Mutagenetix > Incidental Mutation

Incidental Mutation 'R2006:Kcnh2'

225526

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

040015-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.708) question?

Stock #

R2006 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24524587-24556602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24531568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 448 (G448C)

Ref Sequence

ENSEMBL: ENSMUSP00000047705 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000036092
AA Change: G448C

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

SMART Domains

Protein: ENSMUSP00000047705
Gene: ENSMUSG00000038319
AA Change: G448C

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
AA Change: G106C

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110750
Gene: ENSMUSG00000038319
AA Change: G106C

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

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,204,275 (GRCm39)	F333L	probably benign	Het
Abcc2	T	A	19: 43,793,500 (GRCm39)	F384Y	probably damaging	Het
Acr	C	T	15: 89,458,404 (GRCm39)	P362S	probably benign	Het
Acss3	T	C	10: 106,798,871 (GRCm39)	D484G	possibly damaging	Het
Actrt1	A	G	X: 45,418,593 (GRCm39)	T203A	probably benign	Het
Agtpbp1	A	T	13: 59,648,135 (GRCm39)	C562S	probably benign	Het
Ahnak	A	G	19: 8,984,439 (GRCm39)	K1908E	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Apaf1	A	T	10: 90,897,634 (GRCm39)	I283N	probably damaging	Het
Bbx	G	A	16: 50,044,758 (GRCm39)	T493M	possibly damaging	Het
Best2	C	T	8: 85,739,818 (GRCm39)		probably null	Het
C4bp	C	A	1: 130,575,769 (GRCm39)	E75*	probably null	Het
Calr3	A	T	8: 73,188,695 (GRCm39)	V144D	probably damaging	Het
Capn1	C	T	19: 6,041,613 (GRCm39)	G632D	probably damaging	Het
Catsper2	C	A	2: 121,236,838 (GRCm39)	E270*	probably null	Het
Ccdc110	A	T	8: 46,396,349 (GRCm39)	I747F	probably damaging	Het
Ccdc15	T	A	9: 37,226,768 (GRCm39)	D389V	possibly damaging	Het
Cd226	A	G	18: 89,265,435 (GRCm39)	I125V	probably benign	Het
Crb2	A	T	2: 37,673,446 (GRCm39)	D114V	probably damaging	Het
Crebbp	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	16: 3,902,617 (GRCm39)		probably benign	Het
Crebrf	T	C	17: 26,961,857 (GRCm39)	V318A	possibly damaging	Het
Dab1	T	C	4: 104,462,522 (GRCm39)	I32T	probably damaging	Het
Daw1	T	C	1: 83,169,066 (GRCm39)	V181A	probably damaging	Het
Dlg2	G	A	7: 91,614,825 (GRCm39)	E255K	possibly damaging	Het
Dnah10	T	A	5: 124,906,651 (GRCm39)	D4170E	possibly damaging	Het
Dnah12	A	G	14: 26,536,416 (GRCm39)	T2111A	possibly damaging	Het
Dock10	T	C	1: 80,527,506 (GRCm39)	Y1081C	possibly damaging	Het
Dscam	T	C	16: 96,621,112 (GRCm39)	Y532C	probably damaging	Het
Fam83c	T	C	2: 155,672,223 (GRCm39)	D404G	probably benign	Het
Fam83g	A	G	11: 61,593,801 (GRCm39)	N445S	possibly damaging	Het
Ghr	C	T	15: 3,357,464 (GRCm39)	C268Y	probably damaging	Het
Gm8444	T	C	15: 81,727,775 (GRCm39)		probably benign	Het
Gp6	T	A	7: 4,387,988 (GRCm39)	K160N	probably benign	Het
Grm3	T	C	5: 9,639,793 (GRCm39)	Y84C	possibly damaging	Het
Gtf3c2	C	A	5: 31,325,440 (GRCm39)	G450C	probably damaging	Het
Icosl	A	T	10: 77,907,787 (GRCm39)	M116L	possibly damaging	Het
Il31ra	T	G	13: 112,666,890 (GRCm39)	Y396S	probably damaging	Het
Insig1	A	G	5: 28,276,464 (GRCm39)	N10S	probably benign	Het
L1td1	C	T	4: 98,621,726 (GRCm39)	S96L	possibly damaging	Het
Mapre3	A	T	5: 31,019,168 (GRCm39)	N4I	probably damaging	Het
Mblac2	T	A	13: 81,859,860 (GRCm39)	D70E	probably benign	Het
Mki67	T	A	7: 135,300,238 (GRCm39)	K1599*	probably null	Het
Mpg	A	G	11: 32,181,840 (GRCm39)	I283V	probably benign	Het
