Mutagenetix > Incidental Mutation

Incidental Mutation 'R6981:Kcnb2'

542644

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6981 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15287254-15723750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15710256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 451 (S451P)

Ref Sequence

ENSEMBL: ENSMUSP00000135382 (fasta)

Gene Model

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

AlphaFold

A6H8H5

Predicted Effect

probably damaging
Transcript: ENSMUST00000170146
AA Change: S451P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000175681
AA Change: S451P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: S451P

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	A	11: 58,293,718		probably benign	Het
5031439G07Rik	A	C	15: 84,949,597	Y419*	probably null	Het
Abca2	T	A	2: 25,444,139	F1809L	probably damaging	Het
Ache	C	T	5: 137,291,678	T423I	probably benign	Het
Acvrl1	A	G	15: 101,138,345	T395A	probably damaging	Het
Ap3b2	A	G	7: 81,477,993	I145T	probably damaging	Het
Arhgef4	A	C	1: 34,722,452	Q263P	unknown	Het
Asgr2	C	T	11: 70,096,810	L45F	probably damaging	Het
Baiap2l1	T	A	5: 144,285,579	Y122F	possibly damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Car8	A	T	4: 8,185,650		probably null	Het
Carns1	T	C	19: 4,170,082	T385A	probably benign	Het
Ccdc47	T	C	11: 106,202,737	T41A	probably benign	Het
Ccne1	A	T	7: 38,098,573		probably benign	Het
Cdh4	C	T	2: 179,797,504	T148I	probably benign	Het
Cep85	C	T	4: 134,152,261	R392Q	probably damaging	Het
Ces1h	T	C	8: 93,353,495	T464A	unknown	Het
Cfl1	T	A	19: 5,492,616	S41R	possibly damaging	Het
Crnn	T	C	3: 93,148,135	V76A	probably damaging	Het
Cspg4	A	G	9: 56,887,101	T707A	probably benign	Het
Dgkh	A	T	14: 78,627,742	C53*	probably null	Het
Dhx34	G	T	7: 16,215,330	A391E	possibly damaging	Het
Dlx1	C	A	2: 71,532,353	N201K	probably benign	Het
Dnah6	T	C	6: 73,021,178	E4087G	probably benign	Het
Dock6	T	C	9: 21,845,550	Y134C	probably damaging	Het
Duox2	A	G	2: 122,291,227	V662A	possibly damaging	Het
Dusp12	A	G	1: 170,880,961	F12L	probably damaging	Het
Eppk1	T	C	15: 76,111,037	E548G	probably benign	Het
Foxj2	A	G	6: 122,828,444	I92V	probably damaging	Het
Foxj2	A	G	6: 122,842,839	D562G	probably benign	Het
Gm17728	A	G	17: 9,422,159	R34G	probably damaging	Het
Gpc6	T	C	14: 117,624,548	I292T	probably damaging	Het
Gpr15	T	A	16: 58,718,185	K180N	probably benign	Het
Gtf2ird1	G	T	5: 134,383,922		probably benign	Het
Hist1h2ah	A	G	13: 22,035,549	S2P	probably benign	Het
Hps3	T	A	3: 20,022,820	T393S	probably damaging	Het
Hspa1a	A	T	17: 34,970,291		probably null	Het
Hydin	A	G	8: 110,531,072	E2378G	possibly damaging	Het
Ighv1-18	A	G	12: 114,682,678	L102P	probably damaging	Het
Itga5	T	A	15: 103,350,226	N814I	probably benign	Het
Klhl32	T	G	4: 24,709,030	I112L	probably damaging	Het
Knstrn	T	G	2: 118,834,094	I47R	possibly damaging	Het
Med23	T	A	10: 24,895,824	S581T	possibly damaging	Het
Mgat5	C	T	1: 127,390,851	T361I	probably damaging	Het
Nipal3	A	G	4: 135,479,547	V112A	probably damaging	Het
Olfr1287	T	C	2: 111,449,352	F71L	probably benign	Het
Olfr1359	A	G	13: 21,703,073	E24G	probably benign	Het
Olfr713	T	A	7: 107,036,749	V198D	possibly damaging	Het
Olfr996	A	G	2: 85,579,481	M81V	probably benign	Het
Paxip1	G	A	5: 27,765,768	Q528*	probably null	Het
Proser2	T	C	2: 6,113,990	D14G	probably damaging	Het
Rp1	T	G	1: 4,345,655	I1745L	probably benign	Het
Rxfp2	G	T	5: 150,048,848		probably null	Het
Slc45a1	T	C	4: 150,638,594	S278G	possibly damaging	Het
Smurf1	A	G	5: 144,886,369	I455T	possibly damaging	Het
Speg	T	C	1: 75,430,913	L3188P	probably damaging	Het
Tcaf3	G	T	6: 42,597,125	A51D	probably damaging	Het
Tecrl	T	C	5: 83,354,921	N12S	possibly damaging	Het
Tmem17	T	A	11: 22,518,508	I149N	possibly damaging	Het
Tmem171	A	G	13: 98,692,468	V58A	possibly damaging	Het
Ttn	A	G	2: 76,861,177		probably benign	Het
Ubqln5	A	G	7: 104,128,601	S339P	probably benign	Het
Vmn1r16	T	A	6: 57,323,488	I50L	probably benign	Het
Vmn2r103	A	T	17: 19,793,477	Y177F	probably benign	Het
Zfp28	C	A	7: 6,394,693	T709K	probably damaging	Het
Zfp958	A	G	8: 4,626,170	N46S	probably benign	Het
Zyx	T	A	6: 42,350,357	V30E	unknown	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
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
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'- TGGGCTACGGTGACATTTACC -3'
(R):5'- ACCTCCTGGTACTTATTCTCGTAAG -3'

Sequencing Primer
(F):5'- GGCTACGGTGACATTTACCCTAAAAC -3'
(R):5'- AAGATTTGTTGGAGCTCGTTTCTGAC -3'

Posted On

2018-11-28