Incidental Mutation 'IGL02068:Plppr4'
ID 185726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plppr4
Ensembl Gene ENSMUSG00000044667
Gene Name phospholipid phosphatase related 4
Synonyms D3Bwg0562e, PRG-1, Lppr4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02068
Quality Score
Status
Chromosome 3
Chromosomal Location 117112794-117154525 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 117125433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061071] [ENSMUST00000197743]
AlphaFold Q7TME0
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: 68,814,558 (GRCm39) I140F probably benign Het
Cfap58 T C 19: 47,974,951 (GRCm39) L704P probably damaging Het
Cnnm2 T C 19: 46,865,827 (GRCm39) V805A possibly damaging Het
Dnah9 T C 11: 65,951,871 (GRCm39) E1876G probably damaging Het
Dock1 A T 7: 134,373,277 (GRCm39) E548V probably benign Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Esm1 T G 13: 113,346,630 (GRCm39) F85C probably damaging Het
Fcer1a C T 1: 173,053,071 (GRCm39) G42R probably damaging Het
Fcer1g A T 1: 171,058,760 (GRCm39) Y43N probably damaging Het
Grik1 G T 16: 87,737,539 (GRCm39) T585K possibly damaging Het
Hnf4g T C 3: 3,709,636 (GRCm39) I184T probably benign Het
Hsd11b1 G A 1: 192,904,354 (GRCm39) R282* probably null Het
Lig1 T A 7: 13,026,377 (GRCm39) probably benign Het
Or13l2 T C 3: 97,318,222 (GRCm39) K92E possibly damaging Het
Phip A G 9: 82,827,861 (GRCm39) S184P probably damaging Het
Pkhd1 C T 1: 20,592,971 (GRCm39) G1714D probably damaging Het
Prdm10 G A 9: 31,248,646 (GRCm39) R356Q probably damaging Het
Rasgrp1 C T 2: 117,131,059 (GRCm39) probably benign Het
Rpap1 C T 2: 119,613,135 (GRCm39) E138K probably benign Het
Sidt2 A C 9: 45,856,962 (GRCm39) probably null Het
Slc28a3 A G 13: 58,706,411 (GRCm39) L610P probably damaging Het
Slc39a10 T C 1: 46,858,599 (GRCm39) probably benign Het
Snx18 G A 13: 113,753,601 (GRCm39) A444V probably damaging Het
Svil A G 18: 5,092,899 (GRCm39) E1459G probably damaging Het
Tbc1d9 T C 8: 83,966,497 (GRCm39) L366P probably damaging Het
Tbk1 A T 10: 121,406,694 (GRCm39) H181Q probably damaging Het
Wrn C A 8: 33,800,777 (GRCm39) G612V probably benign Het
Xdh A G 17: 74,220,945 (GRCm39) Y595H probably damaging Het
Other mutations in Plppr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Plppr4 APN 3 117,115,869 (GRCm39) missense probably benign 0.01
IGL01969:Plppr4 APN 3 117,122,008 (GRCm39) missense probably damaging 1.00
IGL02014:Plppr4 APN 3 117,129,222 (GRCm39) missense probably damaging 1.00
IGL02426:Plppr4 APN 3 117,115,944 (GRCm39) missense probably benign 0.01
IGL03203:Plppr4 APN 3 117,119,540 (GRCm39) missense possibly damaging 0.89
PIT4445001:Plppr4 UTSW 3 117,153,957 (GRCm39) unclassified probably benign
R0376:Plppr4 UTSW 3 117,116,740 (GRCm39) missense probably benign 0.05
R0755:Plppr4 UTSW 3 117,116,319 (GRCm39) missense possibly damaging 0.68
R0831:Plppr4 UTSW 3 117,125,295 (GRCm39) critical splice donor site probably null
R1518:Plppr4 UTSW 3 117,129,152 (GRCm39) missense probably damaging 1.00
R1523:Plppr4 UTSW 3 117,116,490 (GRCm39) missense probably damaging 1.00
R1581:Plppr4 UTSW 3 117,121,915 (GRCm39) missense possibly damaging 0.58
R1628:Plppr4 UTSW 3 117,121,921 (GRCm39) missense probably damaging 1.00
R2510:Plppr4 UTSW 3 117,125,355 (GRCm39) missense probably damaging 0.99
R2511:Plppr4 UTSW 3 117,125,355 (GRCm39) missense probably damaging 0.99
R4332:Plppr4 UTSW 3 117,116,474 (GRCm39) missense probably benign
R4380:Plppr4 UTSW 3 117,116,046 (GRCm39) missense probably benign 0.40
R4787:Plppr4 UTSW 3 117,115,979 (GRCm39) missense probably damaging 0.99
R4829:Plppr4 UTSW 3 117,129,240 (GRCm39) missense possibly damaging 0.94
R5511:Plppr4 UTSW 3 117,119,551 (GRCm39) missense probably benign 0.39
R5819:Plppr4 UTSW 3 117,119,513 (GRCm39) missense possibly damaging 0.89
R6149:Plppr4 UTSW 3 117,116,043 (GRCm39) missense probably benign 0.22
R6257:Plppr4 UTSW 3 117,116,228 (GRCm39) missense possibly damaging 0.49
R6974:Plppr4 UTSW 3 117,116,667 (GRCm39) missense probably damaging 1.00
R7045:Plppr4 UTSW 3 117,153,683 (GRCm39) missense probably damaging 1.00
R7102:Plppr4 UTSW 3 117,116,832 (GRCm39) missense probably damaging 0.98
R7507:Plppr4 UTSW 3 117,115,754 (GRCm39) missense possibly damaging 0.76
R7820:Plppr4 UTSW 3 117,115,598 (GRCm39) missense possibly damaging 0.88
R8179:Plppr4 UTSW 3 117,125,327 (GRCm39) missense probably damaging 1.00
R8181:Plppr4 UTSW 3 117,116,114 (GRCm39) missense probably damaging 1.00
R8391:Plppr4 UTSW 3 117,129,060 (GRCm39) missense probably benign 0.02
R8531:Plppr4 UTSW 3 117,115,592 (GRCm39) missense probably damaging 1.00
R8762:Plppr4 UTSW 3 117,119,482 (GRCm39) missense probably damaging 1.00
R8784:Plppr4 UTSW 3 117,116,190 (GRCm39) nonsense probably null
R8933:Plppr4 UTSW 3 117,116,690 (GRCm39) missense probably damaging 1.00
R9251:Plppr4 UTSW 3 117,115,608 (GRCm39) missense probably benign 0.22
R9311:Plppr4 UTSW 3 117,119,518 (GRCm39) missense probably damaging 0.99
R9385:Plppr4 UTSW 3 117,116,377 (GRCm39) missense possibly damaging 0.94
R9474:Plppr4 UTSW 3 117,116,866 (GRCm39) missense probably damaging 1.00
R9612:Plppr4 UTSW 3 117,115,610 (GRCm39) missense probably benign 0.07
R9709:Plppr4 UTSW 3 117,121,976 (GRCm39) missense possibly damaging 0.83
Z1176:Plppr4 UTSW 3 117,116,498 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07