Incidental Mutation 'IGL02350:Plek'
ID 289735
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plek
Ensembl Gene ENSMUSG00000020120
Gene Name pleckstrin
Synonyms 2010300B13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # IGL02350
Quality Score
Status
Chromosome 11
Chromosomal Location 16921206-16958718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 16931846 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JHK5
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
Abhd8 A G 8: 71,914,121 (GRCm39) V169A probably benign Het
Adamts16 T A 13: 70,886,704 (GRCm39) T1029S probably benign Het
Adgrv1 C A 13: 81,418,974 (GRCm39) C6007F probably benign Het
Ak8 A T 2: 28,590,225 (GRCm39) H8L probably benign Het
Apol7b A G 15: 77,307,832 (GRCm39) V221A probably benign Het
BC005624 G A 2: 30,863,779 (GRCm39) P235S probably benign Het
Cd96 A G 16: 45,890,139 (GRCm39) probably benign Het
Celf1 A T 2: 90,828,933 (GRCm39) K27I probably damaging Het
Cfap65 A T 1: 74,967,507 (GRCm39) C190* probably null Het
Cib2 A T 9: 54,457,170 (GRCm39) H31Q probably damaging Het
Cyp3a59 T C 5: 146,016,152 (GRCm39) L3P probably damaging Het
Dnajc13 T C 9: 104,039,558 (GRCm39) M2104V possibly damaging Het
Dph3b-ps A G 13: 106,683,453 (GRCm39) noncoding transcript Het
Emb A G 13: 117,386,007 (GRCm39) probably benign Het
Fbn2 G T 18: 58,237,067 (GRCm39) N645K possibly damaging Het
Fes T C 7: 80,033,578 (GRCm39) probably null Het
Flnc A T 6: 29,438,492 (GRCm39) K129* probably null Het
Gckr C A 5: 31,465,134 (GRCm39) H368N possibly damaging Het
Gm5145 A T 17: 20,790,702 (GRCm39) I27F probably damaging Het
Hecw1 A G 13: 14,422,923 (GRCm39) probably null Het
Hivep3 T G 4: 119,980,222 (GRCm39) C1753W probably damaging Het
Hook2 C T 8: 85,721,614 (GRCm39) Q291* probably null Het
Jakmip2 T C 18: 43,680,192 (GRCm39) T722A possibly damaging Het
Kcnt2 A G 1: 140,279,007 (GRCm39) I53V probably benign Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Mrc2 A G 11: 105,216,547 (GRCm39) D112G probably damaging Het
Mroh2b A G 15: 4,941,482 (GRCm39) N338S probably benign Het
Mrpl23 T A 7: 142,089,802 (GRCm39) probably benign Het
Myo18a A G 11: 77,741,073 (GRCm39) N1442S probably benign Het
Ngdn T A 14: 55,259,393 (GRCm39) V179E probably damaging Het
Nxn A G 11: 76,165,480 (GRCm39) probably benign Het
Or10am5 T A 7: 6,518,225 (GRCm39) M68L probably damaging Het
Or2b7 A G 13: 21,739,772 (GRCm39) L140P probably damaging Het
Osmr A T 15: 6,858,144 (GRCm39) N441K probably benign Het
Plcb3 A C 19: 6,935,546 (GRCm39) L789R probably damaging Het
Pmp22 G T 11: 63,049,134 (GRCm39) V126F probably benign Het
Prom1 A G 5: 44,186,946 (GRCm39) probably benign Het
Prss1 C A 6: 41,440,139 (GRCm39) Q159K probably damaging Het
Psd3 G T 8: 68,416,521 (GRCm39) H459N probably benign Het
Rusc2 T G 4: 43,425,351 (GRCm39) V1152G possibly damaging Het
Slc16a4 A G 3: 107,210,415 (GRCm39) I362V probably benign Het
Slc22a22 A G 15: 57,110,844 (GRCm39) V461A probably benign Het
Slc35e4 C T 11: 3,862,640 (GRCm39) R183Q probably benign Het
Spen T C 4: 141,204,890 (GRCm39) T1246A unknown Het
Syt16 T C 12: 74,313,616 (GRCm39) V514A probably benign Het
Tdpoz2 A G 3: 93,559,735 (GRCm39) V79A possibly damaging Het
Ttn A G 2: 76,539,963 (GRCm39) V34341A probably benign Het
Vxn T C 1: 9,683,544 (GRCm39) I44T possibly damaging Het
Wwox T C 8: 115,438,882 (GRCm39) V316A possibly damaging Het
Other mutations in Plek
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02357:Plek APN 11 16,931,846 (GRCm39) missense probably damaging 1.00
IGL02982:Plek APN 11 16,931,826 (GRCm39) missense probably damaging 1.00
IGL03184:Plek APN 11 16,931,887 (GRCm39) missense probably benign
IGL03243:Plek APN 11 16,945,319 (GRCm39) missense possibly damaging 0.47
PIT4402001:Plek UTSW 11 16,940,121 (GRCm39) missense probably benign
R0025:Plek UTSW 11 16,935,594 (GRCm39) missense probably damaging 1.00
R1756:Plek UTSW 11 16,942,901 (GRCm39) missense probably damaging 1.00
R1881:Plek UTSW 11 16,940,111 (GRCm39) missense probably benign 0.08
R2940:Plek UTSW 11 16,942,887 (GRCm39) critical splice donor site probably null
R3426:Plek UTSW 11 16,940,142 (GRCm39) missense probably damaging 0.99
R4436:Plek UTSW 11 16,942,972 (GRCm39) missense probably damaging 0.97
R4463:Plek UTSW 11 16,931,873 (GRCm39) missense possibly damaging 0.95
R4475:Plek UTSW 11 16,935,528 (GRCm39) critical splice donor site probably null
R4998:Plek UTSW 11 16,933,194 (GRCm39) critical splice donor site probably null
R5050:Plek UTSW 11 16,945,216 (GRCm39) missense probably damaging 0.98
R6108:Plek UTSW 11 16,940,058 (GRCm39) missense probably damaging 0.98
R6159:Plek UTSW 11 16,935,539 (GRCm39) missense probably damaging 0.96
R6185:Plek UTSW 11 16,931,829 (GRCm39) missense probably damaging 1.00
R7011:Plek UTSW 11 16,944,760 (GRCm39) missense possibly damaging 0.86
R7017:Plek UTSW 11 17,002,220 (GRCm39) start gained probably benign
R7317:Plek UTSW 11 16,944,739 (GRCm39) missense probably benign 0.06
R7890:Plek UTSW 11 16,945,238 (GRCm39) missense probably benign
R8334:Plek UTSW 11 16,933,220 (GRCm39) missense probably benign 0.09
R8440:Plek UTSW 11 16,945,276 (GRCm39) missense possibly damaging 0.87
R8679:Plek UTSW 11 16,944,676 (GRCm39) missense probably damaging 0.99
R9600:Plek UTSW 11 16,940,119 (GRCm39) missense probably benign
R9617:Plek UTSW 11 16,945,311 (GRCm39) missense possibly damaging 0.92
R9666:Plek UTSW 11 16,945,346 (GRCm39) missense probably benign
R9669:Plek UTSW 11 16,944,775 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16