Mutagenetix > Incidental Mutation

Incidental Mutation 'R2940:Plek'

255145

Institutional Source

Beutler Lab

Gene Symbol

Plek

Ensembl Gene

ENSMUSG00000020120

Gene Name

pleckstrin

Synonyms

2010300B13Rik

MMRRC Submission

040517-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R2940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16921206-16958718 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 16942887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020321] [ENSMUST00000102881] [ENSMUST00000156101]

AlphaFold

Q9JHK5

PDB Structure

Solution structure of the DEP domain of mouse pleckstrin [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000020321

SMART Domains

Protein: ENSMUSP00000020321
Gene: ENSMUSG00000020120

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 null
Transcript: ENSMUST00000102881

SMART Domains

Protein: ENSMUSP00000099945
Gene: ENSMUSG00000020120

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156101

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	G	13: 68,878,424 (GRCm39)	W405R	probably damaging	Het
Apc	G	A	18: 34,409,723 (GRCm39)	R221H	probably damaging	Het
Armcx6	A	T	X: 133,650,625 (GRCm39)	W69R	probably damaging	Het
Bltp1	A	G	3: 37,012,954 (GRCm39)	D1878G	probably damaging	Het
Carm1	C	A	9: 21,490,692 (GRCm39)		probably null	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Cngb1	T	C	8: 95,978,735 (GRCm39)	I573V	probably benign	Het
Crybg2	A	G	4: 133,809,745 (GRCm39)	H1517R	possibly damaging	Het
Dixdc1	G	A	9: 50,622,259 (GRCm39)	A25V	probably damaging	Het
Dmap1	G	A	4: 117,533,202 (GRCm39)	T284M	possibly damaging	Het
Dock6	A	G	9: 21,750,496 (GRCm39)	F473L	possibly damaging	Het
Eif3a	T	C	19: 60,762,115 (GRCm39)	T487A	probably benign	Het
Faiml	A	G	9: 99,114,527 (GRCm39)	C121R	probably damaging	Het
Fam180a	A	T	6: 35,290,564 (GRCm39)	S140T	possibly damaging	Het
Fibcd1	T	C	2: 31,707,276 (GRCm39)	Y327C	probably damaging	Het
Haghl	A	G	17: 26,004,060 (GRCm39)	V8A	possibly damaging	Het
Igfbp1	A	G	11: 7,151,970 (GRCm39)	T258A	probably benign	Het
Isl1	T	C	13: 116,444,835 (GRCm39)	T65A	possibly damaging	Het
Khdrbs3	T	A	15: 68,921,239 (GRCm39)	D185E	probably damaging	Het
Klc1	C	T	12: 111,772,451 (GRCm39)	R157C	possibly damaging	Het
Lamc3	A	G	2: 31,830,714 (GRCm39)	S1484G	probably benign	Het
Lman1	G	T	18: 66,117,344 (GRCm39)	P466Q	possibly damaging	Het
Map3k4	C	T	17: 12,480,157 (GRCm39)	E682K	probably damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nbea	C	G	3: 55,842,045 (GRCm39)	E1879Q	probably benign	Het
Or8b12i	C	A	9: 20,082,061 (GRCm39)	G269W	probably benign	Het
Or8g34	G	A	9: 39,373,226 (GRCm39)	M166I	probably benign	Het
Pigc	T	C	1: 161,798,239 (GRCm39)	Y74H	possibly damaging	Het
Pramel28	A	G	4: 143,693,247 (GRCm39)	V77A	probably benign	Het
Rasgrf1	C	T	9: 89,873,767 (GRCm39)	A692V	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rnf25	A	G	1: 74,635,047 (GRCm39)	V135A	possibly damaging	Het
Senp6	G	A	9: 80,051,124 (GRCm39)	A1134T	probably benign	Het
Sh3rf2	G	A	18: 42,244,505 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,122,757 (GRCm39)	D506G	probably damaging	Het
Slc13a1	T	A	6: 24,090,779 (GRCm39)	I547F	possibly damaging	Het
Slc26a6	G	A	9: 108,734,236 (GRCm39)	V206I	probably benign	Het
Smc1a	T	A	X: 150,816,695 (GRCm39)	Y516N	probably damaging	Het
Sorbs1	T	C	19: 40,362,015 (GRCm39)	D123G	probably damaging	Het
Tecta	A	T	9: 42,289,290 (GRCm39)	M425K	possibly damaging	Het
Trpv1	A	G	11: 73,145,675 (GRCm39)	K403R	probably damaging	Het
Ttc39d	A	G	17: 80,524,982 (GRCm39)	Y547C	probably damaging	Het
Tubb6	A	G	18: 67,534,994 (GRCm39)	N298D	probably damaging	Het
Xpo7	G	T	14: 70,904,577 (GRCm39)	L1020I	probably benign	Het
Xpo7	A	T	14: 70,904,576 (GRCm39)	L1020Q	probably damaging	Het
Zswim4	A	T	8: 84,950,377 (GRCm39)	L611Q	probably damaging	Het

Other mutations in Plek

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R6159:Plek	UTSW	11	16,935,539 (GRCm39)	missense	probably damaging	0.96
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'- TTGCAGTACATCGAGCTGTG -3'
(R):5'- CTTGTGAAGGCCCATCTGAG -3'

Sequencing Primer
(F):5'- GAGCTGTGCCCCTTTCCAATAC -3'
(R):5'- AAGGCCCATCTGAGGTAGTTCAC -3'

Posted On

2014-12-29