Mutagenetix > Incidental Mutation

Incidental Mutation 'R7061:Kcnh2'

548253

Institutional Source

Beutler Lab

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.610) question?

Stock #

R7061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24319589-24351604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24331922 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 221 (H221Q)

Ref Sequence

ENSEMBL: ENSMUSP00000047705 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036092
AA Change: H221Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000047705
Gene: ENSMUSG00000038319
AA Change: H221Q

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 benign
Transcript: ENSMUST00000115098

SMART Domains

Protein: ENSMUSP00000110750
Gene: ENSMUSG00000038319

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (68/69)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,545,065	M660T	probably benign	Het
Aard	G	A	15: 52,040,221	M13I	probably benign	Het
Abcb5	A	C	12: 118,877,774	Y979D	probably damaging	Het
Adgrb1	G	C	15: 74,569,881	V4L	probably benign	Het
Ap3b2	C	T	7: 81,461,009	R1006Q	unknown	Het
Bpifa6	A	T	2: 153,992,316	T343S	probably benign	Het
Celsr3	T	A	9: 108,847,594	C2957*	probably null	Het
Chd6	G	A	2: 161,025,965	Q428*	probably null	Het
Col5a1	C	A	2: 28,025,678	C191*	probably null	Het
Cpox	A	G	16: 58,670,860	I145V	possibly damaging	Het
Csnk2a1	C	T	2: 152,274,171	R268C	probably benign	Het
Dclk2	A	G	3: 86,831,731		probably null	Het
Dennd5a	T	C	7: 109,905,179	E909G	probably benign	Het
Depdc1a	T	A	3: 159,522,852	S414T	possibly damaging	Het
Dock5	A	G	14: 67,770,254	F1502S	probably damaging	Het
Dopey2	G	T	16: 93,762,063	A448S	probably benign	Het
Dsg1c	C	A	18: 20,277,009	N511K	probably benign	Het
Epc2	G	T	2: 49,535,322	R108L	probably damaging	Het
Erp44	T	A	4: 48,219,375	I147F	probably benign	Het
Evc	T	C	5: 37,319,102	T368A	possibly damaging	Het
Fbxo41	G	T	6: 85,475,466	R738S	probably benign	Het
Fli1	T	C	9: 32,424,222	T305A	probably damaging	Het
Gm4969	A	T	7: 19,100,128		probably benign	Het
Gm8897	T	C	5: 11,419,104	V74A	possibly damaging	Het
Grk5	A	G	19: 61,046,092	T93A	probably benign	Het
Grm2	A	T	9: 106,651,225	N153K	probably damaging	Het
Helz	A	G	11: 107,649,177	T1007A	possibly damaging	Het
Helz2	A	G	2: 181,240,514	L162P	probably damaging	Het
Hmgcr	T	A	13: 96,666,148	Q81L	possibly damaging	Het
Hnrnpu	T	C	1: 178,336,126	K218E	unknown	Het
Hydin	A	T	8: 110,603,288	I4885F	possibly damaging	Het
Ibsp	A	G	5: 104,309,902		probably null	Het
Igfals	T	C	17: 24,880,307	L124P	probably damaging	Het
Il24	T	A	1: 130,883,371	H142L	possibly damaging	Het
Man1a	A	G	10: 53,920,235	S454P	probably damaging	Het
Mfsd4b1	C	T	10: 40,003,386	V172M	possibly damaging	Het
Mical2	T	A	7: 112,346,801	I763K	probably benign	Het
Mybpc3	A	G	2: 91,125,404	I594M	possibly damaging	Het
Neo1	T	A	9: 58,990,441	R77S	possibly damaging	Het
Nlrp6	A	G	7: 140,922,867	I265M	probably benign	Het
Olfr1350	A	G	7: 6,570,783	Y264C	probably damaging	Het
Olfr669	T	C	7: 104,938,676	L50P	probably damaging	Het
Olfr877	T	A	9: 37,855,646	V276D	possibly damaging	Het
Pcdhgb5	C	A	18: 37,731,923	P257Q	probably benign	Het
Phactr1	A	G	13: 43,132,981	D586G	probably damaging	Het
Pkn3	T	A	2: 30,083,536		probably null	Het
Prob1	A	T	18: 35,654,500	S234T	probably benign	Het
Rab14	A	T	2: 35,183,417	L131*	probably null	Het
Rab5c	G	A	11: 100,719,963	R40C	probably damaging	Het
Rhebl1	A	G	15: 98,879,283	L103P	probably damaging	Het
Rnf10	G	T	5: 115,257,090	F146L	probably damaging	Het
Rrbp1	T	C	2: 143,989,167	K360R	possibly damaging	Het
Slc6a9	C	T	4: 117,868,064	T575I	probably benign	Het
Smo	A	G	6: 29,760,230	H776R	probably damaging	Het
Tns2	A	G	15: 102,104,479	M1V	probably null	Het
Ttn	C	A	2: 76,894,692		probably benign	Het
Ugt3a1	A	T	15: 9,306,154	M130L	probably benign	Het
Urb2	C	T	8: 124,028,297	H248Y	probably benign	Het
Vit	A	T	17: 78,625,156	N564I	probably damaging	Het
Vmn1r60	A	T	7: 5,544,311	Y263*	probably null	Het
Vmn2r16	A	T	5: 109,363,754	Y609F	probably damaging	Het
Xpo7	T	C	14: 70,671,072	I876V	probably benign	Het
Zfp442	A	G	2: 150,408,017	I655T	probably benign	Het
Zfp574	T	A	7: 25,080,197	C215S	possibly damaging	Het
Zfp608	T	C	18: 54,987,997	T173A	probably benign	Het
Zfp69	A	T	4: 120,931,401	V239D	possibly damaging	Het

Other mutations in Kcnh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Kcnh2	APN	5	24324966	missense	probably damaging	1.00
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
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
R8681:Kcnh2	UTSW	5	24331983	missense	probably benign	0.03
R8992:Kcnh2	UTSW	5	24331870	missense	probably benign	0.00
R9260:Kcnh2	UTSW	5	24323071	missense	probably damaging	1.00
R9348:Kcnh2	UTSW	5	24333005	missense	probably damaging	1.00
R9349:Kcnh2	UTSW	5	24333005	missense	probably damaging	1.00
R9416:Kcnh2	UTSW	5	24332966	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTACCTGTGCTTGCATGGC -3'
(R):5'- AAGACTTTCCGCCTGAAGC -3'

Sequencing Primer
(F):5'- GCCTCAATGTCATCCGCG -3'
(R):5'- TGAAGCTGCCTGCCTTG -3'

Posted On

2019-05-13