Mutagenetix > Incidental Mutation

Incidental Mutation 'R9709:Kcnb2'

729932

Institutional Source

Beutler Lab

Gene Symbol

Kcnb2

Ensembl Gene

ENSMUSG00000092083

Gene Name

potassium voltage gated channel, Shab-related subfamily, member 2

Synonyms

Kv2.2, 9630047L19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9709 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15357478-15793974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15780523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 465 (I465T)

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: I465T

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000175681
AA Change: I465T

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: I465T

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: 99.5%
20x: 98.3%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,530,356 (GRCm39)	S25P	unknown	Het
4921539E11Rik	A	G	4: 103,092,678 (GRCm39)	I268T	unknown	Het
4930507D05Rik	T	A	10: 62,285,581 (GRCm39)	C102S	unknown	Het
Abca14	T	A	7: 119,888,739 (GRCm39)	Y1228*	probably null	Het
Abca17	T	C	17: 24,517,934 (GRCm39)	I792V	probably benign	Het
Abca6	C	A	11: 110,102,589 (GRCm39)	L878F	probably benign	Het
Adk	C	A	14: 21,126,386 (GRCm39)	T4N	probably benign	Het
Ankrd40cl	G	A	11: 94,175,560 (GRCm39)	S65N	probably benign	Het
Atg2b	A	T	12: 105,611,140 (GRCm39)	F1264I	probably damaging	Het
Atl3	T	G	19: 7,507,921 (GRCm39)	S358A	probably benign	Het
Atp8a2	T	A	14: 60,271,187 (GRCm39)	Y248F	probably damaging	Het
Bcas3	T	C	11: 85,474,749 (GRCm39)	V785A	probably damaging	Het
Cckar	C	T	5: 53,860,201 (GRCm39)		probably null	Het
Cdc42se2	A	G	11: 54,614,417 (GRCm39)	F47L	probably benign	Het
Cfap58	T	C	19: 47,963,992 (GRCm39)	L540P	probably damaging	Het
Copg1	A	G	6: 87,868,957 (GRCm39)	E117G	probably benign	Het
Cstpp1	T	C	2: 91,112,099 (GRCm39)	Q250R	probably benign	Het
Cul2	C	T	18: 3,431,560 (GRCm39)	T655M	probably damaging	Het
Ddi2	T	C	4: 141,412,429 (GRCm39)	Q161R	probably benign	Het
Dffb	T	C	4: 154,059,121 (GRCm39)	Y52C	probably damaging	Het
Dll1	T	C	17: 15,591,198 (GRCm39)	Q249R	probably benign	Het
Dnmt3a	T	A	12: 3,957,701 (GRCm39)	I894N	probably damaging	Het
Fshr	G	A	17: 89,293,265 (GRCm39)	T471I	probably damaging	Het
Gabpb1	C	T	2: 126,500,488 (GRCm39)	V4I	probably benign	Het
