Mutagenetix > Incidental Mutation

Incidental Mutation 'R0611:Kcnb2'

54672

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

038800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15287254-15723750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15710440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 512 (Y512F)

Ref Sequence

ENSEMBL: ENSMUSP00000135382 (fasta)

Gene Model

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

AlphaFold

A6H8H5

Predicted Effect

probably benign
Transcript: ENSMUST00000170146
AA Change: Y512F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000175681
AA Change: Y512F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: Y512F

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: 99.4%
3x: 98.9%
10x: 97.5%
20x: 94.9%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 120,252,256	M819K	possibly damaging	Het
Adamtsl3	T	G	7: 82,528,912	C528G	probably damaging	Het
Akap9	A	G	5: 3,954,870	K148E	probably benign	Het
Akr1b3	A	T	6: 34,309,642	D225E	probably benign	Het
Alms1	C	A	6: 85,678,671	Q2931K	possibly damaging	Het
Ano3	T	C	2: 110,885,001	K31E	possibly damaging	Het
Cdc37	A	G	9: 21,142,241	I242T	probably damaging	Het
Celsr1	T	A	15: 85,932,323	K1806N	possibly damaging	Het
Clpb	T	A	7: 101,787,749	I707N	possibly damaging	Het
Cntnap2	A	T	6: 47,095,549	Y1017F	possibly damaging	Het
Creb3l2	A	T	6: 37,334,481	S458T	probably benign	Het
Ctnnd2	C	A	15: 31,009,084	T1109K	possibly damaging	Het
Dcaf10	T	A	4: 45,373,011	L425Q	probably damaging	Het
Dlec1	A	G	9: 119,112,099	E239G	probably benign	Het
Dnah2	T	C	11: 69,499,194	K742E	probably damaging	Het
Dsp	A	T	13: 38,187,741	R889S	probably damaging	Het
Dync1h1	T	A	12: 110,632,788	M1859K	probably damaging	Het
Efcab7	T	A	4: 99,901,689	N361K	probably damaging	Het
Eps8l2	T	C	7: 141,355,733	V139A	probably damaging	Het
Fads3	T	G	19: 10,041,836	H35Q	probably damaging	Het
Fam163b	C	A	2: 27,113,571	V24F	probably damaging	Het
Gm14496	A	T	2: 181,995,111	T121S	probably benign	Het
Gm4799	C	T	10: 82,954,729		noncoding transcript	Het
Gm7168	A	T	17: 13,949,535	D388V	probably benign	Het
Gmeb1	A	T	4: 132,226,075	L460*	probably null	Het
Gpc6	T	G	14: 117,975,018	F534V	probably null	Het
Hectd3	A	G	4: 116,996,044	D156G	possibly damaging	Het
Itga6	T	C	2: 71,820,060	I150T	possibly damaging	Het
Kansl1	A	G	11: 104,338,186	M863T	probably benign	Het
Klhdc2	A	T	12: 69,300,279	M73L	probably benign	Het
Ktn1	A	G	14: 47,694,616	T667A	probably benign	Het
Lgsn	A	C	1: 31,203,655	I273L	probably benign	Het
Lilra5	A	G	7: 4,242,233	D292G	probably benign	Het
Mrps27	C	T	13: 99,405,074	R229C	probably damaging	Het
Muc5b	T	G	7: 141,862,436	S3040A	probably benign	Het
Nat14	T	C	7: 4,923,276	S7P	probably damaging	Het
Nfia	A	G	4: 97,783,457	I135V	possibly damaging	Het
Nkd1	G	A	8: 88,522,316	A30T	probably damaging	Het
Nup205	A	G	6: 35,225,968	D1370G	probably null	Het
Olfr282	T	C	15: 98,438,287	S273P	possibly damaging	Het
Olfr344	C	G	2: 36,569,556		probably null	Het
Olfr507	T	A	7: 108,622,287	N158K	possibly damaging	Het
Olfr633	T	C	7: 103,947,193	L209P	probably damaging	Het
Olfr726	G	A	14: 50,083,853	T276I	probably damaging	Het
Orc1	C	T	4: 108,602,032	A466V	probably benign	Het
Otud7a	T	A	7: 63,735,890	D367E	possibly damaging	Het
Pcdhb4	A	G	18: 37,308,210	Y191C	probably damaging	Het
Pclo	T	C	5: 14,678,775		probably benign	Het
Pclo	T	C	5: 14,712,814	V3767A	unknown	Het
Prmt1	A	T	7: 44,978,801		probably null	Het
Ralgapa1	A	G	12: 55,795,698	F62S	probably damaging	Het
Rangrf	T	C	11: 68,972,692	S163G	probably benign	Het
Rgs12	C	A	5: 35,019,460	A65E	probably damaging	Het
Rrbp1	T	C	2: 143,988,516	N577S	probably damaging	Het
Sept11	A	G	5: 93,167,534	H374R	probably damaging	Het
Serpina5	T	G	12: 104,103,787	N314K	probably benign	Het
Sgce	T	C	6: 4,689,621	D395G	probably damaging	Het
Slc26a9	A	T	1: 131,762,761	N501I	probably damaging	Het
Slc9c1	A	G	16: 45,581,602	D784G	possibly damaging	Het
Snapc2	A	G	8: 4,255,676	D207G	probably benign	Het
Stard9	G	T	2: 120,699,257	M1998I	probably benign	Het
Stk38	A	C	17: 28,975,933	F280V	possibly damaging	Het
Tas2r126	A	G	6: 42,435,091	K186R	probably damaging	Het
Tdp1	A	C	12: 99,909,711	D307A	probably benign	Het
Tead2	A	G	7: 45,217,250	D11G	probably damaging	Het
Tmco4	C	A	4: 139,020,072	L211I	probably damaging	Het
Tmem183a	A	G	1: 134,352,377	F255S	probably damaging	Het
Tmem87a	C	T	2: 120,375,448	G349S	possibly damaging	Het
Tpte	G	A	8: 22,336,533	E377K	possibly damaging	Het
Trim32	T	C	4: 65,613,656	F150S	possibly damaging	Het
Trpc7	T	A	13: 56,887,823	K99M	probably damaging	Het
Ttc22	A	G	4: 106,634,184	K195E	probably damaging	Het
Txn2	G	A	15: 77,927,717	P7S	probably damaging	Het
Ubxn2a	G	A	12: 4,880,700	T220I	probably damaging	Het
Ufd1	A	G	16: 18,814,876	N17S	possibly damaging	Het
Unc13a	A	G	8: 71,649,865	S958P	probably damaging	Het
Vmn1r202	T	A	13: 22,501,654	M198L	probably damaging	Het
Vmn2r84	G	A	10: 130,386,122	A743V	probably damaging	Het
Washc5	A	G	15: 59,341,158	F891S	probably damaging	Het
Zfp708	T	C	13: 67,070,311	T495A	probably benign	Het
Zfp81	A	G	17: 33,334,619	I407T	probably benign	Het
Zswim5	T	C	4: 116,986,677		probably null	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
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
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'- TTGGTGGGCTACCATCACCATGAC -3'
(R):5'- TCCTCATACACACATGGCCTCTCAG -3'

Sequencing Primer
(F):5'- GGCAGCATCGTTTCTATGAAC -3'
(R):5'- GGCCTCTCAGGCTGTTC -3'

Posted On

2013-07-11