Mutagenetix > Incidental Mutation

Incidental Mutation 'R0266:Kcnb2'

34894

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

038492-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15287254-15723750 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 15712913 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135382 (fasta)

Gene Model

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

AlphaFold

A6H8H5

Predicted Effect

probably benign
Transcript: ENSMUST00000170146

Predicted Effect

probably benign
Transcript: ENSMUST00000175681

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.3%
3x: 97.2%
10x: 94.9%
20x: 89.8%

Validation Efficiency

100% (79/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	A	G	12: 110,668,754	S117P	possibly damaging	Het
Aars2	T	C	17: 45,507,510		probably benign	Het
Acot11	T	C	4: 106,749,988	D466G	probably damaging	Het
Adgrd1	G	A	5: 129,139,594	A342T	probably benign	Het
Apbb2	A	T	5: 66,302,611	N714K	probably benign	Het
Aqp12	C	A	1: 93,006,850	H150N	possibly damaging	Het
Brinp3	T	A	1: 146,682,680	L114*	probably null	Het
Ccng2	T	C	5: 93,271,289		probably benign	Het
Cd36	T	A	5: 17,798,252	R265S	probably benign	Het
Ces4a	T	C	8: 105,141,966	L104S	probably benign	Het
Clca4b	T	C	3: 144,922,786	I387V	probably damaging	Het
Cul7	T	A	17: 46,654,595	H566Q	probably benign	Het
Ddx60	A	T	8: 62,033,493	H1646L	possibly damaging	Het
Dntt	T	C	19: 41,059,127	I503T	probably damaging	Het
Dynlt1a	T	G	17: 6,317,395	E2D	probably benign	Het
Efemp2	G	T	19: 5,477,999	C78F	probably damaging	Het
Esco1	T	C	18: 10,594,605	E227G	probably benign	Het
Fezf2	T	A	14: 12,342,607	K419N	probably damaging	Het
Gm17541	A	T	12: 4,689,487		probably benign	Het
Gm2381	G	A	7: 42,819,948	Q251*	probably null	Het
Gm4782	T	G	6: 50,610,694	S686R	probably damaging	Het
Grin3a	G	A	4: 49,665,501	R1045*	probably null	Het
Grm8	T	C	6: 27,285,896	Y839C	probably damaging	Het
Gtf3c1	G	A	7: 125,644,134	P1766L	possibly damaging	Het
Herc2	T	A	7: 56,206,578	H3921Q	probably damaging	Het
Hes6	A	T	1: 91,412,304	D143E	possibly damaging	Het
Hmcn2	A	G	2: 31,394,827	E2055G	probably benign	Het
Hmcn2	G	A	2: 31,445,353		probably benign	Het
Ikzf3	A	G	11: 98,467,317	L398P	probably benign	Het
Il10ra	A	T	9: 45,265,652	I125N	probably benign	Het
Krt77	T	C	15: 101,869,378	R81G	possibly damaging	Het
Lrrc40	T	A	3: 158,041,661		probably null	Het
Man1a2	C	T	3: 100,582,034	R543Q	probably damaging	Het
Mansc1	T	C	6: 134,610,707	D169G	probably benign	Het
Mdn1	T	A	4: 32,741,835	S3869T	probably damaging	Het
Mettl14	A	T	3: 123,382,826	S58T	probably benign	Het
Mrpl4	T	C	9: 21,003,314	V62A	probably benign	Het
Myh3	A	G	11: 67,093,672	D1085G	possibly damaging	Het
Myo5c	C	A	9: 75,284,216		probably benign	Het
Naalad2	G	T	9: 18,350,943		probably benign	Het
Nat3	A	G	8: 67,547,780	T104A	probably benign	Het
Nek4	A	G	14: 30,957,296	E198G	probably damaging	Het
Olfm1	A	G	2: 28,229,607	Y403C	probably damaging	Het
Olfr1131	C	A	2: 87,629,282	T273K	possibly damaging	Het
Olfr873	A	T	9: 20,301,158	R320S	probably benign	Het
Osbpl1a	T	A	18: 12,871,163		probably null	Het
Pax7	G	A	4: 139,779,736	S330L	possibly damaging	Het
Pcdhb15	C	A	18: 37,475,276	D520E	probably damaging	Het
Pgm3	T	C	9: 86,567,533	T145A	probably benign	Het
Phox2b	G	A	5: 67,096,625		probably null	Het
Pik3r6	A	T	11: 68,526,408	R59*	probably null	Het
Pold1	A	G	7: 44,541,025		probably benign	Het
Ppp1r21	T	C	17: 88,569,072		probably benign	Het
Prl5a1	A	G	13: 28,149,987	K158E	possibly damaging	Het
Rag2	T	G	2: 101,630,603	C419W	probably damaging	Het
Reln	A	G	5: 21,988,776	S1395P	probably damaging	Het
Retnlb	T	G	16: 48,818,659	Y74*	probably null	Het
Robo3	A	G	9: 37,422,640	S633P	probably damaging	Het
Ryr1	A	G	7: 29,040,679	S3941P	probably damaging	Het
Scnn1b	A	G	7: 121,912,475	N370S	probably damaging	Het
Slc6a5	C	A	7: 49,938,408		probably benign	Het
Sort1	T	A	3: 108,344,931	N481K	probably benign	Het
Sptlc3	T	A	2: 139,596,037	I417K	possibly damaging	Het
Svil	T	A	18: 5,099,063		probably benign	Het
Taf4b	T	C	18: 14,813,077		probably benign	Het
Tchp	T	C	5: 114,709,333	M71T	possibly damaging	Het
Thsd4	T	A	9: 59,997,134	H233L	probably benign	Het
Tmem217	G	T	17: 29,526,599	N52K	possibly damaging	Het
Tmem38b	T	C	4: 53,840,765	L60S	probably damaging	Het
Uqcrfs1	A	C	13: 30,541,163	N131K	probably benign	Het
Vars	T	A	17: 35,013,869	S896R	probably benign	Het
Vmn1r170	A	T	7: 23,606,481	M103L	probably benign	Het
Vmn2r22	T	C	6: 123,637,404	Y409C	probably damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Wdr49	A	T	3: 75,451,796	I8N	possibly damaging	Het
Zfp648	T	A	1: 154,204,886	Y264N	probably damaging	Het
Zmym1	A	C	4: 127,048,025	F857V	possibly 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
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
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'- AGTACACGGTGCAGGAAAATGTCC -3'
(R):5'- TTTTGCTGCCGCAAAACCTGAG -3'

Sequencing Primer
(F):5'- ATGTCCTTGTAGACGTAAGTCC -3'
(R):5'- CTGAGCATTGCCAGGAAAC -3'

Posted On

2013-05-09