Mutagenetix > Incidental Mutation

Incidental Mutation 'R7585:Kcna2'

587028

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

045635-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7585 (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 C at 107012658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 413 (F413S)

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: F413S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041702
Gene: ENSMUSG00000040724
AA Change: F413S

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: F413S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142873
Gene: ENSMUSG00000040724
AA Change: F413S

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: F413S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143798
Gene: ENSMUSG00000040724
AA Change: F413S

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,854,851 (GRCm39)	T64A	probably benign	Het
A930009A15Rik	T	A	10: 115,414,230 (GRCm39)	V52D	unknown	Het
Aadacl2fm2	C	A	3: 59,651,143 (GRCm39)	D88E	possibly damaging	Het
Acacb	A	G	5: 114,384,073 (GRCm39)	I2201V	probably damaging	Het
Aco2	A	C	15: 81,756,685 (GRCm39)		probably benign	Het
Acod1	C	T	14: 103,292,177 (GRCm39)	Q234*	probably null	Het
Actr6	T	C	10: 89,561,658 (GRCm39)	S163G	probably benign	Het
Agmat	T	C	4: 141,477,056 (GRCm39)	V154A	probably benign	Het
Agrn	T	C	4: 156,255,131 (GRCm39)	N1584S	probably benign	Het
Alg6	A	T	4: 99,626,371 (GRCm39)	S60C	probably damaging	Het
Ap5s1	T	C	2: 131,054,482 (GRCm39)	F98L	probably damaging	Het
Atp6v1f	G	A	6: 29,467,927 (GRCm39)	V38I	possibly damaging	Het
B3gnt3	T	C	8: 72,145,972 (GRCm39)	T186A	probably damaging	Het
Brpf1	T	C	6: 113,292,007 (GRCm39)	V351A	possibly damaging	Het
Cacna1g	A	G	11: 94,364,368 (GRCm39)	S26P	probably benign	Het
Camta1	G	A	4: 151,229,287 (GRCm39)	S515L	probably damaging	Het
Ccdc122	C	A	14: 77,329,139 (GRCm39)	A64E	probably damaging	Het
Ccdc89	C	A	7: 90,076,510 (GRCm39)	T240K	possibly damaging	Het
Cercam	T	C	2: 29,771,743 (GRCm39)	L521P	probably damaging	Het
Cfb	T	C	17: 35,076,737 (GRCm39)	N561S	probably benign	Het
Clk3	T	C	9: 57,669,119 (GRCm39)	E159G	probably damaging	Het
Cntf	A	T	19: 12,741,587 (GRCm39)	L91*	probably null	Het
Cntn4	T	A	6: 106,466,572 (GRCm39)	I158N	probably damaging	Het
Cog5	T	A	12: 31,810,888 (GRCm39)	I194K	probably damaging	Het
Col22a1	T	A	15: 71,764,054 (GRCm39)	D66V	probably damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Csmd3	T	C	15: 48,485,471 (GRCm39)	T145A	possibly damaging	Het
D130043K22Rik	A	G	13: 25,069,568 (GRCm39)	I876V	probably benign	Het
Dlec1	T	C	9: 118,971,819 (GRCm39)	S1335P	probably benign	Het
Dnah5	A	T	15: 28,402,014 (GRCm39)	T3392S	probably benign	Het
Dnal1	A	G	12: 84,171,267 (GRCm39)	K21E	probably benign	Het
Dspp	T	C	5: 104,323,391 (GRCm39)	V178A	possibly damaging	Het
Dst	A	G	1: 34,153,096 (GRCm39)	D119G	possibly damaging	Het
Dyrk4	T	A	6: 126,867,007 (GRCm39)	I342F	probably damaging	Het
Eif3b	A	G	5: 140,425,757 (GRCm39)	D649G	probably damaging	Het
Exoc7	T	C	11: 116,191,124 (GRCm39)	D259G	probably benign	Het
Fancm	T	C	12: 65,153,021 (GRCm39)	V1159A	possibly damaging	Het
Fat3	T	C	9: 15,909,558 (GRCm39)	D2148G	probably benign	Het
Fdps	C	A	3: 89,001,113 (GRCm39)	R300L	probably benign	Het
Gfm2	T	C	13: 97,315,540 (GRCm39)	L736P	probably benign	Het
Grin2b	T	A	6: 135,756,301 (GRCm39)	T475S	probably damaging	Het
H2-M3	T	G	17: 37,581,599 (GRCm39)	L87R	probably damaging	Het
Hao1	T	A	2: 134,343,076 (GRCm39)	I272F	probably damaging	Het
Hapln2	C	T	3: 87,929,980 (GRCm39)	G299S	probably damaging	Het
Hdac3	A	T	18: 38,078,408 (GRCm39)	I154N	probably damaging	Het
Herc1	A	G	9: 66,352,829 (GRCm39)	D2105G	probably damaging	Het
Kctd13	A	G	7: 126,528,458 (GRCm39)	T78A	possibly damaging	Het
