Mutagenetix > Incidental Mutation

Incidental Mutation 'R4436:Plek'

329538

Institutional Source

Beutler Lab

Gene Symbol

Plek

Ensembl Gene

ENSMUSG00000020120

Gene Name

pleckstrin

Synonyms

2010300B13Rik

MMRRC Submission

041702-MU

Accession Numbers

Essential gene?

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

Stock #

R4436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16921206-16958718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16942972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 107 (Y107H)

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: Y107H

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020321
Gene: ENSMUSG00000020120
AA Change: Y107H

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

possibly damaging
Transcript: ENSMUST00000102881
AA Change: Y130H

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099945
Gene: ENSMUSG00000020120
AA Change: Y130H

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

Meta Mutation Damage Score

0.4126

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

96% (54/56)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Aff3	T	C	1: 38,248,768 (GRCm39)	I779V	possibly damaging	Het
Asap1	T	G	15: 64,221,692 (GRCm39)	D15A	probably benign	Het
Ascc2	A	G	11: 4,606,305 (GRCm39)	D193G	probably damaging	Het
Bcl2a1d	A	T	9: 88,613,753 (GRCm39)	M7K	probably benign	Het
Ccdc168	T	C	1: 44,095,276 (GRCm39)	I1941V	probably benign	Het
Ccdc85a	T	C	11: 28,526,457 (GRCm39)	T384A	probably benign	Het
Cd86	T	C	16: 36,441,194 (GRCm39)	N91S	probably benign	Het
Cdk17	T	A	10: 93,047,758 (GRCm39)		probably null	Het
Cemip	T	C	7: 83,636,637 (GRCm39)	D332G	probably null	Het
Ces2f	G	A	8: 105,679,788 (GRCm39)	R427H	probably benign	Het
Clec4a2	G	A	6: 123,105,013 (GRCm39)		probably null	Het
Coa8	T	A	12: 111,717,642 (GRCm39)	D167E	probably benign	Het
Coq9	T	C	8: 95,579,743 (GRCm39)	F198L	probably benign	Het
Ddx24	C	A	12: 103,390,233 (GRCm39)	A253S	probably damaging	Het
Esyt3	A	T	9: 99,240,078 (GRCm39)		probably benign	Het
Fat2	C	A	11: 55,187,024 (GRCm39)	G1274V	probably damaging	Het
Ggn	A	T	7: 28,870,976 (GRCm39)	T132S	probably damaging	Het
Gm11568	T	A	11: 99,749,421 (GRCm39)	C209S	unknown	Het
Gm6931	T	A	16: 49,245,225 (GRCm39)		noncoding transcript	Het
Gpr20	C	T	15: 73,567,649 (GRCm39)	V247I	probably benign	Het
Grm8	A	T	6: 27,761,237 (GRCm39)	V329E	possibly damaging	Het
Gtf2ird2	T	C	5: 134,223,808 (GRCm39)	L114P	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hivep3	C	T	4: 119,953,120 (GRCm39)	P479S	probably benign	Het
Igkv6-20	A	G	6: 70,313,104 (GRCm39)	V23A	probably damaging	Het
Ikbip	T	A	10: 90,937,751 (GRCm39)	N141K	probably damaging	Het
Irag1	T	C	7: 110,476,124 (GRCm39)	E815G	probably damaging	Het
Krt77	A	T	15: 101,773,904 (GRCm39)	V250E	probably damaging	Het
Ltn1	A	T	16: 87,202,502 (GRCm39)	C1050S	probably benign	Het
Macf1	T	C	4: 123,421,135 (GRCm39)	I40V	probably benign	Het
Or2h2b-ps1	A	G	17: 37,480,727 (GRCm39)	F271L	probably benign	Het
Or4k15b	T	C	14: 50,272,287 (GRCm39)	D191G	probably damaging	Het
Pi4ka	T	C	16: 17,100,246 (GRCm39)	M1885V	probably damaging	Het
Ppp1r15a	C	T	7: 45,174,203 (GRCm39)	V202M	probably damaging	Het
Ppp1r3e	C	A	14: 55,114,007 (GRCm39)	A222S	probably benign	Het
Rac2	G	T	15: 78,454,943 (GRCm39)	Y32*	probably null	Het
Sdf4	T	G	4: 156,093,404 (GRCm39)		probably null	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Spic	T	A	10: 88,512,817 (GRCm39)	R111S	probably benign	Het
Ssh3	A	G	19: 4,315,394 (GRCm39)	F315L	probably damaging	Het
Ttn	T	C	2: 76,595,253 (GRCm39)	K11972R	probably damaging	Het
Tubd1	C	T	11: 86,439,745 (GRCm39)	S30F	probably benign	Het
Vmn1r17	G	C	6: 57,337,719 (GRCm39)	I166M	possibly damaging	Het
Vmn2r94	T	C	17: 18,478,645 (GRCm39)	Y34C	probably damaging	Het
Xpo7	G	A	14: 70,906,869 (GRCm39)	T945M	probably damaging	Het
Zfp316	C	A	5: 143,239,803 (GRCm39)	A739S	probably damaging	Het
Zswim3	T	A	2: 164,662,563 (GRCm39)	C348S	probably benign	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
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'- ATAGCTGTGATTCTGAAGTCTTGC -3'
(R):5'- ATGTAAGTTGGAACACTGCCC -3'

Sequencing Primer
(F):5'- GTGATTCTGAAGTCTTGCACAAAAAC -3'
(R):5'- GTAAGTTGGAACACTGCCCTTTCAC -3'

Posted On

2015-07-21