Mutagenetix > Incidental Mutation

Incidental Mutation 'R0133:Kcnc2'

21767

Institutional Source

Beutler Lab

Gene Symbol

Kcnc2

Ensembl Gene

ENSMUSG00000035681

Gene Name

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

Synonyms

Kv3.2, KShIIIA

MMRRC Submission

038418-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0133 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

112107026-112302929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112294502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 579 (C579R)

Ref Sequence

ENSEMBL: ENSMUSP00000089814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092175] [ENSMUST00000218445] [ENSMUST00000218827] [ENSMUST00000219301] [ENSMUST00000219607]

AlphaFold

Q14B80

Predicted Effect

probably damaging
Transcript: ENSMUST00000092175
AA Change: C579R

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

SMART Domains

Protein: ENSMUSP00000089814
Gene: ENSMUSG00000035681
AA Change: C579R

Domain	Start	End	E-Value	Type
BTB	8	163	2.53e-17	SMART
Pfam:Ion_trans	232	488	1e-46	PFAM
Pfam:Ion_trans_2	388	481	5.8e-13	PFAM
low complexity region	552	568	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000218445
AA Change: C177R

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

Predicted Effect

silent
Transcript: ENSMUST00000218827

Predicted Effect

probably damaging
Transcript: ENSMUST00000219301
AA Change: C579R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219607
AA Change: C130R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.3075

