Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01945:Plek2'

181215

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plek2

Ensembl Gene

ENSMUSG00000021118

Gene Name

pleckstrin 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL01945

Quality Score

Status

Chromosome

Chromosomal Location

78935465-78953738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78938922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 279 (H279L)

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 damaging
Transcript: ENSMUST00000021544
AA Change: H279L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021544
Gene: ENSMUSG00000021118
AA Change: H279L

Domain	Start	End	E-Value	Type
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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	C	11: 109,974,130 (GRCm39)		probably benign	Het
Acta2	A	G	19: 34,229,254 (GRCm39)	V45A	probably benign	Het
Adam11	G	A	11: 102,663,736 (GRCm39)	V305M	probably damaging	Het
Adcy1	A	G	11: 7,111,891 (GRCm39)	K919E	probably damaging	Het
Afap1l1	T	C	18: 61,889,934 (GRCm39)	T101A	probably benign	Het
Apbb2	T	A	5: 66,557,594 (GRCm39)	D289V	probably damaging	Het
Appl1	A	G	14: 26,650,612 (GRCm39)	V520A	possibly damaging	Het
Atp5mc3	G	A	2: 73,741,313 (GRCm39)	R9C	probably benign	Het
Atp8a2	A	G	14: 60,263,609 (GRCm39)	L375P	probably damaging	Het
Cavin1	A	T	11: 100,861,246 (GRCm39)	F16Y	probably benign	Het
Ccdc185	C	A	1: 182,576,441 (GRCm39)	V83L	probably benign	Het
Ccdc80	T	A	16: 44,938,608 (GRCm39)	S772T	probably damaging	Het
Cntn4	T	A	6: 106,414,865 (GRCm39)	V132E	probably damaging	Het
Coa5	A	T	1: 37,468,979 (GRCm39)	C24S	probably damaging	Het
Col6a5	A	T	9: 105,805,489 (GRCm39)	V1139D	unknown	Het
Ddx46	C	A	13: 55,802,885 (GRCm39)	S469*	probably null	Het
Ep300	A	G	15: 81,500,310 (GRCm39)		probably benign	Het
Fcna	A	T	2: 25,517,847 (GRCm39)	M1K	probably null	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gstm3	T	C	3: 107,874,973 (GRCm39)	E93G	probably damaging	Het
Gtse1	A	G	15: 85,755,748 (GRCm39)	T471A	probably benign	Het
Hepacam2	T	A	6: 3,487,117 (GRCm39)	Y4F	probably benign	Het
Hipk1	T	C	3: 103,651,320 (GRCm39)	I1148V	possibly damaging	Het
Il1r2	A	G	1: 40,141,613 (GRCm39)	T9A	possibly damaging	Het
Kl	A	T	5: 150,912,402 (GRCm39)	D717V	probably damaging	Het
Krt75	G	A	15: 101,478,599 (GRCm39)	T345M	possibly damaging	Het
Myo5a	T	A	9: 75,047,953 (GRCm39)	H260Q	probably damaging	Het
Nckap1l	G	A	15: 103,370,069 (GRCm39)	G156D	probably damaging	Het
Nlrp1b	T	G	11: 71,072,233 (GRCm39)	T537P	probably damaging	Het
Nudt17	A	G	3: 96,614,355 (GRCm39)	I201T	probably damaging	Het
Or5k3	T	C	16: 58,969,827 (GRCm39)	S205P	probably benign	Het
Or6c8	A	T	10: 128,915,172 (GRCm39)	I220N	probably damaging	Het
Or7g27	A	T	9: 19,250,628 (GRCm39)	S291C	probably damaging	Het
Padi6	T	C	4: 140,469,235 (GRCm39)	D35G	probably benign	Het
Plcb1	A	T	2: 135,062,711 (GRCm39)	Y107F	probably benign	Het
Plk2	A	G	13: 110,535,588 (GRCm39)	D470G	possibly damaging	Het
Ranbp17	T	C	11: 33,278,520 (GRCm39)	T116A	possibly damaging	Het
Rbck1	G	A	2: 152,160,236 (GRCm39)	P481L	probably damaging	Het
Reps1	A	G	10: 17,969,584 (GRCm39)	N229S	probably benign	Het
Rngtt	T	C	4: 33,339,073 (GRCm39)	W293R	probably damaging	Het
Robo1	A	T	16: 72,759,114 (GRCm39)	I376F	probably damaging	Het
Ryr2	T	A	13: 11,805,249 (GRCm39)	I872F	probably damaging	Het
Sgip1	T	C	4: 102,823,439 (GRCm39)	Y707H	probably damaging	Het
Slc17a5	G	T	9: 78,495,214 (GRCm39)	D12E	probably benign	Het
Slco1a5	T	A	6: 142,189,715 (GRCm39)		probably null	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Strap	A	G	6: 137,718,333 (GRCm39)	I146V	probably benign	Het
Tcim	A	T	8: 24,928,892 (GRCm39)	H7Q	probably benign	Het
Tgfbr3	A	G	5: 107,269,224 (GRCm39)		probably null	Het
Thada	G	T	17: 84,530,194 (GRCm39)	T1725N	probably benign	Het
Trhr	T	C	15: 44,060,540 (GRCm39)	V20A	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wnt5a	A	G	14: 28,240,519 (GRCm39)	N223S	probably damaging	Het

Other mutations in Plek2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Plek2	APN	12	78,941,727 (GRCm39)	missense	possibly damaging	0.68
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
R6474:Plek2	UTSW	12	78,943,065 (GRCm39)	missense	probably benign	0.08
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

Posted On

2014-05-07