Gbp9	T	C	5: 105,231,542 (GRCm39)	Q348R	probably damaging	Het
Gm21149	G	A	5: 15,677,110 (GRCm39)	S248F	unknown	Het
Gpr152	C	A	19: 4,192,640 (GRCm39)	H60Q	probably benign	Het
Hdac9	A	G	12: 34,362,602 (GRCm39)	S612P	probably benign	Het
Hhipl2	A	G	1: 183,199,747 (GRCm39)	D102G	possibly damaging	Het
Hspa9	A	G	18: 35,073,294 (GRCm39)	V530A	possibly damaging	Het
Igfbp7	T	C	5: 77,549,384 (GRCm39)	N173S	unknown	Het
Ighv1-75	A	G	12: 115,797,791 (GRCm39)	S44P	possibly damaging	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Itgax	G	T	7: 127,735,500 (GRCm39)	G523W	probably damaging	Het
Itih3	A	G	14: 30,637,587 (GRCm39)		probably null	Het
Kmt2b	A	G	7: 30,279,228 (GRCm39)	V1478A	probably damaging	Het
Ky	A	T	9: 102,419,411 (GRCm39)	I473F	probably damaging	Het
Lbr	A	G	1: 181,666,034 (GRCm39)	V25A	probably damaging	Het
Ldlr	A	G	9: 21,657,135 (GRCm39)	T751A	probably benign	Het
Lrrtm4	A	G	6: 80,786,154 (GRCm39)	E587G	probably damaging	Het
Lvrn	A	C	18: 47,006,847 (GRCm39)		probably null	Het
Mast2	A	T	4: 116,173,044 (GRCm39)	C594S	probably damaging	Het
Mast4	A	G	13: 102,910,711 (GRCm39)	V644A	probably damaging	Het
Mcm5	T	C	8: 75,842,604 (GRCm39)	Y293H	probably damaging	Het
Mthfd2	A	T	6: 83,283,665 (GRCm39)	V339E	possibly damaging	Het
Muc4	A	T	16: 32,590,644 (GRCm39)	I881F		Het
Myo7a	A	G	7: 97,743,536 (GRCm39)	S372P	possibly damaging	Het
Nbea	T	A	3: 55,693,879 (GRCm39)	K2180*	probably null	Het
Neb	T	C	2: 52,101,507 (GRCm39)	D4621G	probably damaging	Het
Nefh	C	T	11: 4,890,042 (GRCm39)	S859N	probably benign	Het
Nek2	T	A	1: 191,563,289 (GRCm39)	H384Q	possibly damaging	Het
Nfkb2	A	G	19: 46,298,782 (GRCm39)	E645G	probably benign	Het
Nin	G	T	12: 70,149,468 (GRCm39)	P47Q		Het
Nit1	C	A	1: 171,171,307 (GRCm39)	K178N	probably benign	Het
Nrap	C	A	19: 56,317,452 (GRCm39)	K1433N	probably damaging	Het
Nrap	T	C	19: 56,317,453 (GRCm39)	K1433R	probably benign	Het
Nup85	A	G	11: 115,457,463 (GRCm39)	Y55C	possibly damaging	Het
Or2a14	G	T	6: 43,130,469 (GRCm39)	V77F	possibly damaging	Het
Pde1b	A	G	15: 103,411,985 (GRCm39)	K29E	probably benign	Het
Pheta2	G	T	15: 82,227,537 (GRCm39)	D19Y	probably damaging	Het
Pheta2	C	G	15: 82,227,535 (GRCm39)	A18G	probably damaging	Het
Pik3cg	A	T	12: 32,226,687 (GRCm39)	Y1067N	probably benign	Het
