Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL03369

Quality Score

Status

Chromosome

Chromosomal Location

65552698-65580040 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65559494 bp

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]

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: 124,356,421	N72S	possibly damaging	Het
A2m	G	A	6: 121,676,903		probably null	Het
Angptl3	A	T	4: 99,034,820		probably benign	Het
Aox4	A	G	1: 58,262,587	D1106G	probably benign	Het
Capn13	G	A	17: 73,341,154		probably benign	Het
Cep250	A	G	2: 155,990,271	H1371R	probably benign	Het
Chrna1	A	T	2: 73,570,445	F247Y	probably benign	Het
Col2a1	T	C	15: 97,982,042	T813A	unknown	Het
Dab2	T	C	15: 6,435,309	V414A	possibly damaging	Het
Dach2	T	C	X: 113,556,240		probably benign	Het
Fap	A	G	2: 62,503,355		probably benign	Het
Fgd5	T	A	6: 91,988,415	V385D	probably damaging	Het
Fmnl1	A	G	11: 103,197,182		probably null	Het
Gm8765	G	T	13: 50,703,164	C946F	possibly damaging	Het
Gorasp2	G	A	2: 70,682,992	G201D	probably damaging	Het
Gp2	T	A	7: 119,451,560	Q316L	probably damaging	Het
Gpx8	T	C	13: 113,043,162	I202V	probably damaging	Het
Gsta3	A	G	1: 21,264,949	K218R	probably benign	Het
Lama3	C	T	18: 12,553,283	T1195I	probably benign	Het
Map3k12	T	C	15: 102,502,079	R488G	possibly damaging	Het
Mapt	A	T	11: 104,282,433	Y18F	probably damaging	Het
Med21	T	C	6: 146,642,645	V12A	probably benign	Het
Mgat4b	A	G	11: 50,234,109	E457G	possibly damaging	Het
Mybl1	T	A	1: 9,672,555	K609N	probably damaging	Het
Ncaph2	T	G	15: 89,363,655	V75G	probably benign	Het
Neb	A	G	2: 52,178,037	Y5795H	probably benign	Het
Nup153	A	G	13: 46,700,983		probably null	Het
Olfr220	T	A	1: 174,448,869	I82N	probably damaging	Het
Olfr811	T	C	10: 129,802,471	D18G	probably damaging	Het
Plekhf2	G	T	4: 10,990,703	T213K	probably benign	Het
Polr3b	G	A	10: 84,676,952	G566D	probably damaging	Het
Rasgrf1	T	C	9: 90,010,451	I1068T	probably damaging	Het
Rnf213	A	T	11: 119,421,468	E907V	probably benign	Het
Runx1t1	C	T	4: 13,881,107	S469F	probably damaging	Het
Top1	A	T	2: 160,693,727	D182V	unknown	Het
Uckl1	T	C	2: 181,570,189	T375A	probably benign	Het
Usp53	A	T	3: 122,933,721		probably benign	Het
Vmn2r61	T	A	7: 42,260,093	I14N	probably benign	Het
Wbp4	A	T	14: 79,470,118	N184K	probably damaging	Het

Other mutations in Plekho2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Plekho2	APN	9	65558630	missense	probably damaging	1.00
IGL02938:Plekho2	APN	9	65558620	missense	possibly damaging	0.88
IGL03354:Plekho2	APN	9	65559421	missense	probably null	1.00
R0108:Plekho2	UTSW	9	65559423	missense	probably damaging	1.00
R0419:Plekho2	UTSW	9	65557052	missense	possibly damaging	0.79
R0930:Plekho2	UTSW	9	65556823	missense	possibly damaging	0.93
R1981:Plekho2	UTSW	9	65558692	missense	probably damaging	1.00
R5308:Plekho2	UTSW	9	65558675	missense	probably damaging	0.97
R5650:Plekho2	UTSW	9	65556736	missense	probably benign	0.02
R6529:Plekho2	UTSW	9	65573101	missense	probably benign	0.03
R6741:Plekho2	UTSW	9	65563915	missense	probably damaging	1.00
R7138:Plekho2	UTSW	9	65556353	missense	probably benign	0.01

Posted On

2016-08-02