Mutagenetix > Incidental Mutation

Incidental Mutation 'R2237:Kcnh5'

240485

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

040237-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2237 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74897220-75177332 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75007719 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 484 (M484L)

Ref Sequence

ENSEMBL: ENSMUSP00000046864 (fasta)

Gene Model

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

AlphaFold

Q920E3

Predicted Effect

probably benign
Transcript: ENSMUST00000042299
AA Change: M484L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: M484L

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

0.0669

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
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 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,160	M313K	possibly damaging	Het
4931409K22Rik	A	T	5: 24,548,294	N453K	probably benign	Het
Adam18	T	C	8: 24,646,287	E406G	probably benign	Het
Alox8	A	C	11: 69,185,771	S572A	probably benign	Het
Aoah	G	A	13: 20,794,311		probably benign	Het
Arhgap36	G	T	X: 49,493,405	V60L	possibly damaging	Het
Arhgef37	T	A	18: 61,504,406	Y395F	probably damaging	Het
Bard1	G	A	1: 71,074,976	P282L	probably damaging	Het
Brd7	T	A	8: 88,346,913	E283V	probably benign	Het
Btbd9	T	C	17: 30,334,328	I387V	probably benign	Het
Cacna1a	T	C	8: 84,633,765		probably null	Het
Cacna1c	T	C	6: 118,652,743	Q1205R	possibly damaging	Het
Camsap2	A	T	1: 136,345,331	L36Q	probably damaging	Het
Ccnj	T	C	19: 40,845,775	F261L	probably benign	Het
Cd200r4	T	A	16: 44,820,897	M1K	probably null	Het
Cdca7l	A	G	12: 117,874,026	E237G	probably damaging	Het
Cep128	T	C	12: 91,347,567	T146A	probably benign	Het
Clhc1	T	G	11: 29,569,329	S379A	probably benign	Het
Dbf4	T	A	5: 8,408,542	I158L	possibly damaging	Het
Deup1	A	C	9: 15,575,301	I455S	probably damaging	Het
Dlec1	T	C	9: 119,138,191		probably null	Het
Eomes	A	G	9: 118,482,291	D394G	probably damaging	Het
Epn1	A	G	7: 5,097,602	N518S	probably damaging	Het
Espl1	G	A	15: 102,315,569	R1185H	probably damaging	Het
Evc2	T	C	5: 37,378,183	S401P	probably benign	Het
Fbxw15	A	G	9: 109,555,235	S403P	probably damaging	Het
Gm7534	A	C	4: 134,202,205	M263R	unknown	Het
Hsd17b1	G	A	11: 101,079,826	V236M	probably damaging	Het
Htatsf1	G	T	X: 57,066,504	D642Y	unknown	Het
Itpripl2	T	C	7: 118,490,071	T422A	probably benign	Het
Izumo4	T	C	10: 80,702,830	S39P	probably damaging	Het
Kctd8	T	A	5: 69,110,409	I453F	probably damaging	Het
Kif5c	A	G	2: 49,694,008	T152A	probably benign	Het
Kntc1	T	C	5: 123,803,670	V1809A	possibly damaging	Het
L3mbtl2	A	T	15: 81,684,330	T512S	probably benign	Het
Ltbp1	C	A	17: 75,310,163	D1032E	probably benign	Het
Mindy4	T	C	6: 55,301,070	F633S	probably damaging	Het
Muc5b	T	G	7: 141,862,089	I2924S	probably benign	Het
Nfe2l2	G	A	2: 75,676,554	P401S	probably benign	Het
Nid1	T	C	13: 13,500,485	V930A	probably benign	Het
Nt5c1b	C	A	12: 10,375,558	T309K	probably damaging	Het
Nt5m	A	G	11: 59,852,870	K108R	probably benign	Het
Olfr1341	A	G	4: 118,709,995	D196G	probably damaging	Het
Olfr1417	T	C	19: 11,828,450	D192G	probably damaging	Het
Osbpl9	T	A	4: 109,156,657	Q80L	probably damaging	Het
Osm	A	G	11: 4,238,505	N44S	possibly damaging	Het
Pclo	C	T	5: 14,713,938	P4142S	unknown	Het
Pdlim2	T	G	14: 70,171,249	T173P	probably benign	Het
Pex1	T	C	5: 3,618,915		probably null	Het
Phka2	A	G	X: 160,541,412	E254G	probably damaging	Het
Pik3cb	A	G	9: 99,041,028	Y984H	probably damaging	Het
Plscr2	T	C	9: 92,290,824	C179R	probably damaging	Het
Rbpms2	C	A	9: 65,651,611	Y183*	probably null	Het
Ryr2	T	A	13: 11,662,260	E3235V	probably benign	Het
Sesn3	T	C	9: 14,308,465	V50A	probably benign	Het
Siglecf	T	C	7: 43,354,985	V246A	probably benign	Het
Sp2	C	T	11: 96,955,936	C527Y	probably damaging	Het
Spata4	A	C	8: 54,602,629	K185T	probably benign	Het
Spin2c	A	G	X: 153,833,676	I162V	probably damaging	Het
Stac	G	A	9: 111,690,122		probably benign	Het
Tas1r3	A	T	4: 155,862,218	M310K	possibly damaging	Het
Tenm3	G	A	8: 48,342,337	P585L	probably damaging	Het
Tnfsf11	A	T	14: 78,299,981	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,771,147	T984I	probably benign	Het
Ttll2	G	A	17: 7,352,123	T135I	probably benign	Het
Ubr4	A	G	4: 139,442,790	S1584G	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn2r80	G	A	10: 79,168,270	E106K	probably damaging	Het
Xpc	T	C	6: 91,498,108	H643R	probably damaging	Het
Zan	G	A	5: 137,457,837	Q1354*	probably null	Het

