Incidental Mutation 'IGL02350:Plek'
ID289735
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plek
Ensembl Gene ENSMUSG00000020120
Gene Namepleckstrin
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.265) question?
Stock #IGL02350
Quality Score
Status
Chromosome11
Chromosomal Location16971206-17052381 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 16981846 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 335 (R335H)
Ref Sequence ENSEMBL: ENSMUSP00000099945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020321] [ENSMUST00000102881]
PDB Structure
Solution structure of the DEP domain of mouse pleckstrin [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000020321
AA Change: R312H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020321
Gene: ENSMUSG00000020120
AA Change: R312H

DomainStartEndE-ValueType
PH 1 80 1.12e-2 SMART
DEP 113 198 2.53e-16 SMART
PH 222 326 5.96e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102881
AA Change: R335H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099945
Gene: ENSMUSG00000020120
AA Change: R335H

DomainStartEndE-ValueType
PH 5 103 7.12e-19 SMART
DEP 136 221 2.53e-16 SMART
PH 245 349 5.96e-21 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display mild thrombocytopenia, impaired platelet aggregation, and impaired platelet granule secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110035E14Rik T C 1: 9,613,319 I44T possibly damaging Het
Abhd8 A G 8: 71,461,477 V169A probably benign Het
Adamts16 T A 13: 70,738,585 T1029S probably benign Het
Adgrv1 C A 13: 81,270,855 C6007F probably benign Het
Ak8 A T 2: 28,700,213 H8L probably benign Het
Apol7b A G 15: 77,423,632 V221A probably benign Het
BC005624 G A 2: 30,973,767 P235S probably benign Het
Cd96 A G 16: 46,069,776 probably benign Het
Celf1 A T 2: 90,998,588 K27I probably damaging Het
Cfap65 A T 1: 74,928,348 C190* probably null Het
Cib2 A T 9: 54,549,886 H31Q probably damaging Het
Cyp3a59 T C 5: 146,079,342 L3P probably damaging Het
Dnajc13 T C 9: 104,162,359 M2104V possibly damaging Het
Dph3b-ps A G 13: 106,546,945 noncoding transcript Het
Emb A G 13: 117,249,471 probably benign Het
Fbn2 G T 18: 58,103,995 N645K possibly damaging Het
Fes T C 7: 80,383,830 probably null Het
Flnc A T 6: 29,438,493 K129* probably null Het
Gckr C A 5: 31,307,790 H368N possibly damaging Het
Gm5145 A T 17: 20,570,440 I27F probably damaging Het
Hecw1 A G 13: 14,248,338 probably null Het
Hivep3 T G 4: 120,123,025 C1753W probably damaging Het
Hook2 C T 8: 84,994,985 Q291* probably null Het
Jakmip2 T C 18: 43,547,127 T722A possibly damaging Het
Kcnt2 A G 1: 140,351,269 I53V probably benign Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Mrc2 A G 11: 105,325,721 D112G probably damaging Het
Mroh2b A G 15: 4,912,000 N338S probably benign Het
Mrpl23 T A 7: 142,536,065 probably benign Het
Myo18a A G 11: 77,850,247 N1442S probably benign Het
Ngdn T A 14: 55,021,936 V179E probably damaging Het
Nxn A G 11: 76,274,654 probably benign Het
Olfr1349 T A 7: 6,515,226 M68L probably damaging Het
Olfr1535 A G 13: 21,555,602 L140P probably damaging Het
Osmr A T 15: 6,828,663 N441K probably benign Het
Plcb3 A C 19: 6,958,178 L789R probably damaging Het
Pmp22 G T 11: 63,158,308 V126F probably benign Het
Prom1 A G 5: 44,029,604 probably benign Het
Prss1 C A 6: 41,463,205 Q159K probably damaging Het
Psd3 G T 8: 67,963,869 H459N probably benign Het
Rusc2 T G 4: 43,425,351 V1152G possibly damaging Het
Slc16a4 A G 3: 107,303,099 I362V probably benign Het
Slc22a22 A G 15: 57,247,448 V461A probably benign Het
Slc35e4 C T 11: 3,912,640 R183Q probably benign Het
Spen T C 4: 141,477,579 T1246A unknown Het
Syt16 T C 12: 74,266,842 V514A probably benign Het
Tdpoz2 A G 3: 93,652,428 V79A possibly damaging Het
Ttn A G 2: 76,709,619 V34341A probably benign Het
Wwox T C 8: 114,712,142 V316A possibly damaging Het
Other mutations in Plek
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02357:Plek APN 11 16981846 missense probably damaging 1.00
IGL02982:Plek APN 11 16981826 missense probably damaging 1.00
IGL03184:Plek APN 11 16981887 missense probably benign
IGL03243:Plek APN 11 16995319 missense possibly damaging 0.47
PIT4402001:Plek UTSW 11 16990121 missense probably benign
R0025:Plek UTSW 11 16985594 missense probably damaging 1.00
R1756:Plek UTSW 11 16992901 missense probably damaging 1.00
R1881:Plek UTSW 11 16990111 missense probably benign 0.08
R2940:Plek UTSW 11 16992887 critical splice donor site probably null
R3426:Plek UTSW 11 16990142 missense probably damaging 0.99
R4436:Plek UTSW 11 16992972 missense probably damaging 0.97
R4463:Plek UTSW 11 16981873 missense possibly damaging 0.95
R4475:Plek UTSW 11 16985528 critical splice donor site probably null
R4998:Plek UTSW 11 16983194 critical splice donor site probably null
R5050:Plek UTSW 11 16995216 missense probably damaging 0.98
R6108:Plek UTSW 11 16990058 missense probably damaging 0.98
R6159:Plek UTSW 11 16985539 missense probably damaging 0.96
R6185:Plek UTSW 11 16981829 missense probably damaging 1.00
R7011:Plek UTSW 11 16994760 missense possibly damaging 0.86
R7017:Plek UTSW 11 17052220 start gained probably benign
R7317:Plek UTSW 11 16994739 missense probably benign 0.06
Posted On2015-04-16