Incidental Mutation 'IGL01832:Plppr2'
ID154822
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plppr2
Ensembl Gene ENSMUSG00000040563
Gene Namephospholipid phosphatase related 2
SynonymsLppr2, PRG-4, BC018242
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL01832
Quality Score
Status
Chromosome9
Chromosomal Location21937033-21948907 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 21943446 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 138 (R138S)
Ref Sequence ENSEMBL: ENSMUSP00000140166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046371] [ENSMUST00000188468] [ENSMUST00000190387]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046371
AA Change: R163S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000038616
Gene: ENSMUSG00000040563
AA Change: R163S

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
transmembrane domain 69 91 N/A INTRINSIC
low complexity region 94 106 N/A INTRINSIC
acidPPc 130 281 2.31e-9 SMART
low complexity region 363 422 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000188468
AA Change: R138S

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140166
Gene: ENSMUSG00000040563
AA Change: R138S

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
transmembrane domain 46 63 N/A INTRINSIC
low complexity region 69 81 N/A INTRINSIC
acidPPc 105 256 1.1e-11 SMART
low complexity region 338 397 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000190387
AA Change: R163S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139727
Gene: ENSMUSG00000040563
AA Change: R163S

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
transmembrane domain 69 91 N/A INTRINSIC
low complexity region 94 106 N/A INTRINSIC
acidPPc 130 281 2.31e-9 SMART
low complexity region 322 336 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,259,129 T681I probably benign Het
Atg4b T C 1: 93,785,904 probably benign Het
Atp10b T A 11: 43,234,435 M1076K probably damaging Het
Atp23 A T 10: 126,894,345 N111K probably damaging Het
Atxn2 C A 5: 121,806,268 Y72* probably null Het
C1qtnf12 A G 4: 155,965,866 D220G probably damaging Het
C2cd3 A T 7: 100,427,214 T1171S possibly damaging Het
Ccdc15 G A 9: 37,311,344 R585W probably damaging Het
Cep152 A C 2: 125,618,494 Y179* probably null Het
Cpa2 T C 6: 30,551,999 S242P probably benign Het
Ctps2 G T X: 162,936,703 probably benign Het
Cttnbp2nl A G 3: 105,011,228 S99P probably damaging Het
Ddx20 A G 3: 105,679,011 S673P probably damaging Het
Erbb4 T C 1: 68,254,566 K722R possibly damaging Het
Ercc8 A G 13: 108,169,459 T123A probably damaging Het
Ermard T C 17: 15,059,849 V87A probably damaging Het
Fkbp8 A G 8: 70,531,545 H182R probably benign Het
Gab2 T C 7: 97,304,238 L606P probably damaging Het
Gls C T 1: 52,168,409 probably null Het
Hook3 A T 8: 26,072,365 M224K possibly damaging Het
Itga5 T A 15: 103,355,949 K298* probably null Het
Lrrc74a C A 12: 86,761,714 T422K probably benign Het
Myh9 A C 15: 77,791,753 D244E probably benign Het
Ndrg4 A G 8: 95,713,319 E349G probably damaging Het
Olfr1158 T A 2: 87,990,169 D19E probably benign Het
Otop2 T C 11: 115,326,943 S202P probably benign Het
Prkaca A C 8: 83,990,737 K206N probably damaging Het
Ptpro C T 6: 137,393,668 T589I possibly damaging Het
Ptprq A G 10: 107,565,839 probably null Het
Slc16a5 T C 11: 115,465,001 V96A probably benign Het
Ssfa2 G A 2: 79,651,418 V481M possibly damaging Het
Tcerg1 A G 18: 42,574,555 K1047E probably damaging Het
Tinag T C 9: 77,031,756 K147E probably benign Het
Urgcp T C 11: 5,717,325 T338A probably damaging Het
Wdr74 C T 19: 8,739,938 R299C probably damaging Het
Zzef1 C T 11: 72,875,066 S1473L probably damaging Het
Other mutations in Plppr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0630:Plppr2 UTSW 9 21947901 missense probably benign 0.39
R1418:Plppr2 UTSW 9 21947789 missense possibly damaging 0.77
R1682:Plppr2 UTSW 9 21944421 missense possibly damaging 0.93
R1813:Plppr2 UTSW 9 21947924 missense probably damaging 0.99
R1830:Plppr2 UTSW 9 21947751 missense probably damaging 1.00
R1970:Plppr2 UTSW 9 21941126 missense probably damaging 0.99
R4807:Plppr2 UTSW 9 21944514 missense probably damaging 1.00
R5192:Plppr2 UTSW 9 21941132 missense probably damaging 1.00
R5196:Plppr2 UTSW 9 21941132 missense probably damaging 1.00
R5205:Plppr2 UTSW 9 21941074 missense probably damaging 0.99
R5568:Plppr2 UTSW 9 21941129 missense probably damaging 1.00
R5657:Plppr2 UTSW 9 21947615 missense probably damaging 0.96
R6273:Plppr2 UTSW 9 21944505 missense probably damaging 1.00
R7138:Plppr2 UTSW 9 21944412 missense probably damaging 0.98
R8151:Plppr2 UTSW 9 21940809 missense probably damaging 1.00
Posted On2014-02-04