Mutagenetix > Incidental Mutation

Incidental Mutation 'R8726:Kcnb2'

662396

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 #

R8726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15287254-15723750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 15710652 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 583 (Q583K)

Ref Sequence

ENSEMBL: ENSMUSP00000126656 (fasta)

Gene Model

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

AlphaFold

A6H8H5

Predicted Effect

probably benign
Transcript: ENSMUST00000170146
AA Change: Q583K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000175681
AA Change: Q583K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: Q583K

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

0.1040

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	A	G	11: 69,898,381	S331P	possibly damaging	Het
4930433I11Rik	A	G	7: 40,994,802	M632V	probably benign	Het
9930111J21Rik2	A	C	11: 49,019,680	V642G	probably damaging	Het
Abcd4	A	T	12: 84,604,397		probably benign	Het
Acsbg1	T	C	9: 54,618,178	E363G	probably damaging	Het
Ank3	T	A	10: 69,987,254	H584Q		Het
Ankrd11	A	T	8: 122,894,026	L1029Q	possibly damaging	Het
Anpep	C	T	7: 79,840,893	V292I	probably benign	Het
Atmin	G	A	8: 116,954,786	D175N	possibly damaging	Het
B4galt6	T	C	18: 20,688,393	I359M	possibly damaging	Het
Bicd2	A	G	13: 49,379,429	D497G	probably damaging	Het
Calcr	C	T	6: 3,707,489		probably benign	Het
Camkk2	G	T	5: 122,743,939	D418E	probably benign	Het
Cntn3	A	T	6: 102,169,053	Y942*	probably null	Het
Col8a1	C	T	16: 57,628,775	R124H	probably damaging	Het
Coro7	T	C	16: 4,668,755	T185A	possibly damaging	Het
Creb3	C	T	4: 43,566,747	P364S	probably benign	Het
Csf1r	A	T	18: 61,117,656	T480S	probably benign	Het
Csnk1g1	T	A	9: 66,002,271	H223Q	probably damaging	Het
Ctns	C	T	11: 73,187,787	V171M	probably benign	Het
Dhx15	A	T	5: 52,154,226	N637K	probably benign	Het
Eif4g1	T	C	16: 20,675,482	Y103H	probably damaging	Het
Eif4g2	C	T	7: 111,077,422	R295H	probably damaging	Het
Fam126b	T	C	1: 58,546,126	T171A	possibly damaging	Het
Fat1	C	T	8: 45,024,169	P2084L	probably benign	Het
Fat4	A	G	3: 39,010,498	R4868G	probably damaging	Het
Fbxo31	A	T	8: 121,555,275	Y295*	probably null	Het
Fmn2	C	A	1: 174,609,838	T1125N	possibly damaging	Het
Foxi2	C	A	7: 135,410,404	P7Q	probably damaging	Het
Hmx1	C	T	5: 35,391,756	P131L	probably damaging	Het
Hrh2	T	C	13: 54,214,152	L49P	probably damaging	Het
Igkv6-14	A	G	6: 70,435,141	V53A	possibly damaging	Het
Kcns3	A	G	12: 11,091,691	S336P	probably damaging	Het
Kremen2	G	T	17: 23,742,746	F262L	probably damaging	Het
Krtap9-1	T	A	11: 99,873,751	C104*	probably null	Het
Ky	A	G	9: 102,527,903	Y199C	probably damaging	Het
L1td1	T	G	4: 98,733,978	L259R	probably damaging	Het
Lrba	A	G	3: 86,353,755	T1473A	probably benign	Het
Lrp6	A	T	6: 134,507,661	L333*	probably null	Het
Lrrc23	T	C	6: 124,776,080	N201S	probably benign	Het
Map4k4	C	A	1: 40,003,982	P666T	possibly damaging	Het
Matn1	T	A	4: 130,952,203	D389E	probably damaging	Het
Mdc1	G	T	17: 35,847,583	G285V	probably benign	Het
Mettl17	T	C	14: 51,890,730		probably null	Het
Mknk1	A	T	4: 115,873,309		probably benign	Het
Neurod1	A	T	2: 79,454,086	F318I	possibly damaging	Het
Nfya	T	C	17: 48,392,417	T213A	probably damaging	Het
Nmrk1	C	T	19: 18,639,538	T17M	probably damaging	Het
Ntrk1	A	C	3: 87,786,089	D245E	probably benign	Het
Nup160	C	A	2: 90,733,201	H1370Q	possibly damaging	Het
Olfr1151	T	C	2: 87,857,817	V214A	probably benign	Het
Olfr745	A	C	14: 50,643,246	K316Q	probably benign	Het
Olfr986	T	A	9: 40,187,367	V84E	probably damaging	Het
Parp4	G	A	14: 56,629,099	R1040H	probably benign	Het
Pdia4	C	A	6: 47,808,266	E56*	probably null	Het
Pdia5	A	G	16: 35,449,414	F175S	probably damaging	Het
Piezo2	C	T	18: 63,109,885	S621N	probably benign	Het
Pigw	T	C	11: 84,877,817	T229A	possibly damaging	Het
Rasa3	T	C	8: 13,576,381	Y734C	probably benign	Het
Rfx7	T	A	9: 72,593,223		probably benign	Het
Rims1	T	C	1: 22,594,100	D178G	possibly damaging	Het
Ros1	A	G	10: 52,078,673	V1853A	possibly damaging	Het
Rps7	A	G	12: 28,631,715	I139T	probably benign	Het
Sall3	T	C	18: 80,986,493	D15G	possibly damaging	Het
Scn1a	A	T	2: 66,303,639	V137D	probably benign	Het
Slc23a3	G	A	1: 75,129,529	P349S	probably benign	Het
Slc35a5	C	G	16: 45,143,658	R404P	probably damaging	Het
Stard13	A	T	5: 151,063,142	M301K	probably benign	Het
Suclg2	A	G	6: 95,655,508	F60S	probably damaging	Het
Tecpr2	T	A	12: 110,938,234	F887L	possibly damaging	Het
Tekt4	G	T	17: 25,472,059	W113L	probably damaging	Het
Tep1	G	A	14: 50,847,623	S901F	probably damaging	Het
Tex11	C	T	X: 101,015,585	V190I	possibly damaging	Het
Thbs1	T	A	2: 118,119,476		probably null	Het
Tm9sf4	T	A	2: 153,198,375	V425D	probably damaging	Het
Tpo	A	G	12: 30,055,138	L911P	possibly damaging	Het
Ttn	T	C	2: 76,898,957	Q5332R	unknown	Het
Wdr59	A	T	8: 111,496,834	D169E		Het
Zfp799	C	A	17: 32,820,192	G367C	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
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
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'- ATGACTCCCACGAACATCTG -3'
(R):5'- TGTAAGGAATGGAGGTGCCC -3'

Sequencing Primer
(F):5'- GAACATCTGAACAATACTTCTTCCTC -3'
(R):5'- AATGGAGGTGCCCTGGCTC -3'

Posted On

2021-03-08