Mutagenetix > Incidental Mutation

Incidental Mutation 'R2655:Kcnh5'

252686

Institutional Source

Beutler Lab

Gene Symbol

Kcnh5

Ensembl Gene

ENSMUSG00000034402

Gene Name

potassium voltage-gated channel, subfamily H (eag-related), member 5

Synonyms

MMRRC Submission

040430-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2655 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74943994-75224106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75161314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 198 (E198G)

Ref Sequence

ENSEMBL: ENSMUSP00000046864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042299]

AlphaFold

Q920E3

Predicted Effect

probably damaging
Transcript: ENSMUST00000042299
AA Change: E198G

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

SMART Domains

Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: E198G

Domain	Start	End	E-Value	Type
PAS	14	86	8.97e0	SMART
PAC	92	134	6.64e-7	SMART
Pfam:Ion_trans	214	479	1.2e-37	PFAM
Pfam:Ion_trans_2	390	473	5e-14	PFAM
cNMP	550	668	2.48e-15	SMART
low complexity region	710	717	N/A	INTRINSIC
coiled coil region	907	944	N/A	INTRINSIC
low complexity region	953	968	N/A	INTRINSIC

Meta Mutation Damage Score

0.3718

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (39/39)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a targeted gene disruption display thigmotaxis and abnormal startle reflex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	T	A	12: 84,122,650 (GRCm39)	S411R	probably benign	Het
Adamts12	A	T	15: 11,065,174 (GRCm39)	N20Y	possibly damaging	Het
Bbs9	G	A	9: 22,415,348 (GRCm39)	E91K	probably damaging	Het
Casp4	C	A	9: 5,322,894 (GRCm39)	L57I	possibly damaging	Het
Cat	T	C	2: 103,302,191 (GRCm39)	K169E	probably damaging	Het
Cav1	A	G	6: 17,339,359 (GRCm39)	Y148C	probably damaging	Het
Cep112	T	C	11: 108,328,027 (GRCm39)		probably benign	Het
Chaf1b	T	C	16: 93,688,399 (GRCm39)	S165P	probably damaging	Het
Crat	A	G	2: 30,292,703 (GRCm39)	S115P	probably damaging	Het
Eif2b1	A	G	5: 124,714,917 (GRCm39)	S120P	probably damaging	Het
Epor	A	G	9: 21,872,016 (GRCm39)	S236P	probably damaging	Het
Ggt1	T	A	10: 75,417,219 (GRCm39)	Y5*	probably null	Het
Igfbpl1	T	C	4: 45,816,289 (GRCm39)	T179A	probably damaging	Het
Ighv14-4	T	G	12: 114,140,068 (GRCm39)	Y114S	probably damaging	Het
Ipcef1	T	C	10: 6,929,657 (GRCm39)	I29V	probably benign	Het
Junb	A	G	8: 85,704,137 (GRCm39)	S308P	probably damaging	Het
Ltbp1	G	A	17: 75,312,978 (GRCm39)	R33H	possibly damaging	Het
Map3k20	C	A	2: 72,263,764 (GRCm39)	T471K	probably damaging	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Odad4	T	A	11: 100,444,405 (GRCm39)	W237R	probably damaging	Het
Or51a10	T	C	7: 103,698,638 (GRCm39)	M308V	probably benign	Het
Or8g35	A	T	9: 39,381,924 (GRCm39)	S33T	probably benign	Het
Patj	T	C	4: 98,325,687 (GRCm39)	V508A	possibly damaging	Het
Pkd1	T	C	17: 24,795,464 (GRCm39)	V2319A	probably damaging	Het
Pnpla7	A	G	2: 24,942,330 (GRCm39)	Y83C	probably damaging	Het
Prb1a	G	C	6: 132,187,425 (GRCm39)	Q19E	unknown	Het
Rasa3	T	C	8: 13,645,373 (GRCm39)	T189A	possibly damaging	Het
Reck	T	A	4: 43,938,966 (GRCm39)	D777E	probably benign	Het
Rfx6	A	G	10: 51,569,873 (GRCm39)		probably benign	Het
Serpinb13	A	G	1: 106,928,157 (GRCm39)	D259G	probably damaging	Het
Slit2	G	A	5: 48,346,917 (GRCm39)	R253Q	possibly damaging	Het
Slu7	A	G	11: 43,331,475 (GRCm39)	E203G	probably benign	Het
Syt4	A	T	18: 31,576,597 (GRCm39)	D252E	probably benign	Het
Tpte	A	G	8: 22,801,294 (GRCm39)		probably null	Het
Ttll7	A	G	3: 146,653,376 (GRCm39)	Y729C	probably damaging	Het
Usp35	T	A	7: 96,961,354 (GRCm39)	T691S	probably benign	Het
Vmn1r211	A	G	13: 23,036,586 (GRCm39)	V27A	probably benign	Het
Vmn2r72	T	C	7: 85,400,477 (GRCm39)	T191A	possibly damaging	Het
Vwa5b1	C	T	4: 138,321,614 (GRCm39)	G393D	probably damaging	Het

