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

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

107008462-107022321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107012476 bp (GRCm39)

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
Aatf	T	C	11: 84,336,502 (GRCm39)	K466E	probably damaging	Het
Abcc3	T	C	11: 94,245,900 (GRCm39)	D1245G	probably damaging	Het
Adam12	T	C	7: 133,576,145 (GRCm39)		probably null	Het
Akap11	A	G	14: 78,748,193 (GRCm39)	V1398A	probably benign	Het
Ank1	T	G	8: 23,586,828 (GRCm39)	L461R	probably damaging	Het
Ankfn1	T	C	11: 89,332,792 (GRCm39)	S402G	possibly damaging	Het
Arhgef40	A	C	14: 52,234,431 (GRCm39)	E911D	probably damaging	Het
Atp2b1	C	T	10: 98,815,676 (GRCm39)	Q107*	probably null	Het
Cacng3	T	A	7: 122,271,008 (GRCm39)	C4*	probably null	Het
Cds1	G	A	5: 101,962,299 (GRCm39)	V305M	probably damaging	Het
Cecr2	T	G	6: 120,738,758 (GRCm39)	F1162V	probably damaging	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Chrm5	A	G	2: 112,311,065 (GRCm39)	V17A	probably benign	Het
Col20a1	T	C	2: 180,642,231 (GRCm39)	I714T	probably damaging	Het
Cpeb2	T	A	5: 43,419,119 (GRCm39)	M156K	possibly damaging	Het
Cstdc6	T	C	16: 36,143,386 (GRCm39)		probably null	Het
Defb25	C	A	2: 152,464,332 (GRCm39)	V71L	probably benign	Het
Dhx35	A	T	2: 158,671,543 (GRCm39)	M325L	probably benign	Het
Dhx57	A	T	17: 80,558,902 (GRCm39)	L1019H	probably damaging	Het
Dnah6	T	A	6: 73,046,403 (GRCm39)	D3195V	probably damaging	Het
Dph5	A	G	3: 115,722,352 (GRCm39)	S277G	probably benign	Het
Dpm1	C	A	2: 168,065,075 (GRCm39)		probably null	Het
Dsg1a	A	T	18: 20,473,995 (GRCm39)	M1023L	probably benign	Het
Egf	A	G	3: 129,499,882 (GRCm39)	Y252H	probably benign	Het
Egf	A	G	3: 129,531,198 (GRCm39)	S126P	probably damaging	Het
Enam	T	C	5: 88,640,886 (GRCm39)	W183R	possibly damaging	Het
Foxn1	T	C	11: 78,251,866 (GRCm39)	Y455C	probably damaging	Het
Iars1	A	T	13: 49,879,678 (GRCm39)	D983V	possibly damaging	Het
Ikzf4	C	A	10: 128,470,545 (GRCm39)	G325V	probably damaging	Het
Il1rl1	T	A	1: 40,480,463 (GRCm39)	W31R	possibly damaging	Het
Ip6k3	C	T	17: 27,363,999 (GRCm39)	D350N	probably damaging	Het
Irgc	T	C	7: 24,131,431 (GRCm39)	D462G	probably benign	Het
Itprid1	T	C	6: 55,874,941 (GRCm39)	L297P	probably benign	Het
Jph3	A	G	8: 122,511,572 (GRCm39)	E520G	probably benign	Het
Klk4	T	A	7: 43,534,785 (GRCm39)	I248N	probably damaging	Het
Krtap16-1	T	C	11: 99,876,123 (GRCm39)	Y427C	probably damaging	Het
Lgr4	A	G	2: 109,801,035 (GRCm39)		probably null	Het
Lhpp	C	T	7: 132,212,406 (GRCm39)		probably benign	Het
Lypd3	T	A	7: 24,339,656 (GRCm39)	V241D	probably damaging	Het
Lyz2	T	A	10: 117,116,678 (GRCm39)	N57Y	possibly damaging	Het
Man1a	A	G	10: 53,950,594 (GRCm39)	V176A	probably damaging	Het
Mcm4	G	A	16: 15,447,503 (GRCm39)	T487I	probably benign	Het
Mettl21c	T	A	1: 44,052,814 (GRCm39)	I68F	probably damaging	Het
Miip	T	A	4: 147,946,720 (GRCm39)	T313S	probably damaging	Het
