Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Kcna2'

390691

Institutional Source

Beutler Lab

Gene Symbol

Kcna2

Ensembl Gene

ENSMUSG00000040724

Gene Name

potassium voltage-gated channel, shaker-related subfamily, member 2

Synonyms

Mk-2, Akr6a4, Kca1-2, Kv1.2

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107101146-107115005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107104340 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 79 (D79V)

Ref Sequence

ENSEMBL: ENSMUSP00000143798 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038695] [ENSMUST00000196403] [ENSMUST00000197470]

AlphaFold

P63141

Predicted Effect

probably damaging
Transcript: ENSMUST00000038695
AA Change: D79V

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

SMART Domains

Protein: ENSMUSP00000041702
Gene: ENSMUSG00000040724
AA Change: D79V

Domain	Start	End	E-Value	Type
BTB	33	133	1.2e-9	SMART
Pfam:Ion_trans	162	421	6.2e-53	PFAM
Pfam:Ion_trans_2	329	414	4.9e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000196403
AA Change: D79V

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

SMART Domains

Protein: ENSMUSP00000142873
Gene: ENSMUSG00000040724
AA Change: D79V

Domain	Start	End	E-Value	Type
BTB	33	133	1.2e-9	SMART
low complexity region	164	179	N/A	INTRINSIC
Pfam:Ion_trans	224	409	1.3e-36	PFAM
Pfam:Ion_trans_2	329	414	7.9e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000197470
AA Change: D79V

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

SMART Domains

Protein: ENSMUSP00000143798
Gene: ENSMUSG00000040724
AA Change: D79V

Domain	Start	End	E-Value	Type
BTB	33	133	1.2e-9	SMART
Pfam:Ion_trans	162	421	6.2e-53	PFAM
Pfam:Ion_trans_2	329	414	4.9e-16	PFAM

Meta Mutation Damage Score

0.9618

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

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 ion 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, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality, increased susceptibility to spontaneous and chemically-induced seizures and altered neuron electrophysiology. Mice homozygous for an ENU-induced allele exhibit abnormal gait, impaired coordination, and premature lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,689,501	Y257H	probably damaging	Het
Adam28	C	T	14: 68,617,715	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 27,101,720	E627K	probably damaging	Het
Atad5	T	A	11: 80,094,676	S196R	probably benign	Het
Bcam	T	A	7: 19,756,860		probably benign	Het
Birc6	A	G	17: 74,655,325	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,838,212	I190V	probably benign	Het
Ccdc8	T	C	7: 16,995,045	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,841,104	R68G	probably damaging	Het
Dock3	T	C	9: 106,937,906	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,661,159	V271L	possibly damaging	Het
Eif2s2	A	C	2: 154,892,670		probably null	Het
Fndc7	A	G	3: 108,881,347	S193P	probably damaging	Het
Fzr1	G	A	10: 81,371,419		probably benign	Het
Gm17472	T	C	6: 42,981,004	I69T	probably damaging	Het
Gm5039	T	C	12: 88,321,301	I61V	probably benign	Het
Gmppa	C	A	1: 75,439,371	Y137*	probably null	Het
Gpr45	A	G	1: 43,032,649	I151V	probably benign	Het
H1f0	G	A	15: 79,028,773	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,841,856	V114I	probably benign	Het
Impa2	C	A	18: 67,306,727	P98Q	probably damaging	Het
Kazn	T	C	4: 142,108,646	N573D	unknown	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kif13a	A	G	13: 46,802,646	Y561H	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra1	T	A	6: 130,375,284	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,680,042	R318S	probably damaging	Het
Mgat4d	G	A	8: 83,368,208		probably null	Het
Mtor	T	A	4: 148,556,855		probably null	Het
Nostrin	A	T	2: 69,175,713	Q247L	possibly damaging	Het
Obscn	T	C	11: 59,073,617	E3033G	probably damaging	Het
Pam	C	A	1: 97,821,917	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,637,814	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Ptar1	G	T	19: 23,694,365	R44L	probably damaging	Het
Rad51c	T	C	11: 87,397,754	H201R	probably benign	Het
Rims2	A	T	15: 39,517,869		probably null	Het
Rnf219	C	T	14: 104,508,030	G70E	probably damaging	Het
Rpl22l1	T	G	3: 28,806,836	S67A	possibly damaging	Het
Rps10	A	G	17: 27,630,480	S143P	probably damaging	Het
Rundc1	T	C	11: 101,425,141	V13A	probably benign	Het
Sephs2	C	A	7: 127,273,392	M176I	probably benign	Het
Serpina16	C	T	12: 103,674,930	V179I	probably benign	Het
Serpini2	T	A	3: 75,259,477	T158S	probably damaging	Het
Slc12a3	A	G	8: 94,346,351	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,814,602	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,430,917		probably benign	Het
Tbr1	A	T	2: 61,806,002	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,270,082		probably null	Het
Tlr12	T	A	4: 128,617,270	K396*	probably null	Het
Tmppe	A	G	9: 114,405,958	I442V	probably benign	Het
Tubb3	T	C	8: 123,420,868	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,232,731	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,451,446	V482L	possibly damaging	Het
Zfp184	G	T	13: 21,959,282	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,189,793	V270E	probably damaging	Het
Zfp985	A	T	4: 147,582,981	Y102F	probably damaging	Het

