Mutagenetix > Incidental Mutation

Incidental Mutation 'R5926:Kcnb2'

459866

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

044121-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15287254-15723750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15313011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 187 (N187S)

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: N187S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000175681
AA Change: N187S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: N187S

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,560,645	Y701F	probably benign	Het
Abra	T	A	15: 41,866,254	H250L	probably damaging	Het
Acer2	T	C	4: 86,874,568	V27A	probably benign	Het
Arhgef15	A	G	11: 68,951,955	L343S	possibly damaging	Het
Arnt2	G	T	7: 84,343,946	H129N	probably damaging	Het
Atp9a	T	A	2: 168,706,271	Y63F	probably damaging	Het
Brca2	A	G	5: 150,534,622	T213A	probably benign	Het
Cdk5r1	T	C	11: 80,478,302		probably null	Het
Cyb5r4	C	T	9: 87,057,261	L366F	probably benign	Het
Cyp20a1	T	A	1: 60,363,242	I162K	possibly damaging	Het
Dcaf1	T	C	9: 106,838,362	V226A	probably benign	Het
Ddx41	A	T	13: 55,534,299	M232K	probably damaging	Het
Dnm1	C	T	2: 32,315,804	V99I	probably benign	Het
Doc2a	T	C	7: 126,849,525	V134A	probably damaging	Het
Ghdc	C	T	11: 100,768,237	V380M	possibly damaging	Het
Gldn	A	G	9: 54,338,438	I424M	possibly damaging	Het
Haus6	A	T	4: 86,599,316	H270Q	probably benign	Het
Hfe	A	T	13: 23,708,264	M39K	probably damaging	Het
Jakmip1	C	T	5: 37,085,280		probably benign	Het
Kcnd2	A	G	6: 21,217,085	S263G	probably damaging	Het
Kcnh1	A	G	1: 192,413,077	N481S	probably benign	Het
Kcnn2	A	G	18: 45,685,284	I343V	probably benign	Het
L3hypdh	T	A	12: 72,077,185	S300C	probably damaging	Het
Lrit1	T	A	14: 37,055,009	C29S	probably damaging	Het
Mark3	T	A	12: 111,592,734	V70E	probably damaging	Het
Med16	C	T	10: 79,902,528	V319M	probably damaging	Het
Mindy3	T	C	2: 12,348,100	Y430C	probably damaging	Het
Mup5	A	T	4: 61,833,049	F121I	probably benign	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Notch1	A	G	2: 26,476,104	Y813H	probably benign	Het
Olfr1415	A	T	1: 92,491,566	L63Q	probably damaging	Het
Olfr473	T	C	7: 107,933,903	S128P	probably damaging	Het
Olfr512	T	C	7: 108,713,587	L66S	probably damaging	Het
Pi4kb	A	G	3: 94,998,996	Y301C	probably damaging	Het
Ptch1	A	G	13: 63,545,055	S244P	probably benign	Het
Ptprn	G	A	1: 75,254,598	T554I	probably damaging	Het
Ptprt	T	C	2: 161,564,686	I969V	probably benign	Het
Raf1	T	C	6: 115,619,898	M519V	probably benign	Het
Ryr1	A	G	7: 29,104,360	V622A	probably damaging	Het
Spaca4	G	T	7: 45,725,295	H94Q	probably benign	Het
Spata31	A	G	13: 64,920,725	D229G	possibly damaging	Het
Tbx6	G	A	7: 126,784,853	A359T	possibly damaging	Het
Trpm8	T	A	1: 88,330,747	Y251N	probably damaging	Het
Vps16	T	A	2: 130,443,556	N806K	probably damaging	Het
Vwf	T	C	6: 125,604,174	F592L	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
R2444:Kcnb2	UTSW	1	15709567	missense	probably benign
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
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'- GAGGAAATGTGTGCGCTCTC -3'
(R):5'- GACTACATCTGCCAACCTATGAAG -3'

Sequencing Primer
(F):5'- GGCATCGATGAGATCTACCTAGAGTC -3'
(R):5'- TCTGCCAACCTATGAAGCTGAG -3'

Posted On

2017-02-28