Incidental Mutation 'IGL02426:Plppr4'
ID 292910
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 # IGL02426
Quality Score
Status
Chromosome 3
Chromosomal Location 117112794-117154525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117115944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 638 (I638V)
Ref Sequence ENSEMBL: ENSMUSP00000052306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061071] [ENSMUST00000197743]
AlphaFold Q7TME0
Predicted Effect probably benign
Transcript: ENSMUST00000061071
AA Change: I638V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000052306
Gene: ENSMUSG00000044667
AA Change: I638V

DomainStartEndE-ValueType
acidPPc 180 324 4.07e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125664
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174925
Predicted Effect probably benign
Transcript: ENSMUST00000197743
AA Change: I580V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000143753
Gene: ENSMUSG00000044667
AA Change: I580V

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,157,675 (GRCm39) T1294M probably damaging Het
Bad A G 19: 6,928,785 (GRCm39) S128G probably damaging Het
Casp9 T G 4: 141,539,515 (GRCm39) probably null Het
Ccdc39 T C 3: 33,879,547 (GRCm39) K507R possibly damaging Het
Cep76 A G 18: 67,767,987 (GRCm39) S182P probably benign Het
Cmklr2 T C 1: 63,222,827 (GRCm39) Y136C probably damaging Het
Cmtr2 A G 8: 110,948,322 (GRCm39) M211V possibly damaging Het
Cobl T A 11: 12,204,351 (GRCm39) K777* probably null Het
Cul9 T G 17: 46,834,184 (GRCm39) T1253P possibly damaging Het
Dmd T A X: 83,892,342 (GRCm39) L3002H probably damaging Het
Dnah9 C T 11: 66,015,979 (GRCm39) V421I probably benign Het
Eif4a2 A G 16: 22,929,399 (GRCm39) I234V probably benign Het
Epha4 T C 1: 77,421,514 (GRCm39) M323V probably benign Het
Fam47c A G X: 77,781,943 (GRCm39) D175G probably benign Het
Gm14178 T C 11: 99,638,341 (GRCm39) Het
Hes3 T C 4: 152,371,397 (GRCm39) N184S probably benign Het
Kdm6a A G X: 18,112,549 (GRCm39) E45G probably damaging Het
Kdr T C 5: 76,135,126 (GRCm39) K33E probably benign Het
Or2a52 A C 6: 43,144,022 (GRCm39) D10A probably benign Het
Or4k37 A T 2: 111,158,920 (GRCm39) D52V probably damaging Het
Or4k45 A T 2: 111,394,883 (GRCm39) I302K probably benign Het
Or52n4b A G 7: 108,144,187 (GRCm39) T150A probably benign Het
Or8h7 A G 2: 86,720,964 (GRCm39) L185S probably damaging Het
Pi4ka A T 16: 17,196,296 (GRCm39) probably benign Het
Pigk T A 3: 152,448,120 (GRCm39) probably null Het
Pikfyve A G 1: 65,290,771 (GRCm39) T1197A possibly damaging Het
Pramel28 T C 4: 143,693,229 (GRCm39) D83G possibly damaging Het
Rtl9 T C X: 141,886,098 (GRCm39) V1170A probably damaging Het
Ryr3 A G 2: 112,731,250 (GRCm39) S687P possibly damaging Het
Skint5 T C 4: 113,797,981 (GRCm39) T201A probably benign Het
Socs5 G T 17: 87,442,320 (GRCm39) R420L probably damaging Het
Sos1 C T 17: 80,742,372 (GRCm39) S385N possibly damaging Het
Tomm34 A T 2: 163,906,875 (GRCm39) V106D probably damaging Het
Tubal3 T C 13: 3,982,750 (GRCm39) S177P probably damaging Het
Wbp2nl G A 15: 82,190,374 (GRCm39) A101T 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
IGL02068:Plppr4 APN 3 117,125,433 (GRCm39) splice site probably benign
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 2015-04-16