Mutagenetix > Incidental Mutation

Incidental Mutation 'R2444:Kcnb2'

249896

Institutional Source

Beutler Lab

Gene Symbol

Kcnb2

Ensembl Gene

ENSMUSG00000092083

Gene Name

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

Synonyms

9630047L19Rik, Kv2.2

MMRRC Submission

040402-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2444 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15287254-15723750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15709567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 221 (N221I)

Ref Sequence

ENSEMBL: ENSMUSP00000135382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170146] [ENSMUST00000175681]

AlphaFold

A6H8H5

Predicted Effect

probably benign
Transcript: ENSMUST00000170146
AA Change: N221I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000175681
AA Change: N221I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: N221I

Domain	Start	End	E-Value	Type
BTB	35	144	2.59e-14	SMART
low complexity region	150	166	N/A	INTRINSIC
Pfam:Ion_trans	192	428	1.7e-51	PFAM
Pfam:Ion_trans_2	336	422	2.5e-13	PFAM
Pfam:Kv2channel	471	755	7.7e-149	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) 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, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit neurological abnormalities when compared with controls, including an abnormal sleep/wake cycle, decreased exploratory and locomotor activity, and a motor strength deficit. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	T	10: 79,068,727	D112E	possibly damaging	Het
4833427G06Rik	A	G	9: 51,099,998		probably null	Het
Abca15	A	G	7: 120,365,897	Y794C	probably damaging	Het
Bicd2	T	C	13: 49,379,024	V362A	probably benign	Het
Cep126	G	A	9: 8,101,306	T409M	probably damaging	Het
Cep131	A	G	11: 120,070,495	F610S	probably damaging	Het
Cfap61	T	C	2: 146,035,319		probably null	Het
Chd1l	A	G	3: 97,590,566	Y320H	probably damaging	Het
Dnajc30	A	G	5: 135,064,585	D112G	probably damaging	Het
Fam184a	A	C	10: 53,640,949	L410R	probably damaging	Het
Fat2	T	C	11: 55,281,973	N2638S	probably damaging	Het
Fgf15	A	G	7: 144,899,692	D134G	probably benign	Het
Flywch2	A	T	17: 23,777,050	S124R	possibly damaging	Het
Gabra5	G	A	7: 57,408,875	T375I	probably benign	Het
Gpat3	C	T	5: 100,857,173	P58L	probably benign	Het
Hltf	T	A	3: 20,063,907	N44K	possibly damaging	Het
Marco	G	A	1: 120,494,770	T61M	probably damaging	Het
Med13	A	G	11: 86,331,960	I180T	probably damaging	Het
Mei1	C	T	15: 82,112,941	T626M	probably damaging	Het
Mtnr1a	C	T	8: 45,087,658	Q219*	probably null	Het
Nav3	A	G	10: 109,764,915	S1284P	probably benign	Het
Olfr338	T	C	2: 36,377,613	V279A	possibly damaging	Het
Olfr849	T	A	9: 19,441,015	I34K	possibly damaging	Het
Pcdh9	T	A	14: 93,886,791	T648S	probably benign	Het
Proz	A	T	8: 13,061,027		probably benign	Het
Rec114	G	T	9: 58,660,319	A128E	probably damaging	Het
Rspry1	G	T	8: 94,623,107	G41V	probably damaging	Het
Sbf2	A	T	7: 110,330,698	M1388K	probably benign	Het
Spice1	C	T	16: 44,366,568	Q143*	probably null	Het
Tcstv3	A	T	13: 120,317,829	K88M	probably damaging	Het
Terb2	T	A	2: 122,193,307		probably null	Het
Tmx3	A	T	18: 90,540,183	K453M	probably damaging	Het
Tnc	T	C	4: 64,014,963	Y688C	probably damaging	Het
Tshz2	T	G	2: 169,884,806	S441A	probably benign	Het
Usp45	A	T	4: 21,817,528	M399L	probably benign	Het
Vmn2r82	A	T	10: 79,377,868	H96L	possibly damaging	Het
Wdr60	T	C	12: 116,232,669	D486G	possibly damaging	Het
Wls	G	A	3: 159,907,230	R261Q	probably damaging	Het

