Mutagenetix > Incidental Mutation

Incidental Mutation 'R4418:Kcnb1'

326923

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

041139-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

166937889-167032075 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 166947595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 418 (E418*)

Ref Sequence

ENSEMBL: ENSMUSP00000147093 (fasta)

Gene Model

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

AlphaFold

Q03717

Predicted Effect

probably null
Transcript: ENSMUST00000059826
AA Change: E418*

SMART Domains

Protein: ENSMUSP00000057981
Gene: ENSMUSG00000050556
AA Change: E418*

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

noncoding transcript
Transcript: ENSMUST00000148226

Predicted Effect

probably null
Transcript: ENSMUST00000207917
AA Change: E418*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

95% (72/76)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	G	1: 159,872,372 (GRCm39)		noncoding transcript	Het
Acot12	A	G	13: 91,932,524 (GRCm39)	T507A	possibly damaging	Het
Agap2	T	G	10: 126,927,519 (GRCm39)	C1113W	probably damaging	Het
Ap3s1-ps2	A	T	8: 95,131,921 (GRCm39)		noncoding transcript	Het
B3gnt3	T	C	8: 72,146,413 (GRCm39)	R39G	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Cdcp3	A	T	7: 130,849,194 (GRCm39)	D899V	possibly damaging	Het
Chad	C	T	11: 94,458,663 (GRCm39)	H271Y	possibly damaging	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Col6a1	T	A	10: 76,554,239 (GRCm39)	K323*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dclre1c	T	C	2: 3,453,972 (GRCm39)	F285S	possibly damaging	Het
Dctn2	T	G	10: 127,114,234 (GRCm39)	M360R	probably benign	Het
Dele1	T	C	18: 38,394,340 (GRCm39)		probably null	Het
Dgka	A	T	10: 128,563,963 (GRCm39)	L462Q	probably damaging	Het
Drg2	A	C	11: 60,358,972 (GRCm39)	K364T	probably damaging	Het
Dync1li1	T	A	9: 114,535,238 (GRCm39)	S167R	probably damaging	Het
Entrep1	T	C	19: 23,956,799 (GRCm39)	T365A	probably benign	Het
Fer	A	T	17: 64,336,286 (GRCm39)	D554V	possibly damaging	Het
Fignl2	A	G	15: 100,951,830 (GRCm39)	S151P	possibly damaging	Het
Gbgt1	A	G	2: 28,388,420 (GRCm39)	Y35C	probably damaging	Het
Gm6526	T	A	14: 43,986,302 (GRCm39)	I79K	probably damaging	Het
Gpr6	T	G	10: 40,946,604 (GRCm39)	N326T	probably damaging	Het
H2bc4	C	T	13: 23,868,486 (GRCm39)	T91M	probably damaging	Het
Hcn4	C	T	9: 58,751,178 (GRCm39)	T268M	probably benign	Het
Hnf4g	A	G	3: 3,713,154 (GRCm39)	M243V	possibly damaging	Het
Homer1	A	G	13: 93,538,577 (GRCm39)	E314G	probably damaging	Het
Hs6st1	T	C	1: 36,143,108 (GRCm39)	Y348H	probably damaging	Het
Ifitm6	A	T	7: 140,595,984 (GRCm39)	I103N	probably damaging	Het
Ipo5	T	G	14: 121,181,305 (GRCm39)	C944G	possibly damaging	Het
Kcnk2	G	A	1: 188,988,924 (GRCm39)	R207C	probably damaging	Het
Kctd8	T	C	5: 69,498,505 (GRCm39)	E47G	probably damaging	Het
Klhdc2	C	T	12: 69,354,371 (GRCm39)		probably benign	Het
Lrrc37	T	C	11: 103,509,140 (GRCm39)		probably benign	Het
Mgat1	A	G	11: 49,152,072 (GRCm39)	Y185C	probably damaging	Het
Mmp25	T	A	17: 23,863,044 (GRCm39)	R122S	probably damaging	Het
Mrpl39	C	A	16: 84,522,012 (GRCm39)		probably null	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nek1	T	C	8: 61,559,898 (GRCm39)	F1007S	probably damaging	Het
Neto1	T	C	18: 86,422,981 (GRCm39)	M146T	probably benign	Het
Opn1sw	G	A	6: 29,379,423 (GRCm39)	R45*	probably null	Het
Osbpl5	A	T	7: 143,263,552 (GRCm39)	C98*	probably null	Het
Pacc1	T	A	1: 191,080,629 (GRCm39)	V283E	probably damaging	Het
Pcdhb7	C	T	18: 37,476,535 (GRCm39)	A557V	probably benign	Het
Pecam1	A	G	11: 106,586,748 (GRCm39)	F155L	possibly damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pmfbp1	C	A	8: 110,257,265 (GRCm39)	Q609K	probably benign	Het
Pnpo	A	T	11: 96,831,795 (GRCm39)		probably null	Het
Ppp2cb	G	A	8: 34,107,077 (GRCm39)	R254Q	probably benign	Het
Qser1	A	T	2: 104,619,766 (GRCm39)	S349T	probably damaging	Het
Rnf167	T	A	11: 70,538,743 (GRCm39)	W17R	probably damaging	Het
Rpl21-ps4	A	G	14: 11,227,879 (GRCm38)		noncoding transcript	Het
Rxfp2	A	T	5: 149,972,265 (GRCm39)	H158L	probably benign	Het
Ryr3	C	T	2: 112,661,569 (GRCm39)	C1807Y	probably damaging	Het
Scaper	T	A	9: 55,745,464 (GRCm39)	E601D	probably damaging	Het
Secisbp2l	A	T	2: 125,594,835 (GRCm39)	C542S	probably benign	Het
Slc6a19	A	G	13: 73,832,514 (GRCm39)	V393A	possibly damaging	Het
Stil	A	G	4: 114,866,574 (GRCm39)	N176S	probably benign	Het
Tap1	T	A	17: 34,407,353 (GRCm39)		probably null	Het
Tcl1b3	A	T	12: 105,159,844 (GRCm39)	Q105L	probably damaging	Het
Trappc10	G	T	10: 78,053,022 (GRCm39)	A251D	probably damaging	Het
Trim43a	G	T	9: 88,464,206 (GRCm39)	C39F	probably damaging	Het
Ttn	A	T	2: 76,719,825 (GRCm39)		probably benign	Het
Vmn2r110	A	T	17: 20,803,951 (GRCm39)	L208*	probably null	Het
Vmn2r88	G	T	14: 51,655,538 (GRCm39)	L583F	probably damaging	Het
Wasf1	C	T	10: 40,812,578 (GRCm39)	H456Y	unknown	Het
Zfp120	A	G	2: 149,960,105 (GRCm39)	I73T	possibly damaging	Het
Zfp990	T	C	4: 145,263,298 (GRCm39)	C99R	possibly 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
R0848:Kcnb1	UTSW	2	166,948,187 (GRCm39)	missense	probably damaging	1.00
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
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'- CAGGTGGTTATCCTGCACCTTG -3'
(R):5'- TCTTTGCCGAGAAGGATGAGG -3'

Sequencing Primer
(F):5'- ACCTTGTCCTTCTTAGCCACG -3'
(R):5'- GGATGAGGATGACACCAAGTTC -3'

Posted On

2015-07-07