Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Kcna2'

388526

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

042659-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5069 (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 107104637 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 178 (V178D)

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: V178D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041702
Gene: ENSMUSG00000040724
AA Change: V178D

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: V178D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142873
Gene: ENSMUSG00000040724
AA Change: V178D

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: V178D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143798
Gene: ENSMUSG00000040724
AA Change: V178D

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: 98.5%
10x: 96.7%
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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
9330182L06Rik	T	A	5: 9,440,897	C636S	probably damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
Adcy7	T	C	8: 88,327,697	L1060P	probably damaging	Het
Aff3	A	G	1: 38,181,613		probably null	Het
Ankar	T	C	1: 72,680,210		probably null	Het
Ankrd27	A	T	7: 35,628,435	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,075,206	T90A	probably damaging	Het
Armc9	A	T	1: 86,257,237	H670L	probably benign	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Ass1	C	T	2: 31,510,173	T301M	probably damaging	Het
Baiap3	A	T	17: 25,249,108	C283S	probably damaging	Het
BC055324	T	C	1: 163,987,674	T93A	possibly damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,711,092	L354P	probably damaging	Het
Cdh3	A	G	8: 106,536,826	N126S	probably benign	Het
Cfap54	A	C	10: 92,937,774	F135L	probably benign	Het
Dlg1	G	T	16: 31,684,295		probably null	Het
Dnah3	T	C	7: 120,032,790	H1314R	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm1043	T	G	5: 37,187,236	L231R	probably damaging	Het
Gm13178	T	A	4: 144,703,867	D184V	probably damaging	Het
Gm14085	A	T	2: 122,494,373	N142I	possibly damaging	Het
Gm14685	T	C	X: 73,127,971	I323T	probably damaging	Het
Gpr153	T	A	4: 152,279,883	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,354,647	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,676,727		probably null	Het
Kat6a	G	A	8: 22,903,133	C209Y	probably damaging	Het
Krt75	A	G	15: 101,566,238		probably null	Het
Letm2	G	A	8: 25,593,964	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002	E646G	probably damaging	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Muc6	A	G	7: 141,651,299	C218R	probably damaging	Het
Myof	A	T	19: 37,905,325	I1130N	possibly damaging	Het
Neil3	A	G	8: 53,601,041	S318P	possibly damaging	Het
Nhlh1	A	G	1: 172,053,900	V133A	probably benign	Het
Nup153	A	C	13: 46,709,792	S331A	probably benign	Het
Nup98	T	C	7: 102,145,655	T882A	probably benign	Het
Olfr1413	T	A	1: 92,573,413	S81T	probably damaging	Het
Olfr599	A	T	7: 103,338,022		probably null	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Olfr749	C	A	14: 50,737,074	L29F	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pald1	A	T	10: 61,341,246	M675K	possibly damaging	Het
Pex5	A	G	6: 124,413,596	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,111,140	A897V	probably benign	Het
Plxnd1	A	T	6: 115,965,901	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,736,735		probably null	Het
Ppfia1	G	A	7: 144,514,473	Q446*	probably null	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Rhbdl2	T	A	4: 123,817,917	L149*	probably null	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rtel1	G	A	2: 181,355,492	V1042M	probably benign	Het
Sidt2	A	T	9: 45,939,461		probably null	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc4a10	G	A	2: 62,267,571	R508H	probably benign	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Slf2	T	A	19: 44,935,253	S169T	possibly damaging	Het
Snx33	A	T	9: 56,926,191	I198N	probably damaging	Het
Spock3	A	G	8: 63,355,265	T396A	probably benign	Het
Sva	A	T	6: 42,038,417		probably benign	Het
Syt7	A	G	19: 10,439,237	N261S	probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Thoc2	C	T	X: 41,806,693	E1491K	probably damaging	Het
Tlr1	T	C	5: 64,926,400	Y278C	probably benign	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Trpm4	T	G	7: 45,310,469	Y667S	probably damaging	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,940,089	H709R	probably damaging	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wars2	A	G	3: 99,187,533	H48R	probably damaging	Het
Xlr4c	T	A	X: 73,238,684	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	probably null	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
R5054:Kcna2	UTSW	3	107104340	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'- AGCAATGGAGATGTTTCGGG -3'
(R):5'- GTTCATGATGTTGGTGAAGAAGCC -3'

Sequencing Primer
(F):5'- TTTCGGGAGGATGAAGGCTACATC -3'
(R):5'- TGGTGAAGAAGCCAGCTTTGC -3'

Posted On

2016-06-06