Pkd1l1	C	T	11: 8,799,016 (GRCm39)	G2249S	probably damaging	Het
Plppr4	T	A	3: 117,121,976 (GRCm39)	T201S	possibly damaging	Het
Polr1e	A	G	4: 45,018,678 (GRCm39)	T3A	probably benign	Het
Polr1has	A	T	17: 37,275,249 (GRCm39)	R7S	probably benign	Het
Pou6f2	G	T	13: 18,414,389 (GRCm39)	Q129K	unknown	Het
Ppil4	T	A	10: 7,675,341 (GRCm39)	D163E	probably benign	Het
Pradc1	A	G	6: 85,424,952 (GRCm39)	F82L	probably benign	Het
Psd3	T	C	8: 68,194,414 (GRCm39)	K784R	probably null	Het
Ptgs1	C	A	2: 36,141,204 (GRCm39)	S550R	probably damaging	Het
Pxylp1	A	G	9: 96,711,030 (GRCm39)	L153P	probably damaging	Het
Rgs10	A	C	7: 127,975,729 (GRCm39)	F146C	probably damaging	Het
Rimbp2	G	A	5: 128,874,875 (GRCm39)	P239S	probably damaging	Het
Rp1	A	G	1: 4,112,255 (GRCm39)	Y1199H	unknown	Het
Rrp12	A	T	19: 41,857,231 (GRCm39)	M1181K	probably benign	Het
Rundc3b	T	C	5: 8,570,982 (GRCm39)	N279S	probably benign	Het
Sbf2	G	T	7: 110,027,514 (GRCm39)	P494Q	probably damaging	Het
Scnn1b	A	G	7: 121,509,693 (GRCm39)	T281A	probably benign	Het
Scube2	A	T	7: 109,430,971 (GRCm39)	N409K	probably damaging	Het
Serpina3m	A	C	12: 104,359,008 (GRCm39)	D340A	probably damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sgpp2	T	C	1: 78,367,200 (GRCm39)	I111T	probably benign	Het
Shprh	C	T	10: 11,038,574 (GRCm39)	T443I	possibly damaging	Het
Sis	T	A	3: 72,799,074 (GRCm39)	Y1726F	possibly damaging	Het
Slc17a9	T	C	2: 180,374,321 (GRCm39)	L129P	probably damaging	Het
Slc1a5	T	A	7: 16,527,729 (GRCm39)	F342I	probably benign	Het
Slc4a4	T	A	5: 89,188,205 (GRCm39)		probably null	Het
Slco3a1	T	C	7: 73,952,957 (GRCm39)	E534G	possibly damaging	Het
Smok2b	A	T	17: 13,454,052 (GRCm39)	I71F	possibly damaging	Het
Tmbim7	A	T	5: 3,711,809 (GRCm39)	H18L	probably damaging	Het
Tmem151a	A	T	19: 5,131,876 (GRCm39)	Y443*	probably null	Het
Tnks1bp1	T	G	2: 84,902,125 (GRCm39)	S1674A	probably benign	Het
Trappc11	T	A	8: 47,946,348 (GRCm39)	I1095F	probably damaging	Het
Trim11	A	G	11: 58,872,864 (GRCm39)	R183G	possibly damaging	Het
Trim29	A	G	9: 43,231,797 (GRCm39)	D348G	probably benign	Het
Ttc28	A	T	5: 111,433,637 (GRCm39)	S2224C	probably damaging	Het
Vps13d	C	T	4: 144,875,915 (GRCm39)	V1537M		Het
Zfp1005	T	A	2: 150,110,305 (GRCm39)	C332S	possibly damaging	Het
Zfp184	A	G	13: 22,143,665 (GRCm39)	D457G	possibly damaging	Het

