Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03184:Plek'

412400

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plek

Ensembl Gene

ENSMUSG00000020120

Gene Name

pleckstrin

Synonyms

2010300B13Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03184

Quality Score

Status

Chromosome

Chromosomal Location

16921206-16958718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16931887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 321 (D321E)

Ref Sequence

ENSEMBL: ENSMUSP00000099945 (fasta)

Gene Model

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

AlphaFold

Q9JHK5

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020321
AA Change: D298E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020321
Gene: ENSMUSG00000020120
AA Change: D298E

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: D321E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099945
Gene: ENSMUSG00000020120
AA Change: D321E

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,570 (GRCm39)	Y992H	possibly damaging	Het
Actmap	A	G	7: 26,896,432 (GRCm39)		probably benign	Het
Adcy7	T	A	8: 89,035,271 (GRCm39)	D58E	probably benign	Het
Aff2	G	A	X: 68,810,840 (GRCm39)	V404M	possibly damaging	Het
Ankhd1	T	A	18: 36,780,830 (GRCm39)	L1961M	probably damaging	Het
Brms1l	T	C	12: 55,915,062 (GRCm39)	*324Q	probably null	Het
Bub1b	T	C	2: 118,440,258 (GRCm39)		probably benign	Het
Cacna1b	A	G	2: 24,548,501 (GRCm39)		probably null	Het
Clrn1	T	A	3: 58,753,645 (GRCm39)	T239S	probably benign	Het
Clta	T	C	4: 44,025,514 (GRCm39)	Y145H	probably benign	Het
Coro6	T	C	11: 77,354,779 (GRCm39)	V14A	probably damaging	Het
Cyp4a30b	A	G	4: 115,316,216 (GRCm39)	D314G	probably damaging	Het
Fn1	T	C	1: 71,648,656 (GRCm39)	N1418D	probably benign	Het
Fshr	A	C	17: 89,354,068 (GRCm39)	L97V	possibly damaging	Het
Gcm2	T	C	13: 41,258,888 (GRCm39)	Q152R	probably damaging	Het
Gcnt2	A	G	13: 41,041,660 (GRCm39)	N273S	probably benign	Het
Gm11437	A	T	11: 84,047,090 (GRCm39)		probably benign	Het
Gm4559	A	G	7: 141,828,046 (GRCm39)	S19P	unknown	Het
Igsf8	T	G	1: 172,146,199 (GRCm39)	I462R	probably damaging	Het
Kirrel3	T	C	9: 34,919,052 (GRCm39)	F243S	probably damaging	Het
Krt80	C	T	15: 101,250,135 (GRCm39)	V37M	probably damaging	Het
Lama4	T	C	10: 38,954,839 (GRCm39)	Y1131H	probably damaging	Het
Mrpl21	T	C	19: 3,342,529 (GRCm39)		probably benign	Het
Mtcl1	T	C	17: 66,661,209 (GRCm39)	N923S	probably benign	Het
Nectin2	G	A	7: 19,472,231 (GRCm39)	P53S	possibly damaging	Het
Nup98	G	A	7: 101,832,752 (GRCm39)	T335I	probably damaging	Het
Or2y1e	C	A	11: 49,218,568 (GRCm39)	T110K	probably damaging	Het
Or4a74	T	C	2: 89,439,912 (GRCm39)	D178G	probably damaging	Het
Or4e5	A	G	14: 52,728,380 (GRCm39)	S14P	probably benign	Het
Or51a42	T	A	7: 103,708,054 (GRCm39)	I252F	probably damaging	Het
Or6c69c	T	C	10: 129,910,627 (GRCm39)	M116T	possibly damaging	Het
Pcdhb14	A	G	18: 37,582,085 (GRCm39)	E397G	probably benign	Het
Pcgf5	T	G	19: 36,412,076 (GRCm39)		probably benign	Het
Pclo	C	T	5: 14,764,457 (GRCm39)	P1025L	probably damaging	Het
Pdcd1lg2	C	A	19: 29,431,911 (GRCm39)	F226L	probably benign	Het
Pik3ca	T	A	3: 32,494,035 (GRCm39)	S332R	probably benign	Het
Pm20d2	A	G	4: 33,179,241 (GRCm39)	F333L	probably damaging	Het
Polk	T	C	13: 96,620,491 (GRCm39)	T570A	probably benign	Het
Rpgrip1l	G	A	8: 92,027,437 (GRCm39)	L201F	probably damaging	Het
Serpinb2	T	A	1: 107,452,607 (GRCm39)	L395H	probably damaging	Het
Slc9c1	T	G	16: 45,368,003 (GRCm39)	S197R	probably damaging	Het
Smg1	T	A	7: 117,779,603 (GRCm39)	E1264V	possibly damaging	Het
Sned1	A	G	1: 93,202,390 (GRCm39)	D678G	probably benign	Het
Sorcs2	A	G	5: 36,188,556 (GRCm39)	S851P	probably benign	Het
Srcap	A	G	7: 127,129,674 (GRCm39)		probably benign	Het
Tbck	T	C	3: 132,441,864 (GRCm39)	Y557H	probably damaging	Het
Tfap2d	T	C	1: 19,189,110 (GRCm39)	S219P	probably damaging	Het
Trim9	T	C	12: 70,297,995 (GRCm39)	D570G	probably damaging	Het
Usp25	A	G	16: 76,878,541 (GRCm39)	Y655C	probably damaging	Het
Utrn	T	A	10: 12,585,910 (GRCm39)	T956S	probably benign	Het
Vmn1r68	T	A	7: 10,261,799 (GRCm39)	I100F	probably benign	Het
Vps13a	A	T	19: 16,631,734 (GRCm39)	S2634T	probably benign	Het
Zfp472	T	A	17: 33,196,390 (GRCm39)	L155*	probably null	Het
Zfp808	A	G	13: 62,317,381 (GRCm39)	I43M	possibly 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
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
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

Posted On

2016-08-02