Other mutations in Kcnh5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Kcnh5	APN	12	74,944,570 (GRCm39)	missense	probably benign	0.00
IGL00675:Kcnh5	APN	12	75,160,963 (GRCm39)	critical splice donor site	probably null
IGL00688:Kcnh5	APN	12	74,945,171 (GRCm39)	missense	probably benign	0.01
IGL00721:Kcnh5	APN	12	75,054,450 (GRCm39)	missense	probably benign	0.32
IGL00793:Kcnh5	APN	12	75,161,120 (GRCm39)	missense	probably damaging	0.99
IGL00802:Kcnh5	APN	12	75,054,399 (GRCm39)	missense	possibly damaging	0.62
IGL00920:Kcnh5	APN	12	75,023,267 (GRCm39)	missense	probably damaging	1.00
IGL01595:Kcnh5	APN	12	74,945,101 (GRCm39)	missense	probably benign	0.05
IGL01642:Kcnh5	APN	12	75,011,943 (GRCm39)	missense	probably damaging	0.98
IGL01675:Kcnh5	APN	12	75,161,274 (GRCm39)	nonsense	probably null
IGL01733:Kcnh5	APN	12	75,011,966 (GRCm39)	missense	probably benign	0.02
IGL02006:Kcnh5	APN	12	74,944,322 (GRCm39)	missense	probably damaging	0.99
IGL02075:Kcnh5	APN	12	75,134,379 (GRCm39)	missense	probably benign	0.00
IGL02148:Kcnh5	APN	12	74,944,426 (GRCm39)	missense	possibly damaging	0.86
IGL02155:Kcnh5	APN	12	75,223,312 (GRCm39)	utr 5 prime	probably benign
IGL02304:Kcnh5	APN	12	75,023,471 (GRCm39)	missense	probably benign	0.01
IGL02957:Kcnh5	APN	12	75,054,439 (GRCm39)	missense	probably benign	0.01
R0305:Kcnh5	UTSW	12	75,161,171 (GRCm39)	missense	probably benign	0.00
R0470:Kcnh5	UTSW	12	75,161,188 (GRCm39)	missense	probably benign	0.22
R0553:Kcnh5	UTSW	12	75,184,447 (GRCm39)	missense	probably benign	0.00
R0557:Kcnh5	UTSW	12	75,161,323 (GRCm39)	missense	probably damaging	1.00
R0590:Kcnh5	UTSW	12	75,012,035 (GRCm39)	missense	probably damaging	1.00
R0697:Kcnh5	UTSW	12	75,023,305 (GRCm39)	missense	possibly damaging	0.80
R0699:Kcnh5	UTSW	12	75,023,305 (GRCm39)	missense	possibly damaging	0.80
R1512:Kcnh5	UTSW	12	75,166,711 (GRCm39)	missense	probably benign
R1728:Kcnh5	UTSW	12	75,184,465 (GRCm39)	missense	probably benign	0.18
R1739:Kcnh5	UTSW	12	75,161,003 (GRCm39)	missense	probably damaging	1.00
R1784:Kcnh5	UTSW	12	75,184,465 (GRCm39)	missense	probably benign	0.18
R1956:Kcnh5	UTSW	12	74,944,358 (GRCm39)	missense	probably benign	0.01
R1957:Kcnh5	UTSW	12	74,944,358 (GRCm39)	missense	probably benign	0.01
R2155:Kcnh5	UTSW	12	74,945,230 (GRCm39)	critical splice acceptor site	probably null
R2185:Kcnh5	UTSW	12	75,177,705 (GRCm39)	missense	possibly damaging	0.95
R2237:Kcnh5	UTSW	12	75,054,493 (GRCm39)	missense	probably benign	0.00
R2239:Kcnh5	UTSW	12	75,054,493 (GRCm39)	missense	probably benign	0.00
R2483:Kcnh5	UTSW	12	75,161,245 (GRCm39)	missense	probably damaging	1.00
R3767:Kcnh5	UTSW	12	75,134,350 (GRCm39)	missense	possibly damaging	0.81
R3835:Kcnh5	UTSW	12	74,945,044 (GRCm39)	missense	probably benign
