Mutagenetix > Incidental Mutation

Incidental Mutation 'R5444:Kcnb2'

427310

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

043009-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5444 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15287254-15723750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15711492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 863 (I863F)

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: I863F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000175681
AA Change: I863F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: I863F

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

0.0692

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (66/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	C	T	1: 105,726,384	T826I	possibly damaging	Het
4930584F24Rik	A	G	5: 26,479,737		noncoding transcript	Het
5430403G16Rik	A	T	5: 109,675,636	Y649*	probably null	Het
Adam11	A	G	11: 102,772,848	Q284R	probably damaging	Het
Adamts17	T	A	7: 67,041,899	H610Q	probably benign	Het
Alg6	A	G	4: 99,741,579	Y131C	probably benign	Het
Apol9b	T	C	15: 77,735,763	I253T	probably damaging	Het
Asb4	T	A	6: 5,431,040	I425N	probably damaging	Het
Atic	T	C	1: 71,576,717	L474P	probably damaging	Het
B3glct	C	T	5: 149,746,520	T318I	probably damaging	Het
Bbs7	T	C	3: 36,612,050	K22E	possibly damaging	Het
BC037034	A	T	5: 138,260,998		probably null	Het
Cdk17	T	G	10: 93,217,961		probably null	Het
Cemip	T	A	7: 83,982,291	T438S	probably damaging	Het
Chd2	T	C	7: 73,473,085	E967G	probably damaging	Het
Cyp2d26	G	T	15: 82,792,538	D202E	probably benign	Het
Dhdds	G	A	4: 133,971,136	R295*	probably null	Het
Eef2kmt	G	A	16: 5,249,095		probably benign	Het
Fn3krp	G	A	11: 121,421,604		probably null	Het
Gjc3	G	A	5: 137,957,547	L159F	probably damaging	Het
Gm28434	T	C	5: 87,979,288		probably benign	Het
Gp2	G	A	7: 119,454,598	P47S	possibly damaging	Het
Irf7	C	T	7: 141,264,819		probably benign	Het
Itgb8	T	C	12: 119,237,838		probably benign	Het
Lamb1	T	C	12: 31,298,909	F647L	possibly damaging	Het
Mccc1	T	A	3: 35,976,742	M392L	probably benign	Het
Mtmr10	T	C	7: 64,288,401		probably null	Het
Ncstn	A	C	1: 172,072,839	V223G	possibly damaging	Het
Neurl3	G	T	1: 36,269,490	F80L	probably damaging	Het
Nf1	T	C	11: 79,443,959	M869T	possibly damaging	Het
Nfatc2	A	G	2: 168,534,890		probably benign	Het
Nnat	T	C	2: 157,561,217	F26S	possibly damaging	Het
Nos1ap	T	C	1: 170,375,251	Y109C	probably damaging	Het
Nup205	T	A	6: 35,189,189	D194E	probably damaging	Het
Olfr1012	A	T	2: 85,759,919	F152L	probably benign	Het
Olfr1333	T	A	4: 118,830,111	I109L	probably benign	Het
Olfr1463	A	T	19: 13,234,958	Q236L	probably benign	Het
Olfr399	T	C	11: 74,053,977	S261G	probably benign	Het
Olfr552	C	T	7: 102,604,869	R172*	probably null	Het
Ostf1	A	G	19: 18,581,313	L202S	probably benign	Het
Pdzrn4	T	A	15: 92,770,925	M747K	probably damaging	Het
Plxnb1	A	G	9: 109,106,453	D1019G	probably benign	Het
Pnlip	A	G	19: 58,673,163	I95V	probably benign	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppp1r13b	T	A	12: 111,838,688	T197S	probably benign	Het
Rasgrp3	A	T	17: 75,503,375	I357F	probably damaging	Het
Rbmxl2	G	C	7: 107,209,837	G110R	probably damaging	Het
Rgs22	T	C	15: 36,015,627	D1037G	possibly damaging	Het
Rnf215	A	G	11: 4,135,843	I107M	probably benign	Het
Rybp	A	T	6: 100,287,270	M3K	probably damaging	Het
Sgo2b	T	C	8: 63,926,556	S1081G	possibly damaging	Het
Slfn10-ps	C	T	11: 83,035,287		noncoding transcript	Het
Spag17	T	C	3: 100,056,152	V1062A	probably benign	Het
Sult2a1	A	T	7: 13,836,019	I96K	possibly damaging	Het
Tbc1d5	A	G	17: 50,735,967	I831T	probably damaging	Het
Thbs3	T	C	3: 89,223,385		probably benign	Het
Tmub2	T	C	11: 102,288,240	L255S	possibly damaging	Het
Trank1	T	A	9: 111,392,958	L2921Q	probably benign	Het
Tuba8	A	T	6: 121,226,101		probably benign	Het
Vmn2r25	T	C	6: 123,828,492	I469V	probably benign	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
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'- AGGAGCTTCACTGAAATAGACAC -3'
(R):5'- AGTTCACGGCATTATTAATCGC -3'

Sequencing Primer
(F):5'- GCTTCACTGAAATAGACACTGGAG -3'
(R):5'- ACGGCATTATTAATCGCATTTTTAAG -3'

Posted On

2016-09-01