Mutagenetix > Incidental Mutation

Incidental Mutation 'R7216:Kcna2'

561441

Institutional Source

Beutler Lab

Gene Symbol

Kcna2

Ensembl Gene

ENSMUSG00000040724

Gene Name

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

Synonyms

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

MMRRC Submission

045288-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7216 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107008462-107022321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107012109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 230 (I230N)

Ref Sequence

ENSEMBL: ENSMUSP00000041702 (fasta)

Gene Model

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

AlphaFold

P63141

Predicted Effect

probably damaging
Transcript: ENSMUST00000038695
AA Change: I230N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041702
Gene: ENSMUSG00000040724
AA Change: I230N

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: I230N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142873
Gene: ENSMUSG00000040724
AA Change: I230N

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: I230N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143798
Gene: ENSMUSG00000040724
AA Change: I230N

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: 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 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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,187,240 (GRCm39)	N1551K	probably benign	Het
Amy2a1	T	C	3: 113,324,090 (GRCm39)	D150G	possibly damaging	Het
Atp2b1	T	A	10: 98,822,839 (GRCm39)	C165S	probably benign	Het
Atp2c1	A	T	9: 105,344,930 (GRCm39)	D102E	probably benign	Het
Capn8	C	A	1: 182,426,363 (GRCm39)	R233S	possibly damaging	Het
Cd48	T	C	1: 171,523,390 (GRCm39)	S78P	probably damaging	Het
Clasp1	T	A	1: 118,475,648 (GRCm39)	D944E	probably benign	Het
Clip2	A	G	5: 134,531,771 (GRCm39)	M678T	probably benign	Het
Clmp	T	C	9: 40,672,205 (GRCm39)	Y12H	possibly damaging	Het
Col22a1	A	T	15: 71,845,694 (GRCm39)	V356D	probably damaging	Het
Copg2	A	T	6: 30,862,535 (GRCm39)	D101E	probably damaging	Het
Cpsf6	G	A	10: 117,197,928 (GRCm39)	P229S	unknown	Het
Dgke	T	C	11: 88,941,163 (GRCm39)	D340G	probably benign	Het
Dlg1	TAAA	TAA	16: 31,615,736 (GRCm39)		probably null	Het
Dlg5	G	A	14: 24,186,706 (GRCm39)	Q1865*	probably null	Het
Dnajc2	C	T	5: 21,981,777 (GRCm39)	R123Q	probably damaging	Het
Efcab3	A	T	11: 104,771,375 (GRCm39)	K2633N	possibly damaging	Het
Egln2	T	C	7: 26,859,254 (GRCm39)	D365G	probably damaging	Het
Epha4	T	C	1: 77,421,621 (GRCm39)	D287G	probably damaging	Het
Fat4	A	G	3: 38,945,192 (GRCm39)	T1362A	probably damaging	Het
Flt4	A	G	11: 49,525,508 (GRCm39)	T685A	possibly damaging	Het
Fras1	T	C	5: 96,887,173 (GRCm39)	Y2652H	probably damaging	Het
Gas2	A	G	7: 51,547,005 (GRCm39)	E52G	possibly damaging	Het
Gm5093	A	T	17: 46,751,014 (GRCm39)	D4E	not run	Het
Gm6370	A	T	5: 146,430,723 (GRCm39)	T303S	probably benign	Het
Gpr161	A	G	1: 165,134,115 (GRCm39)	I126V	probably benign	Het
Gpr63	T	C	4: 25,008,038 (GRCm39)	L254P	probably damaging	Het
H2-M9	C	T	17: 36,951,594 (GRCm39)	V294I	probably benign	Het
Insr	T	A	8: 3,253,034 (GRCm39)	N375I	possibly damaging	Het
Ints1	T	C	5: 139,754,739 (GRCm39)	N600S	possibly damaging	Het
Ints10	A	G	8: 69,274,809 (GRCm39)	N628S	probably damaging	Het
Irf2	A	G	8: 47,246,591 (GRCm39)	T20A	probably benign	Het
