Mutagenetix > Incidental Mutation

Incidental Mutation 'R0848:Kcnb1'

77403

Institutional Source

Beutler Lab

Gene Symbol

Kcnb1

Ensembl Gene

ENSMUSG00000050556

Gene Name

potassium voltage gated channel, Shab-related subfamily, member 1

Synonyms

Shab, Kcr1-1, Kv2.1

MMRRC Submission

039027-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0848 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

166937889-167032075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 166948187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 220 (F220L)

Ref Sequence

ENSEMBL: ENSMUSP00000147093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059826] [ENSMUST00000207917]

AlphaFold

Q03717

Predicted Effect

probably damaging
Transcript: ENSMUST00000059826
AA Change: F220L

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

SMART Domains

Protein: ENSMUSP00000057981
Gene: ENSMUSG00000050556
AA Change: F220L

Domain	Start	End	E-Value	Type
BTB	31	140	1.3e-14	SMART
low complexity region	150	162	N/A	INTRINSIC
Pfam:Ion_trans	188	424	2.4e-50	PFAM
Pfam:Ion_trans_2	332	418	1.2e-13	PFAM
Pfam:Kv2channel	467	618	5.4e-48	PFAM
low complexity region	698	706	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144351

Predicted Effect

probably damaging
Transcript: ENSMUST00000207917
AA Change: F220L

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.5%

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 and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show reduced fasting glucose levels, hyperinsulinemia, improved glucose tolerance, altered glucose-induced electrical activity of pancreatic beta cells, and enhanced insulin secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,114,984 (GRCm39)	H181Q	probably damaging	Het
Abca13	T	A	11: 9,632,011 (GRCm39)	L4977*	probably null	Het
Abca8a	T	A	11: 109,919,016 (GRCm39)	Y1550F	probably damaging	Het
Actr2	C	T	11: 20,022,584 (GRCm39)	E296K	probably benign	Het
Agtpbp1	A	T	13: 59,681,753 (GRCm39)		probably benign	Het
Anks1b	A	C	10: 89,906,987 (GRCm39)	E268A	probably damaging	Het
C1rl	A	G	6: 124,485,465 (GRCm39)	T279A	probably benign	Het
C5ar2	T	C	7: 15,971,526 (GRCm39)	T134A	probably benign	Het
Cdkl3	G	A	11: 51,902,094 (GRCm39)	R101Q	probably damaging	Het
Celsr2	A	T	3: 108,321,654 (GRCm39)	F386Y	probably benign	Het
Chd1	C	T	17: 15,990,503 (GRCm39)	P1685L	probably damaging	Het
Chrne	G	T	11: 70,506,239 (GRCm39)	H402Q	probably benign	Het
Clvs1	A	G	4: 9,282,003 (GRCm39)	D149G	possibly damaging	Het
Cntnap5b	T	C	1: 100,182,888 (GRCm39)	Y620H	probably benign	Het
Col6a1	A	G	10: 76,549,458 (GRCm39)		probably null	Het
Cyp2d26	T	A	15: 82,674,434 (GRCm39)	I483F	probably benign	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dmac2l	A	T	12: 69,788,584 (GRCm39)	H161L	probably benign	Het
Eif1a	T	A	18: 46,741,114 (GRCm39)	N116K	possibly damaging	Het
Epb41l5	A	T	1: 119,477,684 (GRCm39)	C696S	probably benign	Het
