Mutagenetix > Incidental Mutation

Incidental Mutation 'R7322:Kcna5'

568211

Institutional Source

Beutler Lab

Gene Symbol

Kcna5

Ensembl Gene

ENSMUSG00000045534

Gene Name

potassium voltage-gated channel, shaker-related subfamily, member 5

Synonyms

Kv1.5

MMRRC Submission

045417-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R7322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126509514-126512375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126510754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 458 (D458G)

Ref Sequence

ENSEMBL: ENSMUSP00000055673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060972]

AlphaFold

Q61762

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060972
AA Change: D458G

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055673
Gene: ENSMUSG00000045534
AA Change: D458G

Domain	Start	End	E-Value	Type
low complexity region	65	80	N/A	INTRINSIC
low complexity region	83	94	N/A	INTRINSIC
BTB	111	211	5e-7	SMART
Pfam:Ion_trans	240	516	6.6e-54	PFAM
Pfam:Ion_trans_2	424	509	1.4e-15	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal microglial proliferation and nitric oxide release after LPS treatment or facial nerve lesion. Mice homozygous for a knock-in allele exhibit impaired hypoxic pulmonary vasoconstriction, and resistance to drug-induced cardiac QT prolongation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,067,151 (GRCm39)	V1352D	probably damaging	Het
Adam33	C	T	2: 130,895,614 (GRCm39)	C567Y	probably damaging	Het
Alppl2	C	A	1: 87,015,184 (GRCm39)	G422C	probably benign	Het
Ang	T	A	14: 51,338,868 (GRCm39)	I3K	unknown	Het
Ankrd10	A	T	8: 11,665,841 (GRCm39)	V253E	probably damaging	Het
Arhgef17	T	C	7: 100,527,004 (GRCm39)	I806V	probably benign	Het
Atp10b	T	C	11: 43,103,374 (GRCm39)	L586P	probably damaging	Het
Bdkrb1	T	C	12: 105,570,563 (GRCm39)	V43A	possibly damaging	Het
Brinp3	C	T	1: 146,558,426 (GRCm39)	R117*	probably null	Het
Brwd1	A	T	16: 95,867,319 (GRCm39)	M172K	probably damaging	Het
Bsn	G	A	9: 108,003,620 (GRCm39)	R262*	probably null	Het
Bst2	A	C	8: 71,989,851 (GRCm39)	L74R	probably damaging	Het
C1qa	T	C	4: 136,623,465 (GRCm39)	*246W	probably null	Het
Cadm2	G	A	16: 66,679,734 (GRCm39)	T42M	probably damaging	Het
Ccdc150	A	G	1: 54,299,125 (GRCm39)	T34A	probably benign	Het
Ccdc178	G	A	18: 22,238,606 (GRCm39)	T337M	probably benign	Het
Ccl8	T	C	11: 82,007,408 (GRCm39)	V81A	probably damaging	Het
Dgcr6	A	G	16: 17,888,771 (GRCm39)	T69A	unknown	Het
Dnah10	A	G	5: 124,898,333 (GRCm39)	D3762G	probably benign	Het
Eif3d	T	C	15: 77,845,876 (GRCm39)	T382A	probably benign	Het
Epb41	A	T	4: 131,717,030 (GRCm39)	Y375N	probably damaging	Het
Epb41l1	A	T	2: 156,345,771 (GRCm39)	H258L	probably damaging	Het
Fbn1	A	C	2: 125,321,115 (GRCm39)	I81S	possibly damaging	Het
Fzd5	A	G	1: 64,774,487 (GRCm39)	S425P	probably damaging	Het
Gfra2	T	A	14: 71,205,831 (GRCm39)	V398D	probably benign	Het
Gm3755	A	G	14: 18,620,904 (GRCm39)	L130P		Het
Grin3b	A	G	10: 79,811,529 (GRCm39)	Y705C	probably damaging	Het
Hmcn2	A	G	2: 31,349,093 (GRCm39)	D4944G	probably damaging	Het
Hoxd11	T	C	2: 74,514,355 (GRCm39)	L295P	probably damaging	Het
Ighv1-81	C	A	12: 115,884,287 (GRCm39)	G16C	possibly damaging	Het
Klb	A	T	5: 65,540,707 (GRCm39)	E933D	probably benign	Het
Lrp1	A	T	10: 127,381,433 (GRCm39)	M3855K	probably benign	Het
Map3k4	A	T	17: 12,489,833 (GRCm39)	L533I	probably damaging	Het
Mrps6	C	A	16: 91,855,335 (GRCm39)	Y4*	probably null	Het
Nabp1	A	T	1: 51,512,229 (GRCm39)	V105E	probably damaging	Het
Naip6	T	A	13: 100,435,896 (GRCm39)	N876Y	possibly damaging	Het
Nlrp2	T	C	7: 5,311,644 (GRCm39)	S944G	possibly damaging	Het
Nr4a3	A	T	4: 48,083,238 (GRCm39)	E590D	probably benign	Het
Or10h5	A	G	17: 33,434,673 (GRCm39)	I215T	probably damaging	Het
Or1b1	T	C	2: 36,995,603 (GRCm39)	R20G	probably null	Het
Or52ab2	T	A	7: 102,970,494 (GRCm39)	V292E		Het
Or5j1	A	T	2: 86,878,823 (GRCm39)	Y252*	probably null	Het
Or8k22	C	T	2: 86,162,908 (GRCm39)	S264N	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pdzd2	T	C	15: 12,437,248 (GRCm39)	D451G	probably damaging	Het
Pkd2l1	A	G	19: 44,146,129 (GRCm39)	S142P	probably benign	Het
Postn	T	C	3: 54,277,701 (GRCm39)	L232P	probably damaging	Het
Prss8	T	C	7: 127,528,735 (GRCm39)	T33A	probably benign	Het
Ptgr3	A	G	18: 84,113,260 (GRCm39)	Y312C	probably damaging	Het
Rapgef2	A	T	3: 79,053,130 (GRCm39)	M1K	probably null	Het
Rasa3	T	C	8: 13,645,857 (GRCm39)	N161S	possibly damaging	Het
Riox1	G	A	12: 83,997,442 (GRCm39)		probably benign	Het
Rmdn2	A	T	17: 79,929,040 (GRCm39)	K97N	probably damaging	Het
Sgo1	A	G	17: 53,984,085 (GRCm39)	L431P	probably damaging	Het
Slc9a8	T	A	2: 167,293,222 (GRCm39)	V217E	probably damaging	Het
Slco2b1	C	T	7: 99,341,055 (GRCm39)	G21D	not run	Het
Spata31d1d	C	A	13: 59,874,790 (GRCm39)	R915L	probably benign	Het
Stk17b	A	T	1: 53,805,104 (GRCm39)	N152K	probably benign	Het
Syne2	T	A	12: 76,030,798 (GRCm39)	I3634N	probably damaging	Het
Tnfrsf9	A	G	4: 151,018,794 (GRCm39)	D155G	probably damaging	Het
Tnrc6a	T	A	7: 122,770,731 (GRCm39)	D840E	probably benign	Het
Tyk2	G	A	9: 21,021,500 (GRCm39)	S902L	probably benign	Het
Unc119	T	C	11: 78,239,449 (GRCm39)	S235P	probably damaging	Het
Vav1	A	C	17: 57,609,266 (GRCm39)	D394A	probably benign	Het
Vezf1	T	A	11: 87,972,410 (GRCm39)	I439K	possibly damaging	Het
Zfp335	A	T	2: 164,752,741 (GRCm39)	M1K	probably null	Het
Zfp715	T	C	7: 42,960,562 (GRCm39)	T10A	possibly damaging	Het
Zmynd11	C	T	13: 9,740,445 (GRCm39)	E382K	possibly damaging	Het

