Mutagenetix > Incidental Mutation

Incidental Mutation 'R0349:Kcnh2'

36062

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

038556-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.708) question?

Stock #

R0349 (G1)

Quality Score

132

Status

Not validated

Chromosome

Chromosomal Location

24524587-24556602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24556235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 16 (D16G)

Ref Sequence

ENSEMBL: ENSMUSP00000047705 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036092
AA Change: D16G

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000047705
Gene: ENSMUSG00000038319
AA Change: D16G

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.3%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	T	19: 31,910,062 (GRCm39)	S285C	possibly damaging	Het
Abcc9	A	T	6: 142,610,351 (GRCm39)	N604K	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adgrl3	A	G	5: 81,919,491 (GRCm39)	T1192A	probably damaging	Het
Aldh1l2	A	T	10: 83,326,478 (GRCm39)	Y800N	probably damaging	Het
Ano3	A	T	2: 110,491,832 (GRCm39)	V865D	probably damaging	Het
App	A	T	16: 84,810,568 (GRCm39)	L545Q	probably damaging	Het
Atp10a	A	G	7: 58,453,215 (GRCm39)	D798G	probably damaging	Het
B3galnt2	T	C	13: 14,166,059 (GRCm39)	V318A	probably benign	Het
Clcn3	T	A	8: 61,394,382 (GRCm39)	D49V	possibly damaging	Het
Clcn6	T	A	4: 148,108,651 (GRCm39)	K126M	possibly damaging	Het
Cntln	T	A	4: 84,914,722 (GRCm39)	S510T	probably damaging	Het
Csk	A	C	9: 57,535,477 (GRCm39)	C290W	probably damaging	Het
Dmxl1	T	A	18: 50,012,349 (GRCm39)	M1502K	probably damaging	Het
Dpy19l2	T	A	9: 24,607,218 (GRCm39)	N81I	possibly damaging	Het
Dpyd	T	A	3: 118,710,748 (GRCm39)	C385*	probably null	Het
Dst	G	A	1: 34,238,634 (GRCm39)	V1765I	probably benign	Het
Eif5b	A	G	1: 38,071,447 (GRCm39)	S459G	probably benign	Het
Fam83d	A	G	2: 158,621,768 (GRCm39)	I160V	possibly damaging	Het
Fat3	A	G	9: 15,942,476 (GRCm39)	F1299L	probably damaging	Het
Fmn1	A	G	2: 113,196,141 (GRCm39)	I614V	unknown	Het
Fsd1l	T	A	4: 53,679,854 (GRCm39)	V184E	probably damaging	Het
Fyco1	A	G	9: 123,626,727 (GRCm39)	V1328A	probably damaging	Het
Ganab	T	A	19: 8,889,016 (GRCm39)	N572K	probably null	Het
Gbp10	T	A	5: 105,368,942 (GRCm39)	D299V	possibly damaging	Het
Gpr83	T	G	9: 14,779,563 (GRCm39)	L205R	probably damaging	Het
Hapln2	G	A	3: 87,930,936 (GRCm39)	P152S	probably damaging	Het
Htatip2	T	C	7: 49,423,140 (GRCm39)	Y232H	probably benign	Het
Itga2b	C	T	11: 102,358,252 (GRCm39)	V158I	probably damaging	Het
Kansl3	T	C	1: 36,390,864 (GRCm39)	D390G	probably damaging	Het
Kctd8	A	T	5: 69,498,353 (GRCm39)	F98I	probably damaging	Het
Kif21b	A	T	1: 136,077,049 (GRCm39)	E357V	probably damaging	Het
Kmt5c	C	T	7: 4,749,594 (GRCm39)	R371C	probably damaging	Het
Kndc1	T	C	7: 139,490,220 (GRCm39)	F241L	probably benign	Het
Lrba	A	G	3: 86,447,312 (GRCm39)	D2052G	probably damaging	Het
Lsr	T	A	7: 30,658,698 (GRCm39)	I54F	probably damaging	Het
Matk	G	T	10: 81,094,328 (GRCm39)	L28F	probably benign	Het
Mdn1	T	C	4: 32,750,318 (GRCm39)	L4429P	probably damaging	Het