Kif20a	A	G	18: 34,758,591 (GRCm39)	D20G	probably benign	Het
Kif26b	A	T	1: 178,744,061 (GRCm39)	I1386F	probably benign	Het
Klc4	T	A	17: 46,942,810 (GRCm39)	M585L	probably benign	Het
Lrp4	A	G	2: 91,322,933 (GRCm39)	Y1139C	probably damaging	Het
Lrp5	A	T	19: 3,654,094 (GRCm39)	I1111N	possibly damaging	Het
Lrriq1	A	T	10: 103,050,807 (GRCm39)	D648E	possibly damaging	Het
Mmp2	G	A	8: 93,563,564 (GRCm39)	G346D	probably damaging	Het
Mrgpra4	T	A	7: 47,631,377 (GRCm39)	I75L	probably benign	Het
Muc4	T	A	16: 32,586,076 (GRCm39)	V537D		Het
Myh2	T	A	11: 67,070,237 (GRCm39)		probably null	Het
Myrf	T	C	19: 10,194,091 (GRCm39)	T487A	probably damaging	Het
Nalcn	A	T	14: 123,753,050 (GRCm39)	L312H	probably damaging	Het
Nop14	G	A	5: 34,802,124 (GRCm39)	P560L	probably damaging	Het
Nufip1	C	G	14: 76,348,427 (GRCm39)	P19A	probably benign	Het
Oosp3	G	T	19: 11,678,322 (GRCm39)	M99I	probably benign	Het
Or14c40	T	C	7: 86,313,880 (GRCm39)	*337Q	probably null	Het
Or4c52	A	T	2: 89,845,393 (GRCm39)	I40F	probably damaging	Het
Or4x13	T	A	2: 90,231,367 (GRCm39)	Y121N	probably damaging	Het
Or51aa5	C	A	7: 103,167,166 (GRCm39)	V142L	possibly damaging	Het
Or51k2	A	G	7: 103,596,607 (GRCm39)	N278S	probably benign	Het
Or52n4b	C	A	7: 108,144,598 (GRCm39)	P289T	probably damaging	Het
Or6b2b	A	G	1: 92,419,042 (GRCm39)	V145A	probably benign	Het
Or7e175	T	C	9: 20,040,307 (GRCm39)			Het
Panx2	A	G	15: 88,952,169 (GRCm39)	K212R	probably damaging	Het
Paxip1	A	C	5: 27,977,002 (GRCm39)	H353Q	unknown	Het
Pbx4	C	A	8: 70,285,475 (GRCm39)	D39E	probably damaging	Het
Phc2	G	A	4: 128,604,932 (GRCm39)	A223T	probably benign	Het
Plcl1	A	G	1: 55,445,608 (GRCm39)	D21G	probably benign	Het
Plec	G	A	15: 76,057,632 (GRCm39)	R4102W	probably damaging	Het
Plekhh2	A	G	17: 84,884,608 (GRCm39)	Y774C	probably benign	Het
Polr2a	A	T	11: 69,630,828 (GRCm39)	Y1197N	probably damaging	Het
Psmg4	A	T	13: 34,347,195 (GRCm39)	H46L	probably benign	Het
Ptprk	A	G	10: 28,436,084 (GRCm39)	Y815C	probably damaging	Het
Qrich2	T	C	11: 116,346,547 (GRCm39)	I1426V	probably benign	Het
Rbm43	T	C	2: 51,816,763 (GRCm39)	D68G	probably benign	Het
Rgs6	T	C	12: 83,153,644 (GRCm39)	S360P	probably damaging	Het
Rp1l1	T	G	14: 64,267,588 (GRCm39)	L1058R	probably damaging	Het
Rreb1	A	G	13: 38,077,874 (GRCm39)	S29G	probably benign	Het
Scube1	C	A	15: 83,522,988 (GRCm39)	R284L	possibly damaging	Het
Serpinb9h	G	T	13: 33,588,299 (GRCm39)	D295Y	probably benign	Het
Slc13a3	T	C	2: 165,272,242 (GRCm39)	Q267R	probably benign	Het
Slc49a3	T	C	5: 108,596,685 (GRCm39)	T16A	probably benign	Het
Slc5a1	A	T	5: 33,318,288 (GRCm39)	N647I	probably damaging	Het
Sphk2	A	T	7: 45,361,006 (GRCm39)	S333T	probably benign	Het
Sptan1	A	G	2: 29,890,068 (GRCm39)	D1050G	probably benign	Het
Tdo2	G	T	3: 81,870,065 (GRCm39)	A269E	probably damaging	Het
Tnc	A	T	4: 63,938,648 (GRCm39)	C64S	probably damaging	Het
Trim47	T	A	11: 115,998,383 (GRCm39)	E360D	probably damaging	Het
Trp53i13	T	A	11: 77,399,129 (GRCm39)	T374S	possibly damaging	Het
Try5	A	G	6: 41,288,748 (GRCm39)	L157P	probably benign	Het
Ttn	A	T	2: 76,578,176 (GRCm39)	V24239D	probably damaging	Het
Ttn	T	C	2: 76,773,667 (GRCm39)	Y2318C	unknown	Het
Txn1	T	C	4: 57,945,199 (GRCm39)	D68G	possibly damaging	Het
Upf3a	A	G	8: 13,837,418 (GRCm39)	D121G	probably damaging	Het
Vmn2r114	T	C	17: 23,510,239 (GRCm39)	Y747C	probably damaging	Het
Vmn2r68	A	G	7: 84,881,587 (GRCm39)	W498R	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Zp2	A	T	7: 119,733,167 (GRCm39)	F591L	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
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
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'- AGAGATTCCCAGTTCCCCAG -3'
(R):5'- TGTGTTAGCCAAGGTACAGTTG -3'

Sequencing Primer
(F):5'- TTCCCCAGCATCCCGGATG -3'
(R):5'- CTCTAAAGTCCTCATTGCTGTTG -3'

Posted On

2019-10-24