Mutagenetix > Incidental Mutation

Incidental Mutation 'R3796:Kcna2'

272755

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

040757-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3796 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107101146-107115005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107105590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 496 (L496I)

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: L496I

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041702
Gene: ENSMUSG00000040724
AA Change: L496I

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: L496I

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142873
Gene: ENSMUSG00000040724
AA Change: L496I

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: L496I

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143798
Gene: ENSMUSG00000040724
AA Change: L496I

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

Meta Mutation Damage Score

0.0816

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (40/40)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	G	19: 45,921,610		probably benign	Het
Adamts17	A	G	7: 66,839,914		probably null	Het
Alpk3	C	A	7: 81,092,753	P773T	probably benign	Het
Alppl2	A	G	1: 87,088,354		probably null	Het
Basp1	C	A	15: 25,364,312		probably benign	Het
Clec14a	G	A	12: 58,267,909	A309V	probably benign	Het
Clk2	A	G	3: 89,175,689	N424S	probably benign	Het
Cops7a	C	T	6: 124,959,832	R252H	probably damaging	Het
Csmd2	C	T	4: 128,517,595	P2469S	probably benign	Het
Cwf19l1	A	G	19: 44,114,567	V403A	probably damaging	Het
Dnajc16	G	T	4: 141,767,737	D521E	probably benign	Het
Dnm2	T	C	9: 21,505,487	V772A	probably benign	Het
Dst	G	T	1: 34,181,915	V2267F	probably benign	Het
Eif3d	A	G	15: 77,968,569	F4S	probably damaging	Het
Fgfr1	G	A	8: 25,572,437	D663N	probably damaging	Het
Hmcn1	A	G	1: 150,586,418	Y5170H	probably damaging	Het
Krt8	T	C	15: 101,999,442	I233V	probably benign	Het
Mfap1b	A	G	2: 121,473,905	V3A	probably benign	Het
Phrf1	C	T	7: 141,259,918	R243*	probably null	Het
Plbd2	A	T	5: 120,492,868	I224N	probably damaging	Het
Rab19	T	C	6: 39,384,041	V41A	probably benign	Het
Rrm1	T	A	7: 102,465,703		probably null	Het
Sacs	T	C	14: 61,206,121	V1872A	possibly damaging	Het
Setd2	T	C	9: 110,549,571	V818A	probably benign	Het
Shprh	C	T	10: 11,178,757	L1037F	possibly damaging	Het
Slc24a3	A	G	2: 145,616,681	D527G	probably damaging	Het
Slc27a6	T	C	18: 58,598,751		probably benign	Het
Slc35g3	A	G	11: 69,760,917	F103L	probably benign	Het
Slc5a1	A	G	5: 33,152,652	D408G	probably damaging	Het
Spag6l	A	T	16: 16,763,052	I477N	probably damaging	Het
Srgap1	A	G	10: 122,047,132	V21A	probably benign	Het
Trim7	A	G	11: 48,845,670		probably null	Het
Trpa1	T	C	1: 14,893,264	N578S	possibly damaging	Het
Xdh	T	C	17: 73,907,658	E764G	probably damaging	Het
Zfp518a	G	T	19: 40,915,310	V1228F	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
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
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'- AAGCTGTCCAAAGATCCCGTC -3'
(R):5'- AACCTGTAAGTCGGTGATGAAG -3'

Sequencing Primer
(F):5'- CGTCCTCCCCTGACCTAAAG -3'
(R):5'- ACCTGTAAGTCGGTGATGAAGATTTC -3'

Posted On

2015-03-25