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

9630047L19Rik, Kv2.2

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

15287254-15723750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15710299 bp (GRCm38)

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
1110051M20Rik	T	C	2: 91,281,754	Q250R	probably benign	Het
1810062G17Rik	T	C	3: 36,476,207	S25P	unknown	Het
4921539E11Rik	A	G	4: 103,235,481	I268T	unknown	Het
4930507D05Rik	T	A	10: 62,449,802	C102S	unknown	Het
Abca14	T	A	7: 120,289,516	Y1228*	probably null	Het
Abca17	T	C	17: 24,298,960	I792V	probably benign	Het
Abca6	C	A	11: 110,211,763	L878F	probably benign	Het
Adk	C	A	14: 21,076,318	T4N	probably benign	Het
Atg2b	A	T	12: 105,644,881	F1264I	probably damaging	Het
Atl3	T	G	19: 7,530,556	S358A	probably benign	Het
Atp8a2	T	A	14: 60,033,738	Y248F	probably damaging	Het
Bcas3	T	C	11: 85,583,923	V785A	probably damaging	Het
Cckar	C	T	5: 53,702,859		probably null	Het
Cdc42se2	A	G	11: 54,723,591	F47L	probably benign	Het
Cfap58	T	C	19: 47,975,553	L540P	probably damaging	Het
Copg1	A	G	6: 87,891,975	E117G	probably benign	Het
Cul2	C	T	18: 3,431,560	T655M	probably damaging	Het
Ddi2	T	C	4: 141,685,118	Q161R	probably benign	Het
Dffb	T	C	4: 153,974,664	Y52C	probably damaging	Het
Dll1	T	C	17: 15,370,936	Q249R	probably benign	Het
Dnmt3a	T	A	12: 3,907,701	I894N	probably damaging	Het
Fam109b	C	G	15: 82,343,334	A18G	probably damaging	Het
Fam109b	G	T	15: 82,343,336	D19Y	probably damaging	Het
Fshr	G	A	17: 88,985,837	T471I	probably damaging	Het
Gabpb1	C	T	2: 126,658,568	V4I	probably benign	Het
Gbp9	T	C	5: 105,083,676	Q348R	probably damaging	Het
Gm14124	T	A	2: 150,268,385	C332S	possibly damaging	Het
Gm21149	G	A	5: 15,472,112	S248F	unknown	Het
Gm21885	G	A	11: 94,284,734	S65N	probably benign	Het
Gpr152	C	A	19: 4,142,641	H60Q	probably benign	Het
Hdac9	A	G	12: 34,312,603	S612P	probably benign	Het
Hhipl2	A	G	1: 183,418,816	D102G	possibly damaging	Het
Hspa9	A	G	18: 34,940,241	V530A	possibly damaging	Het
Igfbp7	T	C	5: 77,401,537	N173S	unknown	Het
Ighv1-75	A	G	12: 115,834,171	S44P	possibly damaging	Het
Iqgap3	C	A	3: 88,108,869	F986L	probably damaging	Het
Itgax	G	T	7: 128,136,328	G523W	probably damaging	Het
Itih3	A	G	14: 30,915,630		probably null	Het
Kmt2b	A	G	7: 30,579,803	V1478A	probably damaging	Het
Ky	A	T	9: 102,542,212	I473F	probably damaging	Het
Lbr	A	G	1: 181,838,469	V25A	probably damaging	Het
Ldlr	A	G	9: 21,745,839	T751A	probably benign	Het
Lrrtm4	A	G	6: 80,809,173	E587G	probably damaging	Het
Lvrn	A	C	18: 46,873,780		probably null	Het
Mast2	A	T	4: 116,315,847	C594S	probably damaging	Het
Mast4	A	G	13: 102,774,203	V644A	probably damaging	Het
Mcm5	T	C	8: 75,115,976	Y293H	probably damaging	Het
Mthfd2	A	T	6: 83,306,683	V339E	possibly damaging	Het
Muc4	A	T	16: 32,770,270	I881F		Het
Myo7a	A	G	7: 98,094,329	S372P	possibly damaging	Het
Nbea	T	A	3: 55,786,458	K2180*	probably null	Het
