Mutagenetix > Incidental Mutation

Incidental Mutation 'R5394:Kcnh2'

426023

Institutional Source

Beutler Lab

Gene Symbol

Kcnh2

Ensembl Gene

ENSMUSG00000038319

Gene Name

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

Synonyms

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

MMRRC Submission

042966-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.681) question?

Stock #

R5394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24524587-24556602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24537039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 182 (T182S)

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: T182S

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

SMART Domains

Protein: ENSMUSP00000047705
Gene: ENSMUSG00000038319
AA Change: T182S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144193

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (96/99)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	G	3: 146,356,363 (GRCm39)	F182L	probably damaging	Het
4930503B20Rik	T	C	3: 146,356,713 (GRCm39)	Y65C	probably damaging	Het
4930590J08Rik	A	G	6: 91,896,174 (GRCm39)	T341A	probably benign	Het
Adamts13	G	A	2: 26,876,570 (GRCm39)	V495I	probably benign	Het
Alms1	C	A	6: 85,600,070 (GRCm39)	T2101K	probably benign	Het
Als2	T	C	1: 59,214,105 (GRCm39)	D1361G	probably benign	Het
Ankdd1a	A	T	9: 65,412,496 (GRCm39)	M275K	probably benign	Het
Arfip2	A	T	7: 105,286,183 (GRCm39)	Y161*	probably null	Het
Asap3	A	T	4: 135,968,570 (GRCm39)	E707D	probably benign	Het
Atm	C	T	9: 53,419,077 (GRCm39)		probably null	Het
Atp9b	A	T	18: 80,820,052 (GRCm39)	S577R	probably benign	Het
Bltp1	G	T	3: 36,971,817 (GRCm39)	V517F	probably damaging	Het
Camk1d	G	C	2: 5,308,177 (GRCm39)	D274E	probably benign	Het
Cebpz	C	T	17: 79,229,634 (GRCm39)	D907N	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cnst	T	A	1: 179,429,301 (GRCm39)		probably benign	Het
Cog2	G	T	8: 125,259,268 (GRCm39)	V196L	probably benign	Het
Col11a1	A	G	3: 113,987,833 (GRCm39)		probably null	Het
Cops6	T	A	5: 138,161,762 (GRCm39)		probably null	Het
Cspg4	A	G	9: 56,797,484 (GRCm39)	E1316G	probably damaging	Het
Cwc22	G	C	2: 77,759,683 (GRCm39)	D122E	possibly damaging	Het
Dapk2	G	A	9: 66,176,000 (GRCm39)	V300M	probably benign	Het
Dcp1b	C	A	6: 119,152,328 (GRCm39)	D25E	probably damaging	Het
Ddx10	A	T	9: 53,145,157 (GRCm39)	Y273*	probably null	Het
Dhx58	T	C	11: 100,589,034 (GRCm39)	E504G	probably benign	Het
Dync2h1	C	T	9: 7,120,899 (GRCm39)	W2129*	probably null	Het
Egr4	A	T	6: 85,489,442 (GRCm39)	L206Q	probably damaging	Het
Eif4g3	A	G	4: 137,830,709 (GRCm39)		probably null	Het
Fbxo46	A	G	7: 18,870,541 (GRCm39)	N387D	possibly damaging	Het
Fpr-rs3	T	G	17: 20,844,470 (GRCm39)	M224L	probably benign	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gxylt2	A	G	6: 100,682,075 (GRCm39)	K91E	probably benign	Het
Hecw1	A	T	13: 14,497,174 (GRCm39)	V278E	probably damaging	Het
Hydin	A	G	8: 111,266,474 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,875,641 (GRCm39)	L776P	probably damaging	Het
Kplce	T	C	3: 92,776,005 (GRCm39)	E226G	probably damaging	Het
