Mutagenetix > Incidental Mutation

Incidental Mutation 'R3025:Kcnb2'

265788

Institutional Source

Beutler Lab

Gene Symbol

Kcnb2

Ensembl Gene

ENSMUSG00000092083

Gene Name

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

Synonyms

Kv2.2, 9630047L19Rik

MMRRC Submission

040541-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3025 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15357478-15793974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 15781059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 644 (Q644K)

Ref Sequence

ENSEMBL: ENSMUSP00000135382 (fasta)

Gene Model

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

AlphaFold

A6H8H5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170146
AA Change: Q644K

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175681
AA Change: Q644K

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: Q644K

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	A	11: 105,864,919 (GRCm39)		probably null	Het
Akap6	A	G	12: 53,186,926 (GRCm39)	T1447A	probably benign	Het
Atp13a2	C	T	4: 140,721,659 (GRCm39)	R250C	probably damaging	Het
Cacna1a	T	A	8: 85,306,854 (GRCm39)		probably null	Het
Chd6	GATCAT	GAT	2: 160,808,472 (GRCm39)		probably benign	Het
Cptp	T	C	4: 155,951,678 (GRCm39)	E5G	possibly damaging	Het
Dnajc16	C	A	4: 141,501,922 (GRCm39)	V303F	probably benign	Het
Gm10842	T	C	11: 105,037,902 (GRCm39)	S62P	unknown	Het
Gm17509	T	C	13: 117,357,112 (GRCm39)		probably benign	Het
Homer1	C	T	13: 93,538,582 (GRCm39)	Q142*	probably null	Het
Map3k19	T	C	1: 127,766,290 (GRCm39)		probably null	Het
Msh4	T	A	3: 153,569,128 (GRCm39)	H621L	probably damaging	Het
Ogfod1	A	T	8: 94,789,680 (GRCm39)	E460D	probably damaging	Het
Or6c65	T	A	10: 129,603,542 (GRCm39)	F59Y	probably damaging	Het
Or8k41	A	T	2: 86,314,083 (GRCm39)	M1K	probably null	Het
Rp1	G	A	1: 4,422,898 (GRCm39)	R61W	probably damaging	Het
Scaf4	A	T	16: 90,048,826 (GRCm39)	H329Q	unknown	Het
Sec61a1	A	T	6: 88,489,202 (GRCm39)	D166E	probably damaging	Het
Tars2	C	T	3: 95,654,952 (GRCm39)	R63H	possibly damaging	Het
Vmn1r57	A	T	7: 5,223,714 (GRCm39)	K80*	probably null	Het
Vmn2r106	A	G	17: 20,499,147 (GRCm39)	W255R	probably benign	Het
Wdr49	C	G	3: 75,240,663 (GRCm39)	C402S	possibly damaging	Het

