Mutagenetix > Incidental Mutation

Incidental Mutation 'R7860:Kcnh2'

607416

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

045913-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.681) question?

Stock #

R7860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24524587-24556602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24529561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 725 (C725Y)

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: C725Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047705
Gene: ENSMUSG00000038319
AA Change: C725Y

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: C383Y

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110750
Gene: ENSMUSG00000038319
AA Change: C383Y

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (78/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,905,707 (GRCm39)	T493A	probably damaging	Het
Aars1	A	G	8: 111,776,493 (GRCm39)	K650E	probably benign	Het
Abcb1b	C	T	5: 8,882,258 (GRCm39)	S793F	probably benign	Het
Adamts18	T	A	8: 114,501,908 (GRCm39)	I318F	probably damaging	Het
Adcy8	A	G	15: 64,571,322 (GRCm39)	I1137T	probably damaging	Het
Ambra1	T	A	2: 91,603,838 (GRCm39)	F607L	probably benign	Het
Ankrd46	A	T	15: 36,479,566 (GRCm39)	V175D	possibly damaging	Het
Arhgap28	C	A	17: 68,208,277 (GRCm39)	E114*	probably null	Het
Arrdc1	C	T	2: 24,816,158 (GRCm39)	G282S	probably damaging	Het
Atp1a3	A	T	7: 24,681,216 (GRCm39)	L790Q	probably damaging	Het
Bend5	T	A	4: 111,272,406 (GRCm39)	V12D	probably damaging	Het
Bod1l	C	T	5: 41,976,608 (GRCm39)	E1569K	probably damaging	Het
Cdc123	T	A	2: 5,808,775 (GRCm39)	I234L	probably benign	Het
Cep126	T	G	9: 8,120,749 (GRCm39)	E91D	probably damaging	Het
Cep89	T	A	7: 35,113,570 (GRCm39)	D199E	possibly damaging	Het
Ces1d	T	C	8: 93,897,765 (GRCm39)	T442A	probably benign	Het
Chsy3	C	T	18: 59,542,299 (GRCm39)	A479V	probably benign	Het
Clcn4	C	A	7: 7,296,060 (GRCm39)	G261C	probably damaging	Het
Clhc1	A	T	11: 29,507,651 (GRCm39)		probably null	Het
Cnot3	T	A	7: 3,658,565 (GRCm39)		probably null	Het
Col9a1	C	A	1: 24,276,261 (GRCm39)	P723H	probably damaging	Het
Crybg3	A	T	16: 59,375,605 (GRCm39)	M169K	probably benign	Het
Cxxc4	A	G	3: 133,963,814 (GRCm39)	R353G	probably benign	Het
Dennd3	A	T	15: 73,412,657 (GRCm39)	I440F	probably damaging	Het
Dnai3	A	G	3: 145,772,675 (GRCm39)	L457P	probably damaging	Het
Elmo3	G	T	8: 106,035,649 (GRCm39)	S553I	probably damaging	Het
Elovl2	A	G	13: 41,340,943 (GRCm39)	Y198H	probably benign	Het
Epm2aip1	A	G	9: 111,101,105 (GRCm39)	Y26C	probably damaging	Het
Ext1	A	C	15: 52,953,335 (GRCm39)	C510G	possibly damaging	Het
Extl3	A	T	14: 65,314,938 (GRCm39)	D81E	probably benign	Het
Fbxl5	T	A	5: 43,916,018 (GRCm39)	T465S	probably benign	Het
Fbxo31	G	A	8: 122,291,384 (GRCm39)		probably null	Het
Gabrr2	A	T	4: 33,081,470 (GRCm39)	K169*	probably null	Het
Haus4	A	G	14: 54,779,602 (GRCm39)	Y341H	probably damaging	Het
Itgae	A	T	11: 73,011,099 (GRCm39)		probably null	Het
