Incidental Mutation 'IGL00090:Plppr4'
ID 1765
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 # IGL00090
Quality Score
Status
Chromosome 3
Chromosomal Location 117112794-117154525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 117115869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 605 (T605S)
Ref Sequence ENSEMBL: ENSMUSP00000143753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061071] [ENSMUST00000197743]
AlphaFold Q7TME0
Predicted Effect probably benign
Transcript: ENSMUST00000061071
AA Change: T663S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000052306
Gene: ENSMUSG00000044667
AA Change: T663S

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: T605S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000143753
Gene: ENSMUSG00000044667
AA Change: T605S

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,854,345 (GRCm39) T857A probably benign Het
Abcc9 A T 6: 142,578,916 (GRCm39) probably benign Het
Adam11 A G 11: 102,667,657 (GRCm39) T709A probably benign Het
Adgre1 A G 17: 57,757,055 (GRCm39) I771V probably benign Het
Adgrv1 T G 13: 81,553,527 (GRCm39) probably null Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Adra1d G T 2: 131,403,597 (GRCm39) D164E possibly damaging Het
Ago3 A G 4: 126,265,334 (GRCm39) L319P probably damaging Het
Aim2 A G 1: 173,283,031 (GRCm39) S38G probably benign Het
Apoh A G 11: 108,286,660 (GRCm39) D28G probably benign Het
Atm C T 9: 53,435,743 (GRCm39) R189K probably damaging Het
Bbs1 T C 19: 4,943,038 (GRCm39) T451A probably benign Het
BC034090 T C 1: 155,101,193 (GRCm39) D719G possibly damaging Het
Bcr T C 10: 74,992,903 (GRCm39) probably benign Het
Bmp2 A T 2: 133,402,947 (GRCm39) Q166L probably benign Het
Bms1 A T 6: 118,381,544 (GRCm39) S665T probably benign Het
Ccser1 A T 6: 62,357,126 (GRCm39) T855S possibly damaging Het
Cfap36 C T 11: 29,172,875 (GRCm39) V217M probably benign Het
Clca3b T C 3: 144,542,393 (GRCm39) N470D probably damaging Het
Cort A G 4: 149,209,752 (GRCm39) F100S probably damaging Het
Cyp4f14 G T 17: 33,133,540 (GRCm39) D105E probably benign Het
Dnah1 A G 14: 31,009,830 (GRCm39) S1913P probably benign Het
Fam91a1 A T 15: 58,302,584 (GRCm39) H308L probably damaging Het
Fbn1 A C 2: 125,166,867 (GRCm39) I2016M probably damaging Het
Fibcd1 T A 2: 31,723,886 (GRCm39) Q251L possibly damaging Het
Flg2 T A 3: 93,109,416 (GRCm39) Y481* probably null Het
Ly9 A T 1: 171,421,019 (GRCm39) I624N probably damaging Het
Mapt C T 11: 104,213,311 (GRCm39) S301L probably damaging Het
Meiob G A 17: 25,042,603 (GRCm39) V144I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo5a T A 9: 75,068,779 (GRCm39) C660* probably null Het
Necab3 G T 2: 154,389,488 (GRCm39) probably benign Het
Nr2c2ap A G 8: 70,585,279 (GRCm39) Y93C probably damaging Het
Nxpe5 A G 5: 138,247,096 (GRCm39) D356G probably benign Het
Or10ak9 T A 4: 118,726,484 (GRCm39) Y168N probably damaging Het
Or2w25 A T 11: 59,504,147 (GRCm39) Y119F possibly damaging Het
Plce1 A G 19: 38,734,232 (GRCm39) Q1544R probably damaging Het
Poglut1 C A 16: 38,363,278 (GRCm39) W167L possibly damaging Het
Pou2f1 G T 1: 165,729,867 (GRCm39) R162S probably damaging Het
Ptprf A G 4: 118,080,417 (GRCm39) probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Rexo2 A G 9: 48,385,747 (GRCm39) S126P probably damaging Het
Robo4 A G 9: 37,322,400 (GRCm39) S844G probably damaging Het
Scn7a A G 2: 66,513,671 (GRCm39) probably benign Het
Sdc1 A G 12: 8,840,459 (GRCm39) T75A possibly damaging Het
Slc38a4 C T 15: 96,917,690 (GRCm39) E12K probably benign Het
Spata31h1 T G 10: 82,119,586 (GRCm39) M4475L probably benign Het
Tbck T C 3: 132,448,854 (GRCm39) probably null Het
Tex2 A T 11: 106,459,361 (GRCm39) V23E probably damaging Het
Zfp770 A G 2: 114,026,413 (GRCm39) V552A probably benign Het
Zfyve26 T C 12: 79,296,234 (GRCm39) probably benign Het
Other mutations in Plppr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2011-07-12