Other mutations in Kcnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Kcnb2	APN	1	15,781,236 (GRCm39)	missense	probably benign	0.02
IGL01321:Kcnb2	APN	1	15,383,147 (GRCm39)	missense	probably benign	0.09
IGL01353:Kcnb2	APN	1	15,781,048 (GRCm39)	missense	probably benign	0.02
IGL01990:Kcnb2	APN	1	15,383,178 (GRCm39)	missense	probably benign	0.19
IGL02008:Kcnb2	APN	1	15,781,033 (GRCm39)	missense	probably benign	0.00
IGL02120:Kcnb2	APN	1	15,780,085 (GRCm39)	missense	probably damaging	0.98
IGL02370:Kcnb2	APN	1	15,781,159 (GRCm39)	missense	probably benign
IGL02526:Kcnb2	APN	1	15,780,979 (GRCm39)	missense	probably damaging	1.00
IGL02859:Kcnb2	APN	1	15,780,730 (GRCm39)	missense	probably damaging	1.00
IGL03039:Kcnb2	APN	1	15,781,435 (GRCm39)	missense	probably benign
IGL03144:Kcnb2	APN	1	15,780,112 (GRCm39)	missense	probably damaging	1.00
F5770:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
PIT4131001:Kcnb2	UTSW	1	15,383,200 (GRCm39)	missense	possibly damaging	0.92
R0266:Kcnb2	UTSW	1	15,783,137 (GRCm39)	unclassified	probably benign
R0538:Kcnb2	UTSW	1	15,783,108 (GRCm39)	unclassified	probably benign
R0611:Kcnb2	UTSW	1	15,780,664 (GRCm39)	missense	probably benign	0.07
R1542:Kcnb2	UTSW	1	15,781,012 (GRCm39)	missense	probably benign	0.01
R1732:Kcnb2	UTSW	1	15,779,979 (GRCm39)	missense	probably benign	0.02
R1995:Kcnb2	UTSW	1	15,779,990 (GRCm39)	missense	possibly damaging	0.66
R2166:Kcnb2	UTSW	1	15,781,540 (GRCm39)	missense	possibly damaging	0.82
R2444:Kcnb2	UTSW	1	15,779,791 (GRCm39)	missense	probably benign
R3886:Kcnb2	UTSW	1	15,780,639 (GRCm39)	missense	probably damaging	1.00
R5010:Kcnb2	UTSW	1	15,383,186 (GRCm39)	missense	probably benign	0.09
R5039:Kcnb2	UTSW	1	15,779,724 (GRCm39)	missense	probably damaging	1.00
R5096:Kcnb2	UTSW	1	15,781,068 (GRCm39)	missense	probably benign	0.45
R5444:Kcnb2	UTSW	1	15,781,716 (GRCm39)	missense	probably benign
R5926:Kcnb2	UTSW	1	15,383,235 (GRCm39)	missense	probably benign	0.01
R6010:Kcnb2	UTSW	1	15,780,790 (GRCm39)	missense	possibly damaging	0.85
R6371:Kcnb2	UTSW	1	15,781,436 (GRCm39)	missense	probably benign
R6724:Kcnb2	UTSW	1	15,780,664 (GRCm39)	missense	probably damaging	1.00
R6981:Kcnb2	UTSW	1	15,780,480 (GRCm39)	missense	probably damaging	1.00
R7043:Kcnb2	UTSW	1	15,383,150 (GRCm39)	missense	probably benign
R7352:Kcnb2	UTSW	1	15,780,835 (GRCm39)	missense	probably benign
R7419:Kcnb2	UTSW	1	15,781,251 (GRCm39)	missense	possibly damaging	0.94
R7425:Kcnb2	UTSW	1	15,780,031 (GRCm39)	missense	probably damaging	1.00
R7606:Kcnb2	UTSW	1	15,383,064 (GRCm39)	missense	probably damaging	1.00
R7978:Kcnb2	UTSW	1	15,780,837 (GRCm39)	missense	probably benign	0.15
R7983:Kcnb2	UTSW	1	15,383,004 (GRCm39)	missense	probably damaging	0.98
R8115:Kcnb2	UTSW	1	15,781,851 (GRCm39)	makesense	probably null
R8156:Kcnb2	UTSW	1	15,780,280 (GRCm39)	missense	probably damaging	1.00
R8408:Kcnb2	UTSW	1	15,781,777 (GRCm39)	missense	probably damaging	1.00
R8439:Kcnb2	UTSW	1	15,382,934 (GRCm39)	missense	probably damaging	1.00
R8726:Kcnb2	UTSW	1	15,780,876 (GRCm39)	missense	probably benign	0.00
R8738:Kcnb2	UTSW	1	15,780,648 (GRCm39)	missense	probably benign	0.07
R9274:Kcnb2	UTSW	1	15,781,723 (GRCm39)	missense	probably benign
R9321:Kcnb2	UTSW	1	15,779,793 (GRCm39)	missense	possibly damaging	0.46
R9563:Kcnb2	UTSW	1	15,779,737 (GRCm39)	missense	probably damaging	1.00
R9633:Kcnb2	UTSW	1	15,781,444 (GRCm39)	missense	probably benign
R9709:Kcnb2	UTSW	1	15,780,523 (GRCm39)	missense	probably benign	0.31
V7580:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
V7581:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
V7582:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
V7583:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
Z1088:Kcnb2	UTSW	1	15,781,252 (GRCm39)	missense	probably benign	0.01
Z1088:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.03
Z1177:Kcnb2	UTSW	1	15,781,182 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CCTGAGAGGCCATGTGTGTATG -3'
(R):5'- TTTCAGCGAGCTCTTAGGGC -3'

Sequencing Primer
(F):5'- AGAGGTGATCTGCCCACAG -3'
(R):5'- AGCTCTTAGGGCTGTCGC -3'

Posted On

2015-02-05