Other mutations in Kcnh5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Kcnh5	APN	12	74897796	missense	probably benign	0.00
IGL00675:Kcnh5	APN	12	75114189	critical splice donor site	probably null
IGL00688:Kcnh5	APN	12	74898397	missense	probably benign	0.01
IGL00721:Kcnh5	APN	12	75007676	missense	probably benign	0.32
IGL00793:Kcnh5	APN	12	75114346	missense	probably damaging	0.99
IGL00802:Kcnh5	APN	12	75007625	missense	possibly damaging	0.62
IGL00920:Kcnh5	APN	12	74976493	missense	probably damaging	1.00
IGL01595:Kcnh5	APN	12	74898327	missense	probably benign	0.05
IGL01642:Kcnh5	APN	12	74965169	missense	probably damaging	0.98
IGL01675:Kcnh5	APN	12	75114500	nonsense	probably null
IGL01733:Kcnh5	APN	12	74965192	missense	probably benign	0.02
IGL02006:Kcnh5	APN	12	74897548	missense	probably damaging	0.99
IGL02075:Kcnh5	APN	12	75087605	missense	probably benign	0.00
IGL02148:Kcnh5	APN	12	74897652	missense	possibly damaging	0.86
IGL02155:Kcnh5	APN	12	75176538	utr 5 prime	probably benign
IGL02304:Kcnh5	APN	12	74976697	missense	probably benign	0.01
IGL02957:Kcnh5	APN	12	75007665	missense	probably benign	0.01
R0305:Kcnh5	UTSW	12	75114397	missense	probably benign	0.00
R0470:Kcnh5	UTSW	12	75114414	missense	probably benign	0.22
R0553:Kcnh5	UTSW	12	75137673	missense	probably benign	0.00
R0557:Kcnh5	UTSW	12	75114549	missense	probably damaging	1.00
R0590:Kcnh5	UTSW	12	74965261	missense	probably damaging	1.00
R0697:Kcnh5	UTSW	12	74976531	missense	possibly damaging	0.80
R0699:Kcnh5	UTSW	12	74976531	missense	possibly damaging	0.80
R1512:Kcnh5	UTSW	12	75119937	missense	probably benign
R1728:Kcnh5	UTSW	12	75137691	missense	probably benign	0.18
R1739:Kcnh5	UTSW	12	75114229	missense	probably damaging	1.00
R1784:Kcnh5	UTSW	12	75137691	missense	probably benign	0.18
R1956:Kcnh5	UTSW	12	74897584	missense	probably benign	0.01
R1957:Kcnh5	UTSW	12	74897584	missense	probably benign	0.01
R2155:Kcnh5	UTSW	12	74898456	critical splice acceptor site	probably null
R2185:Kcnh5	UTSW	12	75130931	missense	possibly damaging	0.95
R2239:Kcnh5	UTSW	12	75007719	missense	probably benign	0.00
R2483:Kcnh5	UTSW	12	75114471	missense	probably damaging	1.00
R2655:Kcnh5	UTSW	12	75114540	missense	probably damaging	1.00
R3767:Kcnh5	UTSW	12	75087576	missense	possibly damaging	0.81
R3835:Kcnh5	UTSW	12	74898270	missense	probably benign
