plppr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Plppr4 APN 3 117322220 missense probably benign 0.01
IGL01969:Plppr4 APN 3 117328359 missense probably damaging 1.00
IGL02014:Plppr4 APN 3 117335573 missense probably damaging 1.00
IGL02426:Plppr4 APN 3 117322295 missense probably benign 0.01
IGL03203:Plppr4 APN 3 117325891 missense possibly damaging 0.89
PIT4445001:Plppr4 UTSW 3 117360308 unclassified probably benign
R0376:Plppr4 UTSW 3 117323091 missense probably benign 0.05
R0755:Plppr4 UTSW 3 117322670 missense possibly damaging 0.68
R0831:Plppr4 UTSW 3 117331646 critical splice donor site probably null
R1518:Plppr4 UTSW 3 117335503 missense probably damaging 1.00
R1523:Plppr4 UTSW 3 117322841 missense probably damaging 1.00
R1581:Plppr4 UTSW 3 117328266 missense possibly damaging 0.58
R1628:Plppr4 UTSW 3 117328272 missense probably damaging 1.00
R2510:Plppr4 UTSW 3 117331706 missense probably damaging 0.99
R2511:Plppr4 UTSW 3 117331706 missense probably damaging 0.99
R4332:Plppr4 UTSW 3 117322825 missense probably benign
R4380:Plppr4 UTSW 3 117322397 missense probably benign 0.40
R4787:Plppr4 UTSW 3 117322330 missense probably damaging 0.99
R4829:Plppr4 UTSW 3 117335591 missense possibly damaging 0.94
R5511:Plppr4 UTSW 3 117325902 missense probably benign 0.39
R5819:Plppr4 UTSW 3 117325864 missense possibly damaging 0.89
R6149:Plppr4 UTSW 3 117322394 missense probably benign 0.22
R6257:Plppr4 UTSW 3 117322579 missense possibly damaging 0.49
R6974:Plppr4 UTSW 3 117323018 missense probably damaging 1.00
R7045:Plppr4 UTSW 3 117360034 missense probably damaging 1.00
R7102:Plppr4 UTSW 3 117323183 missense probably damaging 0.98
R7507:Plppr4 UTSW 3 117322105 missense possibly damaging 0.76
R7820:Plppr4 UTSW 3 117321949 missense possibly damaging 0.88
R8179:Plppr4 UTSW 3 117331678 missense probably damaging 1.00
R8181:Plppr4 UTSW 3 117322465 missense probably damaging 1.00
R8391:Plppr4 UTSW 3 117335411 missense probably benign 0.02
R8531:Plppr4 UTSW 3 117321943 missense probably damaging 1.00
R8762:Plppr4 UTSW 3 117325833 missense probably damaging 1.00
R8784:Plppr4 UTSW 3 117322541 nonsense probably null
R8933:Plppr4 UTSW 3 117323041 missense probably damaging 1.00
Z1176:Plppr4 UTSW 3 117322849 missense probably damaging 1.00
Posted On2014-05-07