Mutagenetix > Incidental Mutation

Incidental Mutation 'R0463:Kcna2'

41461

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

038663-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0463 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107101146-107115005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107105160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 352 (D352E)

Ref Sequence

ENSEMBL: ENSMUSP00000143798 (fasta)

Gene Model

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

AlphaFold

P63141

Predicted Effect

probably benign
Transcript: ENSMUST00000038695
AA Change: D352E

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

SMART Domains

Protein: ENSMUSP00000041702
Gene: ENSMUSG00000040724
AA Change: D352E

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 benign
Transcript: ENSMUST00000196403
AA Change: D352E

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

SMART Domains

Protein: ENSMUSP00000142873
Gene: ENSMUSG00000040724
AA Change: D352E

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 benign
Transcript: ENSMUST00000197470
AA Change: D352E

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

SMART Domains

Protein: ENSMUSP00000143798
Gene: ENSMUSG00000040724
AA Change: D352E

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

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 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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,737,060		probably benign	Het
Abcd2	C	T	15: 91,159,124	M620I	probably benign	Het
Ada	T	A	2: 163,730,351	I243F	probably benign	Het
Adam12	T	C	7: 133,974,416		probably null	Het
Adarb2	A	T	13: 8,203,188		probably benign	Het
Adk	A	C	14: 21,423,536	Q287P	probably benign	Het
Ahnak	A	G	19: 9,009,407		probably benign	Het
Aoc3	C	T	11: 101,331,606	R223W	probably damaging	Het
Aqp11	T	C	7: 97,729,021	D229G	probably benign	Het
Arhgap28	A	G	17: 67,896,225	S78P	probably damaging	Het
Bfsp2	T	A	9: 103,426,655	E383D	possibly damaging	Het
Bmpr1b	A	T	3: 141,857,430	V251D	possibly damaging	Het
Calhm1	C	T	19: 47,143,841	V112I	probably benign	Het
Catsperd	A	G	17: 56,659,554	D508G	probably damaging	Het
Cfap54	A	G	10: 92,874,943		probably null	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Chga	A	T	12: 102,562,951	R396*	probably null	Het
Cntnap3	T	C	13: 64,778,876	E560G	probably damaging	Het
Csmd1	T	C	8: 15,921,759	T3024A	probably damaging	Het
Csrnp1	CCCTCCTCCTCCTCCTCCTC	CCCTCCTCCTCCTCCTC	9: 119,972,775		probably benign	Het
Cysltr1	A	G	X: 106,578,655	V75A	possibly damaging	Het
Dnah2	A	T	11: 69,423,126	M4140K	probably damaging	Het
Dph5	A	G	3: 115,928,703	S277G	probably benign	Het
Eftud2	A	T	11: 102,864,771	D203E	probably damaging	Het
Egf	A	G	3: 129,737,549	S126P	probably damaging	Het
Egf	A	G	3: 129,706,233	Y252H	probably benign	Het
Faf1	C	T	4: 109,890,941	A481V	probably benign	Het
Fat2	A	T	11: 55,262,829	V3519D	probably damaging	Het
Fbln7	C	A	2: 128,877,511	A76E	probably benign	Het
Galnt1	A	T	18: 24,254,525	K49N	probably benign	Het
Glb1	ACCC	ACC	9: 114,421,744		probably null	Het
Grk1	T	C	8: 13,409,279	Y277H	probably damaging	Het
Hap1	A	G	11: 100,349,305	L555P	probably damaging	Het
Ier3	T	C	17: 35,822,108	I94T	possibly damaging	Het
Il11	T	C	7: 4,776,024	T36A	probably damaging	Het
Il5ra	A	T	6: 106,731,890	D296E	probably damaging	Het
