Mutagenetix > Incidental Mutation

Incidental Mutation 'R9563:Kcnb2'

721170

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 #

R9563 (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 15709513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 203 (I203N)

Ref Sequence

ENSEMBL: ENSMUSP00000126656 (fasta)

Gene Model

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

AlphaFold

A6H8H5

Predicted Effect

probably damaging
Transcript: ENSMUST00000170146
AA Change: I203N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000175681
AA Change: I203N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: I203N

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: 99.6%
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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	G	15: 8,187,079	L594V	probably benign	Het
9130409I23Rik	G	T	1: 181,055,245	V191F	possibly damaging	Het
A2m	T	A	6: 121,668,050	D953E	probably damaging	Het
Acod1	A	C	14: 103,049,673	Y80S	probably damaging	Het
Actr5	A	G	2: 158,628,215	D255G	probably damaging	Het
Akna	A	G	4: 63,394,707	V393A	probably damaging	Het
Amotl1	T	C	9: 14,562,217	K562R	possibly damaging	Het
Amz1	T	A	5: 140,752,378	D464E	probably damaging	Het
Anapc1	G	A	2: 128,664,060	Q619*	probably null	Het
Arfgef3	C	T	10: 18,646,527	G584R	probably damaging	Het
Armt1	AC	A	10: 4,450,848		probably null	Het
Atr	G	C	9: 95,920,780	V1832L	probably damaging	Het
Bsn	T	C	9: 108,107,417	D374G		Het
Cap1	A	G	4: 122,864,712	V225A	probably benign	Het
Cc2d1a	A	G	8: 84,137,129	S562P	probably benign	Het
Ccdc30	T	C	4: 119,393,624	N141S	possibly damaging	Het
Cdc42bpb	A	G	12: 111,299,328	V1390A	possibly damaging	Het
Cdc42ep1	A	T	15: 78,849,582	H294L	probably benign	Het
Col6a6	C	A	9: 105,695,753	G2185C	probably benign	Het
Col7a1	T	C	9: 108,962,741	V1232A	unknown	Het
Copb1	A	G	7: 114,236,799	I449T	possibly damaging	Het
Ctdsp2	A	G	10: 126,996,171	D216G	probably damaging	Het
Cttnbp2	T	A	6: 18,367,383	K1645N	probably benign	Het
Cttnbp2	A	T	6: 18,427,468	L738*	probably null	Het
Cul9	T	A	17: 46,509,971	T1927S	probably benign	Het
Cyfip2	A	G	11: 46,260,880	C531R	probably benign	Het
Cyp2j6	A	G	4: 96,526,008	I340T	probably damaging	Het
Daam1	A	G	12: 71,945,477	E322G	unknown	Het
Dab2ip	T	A	2: 35,719,903	L710*	probably null	Het
Dph1	T	C	11: 75,185,999	T60A	possibly damaging	Het
Eme1	T	C	11: 94,650,513	D161G	probably benign	Het
Epha3	C	T	16: 63,546,147	G980D	possibly damaging	Het
Eri3	T	A	4: 117,564,816	V136E	probably benign	Het
Espl1	T	A	15: 102,319,798	I1669N	possibly damaging	Het
Exoc6	T	C	19: 37,599,623	I568T	probably damaging	Het
F3	T	A	3: 121,734,173	L85H		Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fam212a	T	A	9: 107,984,289	Y276F	probably benign	Het
Fbxw14	T	C	9: 109,277,267	Y234C	probably benign	Het
Fbxw25	T	A	9: 109,654,608	N179Y		Het
Foxr1	T	A	9: 44,440,902		probably benign	Het
Gas8	T	A	8: 123,536,440	V452E	possibly damaging	Het
Gdpd4	T	C	7: 98,000,162	V450A	probably damaging	Het
Gm17359	A	T	3: 79,449,309	M140L	probably benign	Het
Greb1	T	C	12: 16,724,823	Y191C	probably benign	Het
Haus3	G	A	5: 34,167,956	R120W	probably benign	Het
Herc1	G	T	9: 66,386,911		probably null	Het
Hist1h3i	T	C	13: 21,783,051	D107G	probably damaging	Het
Hyal2	T	C	9: 107,570,645	W166R	probably damaging	Het
Itga7	C	T	10: 128,953,800	A1003V	probably damaging	Het
Itga8	T	A	2: 12,160,408	I797F	possibly damaging	Het
Kank2	T	C	9: 21,794,556	T389A	possibly damaging	Het
Kif21b	T	A	1: 136,149,428	L396Q	probably damaging	Het
Kng1	T	G	16: 23,060,420	I78S	probably damaging	Het
Ldlrad4	T	C	18: 68,254,480	S288P	probably benign	Het
Lmntd2	A	G	7: 141,210,788	S516P		Het
Lrp1b	T	A	2: 41,295,699	I1449F		Het
Lrrk2	T	A	15: 91,749,840	I1380K	possibly damaging	Het
Lvrn	T	G	18: 46,884,439	I612S	probably damaging	Het
