Mutagenetix > Incidental Mutation

Incidental Mutation 'R5050:Plek'

394600

Institutional Source

Beutler Lab

Gene Symbol

Plek

Ensembl Gene

ENSMUSG00000020120

Gene Name

pleckstrin

Synonyms

2010300B13Rik

MMRRC Submission

042640-MU

Accession Numbers

Essential gene?

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

Stock #

R5050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16921206-16958718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16945216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 38 (D38G)

Ref Sequence

ENSEMBL: ENSMUSP00000020321 (fasta)

Gene Model

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

AlphaFold

Q9JHK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020321
AA Change: D38G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020321
Gene: ENSMUSG00000020120
AA Change: D38G

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 benign
Transcript: ENSMUST00000102881
AA Change: D61G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099945
Gene: ENSMUSG00000020120
AA Change: D61G

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
AA Change: D38G

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.6368

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (69/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,989,822 (GRCm39)		probably benign	Het
Ap3m1	A	G	14: 21,094,843 (GRCm39)	I108T	probably benign	Het
Apobec1	T	C	6: 122,568,061 (GRCm39)	M1V	probably null	Het
Aqr	A	T	2: 113,943,090 (GRCm39)	L1161*	probably null	Het
Aqr	A	T	2: 114,000,506 (GRCm39)		probably null	Het
Arhgef37	A	G	18: 61,637,402 (GRCm39)	I420T	probably benign	Het
Cacna1g	C	T	11: 94,350,541 (GRCm39)	E435K	probably damaging	Het
Card6	G	T	15: 5,129,858 (GRCm39)	H513N	probably benign	Het
Ccdc158	A	C	5: 92,814,738 (GRCm39)	F29L	probably benign	Het
Ccr6	T	C	17: 8,474,936 (GRCm39)	L47S	probably damaging	Het
Cdc42bpa	T	A	1: 179,900,018 (GRCm39)	Y444*	probably null	Het
Cdh17	A	G	4: 11,784,654 (GRCm39)	Y270C	probably damaging	Het
Cdh9	T	C	15: 16,778,233 (GRCm39)	F16S	probably benign	Het
Cdkl1	T	C	12: 69,804,014 (GRCm39)	K141R	probably damaging	Het
Cfhr4	T	A	1: 139,664,578 (GRCm39)	I494F	probably damaging	Het
Chd4	T	C	6: 125,084,443 (GRCm39)	Y692H	probably damaging	Het
Dhrs7	T	A	12: 72,704,184 (GRCm39)	D104V	probably damaging	Het
Dhtkd1	A	T	2: 5,922,500 (GRCm39)	L553Q	probably benign	Het
Dnah7a	T	G	1: 53,536,255 (GRCm39)	D2596A	probably benign	Het
Dync1li2	T	C	8: 105,164,073 (GRCm39)	K151E	probably damaging	Het
Eno4	C	T	19: 58,943,928 (GRCm39)	H297Y	probably benign	Het
Epg5	T	A	18: 78,019,156 (GRCm39)	D976E	possibly damaging	Het
Fhip2a	T	A	19: 57,371,602 (GRCm39)	F571L	probably damaging	Het
Gm4553	C	A	7: 141,718,773 (GRCm39)	K218N	unknown	Het
Gpld1	A	T	13: 25,146,739 (GRCm39)	T234S	probably benign	Het
Gtpbp6	A	T	5: 110,252,567 (GRCm39)		probably benign	Het
Gucy2g	T	C	19: 55,229,367 (GRCm39)	E101G	probably benign	Het
Gvin3	T	C	7: 106,196,179 (GRCm39)		noncoding transcript	Het
Hira	G	A	16: 18,744,609 (GRCm39)	R442K	possibly damaging	Het
Hrh3	A	G	2: 179,742,350 (GRCm39)	L394P	probably damaging	Het
Igkv1-110	T	A	6: 68,248,176 (GRCm39)	F95Y	probably damaging	Het
Iqgap3	T	G	3: 87,997,493 (GRCm39)	V223G	probably damaging	Het
Itpk1	T	C	12: 102,671,069 (GRCm39)	T3A	probably damaging	Het
Jag1	A	G	2: 136,927,074 (GRCm39)	V895A	possibly damaging	Het
Kazn	G	A	4: 141,845,514 (GRCm39)		probably benign	Het
Large2	A	T	2: 92,198,124 (GRCm39)	L282Q	probably benign	Het
Lgmn	A	G	12: 102,369,680 (GRCm39)		probably null	Het
Lrp4	A	T	2: 91,322,767 (GRCm39)	I1119F	probably benign	Het
Map3k19	T	C	1: 127,751,299 (GRCm39)	H684R	probably benign	Het
Mier3	C	T	13: 111,851,107 (GRCm39)	A367V	possibly damaging	Het
Mpdz	A	G	4: 81,213,685 (GRCm39)	V1579A	probably benign	Het
Mroh2b	A	T	15: 4,929,932 (GRCm39)	D6V	possibly damaging	Het
Myh7b	A	G	2: 155,473,670 (GRCm39)	I1568V	probably benign	Het
Or52e8b	T	A	7: 104,673,594 (GRCm39)	I198F	probably damaging	Het
Plch2	C	T	4: 155,127,766 (GRCm39)		probably benign	Het
Polr2f	A	G	15: 79,028,862 (GRCm39)		probably benign	Het
Samsn1	A	G	16: 75,685,645 (GRCm39)	S38P	probably benign	Het
Sf1	C	T	19: 6,422,589 (GRCm39)	T248I	probably damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Sharpin	A	T	15: 76,232,530 (GRCm39)	L160H	probably damaging	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Syn3	T	C	10: 86,243,532 (GRCm39)	T136A	probably benign	Het
Tcam1	G	A	11: 106,176,278 (GRCm39)	V335M	possibly damaging	Het
Tedc1	G	T	12: 113,120,325 (GRCm39)	V56L	possibly damaging	Het
Tenm4	T	C	7: 96,544,995 (GRCm39)	L2337P	probably damaging	Het
Ttn	G	A	2: 76,715,155 (GRCm39)		probably benign	Het
Tysnd1	T	A	10: 61,532,050 (GRCm39)	I234N	probably damaging	Het
Vmn2r51	T	C	7: 9,834,349 (GRCm39)	K230E	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
R2940:Plek	UTSW	11	16,942,887 (GRCm39)	critical splice donor site	probably null
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
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'- CTCCAAGGTCAGCAGGTAAC -3'
(R):5'- ACAAATTCTCCTGTCCATGCTAAC -3'

Sequencing Primer
(F):5'- GCCCATAAACTGAGCCTTAAGAATGG -3'
(R):5'- AATTCTCCTGTCCATGCTAACTTCTC -3'

Posted On

2016-06-15