Neb	T	C	2: 52,211,495	D4621G	probably damaging	Het
Nefh	C	T	11: 4,940,042	S859N	probably benign	Het
Nek2	T	A	1: 191,831,177	H384Q	possibly damaging	Het
Nfkb2	A	G	19: 46,310,343	E645G	probably benign	Het
Nin	G	T	12: 70,102,694	P47Q		Het
Nit1	C	A	1: 171,343,739	K178N	probably benign	Het
Nrap	C	A	19: 56,329,020	K1433N	probably damaging	Het
Nrap	T	C	19: 56,329,021	K1433R	probably benign	Het
Nup85	A	G	11: 115,566,637	Y55C	possibly damaging	Het
Olfr237-ps1	G	T	6: 43,153,535	V77F	possibly damaging	Het
Pde1b	A	G	15: 103,503,558	K29E	probably benign	Het
Pik3cg	A	T	12: 32,176,688	Y1067N	probably benign	Het
Pkd1l1	C	T	11: 8,849,016	G2249S	probably damaging	Het
Plppr4	T	A	3: 117,328,327	T201S	possibly damaging	Het
Polr1e	A	G	4: 45,018,678	T3A	probably benign	Het
Pou6f2	G	T	13: 18,239,804	Q129K	unknown	Het
Ppil4	T	A	10: 7,799,577	D163E	probably benign	Het
Pradc1	A	G	6: 85,447,970	F82L	probably benign	Het
Psd3	T	C	8: 67,741,762	K784R	probably null	Het
Ptgs1	C	A	2: 36,251,192	S550R	probably damaging	Het
Pxylp1	A	G	9: 96,828,977	L153P	probably damaging	Het
Rgs10	A	C	7: 128,374,005	F146C	probably damaging	Het
Rimbp2	G	A	5: 128,797,811	P239S	probably damaging	Het
Rp1	A	G	1: 4,042,032	Y1199H	unknown	Het
Rrp12	A	T	19: 41,868,792	M1181K	probably benign	Het
Rundc3b	T	C	5: 8,520,982	N279S	probably benign	Het
Sbf2	G	T	7: 110,428,307	P494Q	probably damaging	Het
Scnn1b	A	G	7: 121,910,470	T281A	probably benign	Het
Scube2	A	T	7: 109,831,764	N409K	probably damaging	Het
Serpina3m	A	C	12: 104,392,749	D340A	probably damaging	Het
Sez6	G	A	11: 77,974,295	E623K	possibly damaging	Het
Sgpp2	T	C	1: 78,390,563	I111T	probably benign	Het
Shprh	C	T	10: 11,162,830	T443I	possibly damaging	Het
Sis	T	A	3: 72,891,741	Y1726F	possibly damaging	Het
Slc17a9	T	C	2: 180,732,528	L129P	probably damaging	Het
Slc1a5	T	A	7: 16,793,804	F342I	probably benign	Het
Slc4a4	T	A	5: 89,040,346		probably null	Het
Slco3a1	T	C	7: 74,303,209	E534G	possibly damaging	Het
Smok2b	A	T	17: 13,235,165	I71F	possibly damaging	Het
Tmbim7	A	T	5: 3,661,809	H18L	probably damaging	Het
Tmem151a	A	T	19: 5,081,848	Y443*	probably null	Het
Tnks1bp1	T	G	2: 85,071,781	S1674A	probably benign	Het
Trappc11	T	A	8: 47,493,313	I1095F	probably damaging	Het
Trim11	A	G	11: 58,982,038	R183G	possibly damaging	Het
Trim29	A	G	9: 43,320,500	D348G	probably benign	Het
Ttc28	A	T	5: 111,285,771	S2224C	probably damaging	Het
Vps13d	C	T	4: 145,149,345	V1537M		Het
Zfp184	A	G	13: 21,959,495	D457G	possibly damaging	Het
Znrd1as	A	T	17: 36,964,357	R7S	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
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
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
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'- AGGAGTCCTGGTTATTGCCC -3'
(R):5'- AGCTTCTGGGCACTCAGATG -3'

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

Posted On

2022-10-06