Coding Region Coverage

1x: 98.8%
3x: 97.9%
10x: 95.2%
20x: 89.4%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired fast spiking in cortical interneurons, distorted cortical rhythmic activity, enhanced susceptibility to seizures, increased anxiety in the open field, and abnormal sleep patterns. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	C	11: 102,996,214 (GRCm39)	S172P	probably damaging	Het
Akap6	A	T	12: 53,186,254 (GRCm39)	K1223*	probably null	Het
Akna	G	A	4: 63,297,598 (GRCm39)	Q819*	probably null	Het
Ankrd2	T	C	19: 42,032,510 (GRCm39)	V257A	probably benign	Het
Arap1	T	A	7: 101,035,436 (GRCm39)	D30E	probably damaging	Het
Atp6v0d2	T	C	4: 19,910,578 (GRCm39)		probably benign	Het
Blm	T	A	7: 80,152,115 (GRCm39)	I611F	possibly damaging	Het
Ccng2	A	G	5: 93,421,240 (GRCm39)	K250R	probably benign	Het
Cdhr3	A	G	12: 33,142,751 (GRCm39)	L8P	possibly damaging	Het
Csf2rb	T	G	15: 78,223,204 (GRCm39)		probably benign	Het
Ctbs	A	G	3: 146,163,223 (GRCm39)	I204V	probably benign	Het
Cxcl16	T	A	11: 70,349,596 (GRCm39)	E76D	possibly damaging	Het
Dhx15	T	C	5: 52,311,414 (GRCm39)	I689V	possibly damaging	Het
Dlk2	T	C	17: 46,609,868 (GRCm39)		probably benign	Het
Dnah2	A	T	11: 69,311,835 (GRCm39)	M4452K	probably damaging	Het
Dok4	T	A	8: 95,591,991 (GRCm39)	I280F	probably benign	Het
Dsc3	T	C	18: 20,104,639 (GRCm39)	T563A	probably damaging	Het
Dsg1b	C	T	18: 20,537,935 (GRCm39)	A617V	probably damaging	Het
Eps8l2	C	T	7: 140,942,120 (GRCm39)	P721S	unknown	Het
Evx2	T	C	2: 74,489,426 (GRCm39)	D112G	possibly damaging	Het
Fam124a	C	A	14: 62,843,782 (GRCm39)	T430K	possibly damaging	Het
Fbrs	C	T	7: 127,088,782 (GRCm39)		probably benign	Het
Fbxw14	T	C	9: 109,103,647 (GRCm39)	T22A	probably benign	Het
Fmo5	T	G	3: 97,552,952 (GRCm39)	V300G	probably damaging	Het
Gadl1	T	C	9: 115,770,411 (GRCm39)	S75P	probably benign	Het
Galnt2	T	G	8: 125,065,277 (GRCm39)	I469S	probably benign	Het
Gga3	T	A	11: 115,479,805 (GRCm39)		probably benign	Het
Gm10647	T	C	9: 66,705,771 (GRCm39)		probably benign	Het
Gm14180	C	A	11: 99,625,043 (GRCm39)	C25F	unknown	Het
Grid2	A	T	6: 64,297,116 (GRCm39)	D493V	probably damaging	Het
Gzmc	T	A	14: 56,469,754 (GRCm39)	Y182F	possibly damaging	Het
Hecw2	A	C	1: 53,869,899 (GRCm39)	L1443R	probably damaging	Het
Igkv4-62	A	G	6: 69,377,053 (GRCm39)	I32T	probably benign	Het
Ikzf1	T	A	11: 11,691,015 (GRCm39)		probably null	Het
Il27ra	G	A	8: 84,760,571 (GRCm39)		probably benign	Het
Jmjd1c	C	A	10: 67,076,587 (GRCm39)	A2137D	probably benign	Het
Kdr	T	C	5: 76,112,498 (GRCm39)	T862A	probably damaging	Het
Kif17	T	C	4: 138,005,556 (GRCm39)	S182P	possibly damaging	Het
Klf5	A	T	14: 99,539,318 (GRCm39)	T164S	probably benign	Het
Ksr2	T	G	5: 117,693,359 (GRCm39)	V269G	possibly damaging	Het
Mcm5	T	A	8: 75,847,539 (GRCm39)	D445E	probably damaging	Het
Mlkl	T	C	8: 112,054,580 (GRCm39)	I186V	probably damaging	Het
Muc4	A	T	16: 32,591,978 (GRCm39)	S3017C	possibly damaging	Het
Myo15a	T	C	11: 60,368,676 (GRCm39)	F479L	possibly damaging	Het
Myo6	A	G	9: 80,181,257 (GRCm39)		probably benign	Het
Myom1	T	A	17: 71,354,782 (GRCm39)	V393E	probably damaging	Het
Nup98	T	A	7: 101,788,859 (GRCm39)		probably null	Het
Odf2l	A	G	3: 144,854,302 (GRCm39)	N383S	probably damaging	Het
Olfml3	A	C	3: 103,644,342 (GRCm39)		probably null	Het
Or10q1	T	A	19: 13,727,352 (GRCm39)	I294N	probably damaging	Het
Or7g17	G	A	9: 18,767,925 (GRCm39)	M1I	probably null	Het
Or8g18	A	G	9: 39,149,307 (GRCm39)	Y141H	probably benign	Het
Or8j3b	A	T	2: 86,205,159 (GRCm39)	V199E	possibly damaging	Het
Plxna4	A	T	6: 32,174,009 (GRCm39)	D1195E	probably benign	Het
Ppp1r1a	T	A	15: 103,446,247 (GRCm39)	H20L	probably damaging	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Prom2	A	G	2: 127,380,258 (GRCm39)		probably benign	Het
Rasal3	T	C	17: 32,622,357 (GRCm39)	M1V	probably null	Het
Rhoj	A	G	12: 75,441,194 (GRCm39)		probably null	Het
Rnf40	C	T	7: 127,196,032 (GRCm39)		probably null	Het
Slc15a3	T	C	19: 10,820,614 (GRCm39)	L77P	probably damaging	Het
Slc26a6	T	C	9: 108,738,522 (GRCm39)	V586A	possibly damaging	Het
Slc30a10	T	A	1: 185,187,370 (GRCm39)	L37Q	probably damaging	Het
Slc43a2	T	A	11: 75,454,403 (GRCm39)	M316K	probably benign	Het
Smarcal1	T	C	1: 72,672,010 (GRCm39)	F844L	probably benign	Het
Snx19	A	G	9: 30,339,912 (GRCm39)	E350G	possibly damaging	Het
Tecta	T	A	9: 42,278,524 (GRCm39)	T995S	probably benign	Het
Tmc3	T	G	7: 83,261,681 (GRCm39)	N586K	probably damaging	Het
Tmem107	T	A	11: 68,963,239 (GRCm39)		probably benign	Het
Tmem247	A	G	17: 87,225,989 (GRCm39)	Q51R	probably benign	Het
Tmpo	G	T	10: 90,999,900 (GRCm39)		probably benign	Het
Ubr5	T	A	15: 37,996,815 (GRCm39)	T1894S	probably damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Xirp2	T	A	2: 67,347,468 (GRCm39)	H3236Q	probably benign	Het
Zfand4	G	A	6: 116,291,700 (GRCm39)	D545N	probably benign	Het
Zkscan3	G	T	13: 21,578,944 (GRCm39)	P155T	possibly damaging	Het