Lats2	T	G	14: 57,928,810 (GRCm39)	S1022R	probably benign	Het
Lef1	C	T	3: 130,988,308 (GRCm39)	P264S	probably damaging	Het
Lyrm1	A	C	7: 119,513,471 (GRCm39)	I79L	possibly damaging	Het
Macroh2a2	G	A	10: 61,587,466 (GRCm39)	T156M	possibly damaging	Het
Man2b2	T	G	5: 36,971,862 (GRCm39)	Q618P	probably benign	Het
Mei1	T	C	15: 81,976,957 (GRCm39)	V180A	possibly damaging	Het
Mmp15	A	T	8: 96,093,032 (GRCm39)	N137I	probably damaging	Het
Mms22l	A	G	4: 24,517,115 (GRCm39)	D222G	possibly damaging	Het
Mmut	T	A	17: 41,258,075 (GRCm39)	S414T	probably benign	Het
Myo18a	T	C	11: 77,744,176 (GRCm39)	M1846T	probably benign	Het
Neo1	A	T	9: 58,897,517 (GRCm39)	N146K	probably benign	Het
Nos3	A	G	5: 24,588,888 (GRCm39)	T1174A	probably benign	Het
Or10d4b	A	T	9: 39,534,430 (GRCm39)	T4S	probably benign	Het
Or10x1	T	C	1: 174,196,836 (GRCm39)	Y118H	probably damaging	Het
Or4c125	A	T	2: 89,169,806 (GRCm39)	I280N	probably damaging	Het
Or51f1	A	T	7: 102,505,686 (GRCm39)	S268T	probably damaging	Het
Pax8	A	T	2: 24,332,922 (GRCm39)		probably benign	Het
Pde5a	G	A	3: 122,611,658 (GRCm39)	C532Y	probably damaging	Het
Pigq	T	C	17: 26,150,446 (GRCm39)	D442G	possibly damaging	Het
Pik3c2g	T	C	6: 139,665,808 (GRCm39)	V43A	probably benign	Het
Pik3cb	T	C	9: 98,970,716 (GRCm39)	N325S	probably benign	Het
Pot1b	T	C	17: 56,007,063 (GRCm39)	K18R	probably benign	Het
Ppp1r42	A	T	1: 10,069,630 (GRCm39)	L144Q	probably damaging	Het
Prdm13	T	A	4: 21,679,455 (GRCm39)	Q345L	unknown	Het
Pyroxd2	T	A	19: 42,728,898 (GRCm39)	K167N	probably benign	Het
Rnf123	T	C	9: 107,947,930 (GRCm39)	Y131C	probably damaging	Het
Rnf25	T	C	1: 74,634,411 (GRCm39)	D204G	probably damaging	Het
Rpf2	G	A	10: 40,109,181 (GRCm39)	T60I	possibly damaging	Het
Scaf11	T	C	15: 96,317,339 (GRCm39)	N742D	probably benign	Het
Shank1	G	A	7: 44,002,075 (GRCm39)	D1257N	possibly damaging	Het
Shc2	A	G	10: 79,465,933 (GRCm39)	V168A	probably damaging	Het
Slc16a4	G	A	3: 107,199,758 (GRCm39)	V2M	probably benign	Het
Slc24a3	T	C	2: 145,455,494 (GRCm39)	V461A	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc4a4	T	A	5: 89,345,623 (GRCm39)		probably null	Het
Snx30	T	A	4: 59,879,329 (GRCm39)	D189E	probably benign	Het
Sspo	A	G	6: 48,472,194 (GRCm39)	Q4653R	possibly damaging	Het
Tpte	G	T	8: 22,817,806 (GRCm39)	R264I	probably damaging	Het
Tsc22d4	T	A	5: 137,757,036 (GRCm39)		probably benign	Het
Ubn1	T	C	16: 4,892,233 (GRCm39)	L585P	possibly damaging	Het
Usp24	A	T	4: 106,265,210 (GRCm39)	D1781V	probably damaging	Het
Utp20	A	T	10: 88,608,777 (GRCm39)	Y1514*	probably null	Het
Vmn1r55	A	T	7: 5,149,995 (GRCm39)	Y143N	probably damaging	Het
Vmn2r65	A	G	7: 84,595,862 (GRCm39)	V274A	probably benign	Het
Wdr17	A	G	8: 55,092,524 (GRCm39)	S1087P	possibly damaging	Het
Wnt5b	C	A	6: 119,417,283 (GRCm39)	R156L	probably damaging	Het
Zan	T	C	5: 137,433,896 (GRCm39)	D2279G	unknown	Het
Zan	T	C	5: 137,462,336 (GRCm39)	T948A	unknown	Het
Zfp758	T	C	17: 22,591,049 (GRCm39)	S4P	probably damaging	Het
Zfp839	A	G	12: 110,822,020 (GRCm39)	E278G	probably benign	Het
Zfp994	T	A	17: 22,419,506 (GRCm39)	H481L	probably damaging	Het
Zswim9	G	A	7: 12,994,909 (GRCm39)	R416C	probably damaging	Het