Jmjd7	C	T	2: 119,860,996 (GRCm39)	H149Y	possibly damaging	Het
Mroh1	C	T	15: 76,331,532 (GRCm39)	P1252L	probably benign	Het
Ms4a14	A	G	19: 11,280,308 (GRCm39)	F750S	probably benign	Het
Naf1	T	A	8: 67,313,165 (GRCm39)	D49E	unknown	Het
Notch3	T	C	17: 32,341,747 (GRCm39)	T2002A	possibly damaging	Het
Or10q12	T	A	19: 13,745,716 (GRCm39)	D3E	probably benign	Het
Or14c44	A	G	7: 86,057,119 (GRCm39)		probably benign	Het
Or1e33	A	T	11: 73,738,333 (GRCm39)	I206N	probably benign	Het
Or2d3c	A	T	7: 106,525,777 (GRCm39)	D296E	probably benign	Het
Or2l13b	A	T	16: 19,349,167 (GRCm39)	C168S	probably damaging	Het
Or7e175	A	T	9: 20,048,871 (GRCm39)	N153I	probably benign	Het
Or9s23	G	A	1: 92,501,810 (GRCm39)	D306N	probably benign	Het
Pck1	A	G	2: 172,997,743 (GRCm39)	T271A	possibly damaging	Het
Penk	A	G	4: 4,133,976 (GRCm39)	W224R	possibly damaging	Het
Per2	C	A	1: 91,372,481 (GRCm39)	V198F	probably damaging	Het
Phf11d	A	G	14: 59,599,280 (GRCm39)	M23T	probably damaging	Het
Pla2g4d	A	G	2: 120,097,211 (GRCm39)	V796A	probably benign	Het
Pramel51	A	T	12: 88,143,122 (GRCm39)	N360K	possibly damaging	Het
Prdx6	A	T	1: 161,069,428 (GRCm39)		probably null	Het
Prep	A	T	10: 44,967,108 (GRCm39)	N47I	probably damaging	Het
Prodh2	A	T	7: 30,212,064 (GRCm39)		probably null	Het
Prss38	G	T	11: 59,265,996 (GRCm39)	H96N	probably damaging	Het
Rab11a	C	A	9: 64,635,613 (GRCm39)	E47*	probably null	Het
Rad18	C	T	6: 112,626,798 (GRCm39)	G369D	probably benign	Het
Rragc	T	C	4: 123,823,717 (GRCm39)	V330A	probably damaging	Het
Serpina9	A	T	12: 103,967,680 (GRCm39)	H238Q	probably benign	Het
Serpinb3b	T	A	1: 107,085,467 (GRCm39)	K91N	probably damaging	Het
Slc16a12	T	G	19: 34,652,730 (GRCm39)	S139R	probably benign	Het
Slc22a27	T	A	19: 7,887,472 (GRCm39)		probably null	Het
Slc25a11	A	G	11: 70,536,005 (GRCm39)	V243A	probably benign	Het
Slc38a9	A	T	13: 112,868,148 (GRCm39)	I545F	probably benign	Het
Slc39a8	A	T	3: 135,590,157 (GRCm39)	H349L	probably damaging	Het
Slk	C	T	19: 47,630,510 (GRCm39)	T1227I	possibly damaging	Het
Spdye4b	A	G	5: 143,180,609 (GRCm39)	E25G	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
St3gal1	A	G	15: 66,983,114 (GRCm39)	V214A	probably benign	Het
St7l	T	A	3: 104,833,893 (GRCm39)	M550K	probably benign	Het
Tbk1	A	C	10: 121,388,151 (GRCm39)	F638C	possibly damaging	Het
Tex101	A	T	7: 24,369,190 (GRCm39)	C114S	probably damaging	Het
Ttll13	A	G	7: 79,905,135 (GRCm39)	M384V	probably benign	Het
Ugt2b37	A	T	5: 87,402,189 (GRCm39)	D147E	probably damaging	Het
Vmn1r10	A	T	6: 57,090,686 (GRCm39)	T93S	probably benign	Het
Wasl	G	A	6: 24,619,396 (GRCm39)	P375S	unknown	Het
Zfp236	C	A	18: 82,692,481 (GRCm39)	E165*	probably null	Het
Zfp839	A	T	12: 110,822,060 (GRCm39)	R291S	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
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
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'- AGCCCCTGGAGATGAAGTAG -3'
(R):5'- ACATGGGAAATCAATTGCTGCAC -3'

Sequencing Primer
(F):5'- CCCTGGAGATGAAGTAGAGGGC -3'
(R):5'- CACTTCCGGATGAGAACTTGGTC -3'

Posted On

2019-12-20