Exoc7	A	G	11: 116,186,074 (GRCm39)	S376P	possibly damaging	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gimap7	T	C	6: 48,700,657 (GRCm39)	I81T	probably damaging	Het
Gtf2a1l	T	C	17: 89,001,657 (GRCm39)	V171A	probably damaging	Het
Hax1	A	G	3: 89,902,940 (GRCm39)	S253P	probably damaging	Het
Hsd3b5	A	T	3: 98,526,671 (GRCm39)	D258E	probably damaging	Het
Kif1a	T	A	1: 92,947,620 (GRCm39)	Y1708F	probably damaging	Het
Krt14	A	T	11: 100,095,090 (GRCm39)	I379N	probably damaging	Het
Lpxn	A	G	19: 12,781,401 (GRCm39)	I40V	probably benign	Het
Lrp1	C	T	10: 127,389,231 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,809,515 (GRCm39)	R395H	probably benign	Het
Mindy4	G	A	6: 55,295,271 (GRCm39)	W737*	probably null	Het
Mki67	C	A	7: 135,302,772 (GRCm39)	R754L	probably benign	Het
Morf4l1	A	G	9: 89,982,502 (GRCm39)	V144A	probably benign	Het
Mvb12a	T	C	8: 71,998,422 (GRCm39)	S186P	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Nipal1	A	G	5: 72,825,183 (GRCm39)	N292S	probably damaging	Het
Nqo2	T	G	13: 34,156,461 (GRCm39)		probably null	Het
Or14a256	T	C	7: 86,264,848 (GRCm39)	Y335C	probably damaging	Het
Or2d3b	A	G	7: 106,514,200 (GRCm39)	K265R	probably benign	Het
Or5ak24	A	T	2: 85,260,365 (GRCm39)	N269K	probably benign	Het
Or6c214	C	T	10: 129,591,077 (GRCm39)	V81I	probably benign	Het
Osbpl7	C	A	11: 96,951,350 (GRCm39)	P507Q	probably damaging	Het
Pcdhb1	G	A	18: 37,400,475 (GRCm39)	G809S	probably benign	Het
Pcm1	T	C	8: 41,735,720 (GRCm39)	V846A	probably damaging	Het
Phf3	A	G	1: 30,902,253 (GRCm39)	L20P	probably damaging	Het
Pih1d1	A	G	7: 44,807,041 (GRCm39)	T58A	probably damaging	Het
Plekhn1	A	G	4: 156,308,021 (GRCm39)		probably null	Het
Plvap	A	T	8: 71,959,526 (GRCm39)	L422Q	probably damaging	Het
Polq	C	T	16: 36,882,492 (GRCm39)	A1273V	probably benign	Het
Prelid2	T	A	18: 42,068,289 (GRCm39)	I51F	probably damaging	Het
Ptpn18	G	A	1: 34,501,783 (GRCm39)	D8N	probably damaging	Het
Ptpra	T	A	2: 130,360,911 (GRCm39)	F190Y	probably damaging	Het
Pus7l	A	G	15: 94,438,393 (GRCm39)	S151P	probably benign	Het
Rsph6a	G	A	7: 18,791,595 (GRCm39)	D255N	probably benign	Het
Serpinb6c	A	T	13: 34,083,288 (GRCm39)	V42D	probably damaging	Het
Slc7a13	A	G	4: 19,818,866 (GRCm39)	N22S	probably benign	Het
Snx5	G	A	2: 144,095,726 (GRCm39)	R312C	probably damaging	Het
Stard9	T	C	2: 120,526,304 (GRCm39)	S854P	probably damaging	Het
Syne2	AAGAG	AAGAGAGAG	12: 76,144,733 (GRCm39)		probably null	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tlr12	A	G	4: 128,510,084 (GRCm39)	I722T	probably benign	Het
Tmem101	A	T	11: 102,046,692 (GRCm39)	M59K	possibly damaging	Het
Trim34a	C	T	7: 103,910,331 (GRCm39)	R378C	probably benign	Het
Trim35	T	A	14: 66,546,574 (GRCm39)	M447K	probably benign	Het
Trps1	C	A	15: 50,524,945 (GRCm39)	S704I	possibly damaging	Het
Vmn1r231	T	A	17: 21,110,433 (GRCm39)	S161C	probably damaging	Het
Vps13a	A	C	19: 16,676,261 (GRCm39)	N1237K	probably damaging	Het
Zfp619	G	T	7: 39,185,983 (GRCm39)	C671F	probably damaging	Het