Other mutations in Kcnh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Kcnh2	APN	5	24,529,964 (GRCm39)	missense	probably damaging	1.00
IGL01536:Kcnh2	APN	5	24,531,522 (GRCm39)	missense	probably damaging	1.00
IGL02305:Kcnh2	APN	5	24,527,658 (GRCm39)	missense	possibly damaging	0.86
IGL02379:Kcnh2	APN	5	24,531,636 (GRCm39)	missense	probably damaging	1.00
IGL03100:Kcnh2	APN	5	24,527,682 (GRCm39)	missense	probably damaging	1.00
IGL03326:Kcnh2	APN	5	24,531,411 (GRCm39)	missense	probably damaging	1.00
R0077:Kcnh2	UTSW	5	24,527,700 (GRCm39)	missense	probably benign	0.11
R0349:Kcnh2	UTSW	5	24,556,235 (GRCm39)	missense	probably benign	0.18
R0959:Kcnh2	UTSW	5	24,527,670 (GRCm39)	missense	probably damaging	1.00
R0960:Kcnh2	UTSW	5	24,527,670 (GRCm39)	missense	probably damaging	1.00
R0963:Kcnh2	UTSW	5	24,527,670 (GRCm39)	missense	probably damaging	1.00
R1130:Kcnh2	UTSW	5	24,536,823 (GRCm39)	nonsense	probably null
R1147:Kcnh2	UTSW	5	24,529,385 (GRCm39)	missense	probably damaging	1.00
R1147:Kcnh2	UTSW	5	24,529,385 (GRCm39)	missense	probably damaging	1.00
R1201:Kcnh2	UTSW	5	24,527,670 (GRCm39)	missense	probably damaging	1.00
R1346:Kcnh2	UTSW	5	24,527,658 (GRCm39)	missense	possibly damaging	0.86
R1608:Kcnh2	UTSW	5	24,527,217 (GRCm39)	missense	probably benign
R1613:Kcnh2	UTSW	5	24,527,760 (GRCm39)	splice site	probably benign
R1797:Kcnh2	UTSW	5	24,527,670 (GRCm39)	missense	probably damaging	1.00
R2006:Kcnh2	UTSW	5	24,531,568 (GRCm39)	missense	probably damaging	1.00
R2312:Kcnh2	UTSW	5	24,529,952 (GRCm39)	critical splice donor site	probably null
R2435:Kcnh2	UTSW	5	24,531,345 (GRCm39)	critical splice donor site	probably null
R4623:Kcnh2	UTSW	5	24,553,440 (GRCm39)	missense	probably benign	0.00
R4941:Kcnh2	UTSW	5	24,536,085 (GRCm39)	missense	probably damaging	0.98
R5467:Kcnh2	UTSW	5	24,531,765 (GRCm39)	nonsense	probably null
R6127:Kcnh2	UTSW	5	24,530,001 (GRCm39)	missense	probably damaging	1.00
R6135:Kcnh2	UTSW	5	24,526,791 (GRCm39)	missense	probably damaging	1.00
R6280:Kcnh2	UTSW	5	24,536,921 (GRCm39)	missense	probably benign	0.43
R6936:Kcnh2	UTSW	5	24,529,337 (GRCm39)	missense	probably damaging	1.00
R7061:Kcnh2	UTSW	5	24,536,920 (GRCm39)	missense	probably benign	0.01
R7136:Kcnh2	UTSW	5	24,537,989 (GRCm39)	missense	probably benign	0.13
R7399:Kcnh2	UTSW	5	24,527,057 (GRCm39)	missense	probably damaging	0.99
R7479:Kcnh2	UTSW	5	24,530,490 (GRCm39)	critical splice donor site	probably null
R7860:Kcnh2	UTSW	5	24,529,561 (GRCm39)	missense	probably damaging	1.00
R7950:Kcnh2	UTSW	5	24,538,034 (GRCm39)	missense	probably benign	0.31
R8018:Kcnh2	UTSW	5	24,525,014 (GRCm39)	missense	probably damaging	0.98
R8063:Kcnh2	UTSW	5	24,526,670 (GRCm39)	missense	probably benign	0.20
R8517:Kcnh2	UTSW	5	24,531,636 (GRCm39)	missense	probably damaging	1.00
R8681:Kcnh2	UTSW	5	24,536,981 (GRCm39)	missense	probably benign	0.03
R8992:Kcnh2	UTSW	5	24,536,868 (GRCm39)	missense	probably benign	0.00
R9260:Kcnh2	UTSW	5	24,528,069 (GRCm39)	missense	probably damaging	1.00
R9348:Kcnh2	UTSW	5	24,538,003 (GRCm39)	missense	probably damaging	1.00
R9349:Kcnh2	UTSW	5	24,538,003 (GRCm39)	missense	probably damaging	1.00
R9416:Kcnh2	UTSW	5	24,537,964 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTAAGGCTCTGAGCTCGTGG -3'
(R):5'- AATCAAGTACTGTGCACCGGG -3'

Sequencing Primer
(F):5'- CTGGCTACTGGTGAAGCAGAC -3'
(R):5'- GTGGGGTGAGGGCCTTCC -3'

Posted On

2016-08-04