Mutagenetix > Incidental Mutation

Incidental Mutation 'R0200:Kcna2'

23543

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

038457-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0200 (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: 98.8%
3x: 97.8%
10x: 94.7%
20x: 86.2%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459		probably null	Het
Aatf	T	C	11: 84,445,676	K466E	probably damaging	Het
Abcc3	T	C	11: 94,355,074	D1245G	probably damaging	Het
Adam12	T	C	7: 133,974,416		probably null	Het
Akap11	A	G	14: 78,510,753	V1398A	probably benign	Het
Ank1	T	G	8: 23,096,812	L461R	probably damaging	Het
Ankfn1	T	C	11: 89,441,966	S402G	possibly damaging	Het
Arhgef40	A	C	14: 51,996,974	E911D	probably damaging	Het
Atp2b1	C	T	10: 98,979,814	Q107*	probably null	Het
BC117090	T	C	16: 36,323,024		probably null	Het
Cacng3	T	A	7: 122,671,785	C4*	probably null	Het
Ccdc129	T	C	6: 55,897,956	L297P	probably benign	Het
Cds1	G	A	5: 101,814,433	V305M	probably damaging	Het
Cecr2	T	G	6: 120,761,797	F1162V	probably damaging	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Chrm5	A	G	2: 112,480,720	V17A	probably benign	Het
Col20a1	T	C	2: 181,000,438	I714T	probably damaging	Het
Cpeb2	T	A	5: 43,261,776	M156K	possibly damaging	Het
Defb25	C	A	2: 152,622,412	V71L	probably benign	Het
Dhx35	A	T	2: 158,829,623	M325L	probably benign	Het
Dhx57	A	T	17: 80,251,473	L1019H	probably damaging	Het
Dnah6	T	A	6: 73,069,420	D3195V	probably damaging	Het
Dph5	A	G	3: 115,928,703	S277G	probably benign	Het
Dpm1	C	A	2: 168,223,155		probably null	Het
Dsg1a	A	T	18: 20,340,938	M1023L	probably benign	Het
Egf	A	G	3: 129,737,549	S126P	probably damaging	Het
Egf	A	G	3: 129,706,233	Y252H	probably benign	Het
Enam	T	C	5: 88,493,027	W183R	possibly damaging	Het
Foxn1	T	C	11: 78,361,040	Y455C	probably damaging	Het
Gm14085	T	A	2: 122,527,447	*661R	probably null	Het
Iars	A	T	13: 49,726,202	D983V	possibly damaging	Het
Ikzf4	C	A	10: 128,634,676	G325V	probably damaging	Het
Il1rl1	T	A	1: 40,441,303	W31R	possibly damaging	Het
Ip6k3	C	T	17: 27,145,025	D350N	probably damaging	Het
Irgc1	T	C	7: 24,432,006	D462G	probably benign	Het
Jph3	A	G	8: 121,784,833	E520G	probably benign	Het
Klk4	T	A	7: 43,885,361	I248N	probably damaging	Het
Krtap16-1	T	C	11: 99,985,297	Y427C	probably damaging	Het
Lgr4	A	G	2: 109,970,690		probably null	Het
Lhpp	C	T	7: 132,610,677		probably benign	Het
Lypd3	T	A	7: 24,640,231	V241D	probably damaging	Het
Lyz2	T	A	10: 117,280,773	N57Y	possibly damaging	Het
Man1a	A	G	10: 54,074,498	V176A	probably damaging	Het
Mcm4	G	A	16: 15,629,639	T487I	probably benign	Het
Mettl21c	T	A	1: 44,013,654	I68F	probably damaging	Het
Miip	T	A	4: 147,862,263	T313S	probably damaging	Het
Mog	A	T	17: 37,012,419	I209K	probably damaging	Het
Myo1c	C	A	11: 75,672,182	D997E	probably benign	Het
Npc1	T	C	18: 12,219,204	Y146C	probably damaging	Het
Nploc4	A	G	11: 120,413,681	L238P	probably damaging	Het
Olfr231	T	C	1: 174,117,512	H168R	probably benign	Het
Olfr531	T	C	7: 140,400,875	Y57C	probably damaging	Het
Olfr56	T	A	11: 49,135,047	M285K	probably damaging	Het
Opa1	A	G	16: 29,614,129	N544S	probably benign	Het
Pam	C	T	1: 97,894,401		probably null	Het
Pdgfra	T	C	5: 75,163,777	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733	R590H	probably damaging	Het
Plxdc1	T	C	11: 97,934,012	Y339C	probably damaging	Het
Plxna1	T	C	6: 89,323,593	N1583S	probably damaging	Het
Plxna4	C	T	6: 32,197,088	V1191M	probably damaging	Het
Polk	T	A	13: 96,496,822	N238Y	probably benign	Het
Ptprq	T	C	10: 107,685,157	N718S	probably benign	Het
Rsrc1	A	T	3: 67,180,861	H176L	probably damaging	Het
Sbno1	T	C	5: 124,384,541	D1072G	probably damaging	Het
Scmh1	A	G	4: 120,483,831	K238R	probably damaging	Het
Senp7	A	G	16: 56,123,873	T187A	possibly damaging	Het
Slc12a4	T	C	8: 105,951,617	R315G	probably benign	Het
Slc16a10	A	G	10: 40,040,616	V430A	probably benign	Het
Slc26a7	T	C	4: 14,621,317	D23G	probably benign	Het
Slc7a7	A	G	14: 54,377,802	L246P	probably damaging	Het
Spata7	T	A	12: 98,663,169	S332T	probably benign	Het
Spsb1	A	G	4: 149,898,216	*274R	probably null	Het
Sspo	T	G	6: 48,486,415	V3767G	probably null	Het
Syt10	C	A	15: 89,826,941	A130S	probably benign	Het
Tgm6	T	A	2: 130,152,945		probably null	Het
Them7	A	C	2: 105,297,917	N81T	probably damaging	Het
Tinag	C	A	9: 76,951,935	A464S	probably damaging	Het
Tmem217	T	G	17: 29,526,310	I149L	probably benign	Het
Trp53rkb	T	G	2: 166,795,683	D186E	probably damaging	Het
Vmn1r20	T	C	6: 57,432,099	Y137H	probably damaging	Het
Vmn1r60	T	A	7: 5,544,380	L240F	probably benign	Het
Vmn1r64	A	G	7: 5,883,818	M242T	probably benign	Het
Xkr4	T	C	1: 3,670,663	N229S	probably benign	Het
Zcchc2	T	A	1: 106,004,123	L352M	probably damaging	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp638	T	C	6: 83,967,354	L1018P	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
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
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

2013-04-16