Other mutations in Kcnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Kcnb1	APN	2	166,948,127 (GRCm39)	missense	probably damaging	1.00
IGL02945:Kcnb1	APN	2	167,030,308 (GRCm39)	missense	probably benign	0.03
R0139:Kcnb1	UTSW	2	166,947,459 (GRCm39)	missense	possibly damaging	0.94
R0144:Kcnb1	UTSW	2	166,946,467 (GRCm39)	missense	probably damaging	1.00
R0238:Kcnb1	UTSW	2	166,946,889 (GRCm39)	missense	probably benign	0.04
R0238:Kcnb1	UTSW	2	166,946,889 (GRCm39)	missense	probably benign	0.04
R2869:Kcnb1	UTSW	2	166,947,855 (GRCm39)	missense	probably damaging	1.00
R2869:Kcnb1	UTSW	2	166,947,855 (GRCm39)	missense	probably damaging	1.00
R3964:Kcnb1	UTSW	2	166,946,412 (GRCm39)	missense	probably damaging	1.00
R3966:Kcnb1	UTSW	2	166,946,412 (GRCm39)	missense	probably damaging	1.00
R4254:Kcnb1	UTSW	2	166,947,651 (GRCm39)	missense	probably damaging	1.00
R4418:Kcnb1	UTSW	2	166,947,595 (GRCm39)	nonsense	probably null
R4625:Kcnb1	UTSW	2	167,030,153 (GRCm39)	missense	probably damaging	1.00
R4949:Kcnb1	UTSW	2	166,947,521 (GRCm39)	missense	probably damaging	1.00
R5144:Kcnb1	UTSW	2	166,947,864 (GRCm39)	missense	probably damaging	1.00
R5249:Kcnb1	UTSW	2	166,947,103 (GRCm39)	missense	possibly damaging	0.95
R5849:Kcnb1	UTSW	2	166,947,946 (GRCm39)	missense	probably damaging	1.00
R5869:Kcnb1	UTSW	2	167,029,991 (GRCm39)	missense	probably benign	0.01
R6108:Kcnb1	UTSW	2	166,947,060 (GRCm39)	missense	probably damaging	1.00
R6636:Kcnb1	UTSW	2	166,947,774 (GRCm39)	missense	probably damaging	0.99
R6637:Kcnb1	UTSW	2	166,947,774 (GRCm39)	missense	probably damaging	0.99
R6880:Kcnb1	UTSW	2	166,947,727 (GRCm39)	missense	probably damaging	1.00
R7391:Kcnb1	UTSW	2	166,947,370 (GRCm39)	missense	probably damaging	1.00
R7401:Kcnb1	UTSW	2	167,030,204 (GRCm39)	missense	probably damaging	0.99
R7651:Kcnb1	UTSW	2	167,030,281 (GRCm39)	missense	probably damaging	1.00
R7744:Kcnb1	UTSW	2	167,030,251 (GRCm39)	missense	probably damaging	1.00
R7825:Kcnb1	UTSW	2	166,947,892 (GRCm39)	missense	probably damaging	1.00
R7848:Kcnb1	UTSW	2	166,948,188 (GRCm39)	missense	probably damaging	1.00
R7934:Kcnb1	UTSW	2	166,946,536 (GRCm39)	missense	probably benign	0.03
R8215:Kcnb1	UTSW	2	166,946,361 (GRCm39)	missense	probably benign	0.43
R8241:Kcnb1	UTSW	2	166,948,117 (GRCm39)	missense	probably damaging	1.00
R8388:Kcnb1	UTSW	2	166,947,217 (GRCm39)	missense	probably benign
R8553:Kcnb1	UTSW	2	166,946,531 (GRCm39)	missense	possibly damaging	0.67
R9353:Kcnb1	UTSW	2	166,947,007 (GRCm39)	missense	probably benign
R9622:Kcnb1	UTSW	2	167,030,161 (GRCm39)	missense	probably damaging	1.00
Z1088:Kcnb1	UTSW	2	167,029,981 (GRCm39)	missense	probably benign	0.38
Z1176:Kcnb1	UTSW	2	167,030,322 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGATGCGGAAGATCTGGACCAC -3'
(R):5'- AGCCGTGAAGTCTCTGGTGAGAAC -3'

Sequencing Primer
(F):5'- ACACGGCGCACATTCTG -3'
(R):5'- TGTGAAAGCTGCGATGACC -3'

Posted On

2013-10-16