R4681:Kcnh5	UTSW	12	75007623	missense	probably benign	0.00
R4728:Kcnh5	UTSW	12	75007781	missense	probably damaging	1.00
R4965:Kcnh5	UTSW	12	74965151	missense	probably benign	0.11
R5127:Kcnh5	UTSW	12	74898084	missense	probably benign	0.17
R5267:Kcnh5	UTSW	12	75087416	missense	probably damaging	0.98
R5535:Kcnh5	UTSW	12	75130907	missense	possibly damaging	0.76
R5590:Kcnh5	UTSW	12	74976689	missense	probably benign	0.05
R5684:Kcnh5	UTSW	12	75137649	missense	probably damaging	1.00
R5747:Kcnh5	UTSW	12	74898420	missense	probably benign	0.04
R6123:Kcnh5	UTSW	12	75087591	missense	probably benign	0.01
R6545:Kcnh5	UTSW	12	75007658	missense	probably damaging	1.00
R6662:Kcnh5	UTSW	12	75007611	missense	probably damaging	1.00
R7117:Kcnh5	UTSW	12	75114445	missense	possibly damaging	0.87
R7161:Kcnh5	UTSW	12	74897709	missense	probably benign	0.10
R7437:Kcnh5	UTSW	12	75137643	critical splice donor site	probably null
R7557:Kcnh5	UTSW	12	75007625	missense	possibly damaging	0.62
R7566:Kcnh5	UTSW	12	75114392	nonsense	probably null
R7591:Kcnh5	UTSW	12	75007767	missense	probably benign	0.24
R7781:Kcnh5	UTSW	12	74976681	missense	probably damaging	0.99
R7816:Kcnh5	UTSW	12	74976683	missense	probably damaging	1.00
R8152:Kcnh5	UTSW	12	74897859	missense	possibly damaging	0.68
R8390:Kcnh5	UTSW	12	75087758	missense	probably damaging	1.00
R8560:Kcnh5	UTSW	12	74976605	missense	probably damaging	1.00
R9056:Kcnh5	UTSW	12	74898000	missense	probably benign	0.00
R9064:Kcnh5	UTSW	12	75130953	nonsense	probably null
R9283:Kcnh5	UTSW	12	74976533	missense	probably damaging	1.00
R9290:Kcnh5	UTSW	12	74976714	missense	probably benign	0.00
R9552:Kcnh5	UTSW	12	74976560	missense	probably benign	0.28
R9576:Kcnh5	UTSW	12	74897533	missense	probably benign	0.00
R9627:Kcnh5	UTSW	12	75114216	missense	probably damaging	0.99
R9645:Kcnh5	UTSW	12	75087417	missense	probably benign	0.32
R9650:Kcnh5	UTSW	12	74976519	missense	probably benign	0.32
Z1088:Kcnh5	UTSW	12	74897761	missense	probably benign	0.00
Z1088:Kcnh5	UTSW	12	74965295	missense	possibly damaging	0.78
Z1177:Kcnh5	UTSW	12	75007797	missense	possibly damaging	0.90
Z1177:Kcnh5	UTSW	12	75114522	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAGGGCAATTGTGAATGG -3'
(R):5'- GCAGTGTAGTCAGGACTTCC -3'

Sequencing Primer
(F):5'- TGTGAATGGGAAATGTACATACATC -3'
(R):5'- CAGCTCTTCTTTATGCAACTAT -3'

Posted On

2014-10-15