Other mutations in Kcnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Kcnb2	APN	1	15711012	missense	probably benign	0.02
IGL01321:Kcnb2	APN	1	15312923	missense	probably benign	0.09
IGL01353:Kcnb2	APN	1	15710824	missense	probably benign	0.02
IGL01990:Kcnb2	APN	1	15312954	missense	probably benign	0.19
IGL02008:Kcnb2	APN	1	15710809	missense	probably benign	0.00
IGL02120:Kcnb2	APN	1	15709861	missense	probably damaging	0.98
IGL02370:Kcnb2	APN	1	15710935	missense	probably benign
IGL02526:Kcnb2	APN	1	15710755	missense	probably damaging	1.00
IGL02859:Kcnb2	APN	1	15710506	missense	probably damaging	1.00
IGL03039:Kcnb2	APN	1	15711211	missense	probably benign
IGL03144:Kcnb2	APN	1	15709888	missense	probably damaging	1.00
F5770:Kcnb2	UTSW	1	15710091	missense	probably benign	0.07
PIT4131001:Kcnb2	UTSW	1	15312976	missense	possibly damaging	0.92
R0266:Kcnb2	UTSW	1	15712913	unclassified	probably benign
R0538:Kcnb2	UTSW	1	15712884	unclassified	probably benign
R0611:Kcnb2	UTSW	1	15710440	missense	probably benign	0.07
R1542:Kcnb2	UTSW	1	15710788	missense	probably benign	0.01
R1732:Kcnb2	UTSW	1	15709755	missense	probably benign	0.02
R1995:Kcnb2	UTSW	1	15709766	missense	possibly damaging	0.66
R2166:Kcnb2	UTSW	1	15711316	missense	possibly damaging	0.82
R3025:Kcnb2	UTSW	1	15710835	missense	possibly damaging	0.87
R3886:Kcnb2	UTSW	1	15710415	missense	probably damaging	1.00
R5010:Kcnb2	UTSW	1	15312962	missense	probably benign	0.09
R5039:Kcnb2	UTSW	1	15709500	missense	probably damaging	1.00
R5096:Kcnb2	UTSW	1	15710844	missense	probably benign	0.45
R5444:Kcnb2	UTSW	1	15711492	missense	probably benign
R5926:Kcnb2	UTSW	1	15313011	missense	probably benign	0.01
R6010:Kcnb2	UTSW	1	15710566	missense	possibly damaging	0.85
R6371:Kcnb2	UTSW	1	15711212	missense	probably benign
R6724:Kcnb2	UTSW	1	15710440	missense	probably damaging	1.00
R6981:Kcnb2	UTSW	1	15710256	missense	probably damaging	1.00
R7043:Kcnb2	UTSW	1	15312926	missense	probably benign
R7352:Kcnb2	UTSW	1	15710611	missense	probably benign
R7419:Kcnb2	UTSW	1	15711027	missense	possibly damaging	0.94
R7425:Kcnb2	UTSW	1	15709807	missense	probably damaging	1.00
R7606:Kcnb2	UTSW	1	15312840	missense	probably damaging	1.00
R7978:Kcnb2	UTSW	1	15710613	missense	probably benign	0.15
R7983:Kcnb2	UTSW	1	15312780	missense	probably damaging	0.98
R8115:Kcnb2	UTSW	1	15711627	makesense	probably null
R8156:Kcnb2	UTSW	1	15710056	missense	probably damaging	1.00
R8408:Kcnb2	UTSW	1	15711553	missense	probably damaging	1.00
R8439:Kcnb2	UTSW	1	15312710	missense	probably damaging	1.00
R8726:Kcnb2	UTSW	1	15710652	missense	probably benign	0.00
R8738:Kcnb2	UTSW	1	15710424	missense	probably benign	0.07
R9274:Kcnb2	UTSW	1	15711499	missense	probably benign
R9321:Kcnb2	UTSW	1	15709569	missense	possibly damaging	0.46
R9563:Kcnb2	UTSW	1	15709513	missense	probably damaging	1.00
R9633:Kcnb2	UTSW	1	15711220	missense	probably benign
R9709:Kcnb2	UTSW	1	15710299	missense	probably benign	0.31
V7580:Kcnb2	UTSW	1	15710091	missense	probably benign	0.07
V7581:Kcnb2	UTSW	1	15710091	missense	probably benign	0.07
V7582:Kcnb2	UTSW	1	15710091	missense	probably benign	0.07
V7583:Kcnb2	UTSW	1	15710091	missense	probably benign	0.07
Z1088:Kcnb2	UTSW	1	15710091	missense	probably benign	0.03
Z1088:Kcnb2	UTSW	1	15711028	missense	probably benign	0.01
Z1177:Kcnb2	UTSW	1	15710958	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CGTGTTCTCTATCATTCAAAGAACC -3'
(R):5'- ATTCTGGAACTGCAGCACAC -3'

Sequencing Primer
(F):5'- CCACCAAAGCATGTGTGGTTG -3'
(R):5'- GGAACTGCAGCACACTTTTG -3'

Posted On

2014-11-12