Itk	A	T	11: 46,331,989	V551E	probably damaging	Het
Kif5a	A	T	10: 127,235,652	S776T	probably benign	Het
Klrb1c	T	C	6: 128,780,403	E233G	probably benign	Het
Kpna7	T	C	5: 145,007,994	K12R	possibly damaging	Het
Lhpp	C	T	7: 132,610,677		probably benign	Het
Lhx8	A	T	3: 154,328,171		probably null	Het
Lrrc6	T	A	15: 66,380,474	M448L	probably benign	Het
Magel2	T	A	7: 62,378,030	H227Q	possibly damaging	Het
Man1a	A	G	10: 54,074,498	V176A	probably damaging	Het
Mapkbp1	T	A	2: 120,023,151	M1152K	probably benign	Het
Mcoln3	T	A	3: 146,140,576	L547*	probably null	Het
Myof	T	C	19: 37,916,504	D1624G	probably damaging	Het
Myom2	T	C	8: 15,104,123	V687A	probably benign	Het
Nav1	C	A	1: 135,452,207	V1586F	possibly damaging	Het
Ndufb8	T	C	19: 44,550,345	E179G	possibly damaging	Het
Nfam1	T	C	15: 83,001,483	T223A	probably damaging	Het
Nrcam	T	A	12: 44,551,341	V371E	probably damaging	Het
Nup210l	A	G	3: 90,180,211	Q1097R	probably null	Het
Obox5	T	A	7: 15,757,646	M37K	probably damaging	Het
Obscn	A	T	11: 59,061,530	N4270K	probably benign	Het
Olfr1008	T	C	2: 85,689,839	S137P	possibly damaging	Het
Olfr463	G	A	11: 87,893,196	H243Y	probably damaging	Het
Olfr802	A	G	10: 129,681,839	M300T	probably benign	Het
Olfr893	G	A	9: 38,209,064	A2T	probably benign	Het
Olfr995	T	A	2: 85,438,286	S291C	probably damaging	Het
Patj	G	A	4: 98,674,308	E1505K	probably damaging	Het
Pnliprp1	T	A	19: 58,738,196	Y328*	probably null	Het
Ppp1r36	G	A	12: 76,418,967	E43K	probably damaging	Het
Ptch1	C	T	13: 63,520,307	V939I	probably damaging	Het
Rgs22	C	A	15: 36,092,938	K396N	probably damaging	Het
Rsrc1	A	T	3: 67,180,861	H176L	probably damaging	Het
Ryr3	A	T	2: 112,661,701	F3743L	probably damaging	Het
Scn7a	C	T	2: 66,675,740	G1602R	probably benign	Het
Sftpc	A	T	14: 70,522,670	V49E	probably damaging	Het
Slc16a10	A	G	10: 40,040,616	V430A	probably benign	Het
Slco4c1	A	C	1: 96,867,920	S138A	possibly damaging	Het
Snd1	T	C	6: 28,724,956	I501T	probably benign	Het
Stxbp2	T	A	8: 3,632,559	D49E	probably damaging	Het
Sytl4	A	T	X: 133,962,187	D16E	probably benign	Het
Tbc1d9b	G	A	11: 50,145,067	G130E	probably benign	Het
Tdrd6	T	A	17: 43,625,561	D1532V	probably damaging	Het
Tekt1	T	C	11: 72,351,952	D243G	probably damaging	Het
Tet2	A	G	3: 133,486,666	L669S	possibly damaging	Het
Tnnt3	A	G	7: 142,512,335	N201S	probably benign	Het
Trdn	A	G	10: 33,466,421		probably null	Het
Trim36	T	C	18: 46,178,456	E259G	possibly damaging	Het
Trpm1	C	T	7: 64,220,254	P436S	probably benign	Het
Vmn1r183	T	A	7: 24,055,501	L243Q	probably damaging	Het
Vps13b	T	C	15: 35,597,409	S1032P	probably damaging	Het
Vps37d	T	C	5: 135,076,541	E76G	probably damaging	Het
Vps72	A	G	3: 95,121,304	H202R	probably benign	Het
Wdr75	T	C	1: 45,819,602	S644P	probably damaging	Het
Wrn	T	A	8: 33,280,815	E697V	possibly damaging	Het
Xirp2	A	G	2: 67,514,918	D2501G	probably benign	Het
Zfp472	T	C	17: 32,975,962	W24R	probably damaging	Het
Zmym6	T	C	4: 127,122,772	V782A	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
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
R5054:Kcna2	UTSW	3	107104340	missense	probably damaging	1.00
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'- GGTGACCTTCCACACCTATTCCAAC -3'
(R):5'- ACACTATGACAGGGACTGGTAAGGC -3'

Sequencing Primer
(F):5'- AGAGACTCTCTGCATCATCTGG -3'
(R):5'- GGCAATGGTTAACACACCTG -3'

Posted On

2013-05-23