Mutagenetix > Incidental Mutation

Incidental Mutation 'R7538:Kcna2'

583695

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

045610-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7538 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107008462-107022321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107011884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 155 (Y155C)

Ref Sequence

ENSEMBL: ENSMUSP00000041702 (fasta)

Gene Model

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

AlphaFold

P63141

Predicted Effect

probably benign
Transcript: ENSMUST00000038695
AA Change: Y155C

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041702
Gene: ENSMUSG00000040724
AA Change: Y155C

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: Y155C

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142873
Gene: ENSMUSG00000040724
AA Change: Y155C

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: Y155C

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143798
Gene: ENSMUSG00000040724
AA Change: Y155C

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: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	C	A	9: 30,864,766 (GRCm39)	P419H	probably damaging	Het
Adgra3	C	T	5: 50,118,792 (GRCm39)	V919I	probably benign	Het
Akap12	G	A	10: 4,303,213 (GRCm39)	V113I	probably damaging	Het
Akr1d1	T	A	6: 37,513,043 (GRCm39)	I113K	probably benign	Het
Alx3	A	T	3: 107,511,680 (GRCm39)	I230F	probably damaging	Het
Apob	A	T	12: 8,052,219 (GRCm39)	D1220V	probably damaging	Het
Ascc3	T	C	10: 50,721,796 (GRCm39)	L2083P	probably damaging	Het
Atp10b	A	G	11: 43,116,373 (GRCm39)	I907V	probably benign	Het
B4galnt3	G	T	6: 120,271,384 (GRCm39)	S46*	probably null	Het
Bfsp1	A	C	2: 143,673,755 (GRCm39)		probably null	Het
Cant1	G	A	11: 118,302,291 (GRCm39)	R9W	possibly damaging	Het
Ccdc88a	A	T	11: 29,413,370 (GRCm39)	H636L	probably benign	Het
Cfi	G	A	3: 129,652,464 (GRCm39)	R297H	probably benign	Het
Cherp	T	A	8: 73,216,263 (GRCm39)	Q749L		Het
Clec10a	A	G	11: 70,060,604 (GRCm39)	D153G	probably benign	Het
Cnga1	T	C	5: 72,769,723 (GRCm39)	K99E	probably benign	Het
Cyp2r1	A	T	7: 114,162,002 (GRCm39)	V64D	probably damaging	Het
Dact3	T	A	7: 16,609,443 (GRCm39)	W32R	probably damaging	Het
Dennd4c	T	C	4: 86,692,753 (GRCm39)	C88R	probably damaging	Het
Dock8	A	T	19: 25,135,782 (GRCm39)	D1200V	probably damaging	Het
Drosha	C	G	15: 12,926,329 (GRCm39)	S1262W	probably damaging	Het
Dtnb	T	C	12: 3,823,611 (GRCm39)	M592T	possibly damaging	Het
Eef2k	T	A	7: 120,491,215 (GRCm39)	V567E	probably benign	Het
Fem1b	A	G	9: 62,718,449 (GRCm39)	S47P	probably damaging	Het
Fryl	T	C	5: 73,180,019 (GRCm39)	E2864G	probably benign	Het
Fscn2	A	G	11: 120,258,152 (GRCm39)	N358S	possibly damaging	Het
Fsip2	T	C	2: 82,818,894 (GRCm39)	S4876P	possibly damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Grhl2	T	C	15: 37,328,603 (GRCm39)	Y410H	probably damaging	Het
Gucy2c	C	T	6: 136,686,742 (GRCm39)	G831D	probably damaging	Het
Hars1	A	T	18: 36,904,194 (GRCm39)	D228E	probably benign	Het
Hdhd5	T	C	6: 120,498,257 (GRCm39)	D114G	possibly damaging	Het
