Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02357:Plek'

290578

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plek

Ensembl Gene

ENSMUSG00000020120

Gene Name

pleckstrin

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

IGL02357

Quality Score

Status

Chromosome

Chromosomal Location

16971206-17052381 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16981846 bp

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]

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110035E14Rik	T	C	1: 9,613,319	I44T	possibly damaging	Het
Abhd8	A	G	8: 71,461,477	V169A	probably benign	Het
Adamts16	T	A	13: 70,738,585	T1029S	probably benign	Het
Adgrv1	C	A	13: 81,270,855	C6007F	probably benign	Het
Ak8	A	T	2: 28,700,213	H8L	probably benign	Het
Apol7b	A	G	15: 77,423,632	V221A	probably benign	Het
BC005624	G	A	2: 30,973,767	P235S	probably benign	Het
Casp9	C	A	4: 141,805,472	D226E	probably benign	Het
Cd96	A	G	16: 46,069,776		probably benign	Het
Celf1	A	T	2: 90,998,588	K27I	probably damaging	Het
Cfap65	A	T	1: 74,928,348	C190*	probably null	Het
Cib2	A	T	9: 54,549,886	H31Q	probably damaging	Het
Cyp3a59	T	C	5: 146,079,342	L3P	probably damaging	Het
Dnajc13	T	C	9: 104,162,359	M2104V	possibly damaging	Het
Emb	A	G	13: 117,249,471		probably benign	Het
Fbn2	G	T	18: 58,103,995	N645K	possibly damaging	Het
Fes	T	C	7: 80,383,830		probably null	Het
Flnc	A	T	6: 29,438,493	K129*	probably null	Het
Gckr	C	A	5: 31,307,790	H368N	possibly damaging	Het
Gm5145	A	T	17: 20,570,440	I27F	probably damaging	Het
Hecw1	A	G	13: 14,248,338		probably null	Het
Hook2	C	T	8: 84,994,985	Q291*	probably null	Het
Jakmip2	T	C	18: 43,547,127	T722A	possibly damaging	Het
Kcnt2	A	G	1: 140,351,269	I53V	probably benign	Het
Lipo2	A	G	19: 33,730,948	L222P	possibly damaging	Het
Mrc2	A	G	11: 105,325,721	D112G	probably damaging	Het
Mroh2b	A	G	15: 4,912,000	N338S	probably benign	Het
Mrpl23	T	A	7: 142,536,065		probably benign	Het
Myo18a	A	G	11: 77,850,247	N1442S	probably benign	Het
Ngdn	T	A	14: 55,021,936	V179E	probably damaging	Het
Nxn	A	G	11: 76,274,654		probably benign	Het
Olfr1349	T	A	7: 6,515,226	M68L	probably damaging	Het
Olfr1535	A	G	13: 21,555,602	L140P	probably damaging	Het
Osmr	A	T	15: 6,828,663	N441K	probably benign	Het
Plcb3	A	C	19: 6,958,178	L789R	probably damaging	Het
Pmp22	G	T	11: 63,158,308	V126F	probably benign	Het
Prom1	A	G	5: 44,029,604		probably benign	Het
Prss1	C	A	6: 41,463,205	Q159K	probably damaging	Het
Psd3	G	T	8: 67,963,869	H459N	probably benign	Het
Rusc2	T	G	4: 43,425,351	V1152G	possibly damaging	Het
Slc16a4	A	G	3: 107,303,099	I362V	probably benign	Het
Slc22a22	A	G	15: 57,247,448	V461A	probably benign	Het
Slc35e4	C	T	11: 3,912,640	R183Q	probably benign	Het
Spen	T	C	4: 141,477,579	T1246A	unknown	Het
Syt16	T	C	12: 74,266,842	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,652,428	V79A	possibly damaging	Het
Tpgs1	A	G	10: 79,675,759	D245G	probably benign	Het
Ttn	A	G	2: 76,709,619	V34341A	probably benign	Het
Wwox	T	C	8: 114,712,142	V316A	possibly damaging	Het

Other mutations in Plek

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02350:Plek	APN	11	16981846	missense	probably damaging	1.00
IGL02982:Plek	APN	11	16981826	missense	probably damaging	1.00
IGL03184:Plek	APN	11	16981887	missense	probably benign
IGL03243:Plek	APN	11	16995319	missense	possibly damaging	0.47
PIT4402001:Plek	UTSW	11	16990121	missense	probably benign
R0025:Plek	UTSW	11	16985594	missense	probably damaging	1.00
R1756:Plek	UTSW	11	16992901	missense	probably damaging	1.00
R1881:Plek	UTSW	11	16990111	missense	probably benign	0.08
R2940:Plek	UTSW	11	16992887	critical splice donor site	probably null
R3426:Plek	UTSW	11	16990142	missense	probably damaging	0.99
R4436:Plek	UTSW	11	16992972	missense	probably damaging	0.97
R4463:Plek	UTSW	11	16981873	missense	possibly damaging	0.95
R4475:Plek	UTSW	11	16985528	critical splice donor site	probably null
R4998:Plek	UTSW	11	16983194	critical splice donor site	probably null
R5050:Plek	UTSW	11	16995216	missense	probably damaging	0.98
R6108:Plek	UTSW	11	16990058	missense	probably damaging	0.98
R6159:Plek	UTSW	11	16985539	missense	probably damaging	0.96
R6185:Plek	UTSW	11	16981829	missense	probably damaging	1.00
R7011:Plek	UTSW	11	16994760	missense	possibly damaging	0.86
R7017:Plek	UTSW	11	17052220	start gained	probably benign
R7317:Plek	UTSW	11	16994739	missense	probably benign	0.06
R7890:Plek	UTSW	11	16995238	missense	probably benign
R8334:Plek	UTSW	11	16983220	missense	probably benign	0.09
R8440:Plek	UTSW	11	16995276	missense	possibly damaging	0.87

Posted On

2015-04-16