Incidental Mutation 'IGL02014:Plppr4'
ID183448
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 #IGL02014
Quality Score
Status
Chromosome3
Chromosomal Location117319139-117360876 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 117335573 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 82 (S82P)
Ref Sequence ENSEMBL: ENSMUSP00000143753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061071] [ENSMUST00000197743]
Predicted Effect probably damaging
Transcript: ENSMUST00000061071
AA Change: S82P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052306
Gene: ENSMUSG00000044667
AA Change: S82P

DomainStartEndE-ValueType
acidPPc 180 324 4.07e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125664
Predicted Effect probably damaging
Transcript: ENSMUST00000197743
AA Change: S82P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143753
Gene: ENSMUSG00000044667
AA Change: S82P

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd44 C T 1: 54,657,620 G654S possibly damaging Het
Arl14ep C T 2: 106,967,113 A180T probably benign Het
Btbd9 A C 17: 30,517,150 S330A probably damaging Het
Cep78 T C 19: 15,984,738 D48G probably damaging Het
Col4a4 C T 1: 82,523,960 probably benign Het
Ctdsp1 C T 1: 74,394,016 probably benign Het
Gapvd1 G A 2: 34,704,191 P949L probably damaging Het
Gas6 T C 8: 13,468,359 T492A possibly damaging Het
Igbp1b A T 6: 138,657,603 V281D probably benign Het
Mapk8ip3 G A 17: 24,903,280 probably benign Het
Met T C 6: 17,527,257 probably benign Het
Mmachc A G 4: 116,703,710 F196S probably damaging Het
Olfr618 T A 7: 103,597,730 I138N probably damaging Het
Pah A T 10: 87,581,927 T427S probably benign Het
Pcdh7 C A 5: 57,719,703 P200Q probably benign Het
Pde3a C A 6: 141,459,144 P365Q probably null Het
Pkm A G 9: 59,668,961 T143A possibly damaging Het
Rnf165 A T 18: 77,468,359 V167E probably damaging Het
Ryr3 T C 2: 112,946,915 E299G possibly damaging Het
Sdk2 G A 11: 113,838,494 P1086S probably damaging Het
Spats1 G A 17: 45,461,240 R81C probably benign Het
Tbc1d2 T C 4: 46,649,778 N86S possibly damaging Het
Thegl T A 5: 77,047,155 F59I probably damaging Het
Vezt T A 10: 93,996,949 Y10F probably benign Het
Vmn1r174 C A 7: 23,754,158 P83H probably damaging Het
Vmn1r218 C T 13: 23,136,831 T36I probably damaging Het
Zmym4 A T 4: 126,900,669 N889K possibly 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
IGL02068:Plppr4 APN 3 117331784 splice site probably benign
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
Z1176:Plppr4 UTSW 3 117322849 missense probably damaging 1.00
Posted On2014-05-07