Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Kcnc2'

514341

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

044492-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6338 (G1)

Quality Score

157.009

Status

Not validated

Chromosome

Chromosomal Location

112107026-112302929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 112107761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 51 (G51R)

Ref Sequence

ENSEMBL: ENSMUSP00000151579 (fasta)

Gene Model

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

AlphaFold

Q14B80

Predicted Effect

probably benign
Transcript: ENSMUST00000092175
AA Change: G51R

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000089814
Gene: ENSMUSG00000035681
AA Change: G51R

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 benign
Transcript: ENSMUST00000219301
AA Change: G51R

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Meta Mutation Damage Score

0.1030

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 97,906,922 (GRCm39)	Y128C	probably damaging	Het
Adam30	T	G	3: 98,068,857 (GRCm39)	I102S	probably damaging	Het
Adcy8	A	T	15: 64,792,466 (GRCm39)	D163E	possibly damaging	Het
Agrn	C	T	4: 156,255,042 (GRCm39)	E1614K	probably benign	Het
Aldh16a1	A	T	7: 44,791,385 (GRCm39)	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,687,490 (GRCm39)	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,664,070 (GRCm39)	S738G	probably benign	Het
Arid5b	C	A	10: 67,934,391 (GRCm39)	G504*	probably null	Het
Carmil3	T	C	14: 55,737,306 (GRCm39)	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,899,154 (GRCm39)	D186V	probably damaging	Het
Cdh23	T	C	10: 60,248,930 (GRCm39)	D882G	probably damaging	Het
Cdh4	T	C	2: 179,532,605 (GRCm39)	V689A	probably damaging	Het
Cntn6	T	A	6: 104,703,100 (GRCm39)	V174E	probably damaging	Het
Col7a1	C	T	9: 108,785,701 (GRCm39)	T390M	unknown	Het
Crybg1	T	C	10: 43,868,505 (GRCm39)	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,982,492 (GRCm39)	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,244,896 (GRCm39)	E55G	probably damaging	Het
Efcab3	C	T	11: 104,734,034 (GRCm39)	R2027*	probably null	Het
Fam13a	A	G	6: 58,930,484 (GRCm39)	V476A	probably damaging	Het
Fem1b	A	T	9: 62,704,293 (GRCm39)	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489 (GRCm39)	V466I	probably benign	Het
Gm20671	A	T	5: 32,977,991 (GRCm39)	D1794E	probably damaging	Het
Gpatch2	G	T	1: 186,957,711 (GRCm39)	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,465,880 (GRCm39)	T450A	probably benign	Het
Krit1	T	G	5: 3,886,857 (GRCm39)	M702R	probably benign	Het
Krt34	T	C	11: 99,929,316 (GRCm39)	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,612,376 (GRCm39)	N376K	possibly damaging	Het
Myo15a	A	G	11: 60,368,959 (GRCm39)	E573G	probably damaging	Het
Or11j4	T	A	14: 50,630,857 (GRCm39)	F215I	possibly damaging	Het
Or1af1	A	T	2: 37,109,834 (GRCm39)	D111V	probably damaging	Het
Or1e31	A	T	11: 73,690,145 (GRCm39)	L146Q	possibly damaging	Het
Or2y17	A	G	11: 49,231,694 (GRCm39)	S112G	probably benign	Het
Or4c119	T	A	2: 88,986,715 (GRCm39)	K268I	probably damaging	Het
Or56b2	T	A	7: 104,337,378 (GRCm39)	V52E	possibly damaging	Het
Phf20	A	T	2: 156,115,606 (GRCm39)	Q309L	possibly damaging	Het
Plcd1	G	A	9: 118,904,059 (GRCm39)	R292C	probably damaging	Het
Pold3	A	G	7: 99,737,312 (GRCm39)	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,630,505 (GRCm39)		probably null	Het
Ptprcap	A	G	19: 4,206,223 (GRCm39)	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,318,360 (GRCm39)	E843G	possibly damaging	Het
Rai14	T	C	15: 10,575,062 (GRCm39)	D632G	probably damaging	Het
Rnf149	A	T	1: 39,599,823 (GRCm39)	C268S	probably null	Het
Slc6a13	T	A	6: 121,311,798 (GRCm39)	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,338,492 (GRCm39)		probably null	Het
Slf1	T	A	13: 77,232,581 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,527,966 (GRCm39)	V1408I	probably benign	Het
Suclg1	T	C	6: 73,241,229 (GRCm39)	I183T	probably damaging	Het
Syne1	T	C	10: 5,205,475 (GRCm39)	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,706,361 (GRCm39)	R121*	probably null	Het
Tdpoz2	C	T	3: 93,559,643 (GRCm39)	V110I	probably benign	Het
Ubn2	A	G	6: 38,467,649 (GRCm39)	T788A	probably benign	Het
Unc13c	T	A	9: 73,641,729 (GRCm39)	I1255F	probably damaging	Het
Usp44	G	T	10: 93,682,375 (GRCm39)	R275I	probably damaging	Het
Uspl1	A	G	5: 149,151,844 (GRCm39)	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,183,246 (GRCm39)	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,724,849 (GRCm39)	D170E	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
R0133:Kcnc2	UTSW	10	112,294,502 (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
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'- TCCCCTAGTCATGTCTGAGC -3'
(R):5'- CCGTGCGGTAGTAATTGAGC -3'

Sequencing Primer
(F):5'- CTAGTCATGTCTGAGCCACAG -3'
(R):5'- TTGAGCACATAGGCGAATACTCCTG -3'

Posted On

2018-04-27