Incidental Mutation 'R6474:Plek2'
ID 516744
Institutional Source Beutler Lab
Gene Symbol Plek2
Ensembl Gene ENSMUSG00000021118
Gene Name pleckstrin 2
Synonyms
MMRRC Submission 044607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R6474 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 78935465-78953738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 78943065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 77 (R77L)
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 probably benign
Transcript: ENSMUST00000021544
AA Change: R77L

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000021544
Gene: ENSMUSG00000021118
AA Change: R77L

DomainStartEndE-ValueType
PH 5 106 7.18e-15 SMART
DEP 139 225 3.49e-19 SMART
PH 248 353 5e-14 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 T A 8: 71,914,359 (GRCm39) N90Y probably damaging Het
Alkal1 T C 1: 6,459,670 (GRCm39) V82A probably damaging Het
Ascc3 T C 10: 50,624,932 (GRCm39) S1607P probably benign Het
Ccny A T 18: 9,345,427 (GRCm39) L149H probably damaging Het
Clptm1 T C 7: 19,369,762 (GRCm39) N383D possibly damaging Het
Clrn2 T A 5: 45,621,074 (GRCm39) M156K probably benign Het
Coro2b T A 9: 62,333,910 (GRCm39) H328L probably benign Het
Echs1 A T 7: 139,688,055 (GRCm39) M250K probably benign Het
Ecsit A G 9: 21,985,981 (GRCm39) V145A possibly damaging Het
Fas G A 19: 34,293,969 (GRCm39) G108D probably damaging Het
Folh1 A G 7: 86,424,964 (GRCm39) W2R probably damaging Het
Gba1 C T 3: 89,111,388 (GRCm39) P51L probably benign Het
Grik2 C T 10: 49,008,776 (GRCm39) M770I probably benign Het
Hcst T C 7: 30,117,250 (GRCm39) N74S probably damaging Het
Hdac9 T A 12: 34,481,990 (GRCm39) probably null Het
Hsfy2 T A 1: 56,676,150 (GRCm39) D129V probably damaging Het
Htt T C 5: 34,982,239 (GRCm39) V941A probably benign Het
Naip5 A G 13: 100,351,171 (GRCm39) V1279A possibly damaging Het
Neb T A 2: 52,170,624 (GRCm39) M1683L probably benign Het
Nudt21 C T 8: 94,746,282 (GRCm39) V139I probably benign Het
Or5e1 T C 7: 108,354,236 (GRCm39) Y58H probably damaging Het
Pex2 A G 3: 5,626,191 (GRCm39) F206S probably damaging Het
Ppfia1 A T 7: 144,059,942 (GRCm39) D623E possibly damaging Het
Ppm1l T A 3: 69,460,374 (GRCm39) I317N probably damaging Het
Prkacb T A 3: 146,461,479 (GRCm39) T36S probably damaging Het
Sphkap T A 1: 83,256,544 (GRCm39) I115F probably damaging Het
Sprtn G T 8: 125,625,873 (GRCm39) E95* probably null Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tcap C A 11: 98,275,003 (GRCm39) Q46K probably benign Het
Thada T C 17: 84,751,339 (GRCm39) I546V possibly damaging Het
Tubal3 T A 13: 3,983,107 (GRCm39) S296T probably benign Het
Ube3a A G 7: 58,936,772 (GRCm39) N683D probably damaging Het
Vmn2r82 T G 10: 79,214,871 (GRCm39) L285V possibly damaging Het
Zfp871 T C 17: 32,994,647 (GRCm39) D157G possibly damaging Het
Other mutations in Plek2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Plek2 APN 12 78,941,727 (GRCm39) missense possibly damaging 0.68
IGL01945:Plek2 APN 12 78,938,922 (GRCm39) missense probably damaging 1.00
3-1:Plek2 UTSW 12 78,940,946 (GRCm39) missense possibly damaging 0.89
R0141:Plek2 UTSW 12 78,941,278 (GRCm39) missense probably damaging 1.00
R0555:Plek2 UTSW 12 78,938,946 (GRCm39) missense probably damaging 1.00
R1686:Plek2 UTSW 12 78,941,184 (GRCm39) missense probably damaging 1.00
R1925:Plek2 UTSW 12 78,941,664 (GRCm39) missense probably damaging 1.00
R4769:Plek2 UTSW 12 78,953,664 (GRCm39) critical splice donor site probably null
R5595:Plek2 UTSW 12 78,940,883 (GRCm39) missense probably benign
R6102:Plek2 UTSW 12 78,946,867 (GRCm39) missense possibly damaging 0.56
R6943:Plek2 UTSW 12 78,936,083 (GRCm39) critical splice acceptor site probably null
R7423:Plek2 UTSW 12 78,946,884 (GRCm39) missense probably damaging 1.00
R8155:Plek2 UTSW 12 78,943,066 (GRCm39) nonsense probably null
X0013:Plek2 UTSW 12 78,941,295 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCACAGTACTATAGGGCTCTCC -3'
(R):5'- ATGTGTGCTGTCTCACTTGCAG -3'

Sequencing Primer
(F):5'- TCCCCAGTAGACAGGCAG -3'
(R):5'- TGTCTCACTTGCAGCAGGG -3'
Posted On 2018-05-21