Med29	CCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGC	7: 28,091,935 (GRCm39)		probably benign	Het
Msln	G	T	17: 25,969,250 (GRCm39)	Q407K	possibly damaging	Het
Msr1	C	T	8: 40,034,868 (GRCm39)	G428R	probably damaging	Het
Myof	A	G	19: 37,899,417 (GRCm39)	I1040T	probably damaging	Het
Nckap5	A	G	1: 125,954,171 (GRCm39)	S794P	probably benign	Het
Nfkbiz	C	T	16: 55,639,354 (GRCm39)		probably null	Het
Nr2c1	C	T	10: 94,031,044 (GRCm39)	S535L	probably damaging	Het
Opn3	A	C	1: 175,519,870 (GRCm39)	L78R	probably damaging	Het
Or11h4b	G	A	14: 50,918,711 (GRCm39)	R127C	probably benign	Het
Or52n3	A	T	7: 104,530,199 (GRCm39)	D95V	possibly damaging	Het
Or5b12	A	T	19: 12,897,299 (GRCm39)	C125S	probably damaging	Het
Otulinl	T	A	15: 27,664,876 (GRCm39)	I27L	probably benign	Het
Pcdhb9	A	G	18: 37,535,632 (GRCm39)	N542S	probably damaging	Het
Pdc	T	A	1: 150,209,178 (GRCm39)	N220K	probably benign	Het
Pde6c	A	T	19: 38,150,797 (GRCm39)	N569Y	probably damaging	Het
Pgm1	A	T	4: 99,820,814 (GRCm39)	K219M	probably damaging	Het
Pitpnb	C	T	5: 111,494,992 (GRCm39)	T99M	possibly damaging	Het
Pou6f2	T	A	13: 18,326,589 (GRCm39)	Q71L	probably damaging	Het
Pramel24	T	G	4: 143,453,629 (GRCm39)	W246G	probably benign	Het
Prkd1	C	A	12: 50,413,139 (GRCm39)	L677F	probably damaging	Het
Ranbp17	T	C	11: 33,450,689 (GRCm39)	I78V	probably benign	Het
Rnft2	T	A	5: 118,339,450 (GRCm39)	K362M	possibly damaging	Het
Rprd1a	T	A	18: 24,639,904 (GRCm39)	E259V	possibly damaging	Het
Scara3	A	T	14: 66,169,230 (GRCm39)	I129N	probably damaging	Het
Scgb1a1	A	T	19: 9,062,753 (GRCm39)		probably null	Het
Sec16b	A	T	1: 157,359,746 (GRCm39)		probably null	Het
Slc18a1	A	T	8: 69,524,753 (GRCm39)	M167K	probably damaging	Het
Slc6a15	C	T	10: 103,254,086 (GRCm39)	A674V	probably benign	Het
Slc6a3	T	C	13: 73,715,676 (GRCm39)	F437S	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Stag1	T	A	9: 100,658,837 (GRCm39)	N141K	probably damaging	Het
Sun2	T	C	15: 79,614,433 (GRCm39)	E321G	probably damaging	Het
Taar2	C	A	10: 23,817,327 (GRCm39)	T289K	possibly damaging	Het
Taar2	T	C	10: 23,817,407 (GRCm39)	Y316H	probably benign	Het
Tbcd	T	A	11: 121,493,809 (GRCm39)		probably null	Het
Tecr	G	A	8: 84,298,904 (GRCm39)	T106I	probably damaging	Het
Thoc2l	T	C	5: 104,667,842 (GRCm39)	L788P	possibly damaging	Het
Tmem60	T	G	5: 21,091,628 (GRCm39)	V131G	probably benign	Het
Uimc1	A	G	13: 55,223,804 (GRCm39)	V156A	probably benign	Het
Usp28	G	A	9: 48,921,581 (GRCm39)	W266*	probably null	Het
Vmn2r17	T	A	5: 109,576,202 (GRCm39)	S358T	probably damaging	Het
Wwc2	T	A	8: 48,321,701 (GRCm39)	Y471F	unknown	Het
Ythdc1	C	T	5: 86,983,579 (GRCm39)	R675C	probably damaging	Het
Zfp30	T	C	7: 29,493,029 (GRCm39)	S428P	probably damaging	Het
Zfp462	T	A	4: 55,008,768 (GRCm39)	C245S	probably benign	Het
Zscan30	T	C	18: 24,104,455 (GRCm39)		noncoding transcript	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
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
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'- ACACTAGGCCCCTTGGTCCTATG -3'
(R):5'- GCCACTAAGCAGAGCGGGAATC -3'

Sequencing Primer
(F):5'- CCTTGGTCCTATGCCAGTGG -3'
(R):5'- CGCCCTCGGTCCAGTTC -3'

Posted On

2013-05-09