Mutagenetix > Incidental Mutation

Incidental Mutation 'R3835:Kcnh5'

275599

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

040890-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3835 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74943994-75224106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74945044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 735 (Q735L)

Ref Sequence

ENSEMBL: ENSMUSP00000046864 (fasta)

Gene Model

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

AlphaFold

Q920E3

Predicted Effect

probably benign
Transcript: ENSMUST00000042299
AA Change: Q735L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: Q735L

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

0.0598

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (43/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,216,254 (GRCm39)	I479T	probably damaging	Het
Adh6a	G	A	3: 138,033,275 (GRCm39)		probably null	Het
Anapc7	A	G	5: 122,581,940 (GRCm39)	T528A	possibly damaging	Het
Ap5b1	A	G	19: 5,618,918 (GRCm39)	T113A	possibly damaging	Het
Apaf1	G	A	10: 90,895,449 (GRCm39)	R439C	probably benign	Het
Apoa5	A	T	9: 46,181,878 (GRCm39)	H318L	probably damaging	Het
Bltp2	A	G	11: 78,169,911 (GRCm39)	R1545G	probably benign	Het
Btnl9	T	G	11: 49,071,512 (GRCm39)	T104P	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Dennd5a	T	C	7: 109,533,449 (GRCm39)	K107R	probably benign	Het
Dthd1	A	T	5: 63,007,128 (GRCm39)	R610W	probably damaging	Het
Eno1	T	C	4: 150,331,119 (GRCm39)	S186P	probably benign	Het
Gipc2	C	A	3: 151,833,823 (GRCm39)	V153F	probably damaging	Het
Gpt	A	G	15: 76,582,783 (GRCm39)	Y295C	probably damaging	Het
Lrrc10	A	G	10: 116,881,691 (GRCm39)	N122D	possibly damaging	Het
Lrrc37	C	A	11: 103,510,836 (GRCm39)	L377F	unknown	Het
Meis2	T	C	2: 115,752,228 (GRCm39)	H301R	probably damaging	Het
Muc5b	A	T	7: 141,412,918 (GRCm39)	I1955F	unknown	Het
Nalcn	A	T	14: 123,530,834 (GRCm39)		probably benign	Het
Nmt2	T	C	2: 3,315,723 (GRCm39)		probably benign	Het
Nnt	C	T	13: 119,509,031 (GRCm39)	G403R	probably damaging	Het
Or4a79	T	G	2: 89,551,799 (GRCm39)	I219L	possibly damaging	Het
Or4d6	T	A	19: 12,086,764 (GRCm39)	I49F	possibly damaging	Het
Or5b109	A	T	19: 13,212,103 (GRCm39)	D163V	probably benign	Het
Ovgp1	A	G	3: 105,893,631 (GRCm39)	E468G	probably benign	Het
Pax6	G	A	2: 105,526,795 (GRCm39)	E234K	probably benign	Het
Prkdc	A	G	16: 15,609,810 (GRCm39)	E3138G	probably damaging	Het
Prmt6	T	C	3: 110,158,121 (GRCm39)	D56G	possibly damaging	Het
Ptprt	A	G	2: 161,389,307 (GRCm39)	V1261A	probably damaging	Het
Qtrt2	A	G	16: 43,701,435 (GRCm39)	S42P	probably damaging	Het
Rab9b	C	T	X: 135,762,259 (GRCm39)	R47Q	possibly damaging	Het
Rpgrip1	A	G	14: 52,384,710 (GRCm39)	E606G	probably damaging	Het
Setx	C	T	2: 29,035,072 (GRCm39)	S519L	possibly damaging	Het
Slc15a2	A	T	16: 36,592,490 (GRCm39)	C191*	probably null	Het
Snrk	T	C	9: 121,966,069 (GRCm39)		probably benign	Het
St6galnac1	T	C	11: 116,657,109 (GRCm39)	D422G	probably damaging	Het
Stag1	C	T	9: 100,620,035 (GRCm39)	T46I	probably damaging	Het
Tagln	T	C	9: 45,843,008 (GRCm39)	I18V	probably benign	Het
Tasor2	T	C	13: 3,625,292 (GRCm39)	T1553A	probably benign	Het
Tbx18	C	A	9: 87,611,689 (GRCm39)	A114S	probably benign	Het
Ttc16	T	C	2: 32,659,322 (GRCm39)	D259G	probably damaging	Het
Vldlr	A	G	19: 27,212,214 (GRCm39)	D76G	probably damaging	Het
Vmn2r24	G	T	6: 123,764,412 (GRCm39)	D430Y	probably benign	Het
Xlr3a	T	C	X: 72,138,644 (GRCm39)	E5G	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
R2655:Kcnh5	UTSW	12	75,161,314 (GRCm39)	missense	probably damaging	1.00
R3767:Kcnh5	UTSW	12	75,134,350 (GRCm39)	missense	possibly damaging	0.81
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'- ACATTTGGGTTCAGCGCCAC -3'
(R):5'- GCTTCAGTAACCATGGTTTCC -3'

Sequencing Primer
(F):5'- ACCATTGGGCTTCAGTTCCATG -3'
(R):5'- CCAGATCATCTTCCGTAAAATTAGTG -3'

Posted On

2015-04-06