Lyst	T	C	13: 13,637,823	L940P	probably benign	Het
Man2a2	T	A	7: 80,356,353	M996L	probably benign	Het
Map3k3	T	A	11: 106,151,034	I413N	probably damaging	Het
Map4k5	A	G	12: 69,816,393	V629A	probably benign	Het
Mapre2	A	G	18: 23,890,924	E325G	unknown	Het
Mbnl1	A	G	3: 60,613,294	N101S	probably benign	Het
Meltf	T	A	16: 31,885,051	C199S	probably damaging	Het
Mmab	T	C	5: 114,436,789	E141G	probably benign	Het
Mtus2	T	C	5: 148,313,407	L1317P		Het
Muc6	T	A	7: 141,637,870	T2297S	possibly damaging	Het
Myom2	A	T	8: 15,108,399	K784*	probably null	Het
Nek1	A	G	8: 61,124,123	E1118G	probably benign	Het
Nrtn	A	G	17: 56,751,416	V195A	probably damaging	Het
Nsd3	G	A	8: 25,714,203	V420I		Het
Olfr1094	A	G	2: 86,828,754	M1V	probably null	Het
Olfr1451	T	A	19: 12,999,619	I211N	probably damaging	Het
Olfr205	T	C	16: 59,329,402	I36V	probably benign	Het
Olfr522	G	A	7: 140,162,320	T210I	probably damaging	Het
Olfr618	A	T	7: 103,598,018	Q234L	probably benign	Het
Olfr677	T	C	7: 105,057,074	L276P	possibly damaging	Het
Olfr820	T	C	10: 130,017,418	I19T	probably benign	Het
Olfr923	A	T	9: 38,827,718	H3L	probably benign	Het
Pde10a	G	T	17: 8,801,878	A216S	unknown	Het
Phldb2	T	C	16: 45,824,884	T400A	possibly damaging	Het
Pkd1l1	T	A	11: 8,865,502	T1920S		Het
Ptgs2	T	A	1: 150,105,668	N567K	probably benign	Het
Pwp1	T	A	10: 85,876,506	D141E	probably damaging	Het
Rab3ip	T	C	10: 116,918,763	E296G	probably null	Het
Rb1cc1	A	G	1: 6,244,115	K337R	probably benign	Het
Rbp3	A	G	14: 33,955,520	D475G	probably damaging	Het
Ric3	T	C	7: 109,038,790	E253G	possibly damaging	Het
Rictor	A	T	15: 6,768,081	N306I	possibly damaging	Het
Rnf214	A	T	9: 45,899,843	V174E	possibly damaging	Het
Robo3	A	G	9: 37,429,604	F124S	probably damaging	Het
Rrad	A	G	8: 104,628,692	F228S	probably damaging	Het
Scn3a	A	T	2: 65,461,251	M1717K	probably damaging	Het
Scn3b	A	G	9: 40,282,433	D152G	probably benign	Het
Scn5a	C	A	9: 119,486,737	R1635L	probably damaging	Het
Sec61b	A	G	4: 47,483,049	Y93C	probably damaging	Het
Shprh	T	A	10: 11,166,491	Y739*	probably null	Het
Skor2	C	T	18: 76,858,681	H33Y	unknown	Het
Slc26a7	T	C	4: 14,519,496	N508S	probably benign	Het
Slc7a12	A	G	3: 14,499,300	I349V	possibly damaging	Het
Slit1	T	C	19: 41,608,435	Y1075C	probably damaging	Het
Sltm	C	T	9: 70,573,559	A231V	unknown	Het
Smg1	A	G	7: 118,212,985	S52P	unknown	Het
Soga1	G	A	2: 157,060,262	R278C	probably damaging	Het
Sorl1	A	G	9: 42,046,597	Y584H	probably damaging	Het
Ssbp1	T	A	6: 40,478,034	S142R	probably benign	Het
Stard3	A	G	11: 98,379,971		probably null	Het
Strn3	G	T	12: 51,627,517	H531N	possibly damaging	Het
Stx17	A	G	4: 48,180,739	T195A	probably damaging	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tmed5	A	C	5: 108,132,234		probably null	Het
Tmem132a	C	T	19: 10,861,596	R494H	probably benign	Het
Tom1	A	G	8: 75,060,549	K406E	probably benign	Het
Trav5d-4	A	T	14: 53,002,016	N43Y	probably damaging	Het
Trbv19	G	T	6: 41,179,011	K105N	possibly damaging	Het
Trim34a	C	T	7: 104,261,121	Q377*	probably null	Het
Trp53bp2	T	A	1: 182,448,813	N786K	probably benign	Het
Trpc3	A	G	3: 36,651,534	M504T	probably benign	Het
Ttc28	A	T	5: 111,223,226	M545L	probably benign	Het
Uggt1	A	C	1: 36,165,546	V996G	possibly damaging	Het
Vmn2r65	G	A	7: 84,940,672	Q679*	probably null	Het
Wdfy4	T	C	14: 32,970,876	I2958V		Het
Zbtb37	C	T	1: 161,020,270	S389N	possibly damaging	Het
Zfp235	T	C	7: 24,142,244	V696A	possibly damaging	Het
Zzef1	T	A	11: 72,874,906	C1420S	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
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
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'- ACTCAGGTTCTGCCAAATTACC -3'
(R):5'- TCCATTTATTCGGTGAGGACAG -3'

Sequencing Primer
(F):5'- TTTGTAATCCTTAGGGAACTCTAGG -3'
(R):5'- CCATTTATTCGGTGAGGACAGGAATC -3'

Posted On

2022-08-09