Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03369:Plekho2'

420219

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekho2

Ensembl Gene

ENSMUSG00000050721

Gene Name

pleckstrin homology domain containing, family O member 2

Synonyms

Plekhq1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

IGL03369

Quality Score

Status

Chromosome

Chromosomal Location

65459980-65487322 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65466776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 105 (G105W)

Ref Sequence

ENSEMBL: ENSMUSP00000063677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068944]

AlphaFold

Q8K124

Predicted Effect

probably damaging
Transcript: ENSMUST00000068944
AA Change: G105W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063677
Gene: ENSMUSG00000050721
AA Change: G105W

Domain	Start	End	E-Value	Type
PH	19	122	3.15e-11	SMART
low complexity region	141	157	N/A	INTRINSIC
low complexity region	278	289	N/A	INTRINSIC
low complexity region	305	313	N/A	INTRINSIC
low complexity region	324	335	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214740

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,333,380 (GRCm39)	N72S	possibly damaging	Het
A2m	G	A	6: 121,653,862 (GRCm39)		probably null	Het
Angptl3	A	T	4: 98,923,057 (GRCm39)		probably benign	Het
Aox4	A	G	1: 58,301,746 (GRCm39)	D1106G	probably benign	Het
Capn13	G	A	17: 73,648,149 (GRCm39)		probably benign	Het
Cep250	A	G	2: 155,832,191 (GRCm39)	H1371R	probably benign	Het
Chrna1	A	T	2: 73,400,789 (GRCm39)	F247Y	probably benign	Het
Col2a1	T	C	15: 97,879,923 (GRCm39)	T813A	unknown	Het
Dab2	T	C	15: 6,464,790 (GRCm39)	V414A	possibly damaging	Het
Dach2	T	C	X: 112,465,937 (GRCm39)		probably benign	Het
Fap	A	G	2: 62,333,699 (GRCm39)		probably benign	Het
Fgd5	T	A	6: 91,965,396 (GRCm39)	V385D	probably damaging	Het
Fmnl1	A	G	11: 103,088,008 (GRCm39)		probably null	Het
Gorasp2	G	A	2: 70,513,336 (GRCm39)	G201D	probably damaging	Het
Gp2	T	A	7: 119,050,783 (GRCm39)	Q316L	probably damaging	Het
Gpx8	T	C	13: 113,179,696 (GRCm39)	I202V	probably damaging	Het
Gsta3	A	G	1: 21,335,173 (GRCm39)	K218R	probably benign	Het
Lama3	C	T	18: 12,686,340 (GRCm39)	T1195I	probably benign	Het
Map3k12	T	C	15: 102,410,514 (GRCm39)	R488G	possibly damaging	Het
Mapt	A	T	11: 104,173,259 (GRCm39)	Y18F	probably damaging	Het
Med21	T	C	6: 146,544,143 (GRCm39)	V12A	probably benign	Het
Mgat4b	A	G	11: 50,124,936 (GRCm39)	E457G	possibly damaging	Het
Mybl1	T	A	1: 9,742,780 (GRCm39)	K609N	probably damaging	Het
Ncaph2	T	G	15: 89,247,858 (GRCm39)	V75G	probably benign	Het
Neb	A	G	2: 52,068,049 (GRCm39)	Y5795H	probably benign	Het
Nup153	A	G	13: 46,854,459 (GRCm39)		probably null	Het
Or6c215	T	C	10: 129,638,340 (GRCm39)	D18G	probably damaging	Het
Or6y1	T	A	1: 174,276,435 (GRCm39)	I82N	probably damaging	Het
Plekhf2	G	T	4: 10,990,703 (GRCm39)	T213K	probably benign	Het
Polr3b	G	A	10: 84,512,816 (GRCm39)	G566D	probably damaging	Het
Rasgrf1	T	C	9: 89,892,504 (GRCm39)	I1068T	probably damaging	Het
Rnf213	A	T	11: 119,312,294 (GRCm39)	E907V	probably benign	Het
Runx1t1	C	T	4: 13,881,107 (GRCm39)	S469F	probably damaging	Het
Spata31e4	G	T	13: 50,857,200 (GRCm39)	C946F	possibly damaging	Het
Top1	A	T	2: 160,535,647 (GRCm39)	D182V	unknown	Het
Uckl1	T	C	2: 181,211,982 (GRCm39)	T375A	probably benign	Het
Usp53	A	T	3: 122,727,370 (GRCm39)		probably benign	Het
Vmn2r61	T	A	7: 41,909,517 (GRCm39)	I14N	probably benign	Het
Wbp4	A	T	14: 79,707,558 (GRCm39)	N184K	probably damaging	Het

Other mutations in Plekho2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Plekho2	APN	9	65,465,912 (GRCm39)	missense	probably damaging	1.00
IGL02938:Plekho2	APN	9	65,465,902 (GRCm39)	missense	possibly damaging	0.88
IGL03354:Plekho2	APN	9	65,466,703 (GRCm39)	missense	probably null	1.00
R0108:Plekho2	UTSW	9	65,466,705 (GRCm39)	missense	probably damaging	1.00
R0419:Plekho2	UTSW	9	65,464,334 (GRCm39)	missense	possibly damaging	0.79
R0930:Plekho2	UTSW	9	65,464,105 (GRCm39)	missense	possibly damaging	0.93
R1981:Plekho2	UTSW	9	65,465,974 (GRCm39)	missense	probably damaging	1.00
R5308:Plekho2	UTSW	9	65,465,957 (GRCm39)	missense	probably damaging	0.97
R5650:Plekho2	UTSW	9	65,464,018 (GRCm39)	missense	probably benign	0.02
R6529:Plekho2	UTSW	9	65,480,383 (GRCm39)	missense	probably benign	0.03
R6741:Plekho2	UTSW	9	65,471,197 (GRCm39)	missense	probably damaging	1.00
R7138:Plekho2	UTSW	9	65,463,635 (GRCm39)	missense	probably benign	0.01
R7684:Plekho2	UTSW	9	65,466,816 (GRCm39)	splice site	probably null
R8698:Plekho2	UTSW	9	65,463,554 (GRCm39)	missense	probably damaging	1.00
R8717:Plekho2	UTSW	9	65,464,058 (GRCm39)	missense	probably benign	0.00
R8845:Plekho2	UTSW	9	65,465,963 (GRCm39)	missense	probably damaging	1.00
R9331:Plekho2	UTSW	9	65,463,866 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02