Other mutations in Kcnc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Kcnc2	APN	10	112,297,892 (GRCm39)	missense	probably benign	0.04
IGL00595:Kcnc2	APN	10	112,297,893 (GRCm39)	missense	probably damaging	0.99
IGL01646:Kcnc2	APN	10	112,108,311 (GRCm39)	critical splice donor site	probably null
IGL01950:Kcnc2	APN	10	112,297,980 (GRCm39)	intron	probably benign
IGL02036:Kcnc2	APN	10	112,291,831 (GRCm39)	missense	possibly damaging	0.94
IGL02164:Kcnc2	APN	10	112,291,590 (GRCm39)	missense	possibly damaging	0.92
IGL02447:Kcnc2	APN	10	112,291,851 (GRCm39)	missense	probably damaging	1.00
IGL03087:Kcnc2	APN	10	112,291,652 (GRCm39)	missense	probably benign	0.19
IGL03385:Kcnc2	APN	10	112,291,691 (GRCm39)	missense	probably damaging	1.00
R1444:Kcnc2	UTSW	10	112,291,506 (GRCm39)	unclassified	probably benign
R1474:Kcnc2	UTSW	10	112,292,305 (GRCm39)	missense	probably damaging	1.00
R2221:Kcnc2	UTSW	10	112,292,431 (GRCm39)	missense	probably damaging	1.00
R4504:Kcnc2	UTSW	10	112,291,699 (GRCm39)	missense	probably damaging	1.00
R4714:Kcnc2	UTSW	10	112,291,733 (GRCm39)	missense	possibly damaging	0.82
R4935:Kcnc2	UTSW	10	112,108,133 (GRCm39)	missense	probably benign	0.00
R6168:Kcnc2	UTSW	10	112,291,661 (GRCm39)	missense	probably benign	0.13
R6338:Kcnc2	UTSW	10	112,107,761 (GRCm39)	missense	probably benign	0.04
R6375:Kcnc2	UTSW	10	112,299,094 (GRCm39)	missense	possibly damaging	0.92
R6511:Kcnc2	UTSW	10	112,297,972 (GRCm39)	intron	probably benign
R6516:Kcnc2	UTSW	10	112,297,905 (GRCm39)	missense	probably benign	0.00
R6556:Kcnc2	UTSW	10	112,107,761 (GRCm39)	missense	probably benign	0.04
R6609:Kcnc2	UTSW	10	112,107,761 (GRCm39)	missense	probably benign	0.04
R6610:Kcnc2	UTSW	10	112,107,761 (GRCm39)	missense	probably benign	0.04
R6612:Kcnc2	UTSW	10	112,107,761 (GRCm39)	missense	probably benign	0.04
R6837:Kcnc2	UTSW	10	112,294,407 (GRCm39)	missense	probably damaging	0.96
R7151:Kcnc2	UTSW	10	112,294,414 (GRCm39)	missense	possibly damaging	0.46
R7715:Kcnc2	UTSW	10	112,107,845 (GRCm39)	nonsense	probably null
R8506:Kcnc2	UTSW	10	112,291,537 (GRCm39)	missense	probably damaging	1.00
R8544:Kcnc2	UTSW	10	112,292,101 (GRCm39)	missense	probably damaging	1.00
R8782:Kcnc2	UTSW	10	112,292,437 (GRCm39)	missense	probably benign	0.00
R9013:Kcnc2	UTSW	10	112,107,723 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnc2	UTSW	10	112,108,211 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACCTGTGAGAAAGCTAACTGCCC -3'
(R):5'- TGCGCTCCTTGGAAAATGACGAC -3'

Sequencing Primer
(F):5'- GACTACGGGCATCTGTTGTAAAC -3'
(R):5'- AAATGACGACTGAGCGTTTTGC -3'

Posted On

2013-04-12