Minar2	A	G	18: 59,195,531 (GRCm39)		probably null	Het
Mog	A	T	17: 37,323,311 (GRCm39)	I209K	probably damaging	Het
Myo1c	C	A	11: 75,563,008 (GRCm39)	D997E	probably benign	Het
Npc1	T	C	18: 12,352,261 (GRCm39)	Y146C	probably damaging	Het
Nploc4	A	G	11: 120,304,507 (GRCm39)	L238P	probably damaging	Het
Opa1	A	G	16: 29,432,947 (GRCm39)	N544S	probably benign	Het
Or2j6	T	C	7: 139,980,788 (GRCm39)	Y57C	probably damaging	Het
Or2v1	T	A	11: 49,025,874 (GRCm39)	M285K	probably damaging	Het
Or6k6	T	C	1: 173,945,078 (GRCm39)	H168R	probably benign	Het
Pam	C	T	1: 97,822,126 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,324,438 (GRCm39)	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,936,459 (GRCm39)	R590H	probably damaging	Het
Plxdc1	T	C	11: 97,824,838 (GRCm39)	Y339C	probably damaging	Het
Plxna1	T	C	6: 89,300,575 (GRCm39)	N1583S	probably damaging	Het
Plxna4	C	T	6: 32,174,023 (GRCm39)	V1191M	probably damaging	Het
Polk	T	A	13: 96,633,330 (GRCm39)	N238Y	probably benign	Het
Ptprq	T	C	10: 107,521,018 (GRCm39)	N718S	probably benign	Het
Rsrc1	A	T	3: 67,088,194 (GRCm39)	H176L	probably damaging	Het
Sbno1	T	C	5: 124,522,604 (GRCm39)	D1072G	probably damaging	Het
Scmh1	A	G	4: 120,341,028 (GRCm39)	K238R	probably damaging	Het
Senp7	A	G	16: 55,944,236 (GRCm39)	T187A	possibly damaging	Het
Slc12a4	T	C	8: 106,678,249 (GRCm39)	R315G	probably benign	Het
Slc16a10	A	G	10: 39,916,612 (GRCm39)	V430A	probably benign	Het
Slc26a7	T	C	4: 14,621,317 (GRCm39)	D23G	probably benign	Het
Slc28a2b	T	A	2: 122,357,928 (GRCm39)	*661R	probably null	Het
Slc7a7	A	G	14: 54,615,259 (GRCm39)	L246P	probably damaging	Het
Spata7	T	A	12: 98,629,428 (GRCm39)	S332T	probably benign	Het
Spsb1	A	G	4: 149,982,673 (GRCm39)	*274R	probably null	Het
Sspo	T	G	6: 48,463,349 (GRCm39)	V3767G	probably null	Het
Syt10	C	A	15: 89,711,144 (GRCm39)	A130S	probably benign	Het
Tgm6	T	A	2: 129,994,865 (GRCm39)		probably null	Het
Them7	A	C	2: 105,128,262 (GRCm39)	N81T	probably damaging	Het
Tinag	C	A	9: 76,859,217 (GRCm39)	A464S	probably damaging	Het
Tmem217	T	G	17: 29,745,284 (GRCm39)	I149L	probably benign	Het
Trp53rkb	T	G	2: 166,637,603 (GRCm39)	D186E	probably damaging	Het
Vmn1r20	T	C	6: 57,409,084 (GRCm39)	Y137H	probably damaging	Het
Vmn1r60	T	A	7: 5,547,379 (GRCm39)	L240F	probably benign	Het
Vmn1r64	A	G	7: 5,886,817 (GRCm39)	M242T	probably benign	Het
Xkr4	T	C	1: 3,740,886 (GRCm39)	N229S	probably benign	Het
Zcchc2	T	A	1: 105,931,853 (GRCm39)	L352M	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp638	T	C	6: 83,944,336 (GRCm39)	L1018P	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
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
R7216:Kcna2	UTSW	3	107,012,109 (GRCm39)	missense	probably damaging	0.99
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'- GGTGACCTTCCACACCTATTCCAAC -3'
(R):5'- ACACTATGACAGGGACTGGTAAGGC -3'

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

Posted On

2013-04-16