Incidental Mutation 'R6159:Plek'
ID 489763
Institutional Source Beutler Lab
Gene Symbol Plek
Ensembl Gene ENSMUSG00000020120
Gene Name pleckstrin
Synonyms 2010300B13Rik
MMRRC Submission 044306-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R6159 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 16921206-16958718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16935539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 256 (D256G)
Ref Sequence ENSEMBL: ENSMUSP00000020321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020321] [ENSMUST00000102881]
AlphaFold Q9JHK5
Predicted Effect probably damaging
Transcript: ENSMUST00000020321
AA Change: D256G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020321
Gene: ENSMUSG00000020120
AA Change: D256G

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 possibly damaging
Transcript: ENSMUST00000102881
AA Change: D279G

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099945
Gene: ENSMUSG00000020120
AA Change: D279G

DomainStartEndE-ValueType
PH 5 103 7.12e-19 SMART
DEP 136 221 2.53e-16 SMART
PH 245 349 5.96e-21 SMART
Meta Mutation Damage Score 0.4473 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 96% (54/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcyl2 A C 6: 29,908,457 (GRCm39) N609T possibly damaging Het
Ankzf1 G A 1: 75,170,888 (GRCm39) C98Y probably damaging Het
Atg101 T A 15: 101,188,519 (GRCm39) M208K possibly damaging Het
Baiap2l2 A G 15: 79,143,930 (GRCm39) I388T probably benign Het
Cabs1 C T 5: 88,127,613 (GRCm39) T88I possibly damaging Het
Chrnd T A 1: 87,118,812 (GRCm39) D56E probably benign Het
Col28a1 A T 6: 8,162,247 (GRCm39) probably null Het
Col4a1 G T 8: 11,270,007 (GRCm39) P899Q probably damaging Het
Cts3 C A 13: 61,714,655 (GRCm39) A217S probably damaging Het
Dab2 A G 15: 6,465,941 (GRCm39) N495S possibly damaging Het
Dnah2 T A 11: 69,349,368 (GRCm39) I2423F probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock6 T C 9: 21,733,041 (GRCm39) H1053R probably benign Het
Eif1ad14 G A 12: 87,886,521 (GRCm39) A36V probably damaging Het
Fam184a G A 10: 53,574,869 (GRCm39) L191F probably damaging Het
Fbxl9 T C 8: 106,049,925 (GRCm39) Y33C probably damaging Het
Fip1l1 C T 5: 74,752,608 (GRCm39) R472W probably damaging Het
Gbp2 T C 3: 142,338,018 (GRCm39) F378S probably damaging Het
Ggt1 A T 10: 75,420,799 (GRCm39) E388V probably damaging Het
Gm14496 A G 2: 181,638,050 (GRCm39) T375A probably benign Het
Gm43302 A G 5: 105,436,894 (GRCm39) S71P probably benign Het
Gnrhr G T 5: 86,330,216 (GRCm39) T268K probably damaging Het
Htt T C 5: 34,962,020 (GRCm39) V335A probably benign Het
Klhl20 A T 1: 160,933,037 (GRCm39) L257H probably damaging Het
Med27 C A 2: 29,414,376 (GRCm39) probably null Het
Muc5ac T A 7: 141,369,323 (GRCm39) C2433S possibly damaging Het
Nasp A G 4: 116,461,086 (GRCm39) probably null Het
Nipal2 A C 15: 34,600,172 (GRCm39) V215G probably damaging Het
Or10al5 A T 17: 38,063,038 (GRCm39) I98F probably damaging Het
Or9i1b C T 19: 13,897,104 (GRCm39) T240I probably damaging Het
Oxct2b G A 4: 123,011,244 (GRCm39) R388H probably damaging Het
Pbrm1 A G 14: 30,774,240 (GRCm39) I469V possibly damaging Het
Phyhip A G 14: 70,704,294 (GRCm39) H171R possibly damaging Het
Pigs C T 11: 78,219,326 (GRCm39) T9M probably benign Het
Prss50 T C 9: 110,693,371 (GRCm39) V369A probably benign Het
Psmc5 A G 11: 106,152,088 (GRCm39) K82E possibly damaging Het
Qrsl1 A T 10: 43,758,189 (GRCm39) F301L probably benign Het
Rasal1 T C 5: 120,797,673 (GRCm39) L135P probably damaging Het
Rbm47 A G 5: 66,184,159 (GRCm39) V148A probably damaging Het
Scyl1 T A 19: 5,814,785 (GRCm39) D381V probably benign Het
Selplg G T 5: 113,957,162 (GRCm39) D381E probably benign Het
Sh3rf2 C A 18: 42,289,200 (GRCm39) Q674K probably damaging Het
Sned1 A G 1: 93,210,659 (GRCm39) T987A probably benign Het
Sntb1 A G 15: 55,539,698 (GRCm39) probably null Het
Synj2 A T 17: 6,036,327 (GRCm39) I14F probably damaging Het
Taf2 A T 15: 54,926,440 (GRCm39) M170K possibly damaging Het
Tg A G 15: 66,607,096 (GRCm39) E211G possibly damaging Het
Thnsl1 G T 2: 21,217,016 (GRCm39) E257* probably null Het
Tlr4 A G 4: 66,758,070 (GRCm39) R288G possibly damaging Het
Trbc1 T C 6: 41,515,385 (GRCm39) probably benign Het
Trim37 G A 11: 87,107,374 (GRCm39) probably null Het
Txnrd3 T C 6: 89,640,176 (GRCm39) probably null Het
Tyk2 C A 9: 21,021,800 (GRCm39) Q875H probably damaging Het
Vmn2r55 A G 7: 12,385,698 (GRCm39) Y761H probably damaging Het
Zswim5 T C 4: 116,836,876 (GRCm39) L720P probably damaging Het
Other mutations in Plek
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02350:Plek APN 11 16,931,846 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCCTGGAGGCACAAGAACTCAG -3'
(R):5'- CCCTGAGAAAGACGTGGTTG -3'

Sequencing Primer
(F):5'- GAACTCAGACCATGCCGAGTG -3'
(R):5'- TGAGGTCCCAGTAATTCACCATGG -3'
Posted On 2017-10-10