Irs1	T	A	1: 82,267,476 (GRCm39)	T247S	probably damaging	Het
Islr	C	T	9: 58,064,250 (GRCm39)	S419N	unknown	Het
Kif3c	C	A	12: 3,416,126 (GRCm39)	A49E	probably benign	Het
Kifap3	A	T	1: 163,623,558 (GRCm39)	K108N	probably damaging	Het
Lama3	T	A	18: 12,563,057 (GRCm39)	F527I	probably damaging	Het
Layn	A	G	9: 50,988,352 (GRCm39)		probably benign	Het
Lims2	G	T	18: 32,090,315 (GRCm39)	W276L	probably damaging	Het
Lsp1	T	C	7: 142,042,179 (GRCm39)	L133S	probably damaging	Het
Map3k6	T	G	4: 132,974,211 (GRCm39)	V536G	probably damaging	Het
Med7	T	A	11: 46,331,681 (GRCm39)	L92H	probably damaging	Het
Mllt1	A	G	17: 57,234,042 (GRCm39)	V48A	probably damaging	Het
Mtcl2	T	C	2: 156,860,290 (GRCm39)	R1650G	possibly damaging	Het
Neurl4	T	A	11: 69,801,088 (GRCm39)	V1153E	probably damaging	Het
Nkx2-1	A	C	12: 56,581,587 (GRCm39)	C87G	probably damaging	Het
Nsun7	T	C	5: 66,436,000 (GRCm39)	S291P	probably damaging	Het
Or10n1	A	T	9: 39,525,790 (GRCm39)	Q309L	probably benign	Het
Or13a18	A	T	7: 140,190,373 (GRCm39)	N90I	possibly damaging	Het
Or1p1c	A	T	11: 74,160,550 (GRCm39)	I112F	probably damaging	Het
Or4e1	G	A	14: 52,700,945 (GRCm39)	P174S	probably damaging	Het
Or7g17	T	A	9: 18,768,632 (GRCm39)	M237K	probably benign	Het
Pals1	G	A	12: 78,844,006 (GRCm39)	R70H	probably damaging	Het
Pbrm1	A	G	14: 30,767,379 (GRCm39)	Y331C	possibly damaging	Het
Pirb	T	A	7: 3,719,273 (GRCm39)	T539S	probably benign	Het
Plch2	T	G	4: 155,068,685 (GRCm39)	T1314P	probably benign	Het
Polk	T	C	13: 96,644,728 (GRCm39)	S133G	probably benign	Het
Pramel27	A	G	4: 143,578,399 (GRCm39)	I220V	probably damaging	Het
Prdm5	A	T	6: 65,904,967 (GRCm39)	K533*	probably null	Het
Prmt1	T	A	7: 44,632,997 (GRCm39)	Q35H	probably benign	Het
Pum3	A	T	19: 27,401,625 (GRCm39)	W142R	probably damaging	Het
Rest	G	A	5: 77,430,455 (GRCm39)	R958H	probably benign	Het
Rictor	C	T	15: 6,798,782 (GRCm39)	T343M	probably damaging	Het
Ripor2	G	A	13: 24,855,886 (GRCm39)	G109R	probably damaging	Het
Sec62	C	T	3: 30,872,978 (GRCm39)	Q354*	probably null	Het
Snx14	T	C	9: 88,263,844 (GRCm39)	Y847C	probably damaging	Het
Sox7	A	T	14: 64,185,438 (GRCm39)	D158V	probably benign	Het
Spag8	A	G	4: 43,652,034 (GRCm39)	V350A	possibly damaging	Het
Syngr1	A	T	15: 79,995,934 (GRCm39)	I158F	probably damaging	Het
Tacstd2	C	A	6: 67,511,979 (GRCm39)	V238L	probably benign	Het
Tex15	T	C	8: 34,063,014 (GRCm39)	S815P	possibly damaging	Het
Tmem117	A	T	15: 94,612,793 (GRCm39)	T110S	possibly damaging	Het
Tnrc6a	T	C	7: 122,770,718 (GRCm39)	I836T	probably benign	Het
Trim30b	C	A	7: 104,006,569 (GRCm39)	V96L	probably benign	Het
Tssk3	TGCTATCATGGGG	TG	4: 129,383,106 (GRCm39)		probably null	Het
Tyk2	G	T	9: 21,031,822 (GRCm39)	H418N	probably benign	Het
Uap1	G	T	1: 169,986,472 (GRCm39)	T170K	probably damaging	Het
Vmn1r40	T	C	6: 89,691,606 (GRCm39)	V141A	not run	Het
Vmn1r54	T	A	6: 90,246,647 (GRCm39)	I187K	probably damaging	Het
Vmp1	C	T	11: 86,492,859 (GRCm39)	V317M	probably damaging	Het
Wnt8b	A	G	19: 44,500,511 (GRCm39)	K366R	probably benign	Het
Zfp207	C	T	11: 80,286,004 (GRCm39)	P415L	unknown	Het
Zfp263	A	G	16: 3,562,435 (GRCm39)	E66G	probably damaging	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zfp985	T	A	4: 147,667,913 (GRCm39)	H260Q	probably damaging	Het
Zmiz1	GCC	GC	14: 25,576,624 (GRCm39)		probably null	Het
Zmiz1	A	G	14: 25,576,633 (GRCm39)	R47G	probably damaging	Het
Zmiz1	A	C	14: 25,576,631 (GRCm39)	Q46P	probably damaging	Het