Other mutations in Kcna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Kcna2	APN	3	107104630	missense	probably damaging	1.00
IGL00711:Kcna2	APN	3	107104753	missense	probably benign
IGL02380:Kcna2	APN	3	107104958	missense	probably benign	0.00
grim	UTSW	3	107105027	missense	probably damaging	1.00
IGL03097:Kcna2	UTSW	3	107105399	missense	probably benign	0.02
R0117:Kcna2	UTSW	3	107105354	missense	probably damaging	1.00
R0200:Kcna2	UTSW	3	107105160	missense	probably benign
R0463:Kcna2	UTSW	3	107105160	missense	probably benign
R0472:Kcna2	UTSW	3	107105516	missense	probably benign
R0662:Kcna2	UTSW	3	107105401	missense	probably benign
R0746:Kcna2	UTSW	3	107105168	missense	probably benign
R1838:Kcna2	UTSW	3	107104512	missense	probably benign
R1847:Kcna2	UTSW	3	107105113	missense	possibly damaging	0.54
R1912:Kcna2	UTSW	3	107105401	missense	probably benign
R1966:Kcna2	UTSW	3	107104630	missense	probably damaging	1.00
R1971:Kcna2	UTSW	3	107104824	missense	probably damaging	1.00
R2419:Kcna2	UTSW	3	107104153	missense	probably benign	0.21
R3796:Kcna2	UTSW	3	107105590	missense	probably benign	0.37
R3830:Kcna2	UTSW	3	107104796	missense	probably benign	0.04
R4273:Kcna2	UTSW	3	107105193	missense	probably benign	0.00
R4570:Kcna2	UTSW	3	107104795	missense	probably benign
R4662:Kcna2	UTSW	3	107105417	missense	probably benign
R4756:Kcna2	UTSW	3	107105417	missense	probably benign
R5069:Kcna2	UTSW	3	107104637	missense	probably damaging	1.00
R5070:Kcna2	UTSW	3	107104637	missense	probably damaging	1.00
R5126:Kcna2	UTSW	3	107104234	missense	probably damaging	1.00
R5146:Kcna2	UTSW	3	107105498	missense	probably benign	0.00
R5205:Kcna2	UTSW	3	107097146	unclassified	probably benign
R5472:Kcna2	UTSW	3	107105309	missense	possibly damaging	0.93
R6687:Kcna2	UTSW	3	107105027	missense	probably damaging	1.00
R6689:Kcna2	UTSW	3	107105027	missense	probably damaging	1.00
R7216:Kcna2	UTSW	3	107104793	missense	probably damaging	0.99
R7304:Kcna2	UTSW	3	107104750	missense	probably benign
R7538:Kcna2	UTSW	3	107104568	missense	probably benign	0.31
R7585:Kcna2	UTSW	3	107105342	missense	probably damaging	1.00
R7968:Kcna2	UTSW	3	107105144	missense	possibly damaging	0.79
R8241:Kcna2	UTSW	3	107105022	missense	probably damaging	1.00
R9223:Kcna2	UTSW	3	107104990	missense	possibly damaging	0.93
R9441:Kcna2	UTSW	3	107104952	missense	probably benign
R9449:Kcna2	UTSW	3	107105571	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AATTATGACAGTGGCTACCGGAG -3'
(R):5'- AGGACGCTCTTCTTCCTTGATG -3'

Sequencing Primer
(F):5'- TACCGGAGACCCAGTGGAC -3'
(R):5'- ATGTAGCCTTCATCCTCCCGAAAC -3'

Posted On

2016-06-06