Incidental Mutation 'IGL01288:Plek2'
ID 72798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plek2
Ensembl Gene ENSMUSG00000021118
Gene Name pleckstrin 2
Synonyms
Accession Numbers

Genbank: NM_013738; MGI: 1351466

Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL01288
Quality Score
Status
Chromosome 12
Chromosomal Location 78888691-78906964 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78894953 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 134 (D134G)
Ref Sequence ENSEMBL: ENSMUSP00000021544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021544]
AlphaFold Q9WV52
PDB Structure Solution structure of the DEP domain of mouse pleckstrin2 [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021544
AA Change: D134G

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021544
Gene: ENSMUSG00000021118
AA Change: D134G

DomainStartEndE-ValueType
PH 5 106 7.18e-15 SMART
DEP 139 225 3.49e-19 SMART
PH 248 353 5e-14 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene associates with membrane-bound phosphatidylinositols generated by phosphatidylinositol 3-kinase. The encoded protein then interacts with the actin cytoskeleton to induce cell spreading. In conjunction with complement component 1, q subcomponent, B chain (C1QB), this gene shows an increase in expression in melanoma cells and may serve as an accurate biomarker for the disease. [provided by RefSeq, Dec 2015]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 G T 8: 122,780,642 probably benign Het
Acsl3 G T 1: 78,699,759 W490L possibly damaging Het
Ahnak A G 19: 9,002,494 I381V possibly damaging Het
Aox2 A G 1: 58,294,407 Y261C probably damaging Het
Ap3m2 T C 8: 22,803,915 T40A probably benign Het
Arfgef1 C T 1: 10,213,211 A158T possibly damaging Het
Atp1a4 T C 1: 172,257,907 E43G possibly damaging Het
Cog5 C T 12: 31,886,206 T584I probably benign Het
Cpa1 G A 6: 30,640,583 V75M probably damaging Het
Cul7 A G 17: 46,657,807 probably benign Het
Dopey2 T C 16: 93,739,293 I93T possibly damaging Het
Dyrk2 T C 10: 118,860,699 Y218C probably damaging Het
Efr3b T C 12: 3,982,865 Y164C probably damaging Het
Etos1 C A 7: 130,772,205 probably benign Het
Fam13a A G 6: 58,956,727 Y293H probably damaging Het
Fam35a A T 14: 34,259,643 Y513N probably benign Het
Gde1 A T 7: 118,691,640 V154D possibly damaging Het
Glyat A G 19: 12,650,355 T105A possibly damaging Het
Il1f8 A T 2: 24,159,913 I179L probably benign Het
Kif21b C T 1: 136,172,184 T1492M probably benign Het
Kmt2d G T 15: 98,865,044 P282T probably damaging Het
Lgi4 A G 7: 31,069,043 E489G probably benign Het
Lipn A C 19: 34,079,035 E260D probably benign Het
Mdn1 A G 4: 32,730,864 D2911G probably benign Het
Nab2 C T 10: 127,665,109 R38Q probably damaging Het
Olfr1101 C A 2: 86,988,254 M307I probably benign Het
Olfr1184 T A 2: 88,487,248 I172K probably damaging Het
Olfr1231 A T 2: 89,303,472 V40E possibly damaging Het
Olfr395 A T 11: 73,907,313 Y60N probably damaging Het
Olfr523 T C 7: 140,176,615 L165P probably damaging Het
Olfr556 A G 7: 102,670,651 T244A probably damaging Het
Osbpl6 T C 2: 76,564,823 S337P probably damaging Het
Phf8 T C X: 151,547,925 probably null Het
Pik3c2b C T 1: 133,094,805 H1162Y probably damaging Het
Rnf139 G A 15: 58,899,179 R351H probably damaging Het
Skint5 T C 4: 113,524,135 probably benign Het
Slc12a9 C T 5: 137,330,938 probably null Het
St5 A G 7: 109,539,822 I668T probably damaging Het
Stradb C A 1: 58,992,301 H216N possibly damaging Het
Tex15 C T 8: 33,571,384 H281Y probably benign Het
Tg G T 15: 66,736,276 V237L possibly damaging Het
Tns1 T A 1: 73,953,810 T570S probably damaging Het
Tpm1 C T 9: 67,036,055 R105H probably damaging Het
Wdfy3 G T 5: 101,901,991 probably null Het
Zc3h12c A G 9: 52,117,651 probably benign Het
Zmynd8 T A 2: 165,812,814 S584C probably damaging Het
Other mutations in Plek2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01945:Plek2 APN 12 78892148 missense probably damaging 1.00
3-1:Plek2 UTSW 12 78894172 missense possibly damaging 0.89
R0141:Plek2 UTSW 12 78894504 missense probably damaging 1.00
R0555:Plek2 UTSW 12 78892172 missense probably damaging 1.00
R1686:Plek2 UTSW 12 78894410 missense probably damaging 1.00
R1925:Plek2 UTSW 12 78894890 missense probably damaging 1.00
R4769:Plek2 UTSW 12 78906890 critical splice donor site probably null
R5595:Plek2 UTSW 12 78894109 missense probably benign
R6102:Plek2 UTSW 12 78900093 missense possibly damaging 0.56
R6474:Plek2 UTSW 12 78896291 missense probably benign 0.08
R6943:Plek2 UTSW 12 78889309 critical splice acceptor site probably null
R7423:Plek2 UTSW 12 78900110 missense probably damaging 1.00
R8155:Plek2 UTSW 12 78896292 nonsense probably null
X0013:Plek2 UTSW 12 78894521 missense probably damaging 1.00
Posted On 2013-10-07