Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00955:Kcnh2'

27477

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnh2

Ensembl Gene

ENSMUSG00000038319

Gene Name

potassium voltage-gated channel, subfamily H (eag-related), member 2

Synonyms

merg1a, M-erg, Lqt2, ERG1, ether a go-go related, merg1b, LQT

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.641) question?

Stock #

IGL00955

Quality Score

Status

Chromosome

Chromosomal Location

24319589-24351604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24324966 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 372 (D372G)

Ref Sequence

ENSEMBL: ENSMUSP00000110750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036092] [ENSMUST00000115098]

Predicted Effect

probably damaging
Transcript: ENSMUST00000036092
AA Change: D714G

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

SMART Domains

Protein: ENSMUSP00000047705
Gene: ENSMUSG00000038319
AA Change: D714G

Domain	Start	End	E-Value	Type
PAS	13	87	9.54e0	SMART
PAC	93	135	1.31e-5	SMART
low complexity region	194	199	N/A	INTRINSIC
Pfam:Ion_trans	409	673	7.8e-38	PFAM
Pfam:Ion_trans_2	600	667	3.2e-13	PFAM
cNMP	744	862	1.15e-24	SMART
low complexity region	885	896	N/A	INTRINSIC
low complexity region	925	956	N/A	INTRINSIC
low complexity region	965	982	N/A	INTRINSIC
coiled coil region	1035	1069	N/A	INTRINSIC
low complexity region	1082	1108	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115098
AA Change: D372G

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

SMART Domains

Protein: ENSMUSP00000110750
Gene: ENSMUSG00000038319
AA Change: D372G

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	114	319	1.4e-22	PFAM
Pfam:Ion_trans_2	257	325	2.9e-14	PFAM
cNMP	402	520	1.15e-24	SMART
low complexity region	543	554	N/A	INTRINSIC
low complexity region	583	614	N/A	INTRINSIC
low complexity region	623	640	N/A	INTRINSIC
coiled coil region	693	727	N/A	INTRINSIC
low complexity region	740	766	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142197

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice which maintain expression of the A isoform and lack expression of the B isoform are predisposed to episodic sinus bradycardia. Mice with mutations causing defects in both isoforms are embryonic lethal with defects in cardiac development and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl11	A	T	14: 61,311,242	Q167L	probably benign	Het
Ces3a	T	A	8: 105,050,570	V175E	probably damaging	Het
Cherp	C	T	8: 72,470,194	E140K	probably damaging	Het
Clpx	A	T	9: 65,324,270	T546S	probably damaging	Het
Csgalnact2	A	G	6: 118,129,264	L31P	probably damaging	Het
Cxcr1	A	T	1: 74,192,220	F214L	probably benign	Het
Cyp2c67	T	A	19: 39,643,385	T123S	possibly damaging	Het
Dbt	G	A	3: 116,546,114	G384S	probably benign	Het
Dzank1	G	A	2: 144,490,174	T414I	probably benign	Het
Erich3	A	G	3: 154,748,519	I641V	probably benign	Het
Gtf2e1	A	T	16: 37,535,920	D83E	possibly damaging	Het
Hars2	T	C	18: 36,789,357		probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Kcnk2	A	T	1: 189,243,014	I264N	probably damaging	Het
Kctd4	A	G	14: 75,963,228	D213G	probably damaging	Het
Lhx9	T	C	1: 138,828,680	T323A	possibly damaging	Het
Lilra6	C	A	7: 3,911,404		probably benign	Het
Meig1	T	C	2: 3,409,274	D63G	probably damaging	Het
Mov10l1	A	G	15: 88,994,989	Y184C	probably damaging	Het
Mrpl24	T	A	3: 87,922,219	L91*	probably null	Het
Mup11	C	T	4: 60,659,550	R175H	probably benign	Het
Nbea	T	C	3: 56,005,472	K965E	possibly damaging	Het
Olfr598	C	A	7: 103,329,321	H278Q	probably damaging	Het
Papss1	G	A	3: 131,599,949	E252K	probably benign	Het
Robo2	A	T	16: 74,015,972	L278Q	probably damaging	Het
Sned1	A	T	1: 93,274,403	I638F	probably damaging	Het
Spin1	T	C	13: 51,144,541		probably null	Het
Taar9	T	C	10: 24,109,531	T2A	probably benign	Het
Tbc1d8b	T	C	X: 139,725,880		probably null	Het

Other mutations in Kcnh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01536:Kcnh2	APN	5	24326524	missense	probably damaging	1.00
IGL02305:Kcnh2	APN	5	24322660	missense	possibly damaging	0.86
IGL02379:Kcnh2	APN	5	24326638	missense	probably damaging	1.00
IGL03100:Kcnh2	APN	5	24322684	missense	probably damaging	1.00
IGL03326:Kcnh2	APN	5	24326413	missense	probably damaging	1.00
R0077:Kcnh2	UTSW	5	24322702	missense	probably benign	0.11
R0349:Kcnh2	UTSW	5	24351237	missense	probably benign	0.18
R0959:Kcnh2	UTSW	5	24322672	missense	probably damaging	1.00
R0960:Kcnh2	UTSW	5	24322672	missense	probably damaging	1.00
R0963:Kcnh2	UTSW	5	24322672	missense	probably damaging	1.00
R1130:Kcnh2	UTSW	5	24331825	nonsense	probably null
R1147:Kcnh2	UTSW	5	24324387	missense	probably damaging	1.00
R1147:Kcnh2	UTSW	5	24324387	missense	probably damaging	1.00
R1201:Kcnh2	UTSW	5	24322672	missense	probably damaging	1.00
R1346:Kcnh2	UTSW	5	24322660	missense	possibly damaging	0.86
R1608:Kcnh2	UTSW	5	24322219	missense	probably benign
R1613:Kcnh2	UTSW	5	24322762	splice site	probably benign
R1797:Kcnh2	UTSW	5	24322672	missense	probably damaging	1.00
R2006:Kcnh2	UTSW	5	24326570	missense	probably damaging	1.00
R2312:Kcnh2	UTSW	5	24324954	critical splice donor site	probably null
R2435:Kcnh2	UTSW	5	24326347	critical splice donor site	probably null
R4623:Kcnh2	UTSW	5	24348442	missense	probably benign	0.00
R4941:Kcnh2	UTSW	5	24331087	missense	probably damaging	0.98
R5394:Kcnh2	UTSW	5	24332041	missense	probably benign
R5467:Kcnh2	UTSW	5	24326767	nonsense	probably null
R6127:Kcnh2	UTSW	5	24325003	missense	probably damaging	1.00
R6135:Kcnh2	UTSW	5	24321793	missense	probably damaging	1.00
R6280:Kcnh2	UTSW	5	24331923	missense	probably benign	0.43
R6936:Kcnh2	UTSW	5	24324339	missense	probably damaging	1.00
R7061:Kcnh2	UTSW	5	24331922	missense	probably benign	0.01
R7136:Kcnh2	UTSW	5	24332991	missense	probably benign	0.13
R7399:Kcnh2	UTSW	5	24322059	missense	probably damaging	0.99
R7479:Kcnh2	UTSW	5	24325492	critical splice donor site	probably null
R7860:Kcnh2	UTSW	5	24324563	missense	probably damaging	1.00
R7950:Kcnh2	UTSW	5	24333036	missense	probably benign	0.31
R8018:Kcnh2	UTSW	5	24320016	missense	probably damaging	0.98
R8063:Kcnh2	UTSW	5	24321672	missense	probably benign	0.20
R8517:Kcnh2	UTSW	5	24326638	missense	probably damaging	1.00

Posted On

2013-04-17