Mutagenetix > Incidental Mutation

Incidental Mutation 'R5127:Kcnh5'

394831

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

042715-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5127 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74943994-75224106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74944858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 797 (V797A)

Ref Sequence

ENSEMBL: ENSMUSP00000046864 (fasta)

Gene Model

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

AlphaFold

Q920E3

Predicted Effect

probably benign
Transcript: ENSMUST00000042299
AA Change: V797A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: V797A

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

0.0600

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

93% (42/45)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,902,826 (GRCm39)	K497E	probably damaging	Het
4933413J09Rik	A	G	14: 26,097,462 (GRCm39)		noncoding transcript	Het
Aox1	A	T	1: 58,069,185 (GRCm39)	I4F	probably benign	Het
Arhgef5	A	T	6: 43,250,148 (GRCm39)	N300Y	probably damaging	Het
B530045E10Rik	A	G	10: 99,257,983 (GRCm39)		noncoding transcript	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cdh20	A	G	1: 104,875,073 (GRCm39)	E285G	probably damaging	Het
Cfap54	A	T	10: 92,722,249 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,696,067 (GRCm39)	C2667R	unknown	Het
Cts8	C	T	13: 61,401,149 (GRCm39)	V126M	probably damaging	Het
Dag1	A	T	9: 108,084,771 (GRCm39)	I790N	possibly damaging	Het
Ddit4	A	G	10: 59,786,491 (GRCm39)	I186T	probably damaging	Het
Dnajc11	T	A	4: 152,054,271 (GRCm39)		probably benign	Het
Farsa	A	G	8: 85,595,593 (GRCm39)	D495G	probably benign	Het
Gm1527	T	A	3: 28,957,567 (GRCm39)	I157N	probably damaging	Het
Gm5773	T	A	3: 93,680,735 (GRCm39)	W136R	probably benign	Het
Hpse	C	A	5: 100,867,403 (GRCm39)	A20S	unknown	Het
Igfn1	A	G	1: 135,887,634 (GRCm39)	Y2477H	probably damaging	Het
Kptn	T	A	7: 15,859,710 (GRCm39)	C311*	probably null	Het
Lpcat2	A	T	8: 93,635,819 (GRCm39)	N407I	possibly damaging	Het
Lrp1	T	A	10: 127,375,503 (GRCm39)		probably benign	Het
Ovol2	C	T	2: 144,159,780 (GRCm39)	C120Y	probably damaging	Het
Pcdhac2	G	T	18: 37,277,352 (GRCm39)	E111*	probably null	Het
Pknox1	C	T	17: 31,809,713 (GRCm39)	P106S	probably benign	Het
Plet1	C	T	9: 50,415,595 (GRCm39)	T155I	probably benign	Het
Ppfia2	A	G	10: 106,671,621 (GRCm39)	K444R	probably damaging	Het
Prrc2c	A	T	1: 162,525,415 (GRCm39)	I397N	unknown	Het
Ranbp1	A	G	16: 18,065,151 (GRCm39)		probably null	Het
Raver2	T	C	4: 100,960,182 (GRCm39)	C221R	probably damaging	Het
Reps1	A	G	10: 17,969,628 (GRCm39)	T244A	probably benign	Het
Slc22a16	G	A	10: 40,449,953 (GRCm39)	V130I	probably benign	Het
Stmnd1	G	A	13: 46,453,071 (GRCm39)	S249N	probably benign	Het
Styx	A	G	14: 45,610,961 (GRCm39)		probably null	Het
Sult1b1	T	G	5: 87,669,407 (GRCm39)	N147T	probably damaging	Het
Tbc1d2	G	A	4: 46,633,639 (GRCm39)		probably benign	Het
Tm4sf1	T	G	3: 57,200,289 (GRCm39)	I109L	possibly damaging	Het
Ufl1	T	C	4: 25,256,010 (GRCm39)	E423G	probably benign	Het
Unc13c	T	C	9: 73,840,654 (GRCm39)	I66V	probably benign	Het
Wfdc10	C	T	2: 164,499,060 (GRCm39)	Q57*	probably null	Het
Zeb1os1	T	C	18: 5,567,390 (GRCm39)		noncoding transcript	Het
Zfp369	A	T	13: 65,426,847 (GRCm39)		probably benign	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
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
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'- AGGGGTTCTTGGTCACACTG -3'
(R):5'- GCACAGAGTGATCCTGAGAG -3'

Sequencing Primer
(F):5'- GGTCACACTGTTCTCTGAGTCACTG -3'
(R):5'- CAGCTTCAGGTAGAGAGCCG -3'

Posted On

2016-06-21