Mutagenetix > Incidental Mutation

Incidental Mutation 'R8115:Kcnb2'

631103

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 #

R8115 (G1)

Quality Score

190.009

Status

Validated

Chromosome

Chromosomal Location

15287254-15723750 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 15711627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 908 (*908R)

Ref Sequence

ENSEMBL: ENSMUSP00000126656 (fasta)

Gene Model

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

AlphaFold

A6H8H5

Predicted Effect

probably null
Transcript: ENSMUST00000170146
AA Change: *908R

Predicted Effect

probably null
Transcript: ENSMUST00000175681
AA Change: *908R

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: *908R

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: 99.7%
3x: 99.5%
10x: 98.4%
20x: 94.2%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	T	C	4: 35,218,763	Y32C		Het
A1bg	T	G	15: 60,920,147	I211L	probably benign	Het
Abhd16b	G	A	2: 181,493,734	R143H	possibly damaging	Het
Abt1	T	C	13: 23,422,232	E184G	probably damaging	Het
Aqp1	AGG	AGGG	6: 55,345,513		probably null	Het
Asxl3	G	A	18: 22,517,585	R877Q	probably damaging	Het
B3galt1	A	G	2: 68,117,976	T12A	possibly damaging	Het
Bcat1	G	A	6: 145,010,093	P354L	probably damaging	Het
Cad	T	C	5: 31,060,927	F452L	possibly damaging	Het
Cadps2	T	A	6: 23,328,898	I973F	probably benign	Het
Cenpq	T	C	17: 40,932,829	N43D	probably damaging	Het
Chd9	G	T	8: 91,036,332	V2262L	probably damaging	Het
Cttnbp2nl	G	T	3: 105,006,086	Q161K	probably damaging	Het
D630003M21Rik	A	T	2: 158,216,590	H463Q	probably benign	Het
Defb1	C	T	8: 21,794,484	H40Y	probably benign	Het
Dmrtb1	A	T	4: 107,677,059	D186E	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Efr3a	T	A	15: 65,866,795	F758I	probably damaging	Het
Fap	A	G	2: 62,519,041	I501T	probably benign	Het
Galr3	C	T	15: 79,043,324	R322*	probably null	Het
Hrnr	C	A	3: 93,323,732	R426S	unknown	Het
Hsp90ab1	A	T	17: 45,569,275	M476K	possibly damaging	Het
Igsf3	G	T	3: 101,455,279	R872L	probably benign	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Iqsec3	T	G	6: 121,473,030	R178S	unknown	Het
Itgbl1	T	C	14: 123,857,543	C327R	probably damaging	Het
Itsn2	A	T	12: 4,673,602	Q1179L	possibly damaging	Het
Kdm5b	G	T	1: 134,619,673	W1020L	possibly damaging	Het
Kpna3	C	A	14: 61,370,918	V364L	probably damaging	Het
Lsm14a	T	C	7: 34,375,237	I93V	probably benign	Het
Mast2	A	G	4: 116,435,447	S109P	probably benign	Het
Muc4	G	A	16: 32,755,304	S1726N	unknown	Het
Myo7a	T	C	7: 98,066,446	D1477G	probably damaging	Het
Nostrin	G	A	2: 69,180,920		probably null	Het
Oasl1	T	A	5: 114,936,937	V352E	probably damaging	Het
Olfr459	T	A	6: 41,771,538	T254S	probably benign	Het
Pafah1b1	A	G	11: 74,684,493	V195A	probably damaging	Het
Pcdhb4	G	A	18: 37,309,400	V588M	probably damaging	Het
Pcsk5	A	G	19: 17,510,166		probably null	Het
Peg10	A	G	6: 4,756,707	I428V	unknown	Het
Pmfbp1	G	A	8: 109,537,037	V824M	probably damaging	Het
Prkag3	T	C	1: 74,747,959	R47G	possibly damaging	Het
Prl8a1	T	A	13: 27,574,045	H227L	probably benign	Het
Prune2	A	G	19: 17,123,924	D2264G	probably benign	Het
Psg28	A	G	7: 18,430,386	Y134H	probably benign	Het
Rab3gap2	T	A	1: 185,267,250	Y1019N	possibly damaging	Het
Rbm15	A	T	3: 107,331,650	F477L	probably damaging	Het
Ric1	A	T	19: 29,586,573	N576Y	probably damaging	Het
S1pr1	T	A	3: 115,712,649	T99S	probably benign	Het
Serpinb9b	G	T	13: 33,035,548	V153F	probably null	Het
Sh2d3c	A	G	2: 32,725,264	E122G	probably benign	Het
Slc6a11	T	A	6: 114,131,481	W69R	probably damaging	Het
Slco6c1	T	A	1: 97,072,961	I539F	probably damaging	Het
Smgc	G	T	15: 91,849,119		probably null	Het
Spata17	T	C	1: 187,117,456	Y194C	probably damaging	Het
Tap1	A	T	17: 34,193,319		probably null	Het
Topbp1	T	C	9: 103,320,541	S440P	probably benign	Het
Trpc6	T	C	9: 8,609,981	L150P	probably damaging	Het
Ttll4	C	T	1: 74,687,330	Q696*	probably null	Het
Ubash3b	C	T	9: 41,026,328	E447K	probably damaging	Het
Unc5cl	T	C	17: 48,467,410	S477P	possibly damaging	Het
Unc80	A	G	1: 66,648,913	T2357A	probably benign	Het
Vmn1r58	A	T	7: 5,410,342	S296R	probably benign	Het
Vmn2r85	G	T	10: 130,425,951	N172K	probably benign	Het
Wdfy4	G	A	14: 33,104,115	P1193L		Het
Yipf7	T	A	5: 69,527,227	T82S	probably benign	Het
Zap70	A	G	1: 36,781,206	S523G	probably damaging	Het
Zfp354a	A	G	11: 51,069,663	T233A	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
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'- GCGATGCCAGAGACTCTTTAAG -3'
(R):5'- TTGCTCGCTATTCAGGACTC -3'

Sequencing Primer
(F):5'- TCTTTAAGAGAAGAGGGCTGTG -3'
(R):5'- TCAGGACTCGGTTTTATTTAAACAG -3'

Posted On

2020-06-30