Mutagenetix > Incidental Mutation

Incidental Mutation 'R7978:Kcnb2'

650999

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7978 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15287254-15723750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15710613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 570 (Y570N)

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: Y570N

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000175681
AA Change: Y570N

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: Y570N

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: 99.7%
20x: 98.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,888,668	I342N	probably damaging	Het
Alb	A	T	5: 90,472,073	N453I	possibly damaging	Het
Aox4	C	A	1: 58,235,207	S384Y	probably damaging	Het
Ap1g1	C	T	8: 109,837,767	R315*	probably null	Het
Cachd1	T	C	4: 100,974,863	Y741H	probably damaging	Het
Cacna2d2	C	G	9: 107,518,257	L661V	probably benign	Het
Ccdc90b	T	A	7: 92,567,713	H64Q	probably damaging	Het
Ccdc93	C	A	1: 121,499,231	N582K	possibly damaging	Het
Cdh7	A	G	1: 109,994,105		probably benign	Het
Cnksr1	T	C	4: 134,236,031	N78D	probably damaging	Het
Cttnbp2nl	A	G	3: 105,007,991	V132A	probably damaging	Het
Cwc25	G	A	11: 97,753,218	Q230*	probably null	Het
Dsel	G	A	1: 111,859,719	R1029*	probably null	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,178,361		probably benign	Het
Fam120a	T	C	13: 48,902,274	Y646C	probably damaging	Het
Hltf	T	C	3: 20,092,804	W576R	probably damaging	Het
Hmcn2	A	G	2: 31,389,347	N1787S	probably benign	Het
Ift122	A	G	6: 115,920,352	E904G	probably benign	Het
Igkv17-121	C	T	6: 68,036,822	T2I	unknown	Het
Ino80	T	G	2: 119,439,393	R590S	possibly damaging	Het
Intu	T	A	3: 40,697,639	I842N	probably damaging	Het
Itgae	A	T	11: 73,134,087	T1015S	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,411,205		probably null	Het
Kcna10	A	G	3: 107,194,347	E98G	probably damaging	Het
Kmt2c	T	C	5: 25,359,678	I923V	probably benign	Het
Kptn	A	G	7: 16,125,772	D307G	probably damaging	Het
Myo3b	T	C	2: 70,253,114	Y704H	probably damaging	Het
Olfr103	A	G	17: 37,336,501	F244L	probably benign	Het
Olfr1186	T	A	2: 88,525,670	L29*	probably null	Het
Olfr1312	T	C	2: 112,042,178	T285A	possibly damaging	Het
Olfr48	A	T	2: 89,844,267	C235*	probably null	Het
Pmel	G	A	10: 128,715,950	V218M	probably damaging	Het
Prkar2b	T	C	12: 31,963,025	H364R	possibly damaging	Het
Psd4	T	C	2: 24,404,855	F809S	probably damaging	Het
Rabgap1l	A	G	1: 160,251,268	S59P		Het
Rgr	A	G	14: 37,044,688	F134L	probably benign	Het
Rspry1	G	T	8: 94,623,125	R47L	probably damaging	Het
Scd3	G	T	19: 44,234,249	E113*	probably null	Het
Slc22a12	G	A	19: 6,536,908	A476V	possibly damaging	Het
Smg1	T	C	7: 118,193,655	E560G	unknown	Het
Snx3	A	G	10: 42,502,350	D7G	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Tbc1d12	A	G	19: 38,916,841	M667V	probably benign	Het
Tbc1d30	A	T	10: 121,306,199	V81E	probably damaging	Het
Tbc1d9	A	T	8: 83,239,954	I395F	probably damaging	Het
Tes	C	A	6: 17,096,323	N103K	probably benign	Het
Tet2	T	C	3: 133,487,665	Y336C	possibly damaging	Het
Tgfbr3	T	C	5: 107,139,860	N491S	probably damaging	Het
Tomt	T	C	7: 101,900,347	I245V	probably damaging	Het
Trbc1	T	C	6: 41,538,302	L28P		Het
Trp63	T	C	16: 25,820,686	V208A	unknown	Het
Ttll8	G	T	15: 88,915,362	N625K	probably benign	Het
Ush2a	T	A	1: 188,399,938	W786R	probably benign	Het
Vmn2r97	A	T	17: 18,947,592	I703F	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
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'- TGTCAGAAACGAGCTCCAAC -3'
(R):5'- GGGAACTTCATCTGCAAATGAGAG -3'

Sequencing Primer
(F):5'- CAAATCTTACGAGAATAAGTACCAGG -3'
(R):5'- AGGCAGAGGGTGGTGGC -3'

Posted On

2020-09-15