Other mutations in Kcna5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02379:Kcna5	APN	6	126,511,472 (GRCm39)	missense	probably damaging	1.00
H8562:Kcna5	UTSW	6	126,510,386 (GRCm39)	missense	probably damaging	0.98
R0137:Kcna5	UTSW	6	126,510,346 (GRCm39)	missense	probably damaging	1.00
R0881:Kcna5	UTSW	6	126,511,957 (GRCm39)	missense	probably benign
R1436:Kcna5	UTSW	6	126,511,724 (GRCm39)	missense	probably damaging	0.99
R1561:Kcna5	UTSW	6	126,511,546 (GRCm39)	missense	probably damaging	1.00
R1730:Kcna5	UTSW	6	126,510,823 (GRCm39)	missense	probably damaging	1.00
R1783:Kcna5	UTSW	6	126,510,823 (GRCm39)	missense	probably damaging	1.00
R3940:Kcna5	UTSW	6	126,510,614 (GRCm39)	missense	probably damaging	1.00
R4276:Kcna5	UTSW	6	126,510,329 (GRCm39)	missense	probably damaging	1.00
R4372:Kcna5	UTSW	6	126,510,320 (GRCm39)	makesense	probably null
R4562:Kcna5	UTSW	6	126,511,303 (GRCm39)	missense	probably benign	0.00
R5130:Kcna5	UTSW	6	126,511,496 (GRCm39)	missense	probably benign	0.01
R5137:Kcna5	UTSW	6	126,510,946 (GRCm39)	missense	probably damaging	1.00
R5388:Kcna5	UTSW	6	126,511,859 (GRCm39)	missense	probably benign	0.04
R5890:Kcna5	UTSW	6	126,511,699 (GRCm39)	missense	probably damaging	1.00
R7159:Kcna5	UTSW	6	126,510,592 (GRCm39)	missense	probably damaging	1.00
R7162:Kcna5	UTSW	6	126,510,806 (GRCm39)	missense	possibly damaging	0.87
R7353:Kcna5	UTSW	6	126,511,808 (GRCm39)	missense	probably benign	0.00
R7695:Kcna5	UTSW	6	126,511,174 (GRCm39)	missense	probably damaging	1.00
R7775:Kcna5	UTSW	6	126,511,768 (GRCm39)	nonsense	probably null
R7778:Kcna5	UTSW	6	126,511,768 (GRCm39)	nonsense	probably null
R7894:Kcna5	UTSW	6	126,512,011 (GRCm39)	missense	probably damaging	0.96
R7905:Kcna5	UTSW	6	126,511,831 (GRCm39)	missense	probably benign
R7961:Kcna5	UTSW	6	126,510,517 (GRCm39)	missense	probably benign
R8009:Kcna5	UTSW	6	126,510,517 (GRCm39)	missense	probably benign
R8388:Kcna5	UTSW	6	126,511,588 (GRCm39)	missense	probably benign	0.08
R9725:Kcna5	UTSW	6	126,511,844 (GRCm39)	missense	probably benign
Z1176:Kcna5	UTSW	6	126,510,679 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcna5	UTSW	6	126,510,953 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTGTCTCCCGATGATAGAAG -3'
(R):5'- ATGTCCCTAGCCATCCTCAG -3'

Sequencing Primer
(F):5'- GTAATTAAAATTGGAGACGATGACGG -3'
(R):5'- TAGCCATCCTCAGGGTGATC -3'

Posted On

2019-06-26