Incidental Mutation 'IGL01969:Plppr4'
ID 181639
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 # IGL01969
Quality Score
Status
Chromosome 3
Chromosomal Location 117112794-117154525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 117122008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 190 (T190K)
Ref Sequence ENSEMBL: ENSMUSP00000052306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061071] [ENSMUST00000197743]
AlphaFold Q7TME0
Predicted Effect probably damaging
Transcript: ENSMUST00000061071
AA Change: T190K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052306
Gene: ENSMUSG00000044667
AA Change: T190K

DomainStartEndE-ValueType
acidPPc 180 324 4.07e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125664
Predicted Effect probably damaging
Transcript: ENSMUST00000197743
AA Change: T190K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143753
Gene: ENSMUSG00000044667
AA Change: T190K

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 C A 8: 124,207,170 (GRCm39) P74H probably damaging Het
Aire T A 10: 77,878,816 (GRCm39) D77V probably damaging Het
Ank2 T A 3: 126,746,872 (GRCm39) H571L possibly damaging Het
Apol10b T C 15: 77,472,885 (GRCm39) probably null Het
Cacna2d2 A T 9: 107,386,415 (GRCm39) M181L probably benign Het
Ccnl1 T C 3: 65,855,908 (GRCm39) probably benign Het
Chd9 A G 8: 91,760,138 (GRCm39) E1961G possibly damaging Het
Dnajc12 C A 10: 63,231,609 (GRCm39) H42N probably damaging Het
Eml4 T C 17: 83,753,409 (GRCm39) V248A possibly damaging Het
Epha10 A C 4: 124,779,670 (GRCm39) K172T probably damaging Het
Fat1 T C 8: 45,405,636 (GRCm39) Y796H probably damaging Het
Gpr176 A C 2: 118,110,118 (GRCm39) F380L probably damaging Het
Guca1a A T 17: 47,711,268 (GRCm39) M26K probably damaging Het
Gucy2g T G 19: 55,215,870 (GRCm39) M501L probably benign Het
Herc2 T C 7: 55,835,579 (GRCm39) probably benign Het
Itgav A G 2: 83,633,627 (GRCm39) E1028G probably damaging Het
Itpr1 A G 6: 108,354,652 (GRCm39) T179A probably damaging Het
Lpin2 A G 17: 71,538,502 (GRCm39) T383A probably benign Het
Midn A G 10: 79,991,093 (GRCm39) T325A probably benign Het
Mpdz A G 4: 81,276,961 (GRCm39) Y788H probably damaging Het
Muc1 A T 3: 89,139,313 (GRCm39) D571V probably damaging Het
Myo3a A T 2: 22,302,499 (GRCm39) H316L probably benign Het
Nagpa T C 16: 5,013,753 (GRCm39) K362E probably benign Het
Ola1 G A 2: 72,930,490 (GRCm39) A266V probably benign Het
Or1e33 T C 11: 73,738,435 (GRCm39) N172S possibly damaging Het
Or4a47 A G 2: 89,666,064 (GRCm39) I75T probably benign Het
Or5b97 C A 19: 12,878,416 (GRCm39) A243S possibly damaging Het
Otof A G 5: 30,539,827 (GRCm39) probably benign Het
Pi4ka A C 16: 17,196,347 (GRCm39) V105G probably benign Het
Pnpla3 G A 15: 84,063,425 (GRCm39) A268T probably benign Het
Ppp6r2 C T 15: 89,159,713 (GRCm39) H467Y probably damaging Het
Prkd2 C T 7: 16,599,682 (GRCm39) T715M probably damaging Het
Rusc2 A G 4: 43,415,738 (GRCm39) N348S probably benign Het
Ska3 A G 14: 58,049,119 (GRCm39) V284A probably benign Het
Slc23a1 A T 18: 35,757,807 (GRCm39) V199D possibly damaging Het
Slc6a13 T C 6: 121,312,601 (GRCm39) L445P probably damaging Het
Smo A T 6: 29,755,171 (GRCm39) probably null Het
Tmem131 A G 1: 36,864,541 (GRCm39) L564S possibly damaging Het
Ttc23l G A 15: 10,551,520 (GRCm39) Q69* probably null Het
Other mutations in Plppr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Plppr4 APN 3 117,115,869 (GRCm39) missense probably benign 0.01
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 2014-05-07