Incidental Mutation 'IGL01980:Plppr1'
ID 182700
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plppr1
Ensembl Gene ENSMUSG00000063446
Gene Name phospholipid phosphatase related 1
Synonyms E130309F12Rik, PRG-3, Lppr1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.359) question?
Stock # IGL01980
Quality Score
Status
Chromosome 4
Chromosomal Location 49059273-49340259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49319992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 206 (Y206F)
Ref Sequence ENSEMBL: ENSMUSP00000075966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076670]
AlphaFold Q8BFZ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000076670
AA Change: Y206F

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075966
Gene: ENSMUSG00000063446
AA Change: Y206F

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 66 88 N/A INTRINSIC
acidPPc 128 272 4.47e-16 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd60 C T 2: 173,412,996 (GRCm39) C164Y probably benign Het
Atp13a2 C T 4: 140,733,463 (GRCm39) A979V probably benign Het
Col5a2 C T 1: 45,421,393 (GRCm39) probably benign Het
Col6a6 T C 9: 105,658,184 (GRCm39) N676S probably damaging Het
Cpa1 T C 6: 30,641,581 (GRCm39) F192L possibly damaging Het
Entpd6 T A 2: 150,604,286 (GRCm39) probably null Het
Fam185a A G 5: 21,664,171 (GRCm39) K302E probably damaging Het
Il12rb2 T C 6: 67,337,519 (GRCm39) K121E probably benign Het
Impg2 G A 16: 56,041,890 (GRCm39) C178Y probably damaging Het
Kdm3b G T 18: 34,967,289 (GRCm39) C1698F probably damaging Het
Llgl2 A G 11: 115,740,851 (GRCm39) D451G probably damaging Het
Mgat4b T A 11: 50,121,540 (GRCm39) L52Q probably damaging Het
Mmp9 C A 2: 164,792,836 (GRCm39) S363R probably benign Het
Mtfmt A G 9: 65,344,356 (GRCm39) Y94C probably benign Het
Myo7b G A 18: 32,094,953 (GRCm39) L1881F possibly damaging Het
Or51a10 A T 7: 103,699,300 (GRCm39) M87K probably benign Het
Or6c6 G T 10: 129,187,386 (GRCm39) probably benign Het
Pex5 T C 6: 124,375,339 (GRCm39) N524S probably damaging Het
Polr3e A G 7: 120,539,519 (GRCm39) probably benign Het
Rhbdd1 A G 1: 82,318,555 (GRCm39) probably benign Het
Rims4 A T 2: 163,707,702 (GRCm39) probably benign Het
Smarcal1 A T 1: 72,655,679 (GRCm39) K653* probably null Het
Stt3b C T 9: 115,105,767 (GRCm39) probably null Het
Syt8 C A 7: 141,993,877 (GRCm39) L343M probably damaging Het
Tbc1d23 G A 16: 57,009,615 (GRCm39) probably benign Het
Tfec T C 6: 16,845,465 (GRCm39) I65V probably damaging Het
Tmem236 A T 2: 14,223,716 (GRCm39) Q168H probably benign Het
Tmem25 G A 9: 44,709,568 (GRCm39) R78* probably null Het
Tnip2 A G 5: 34,654,212 (GRCm39) V288A probably benign Het
Ttc1 G A 11: 43,621,291 (GRCm39) probably benign Het
Tubb4b-ps1 A C 5: 7,229,843 (GRCm39) probably benign Het
Tut1 T C 19: 8,931,364 (GRCm39) C21R probably damaging Het
Ubr4 C A 4: 139,156,913 (GRCm39) Q2313K probably damaging Het
Unc5b T C 10: 60,615,966 (GRCm39) E119G probably damaging Het
Vmn1r23 T A 6: 57,903,475 (GRCm39) Q101L probably damaging Het
Vmn2r77 A G 7: 86,450,678 (GRCm39) D188G probably benign Het
Vmn2r79 A G 7: 86,686,290 (GRCm39) E557G possibly damaging Het
Zfp738 A G 13: 67,818,096 (GRCm39) F632L possibly damaging Het
Other mutations in Plppr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4403001:Plppr1 UTSW 4 49,337,648 (GRCm39) missense probably benign 0.01
R0605:Plppr1 UTSW 4 49,323,466 (GRCm39) missense probably damaging 1.00
R1381:Plppr1 UTSW 4 49,337,674 (GRCm39) missense possibly damaging 0.85
R1452:Plppr1 UTSW 4 49,301,067 (GRCm39) splice site probably benign
R1682:Plppr1 UTSW 4 49,325,617 (GRCm39) critical splice acceptor site probably null
R1980:Plppr1 UTSW 4 49,337,655 (GRCm39) missense probably benign 0.09
R4261:Plppr1 UTSW 4 49,300,993 (GRCm39) missense probably benign 0.09
R4674:Plppr1 UTSW 4 49,323,384 (GRCm39) missense probably damaging 1.00
R5064:Plppr1 UTSW 4 49,319,974 (GRCm39) missense probably benign 0.19
R5144:Plppr1 UTSW 4 49,319,800 (GRCm39) missense possibly damaging 0.71
R7545:Plppr1 UTSW 4 49,320,002 (GRCm39) missense possibly damaging 0.88
R7823:Plppr1 UTSW 4 49,325,703 (GRCm39) missense probably benign 0.01
R8049:Plppr1 UTSW 4 49,300,942 (GRCm39) missense probably benign
R8902:Plppr1 UTSW 4 49,319,836 (GRCm39) missense probably damaging 1.00
R9378:Plppr1 UTSW 4 49,325,627 (GRCm39) nonsense probably null
R9775:Plppr1 UTSW 4 49,323,435 (GRCm39) missense probably benign 0.27
Z1177:Plppr1 UTSW 4 49,319,995 (GRCm39) missense probably damaging 0.97
Z1177:Plppr1 UTSW 4 49,319,950 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07