R4681:Kcnh5	UTSW	12	75,054,397 (GRCm39)	missense	probably benign	0.00
R4728:Kcnh5	UTSW	12	75,054,555 (GRCm39)	missense	probably damaging	1.00
R4965:Kcnh5	UTSW	12	75,011,925 (GRCm39)	missense	probably benign	0.11
R5127:Kcnh5	UTSW	12	74,944,858 (GRCm39)	missense	probably benign	0.17
R5267:Kcnh5	UTSW	12	75,134,190 (GRCm39)	missense	probably damaging	0.98
R5535:Kcnh5	UTSW	12	75,177,681 (GRCm39)	missense	possibly damaging	0.76
R5590:Kcnh5	UTSW	12	75,023,463 (GRCm39)	missense	probably benign	0.05
R5684:Kcnh5	UTSW	12	75,184,423 (GRCm39)	missense	probably damaging	1.00
R5747:Kcnh5	UTSW	12	74,945,194 (GRCm39)	missense	probably benign	0.04
R6123:Kcnh5	UTSW	12	75,134,365 (GRCm39)	missense	probably benign	0.01
R6545:Kcnh5	UTSW	12	75,054,432 (GRCm39)	missense	probably damaging	1.00
R6662:Kcnh5	UTSW	12	75,054,385 (GRCm39)	missense	probably damaging	1.00
R7117:Kcnh5	UTSW	12	75,161,219 (GRCm39)	missense	possibly damaging	0.87
R7161:Kcnh5	UTSW	12	74,944,483 (GRCm39)	missense	probably benign	0.10
R7437:Kcnh5	UTSW	12	75,184,417 (GRCm39)	critical splice donor site	probably null
R7557:Kcnh5	UTSW	12	75,054,399 (GRCm39)	missense	possibly damaging	0.62
R7566:Kcnh5	UTSW	12	75,161,166 (GRCm39)	nonsense	probably null
R7591:Kcnh5	UTSW	12	75,054,541 (GRCm39)	missense	probably benign	0.24
R7781:Kcnh5	UTSW	12	75,023,455 (GRCm39)	missense	probably damaging	0.99
R7816:Kcnh5	UTSW	12	75,023,457 (GRCm39)	missense	probably damaging	1.00
R8152:Kcnh5	UTSW	12	74,944,633 (GRCm39)	missense	possibly damaging	0.68
R8390:Kcnh5	UTSW	12	75,134,532 (GRCm39)	missense	probably damaging	1.00
R8560:Kcnh5	UTSW	12	75,023,379 (GRCm39)	missense	probably damaging	1.00
R9056:Kcnh5	UTSW	12	74,944,774 (GRCm39)	missense	probably benign	0.00
R9064:Kcnh5	UTSW	12	75,177,727 (GRCm39)	nonsense	probably null
R9283:Kcnh5	UTSW	12	75,023,307 (GRCm39)	missense	probably damaging	1.00
R9290:Kcnh5	UTSW	12	75,023,488 (GRCm39)	missense	probably benign	0.00
R9552:Kcnh5	UTSW	12	75,023,334 (GRCm39)	missense	probably benign	0.28
R9576:Kcnh5	UTSW	12	74,944,307 (GRCm39)	missense	probably benign	0.00
R9627:Kcnh5	UTSW	12	75,160,990 (GRCm39)	missense	probably damaging	0.99
R9645:Kcnh5	UTSW	12	75,134,191 (GRCm39)	missense	probably benign	0.32
R9650:Kcnh5	UTSW	12	75,023,293 (GRCm39)	missense	probably benign	0.32
Z1088:Kcnh5	UTSW	12	75,012,069 (GRCm39)	missense	possibly damaging	0.78
Z1088:Kcnh5	UTSW	12	74,944,535 (GRCm39)	missense	probably benign	0.00
Z1177:Kcnh5	UTSW	12	75,161,296 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnh5	UTSW	12	75,054,571 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGCTTCGGGTCAGAAATGAC -3'
(R):5'- CAAACTTTGGGGCAGTTCGG -3'

Sequencing Primer
(F):5'- GCCCCACAAAAGTCGTGTG -3'
(R):5'- CTTTGGGGCAGTTCGGAAAAG -3'

Posted On

2014-12-04