Klc1	A	G	12: 111,751,879 (GRCm39)	K441R	probably benign	Het
Kmt2a	A	G	9: 44,759,041 (GRCm39)	L936P	probably damaging	Het
Map3k6	T	C	4: 132,979,238 (GRCm39)	V1197A	probably benign	Het
Mthfsd	C	T	8: 121,825,525 (GRCm39)	A349T	probably benign	Het
Mtmr7	G	A	8: 41,050,427 (GRCm39)	R123W	probably damaging	Het
Muc16	T	A	9: 18,553,427 (GRCm39)	I4289F	probably benign	Het
Muc16	G	A	9: 18,566,747 (GRCm39)	T1924I	unknown	Het
Mybpc3	A	C	2: 90,950,832 (GRCm39)	D220A	probably damaging	Het
Neb	A	T	2: 52,146,587 (GRCm39)		probably null	Het
Nectin2	A	G	7: 19,464,544 (GRCm39)	W287R	probably damaging	Het
Nipsnap1	A	T	11: 4,834,089 (GRCm39)	T114S	probably damaging	Het
Nol9	T	C	4: 152,124,115 (GRCm39)	S102P	probably benign	Het
Olfml2b	A	T	1: 170,477,402 (GRCm39)	K179I	possibly damaging	Het
Or4a80	G	T	2: 89,582,665 (GRCm39)	P169H	probably damaging	Het
Pcnt	T	C	10: 76,235,773 (GRCm39)	M1403V	probably benign	Het
Phf7	T	C	14: 30,960,386 (GRCm39)	D284G	probably benign	Het
Pias3	A	G	3: 96,609,534 (GRCm39)	T319A	possibly damaging	Het
Pik3ip1	A	T	11: 3,283,558 (GRCm39)	I189F	probably damaging	Het
Pik3r1	T	A	13: 101,825,914 (GRCm39)	T371S	probably damaging	Het
Prmt7	A	G	8: 106,964,018 (GRCm39)	D304G	probably benign	Het
Prpf6	T	C	2: 181,294,248 (GRCm39)	V818A	probably benign	Het
Pstpip2	A	G	18: 77,959,305 (GRCm39)	E185G	probably damaging	Het
Ptprz1	T	G	6: 22,999,895 (GRCm39)	F662V	possibly damaging	Het
Rasgrp3	T	C	17: 75,803,411 (GRCm39)	F70L	probably benign	Het
Rcor1	A	T	12: 111,034,271 (GRCm39)		probably null	Het
Rnasel	A	G	1: 153,630,306 (GRCm39)	K274R	probably benign	Het
Rsbn1l	G	A	5: 21,101,455 (GRCm39)	T695I	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sema3a	T	C	5: 13,611,787 (GRCm39)	V351A	probably benign	Het
Serpina12	A	G	12: 104,004,587 (GRCm39)	L15P	unknown	Het
Siah1a	G	A	8: 87,451,840 (GRCm39)	R215C	probably benign	Het
Sin3a	T	A	9: 57,011,210 (GRCm39)	V489D	possibly damaging	Het
Slc22a17	A	G	14: 55,149,575 (GRCm39)	I208T	probably benign	Het
Slc36a4	G	A	9: 15,645,511 (GRCm39)	V313M	possibly damaging	Het
Sod1	T	A	16: 90,023,114 (GRCm39)	L145*	probably null	Het
Svep1	T	C	4: 58,053,260 (GRCm39)	N3362D	possibly damaging	Het
Taf4b	T	C	18: 14,946,602 (GRCm39)	L475P	probably damaging	Het
Telo2	G	T	17: 25,329,795 (GRCm39)	T239K	probably benign	Het
Trmt11	T	G	10: 30,436,870 (GRCm39)	D290A	probably damaging	Het
Trpc4	A	T	3: 54,225,516 (GRCm39)	D955V	possibly damaging	Het
Trpv6	T	C	6: 41,603,101 (GRCm39)	N257S	probably benign	Het
Usp12	T	C	5: 146,731,430 (GRCm39)	T15A	probably benign	Het
Vars2	G	T	17: 35,971,672 (GRCm39)	Q526K	probably damaging	Het
Vipas39	A	G	12: 87,310,677 (GRCm39)		probably null	Het
Zfp689	A	T	7: 127,044,010 (GRCm39)	C207S	probably damaging	Het
Zfpl1	C	A	19: 6,134,432 (GRCm39)	E18*	probably null	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
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'- TTTGATCGCAACCGCCCTAG -3'
(R):5'- CCCGATGGTGCTGTTGGAATAG -3'

Sequencing Primer
(F):5'- ACTACTATCAGTCTGGGGGCAG -3'
(R):5'- TTGGAATAGGTGTGGAAGGTCAC -3'

Posted On

2019-10-17