Other mutations in Kcnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Kcnb2	APN	1	15,781,236 (GRCm39)	missense	probably benign	0.02
IGL01321:Kcnb2	APN	1	15,383,147 (GRCm39)	missense	probably benign	0.09
IGL01353:Kcnb2	APN	1	15,781,048 (GRCm39)	missense	probably benign	0.02
IGL01990:Kcnb2	APN	1	15,383,178 (GRCm39)	missense	probably benign	0.19
IGL02008:Kcnb2	APN	1	15,781,033 (GRCm39)	missense	probably benign	0.00
IGL02120:Kcnb2	APN	1	15,780,085 (GRCm39)	missense	probably damaging	0.98
IGL02370:Kcnb2	APN	1	15,781,159 (GRCm39)	missense	probably benign
IGL02526:Kcnb2	APN	1	15,780,979 (GRCm39)	missense	probably damaging	1.00
IGL02859:Kcnb2	APN	1	15,780,730 (GRCm39)	missense	probably damaging	1.00
IGL03039:Kcnb2	APN	1	15,781,435 (GRCm39)	missense	probably benign
IGL03144:Kcnb2	APN	1	15,780,112 (GRCm39)	missense	probably damaging	1.00
F5770:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
PIT4131001:Kcnb2	UTSW	1	15,383,200 (GRCm39)	missense	possibly damaging	0.92
R0266:Kcnb2	UTSW	1	15,783,137 (GRCm39)	unclassified	probably benign
R0538:Kcnb2	UTSW	1	15,783,108 (GRCm39)	unclassified	probably benign
R0611:Kcnb2	UTSW	1	15,780,664 (GRCm39)	missense	probably benign	0.07
R1542:Kcnb2	UTSW	1	15,781,012 (GRCm39)	missense	probably benign	0.01
R1732:Kcnb2	UTSW	1	15,779,979 (GRCm39)	missense	probably benign	0.02
R1995:Kcnb2	UTSW	1	15,779,990 (GRCm39)	missense	possibly damaging	0.66
R2166:Kcnb2	UTSW	1	15,781,540 (GRCm39)	missense	possibly damaging	0.82
R2444:Kcnb2	UTSW	1	15,779,791 (GRCm39)	missense	probably benign
R3025:Kcnb2	UTSW	1	15,781,059 (GRCm39)	missense	possibly damaging	0.87
R3886:Kcnb2	UTSW	1	15,780,639 (GRCm39)	missense	probably damaging	1.00
R5010:Kcnb2	UTSW	1	15,383,186 (GRCm39)	missense	probably benign	0.09
R5039:Kcnb2	UTSW	1	15,779,724 (GRCm39)	missense	probably damaging	1.00
R5096:Kcnb2	UTSW	1	15,781,068 (GRCm39)	missense	probably benign	0.45
R5444:Kcnb2	UTSW	1	15,781,716 (GRCm39)	missense	probably benign
R5926:Kcnb2	UTSW	1	15,383,235 (GRCm39)	missense	probably benign	0.01
R6010:Kcnb2	UTSW	1	15,780,790 (GRCm39)	missense	possibly damaging	0.85
R6371:Kcnb2	UTSW	1	15,781,436 (GRCm39)	missense	probably benign
R6724:Kcnb2	UTSW	1	15,780,664 (GRCm39)	missense	probably damaging	1.00
R6981:Kcnb2	UTSW	1	15,780,480 (GRCm39)	missense	probably damaging	1.00
R7043:Kcnb2	UTSW	1	15,383,150 (GRCm39)	missense	probably benign
R7352:Kcnb2	UTSW	1	15,780,835 (GRCm39)	missense	probably benign
R7419:Kcnb2	UTSW	1	15,781,251 (GRCm39)	missense	possibly damaging	0.94
R7425:Kcnb2	UTSW	1	15,780,031 (GRCm39)	missense	probably damaging	1.00
R7606:Kcnb2	UTSW	1	15,383,064 (GRCm39)	missense	probably damaging	1.00
R7978:Kcnb2	UTSW	1	15,780,837 (GRCm39)	missense	probably benign	0.15
R7983:Kcnb2	UTSW	1	15,383,004 (GRCm39)	missense	probably damaging	0.98
R8115:Kcnb2	UTSW	1	15,781,851 (GRCm39)	makesense	probably null
R8156:Kcnb2	UTSW	1	15,780,280 (GRCm39)	missense	probably damaging	1.00
R8408:Kcnb2	UTSW	1	15,781,777 (GRCm39)	missense	probably damaging	1.00
R8439:Kcnb2	UTSW	1	15,382,934 (GRCm39)	missense	probably damaging	1.00
R8726:Kcnb2	UTSW	1	15,780,876 (GRCm39)	missense	probably benign	0.00
R8738:Kcnb2	UTSW	1	15,780,648 (GRCm39)	missense	probably benign	0.07
R9274:Kcnb2	UTSW	1	15,781,723 (GRCm39)	missense	probably benign
R9321:Kcnb2	UTSW	1	15,779,793 (GRCm39)	missense	possibly damaging	0.46
R9563:Kcnb2	UTSW	1	15,779,737 (GRCm39)	missense	probably damaging	1.00
R9633:Kcnb2	UTSW	1	15,781,444 (GRCm39)	missense	probably benign
V7580:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
V7581:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
V7582:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
V7583:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
Z1088:Kcnb2	UTSW	1	15,781,252 (GRCm39)	missense	probably benign	0.01
Z1088:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.03
Z1177:Kcnb2	UTSW	1	15,781,182 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGGAGTCCTGGTTATTGCCC -3'
(R):5'- AGCTTCTGGGCACTCAGATG -3'

Sequencing Primer
(F):5'- CTTCCTATACCCATCATTGTGAAC -3'
(R):5'- CTGGGCACTCAGATGCTGTG -3'

Posted On

2022-10-06