Mrtfb	G	T	16: 13,199,440 (GRCm39)	E98*	probably null	Het
Mybpc1	C	A	10: 88,381,921 (GRCm39)	A576S	probably damaging	Het
Myo1h	T	G	5: 114,499,140 (GRCm39)	V129G	probably damaging	Het
Nars1	A	T	18: 64,638,099 (GRCm39)	V285E	probably damaging	Het
Nbas	T	A	12: 13,464,742 (GRCm39)		probably null	Het
Neb	T	C	2: 52,089,456 (GRCm39)	D5172G	probably null	Het
Npbwr1	T	A	1: 5,986,570 (GRCm39)	S315C	probably damaging	Het
Nyap1	T	C	5: 137,733,953 (GRCm39)	H360R	possibly damaging	Het
Nyx	A	G	X: 13,352,974 (GRCm39)	E276G	probably damaging	Het
Or10ag59	T	A	2: 87,405,536 (GRCm39)	M36K	probably benign	Het
Or1e1	G	T	11: 73,245,518 (GRCm39)	C313F	probably benign	Het
Or2l13b	A	G	16: 19,349,455 (GRCm39)	Y72H	probably benign	Het
Or2w6	T	C	13: 21,842,642 (GRCm39)	T284A	possibly damaging	Het
Or4c1	A	G	2: 89,133,160 (GRCm39)	Y259H	possibly damaging	Het
Or4c118	A	T	2: 88,975,241 (GRCm39)	V42E	probably benign	Het
Or5v1b	C	T	17: 37,841,597 (GRCm39)	S243F	probably damaging	Het
Or7e174	A	T	9: 20,012,165 (GRCm39)	M37L	probably benign	Het
Or7g16	G	A	9: 18,726,801 (GRCm39)	S263L	probably benign	Het
Or8g23	T	A	9: 38,971,729 (GRCm39)	T78S	probably damaging	Het
Paf1	C	A	7: 28,095,193 (GRCm39)		probably null	Het
Pcsk5	T	C	19: 17,455,280 (GRCm39)	D1050G	probably benign	Het
Pgap1	A	G	1: 54,590,220 (GRCm39)	S73P	possibly damaging	Het
Phtf1	G	A	3: 103,911,799 (GRCm39)		probably null	Het
Pik3c2b	G	T	1: 132,994,282 (GRCm39)	R82L	probably damaging	Het
Pik3ca	T	C	3: 32,504,206 (GRCm39)	L632P	probably damaging	Het
Plau	G	T	14: 20,888,760 (GRCm39)		probably null	Het
Pld4	A	T	12: 112,734,923 (GRCm39)	Q460L	possibly damaging	Het
Prdm2	T	A	4: 142,858,447 (GRCm39)	Q1614H	possibly damaging	Het
Ptprq	C	T	10: 107,502,407 (GRCm39)	G837D	probably damaging	Het
Rad9b	A	G	5: 122,477,842 (GRCm39)	V178A	possibly damaging	Het
Rfc1	G	T	5: 65,468,397 (GRCm39)	Y105*	probably null	Het
Sardh	G	A	2: 27,118,351 (GRCm39)	R460C	probably damaging	Het
Scn5a	C	A	9: 119,365,546 (GRCm39)	R367L	probably damaging	Het
Sdcbp	A	T	4: 6,386,536 (GRCm39)	I137L	probably benign	Het
Shmt2	A	G	10: 127,355,029 (GRCm39)	V273A	probably benign	Het
Slc5a9	G	T	4: 111,737,423 (GRCm39)	P612H	probably benign	Het
Slitrk4	TTGT	TT	X: 63,314,294 (GRCm39)		probably null	Het
Slitrk4	TG	T	X: 63,314,295 (GRCm39)		probably null	Het
Spata1	A	T	3: 146,199,438 (GRCm39)	S9T	probably benign	Het
Syn3	T	C	10: 85,909,097 (GRCm39)	T328A	probably benign	Het
Tdrd6	A	G	17: 43,939,546 (GRCm39)	F501L	probably damaging	Het
Tekt5	T	C	16: 10,213,070 (GRCm39)	I72V	probably benign	Het
Ticrr	T	C	7: 79,343,821 (GRCm39)	S1229P	possibly damaging	Het
Tlr6	T	C	5: 65,110,748 (GRCm39)	S720G	probably damaging	Het
Tmem156	T	A	5: 65,237,294 (GRCm39)	D87V	probably damaging	Het
Togaram1	T	A	12: 65,065,914 (GRCm39)	D1639E	probably damaging	Het
Ucn2	A	G	9: 108,815,430 (GRCm39)	K64R	probably benign	Het
Vmn2r57	T	A	7: 41,098,001 (GRCm39)	Y22F	probably benign	Het
Vwa1	T	C	4: 155,855,307 (GRCm39)	T269A	probably benign	Het
Washc5	A	G	15: 59,213,004 (GRCm39)	L892P	possibly damaging	Het
Wdr20	T	C	12: 110,760,002 (GRCm39)	V296A	probably damaging	Het
Xxylt1	A	T	16: 30,869,586 (GRCm39)	H171Q	probably damaging	Het
Yju2	C	T	17: 56,271,543 (GRCm39)	Q155*	probably null	Het
Zfp275	A	G	X: 72,396,841 (GRCm39)	T118A	possibly 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
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
R5394:Kcnh2	UTSW	5	24,537,039 (GRCm39)	missense	probably benign
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'- TGTCAATGAGAAACCAGCCC -3'
(R):5'- AACTTTTGCTCCGAAGTCCC -3'

Sequencing Primer
(F):5'- AGCCCTTGAAGTAGTGCAC -3'
(R):5'- CTGCCTGAGTATAAGCTGCAG -3'

Posted On

2014-08-25