Other mutations in Kcna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Kcna2	APN	3	107,011,946 (GRCm39)	missense	probably damaging	1.00
IGL00711:Kcna2	APN	3	107,012,069 (GRCm39)	missense	probably benign
IGL02380:Kcna2	APN	3	107,012,274 (GRCm39)	missense	probably benign	0.00
grim	UTSW	3	107,012,343 (GRCm39)	missense	probably damaging	1.00
IGL03097:Kcna2	UTSW	3	107,012,715 (GRCm39)	missense	probably benign	0.02
R0117:Kcna2	UTSW	3	107,012,670 (GRCm39)	missense	probably damaging	1.00
R0200:Kcna2	UTSW	3	107,012,476 (GRCm39)	missense	probably benign
R0463:Kcna2	UTSW	3	107,012,476 (GRCm39)	missense	probably benign
R0472:Kcna2	UTSW	3	107,012,832 (GRCm39)	missense	probably benign
R0662:Kcna2	UTSW	3	107,012,717 (GRCm39)	missense	probably benign
R0746:Kcna2	UTSW	3	107,012,484 (GRCm39)	missense	probably benign
R1838:Kcna2	UTSW	3	107,011,828 (GRCm39)	missense	probably benign
R1847:Kcna2	UTSW	3	107,012,429 (GRCm39)	missense	possibly damaging	0.54
R1912:Kcna2	UTSW	3	107,012,717 (GRCm39)	missense	probably benign
R1966:Kcna2	UTSW	3	107,011,946 (GRCm39)	missense	probably damaging	1.00
R1971:Kcna2	UTSW	3	107,012,140 (GRCm39)	missense	probably damaging	1.00
R2419:Kcna2	UTSW	3	107,011,469 (GRCm39)	missense	probably benign	0.21
R3796:Kcna2	UTSW	3	107,012,906 (GRCm39)	missense	probably benign	0.37
R3830:Kcna2	UTSW	3	107,012,112 (GRCm39)	missense	probably benign	0.04
R4273:Kcna2	UTSW	3	107,012,509 (GRCm39)	missense	probably benign	0.00
R4570:Kcna2	UTSW	3	107,012,111 (GRCm39)	missense	probably benign
R4662:Kcna2	UTSW	3	107,012,733 (GRCm39)	missense	probably benign
R4756:Kcna2	UTSW	3	107,012,733 (GRCm39)	missense	probably benign
R5054:Kcna2	UTSW	3	107,011,656 (GRCm39)	missense	probably damaging	1.00
R5069:Kcna2	UTSW	3	107,011,953 (GRCm39)	missense	probably damaging	1.00
R5070:Kcna2	UTSW	3	107,011,953 (GRCm39)	missense	probably damaging	1.00
R5126:Kcna2	UTSW	3	107,011,550 (GRCm39)	missense	probably damaging	1.00
R5146:Kcna2	UTSW	3	107,012,814 (GRCm39)	missense	probably benign	0.00
R5205:Kcna2	UTSW	3	107,004,462 (GRCm39)	unclassified	probably benign
R5472:Kcna2	UTSW	3	107,012,625 (GRCm39)	missense	possibly damaging	0.93
R6687:Kcna2	UTSW	3	107,012,343 (GRCm39)	missense	probably damaging	1.00
R6689:Kcna2	UTSW	3	107,012,343 (GRCm39)	missense	probably damaging	1.00
R7304:Kcna2	UTSW	3	107,012,066 (GRCm39)	missense	probably benign
R7538:Kcna2	UTSW	3	107,011,884 (GRCm39)	missense	probably benign	0.31
R7585:Kcna2	UTSW	3	107,012,658 (GRCm39)	missense	probably damaging	1.00
R7968:Kcna2	UTSW	3	107,012,460 (GRCm39)	missense	possibly damaging	0.79
R8241:Kcna2	UTSW	3	107,012,338 (GRCm39)	missense	probably damaging	1.00
R9223:Kcna2	UTSW	3	107,012,306 (GRCm39)	missense	possibly damaging	0.93
R9441:Kcna2	UTSW	3	107,012,268 (GRCm39)	missense	probably benign
R9449:Kcna2	UTSW	3	107,012,887 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCCATTGTATCTGTGATGGTCATTC -3'
(R):5'- TCTTACCAACCGGATGACACG -3'

Sequencing Primer
(F):5'- GTGATGGTCATTCTGATCTCCATCG -3'
(R):5'- AATGGCCAGTGACATGGCC -3'

Posted On

2019-06-26