Mutagenetix > Incidental Mutation

Incidental Mutation 'R4625:Kcnb1'

346472

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

041890-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4625 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

166937889-167032075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 167030153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 131 (S131P)

Ref Sequence

ENSEMBL: ENSMUSP00000147093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059826] [ENSMUST00000088041] [ENSMUST00000207917]

AlphaFold

Q03717

Predicted Effect

probably damaging
Transcript: ENSMUST00000059826
AA Change: S131P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057981
Gene: ENSMUSG00000050556
AA Change: S131P

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

probably benign
Transcript: ENSMUST00000088041

SMART Domains

Protein: ENSMUSP00000085357
Gene: ENSMUSG00000017969

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:p450	31	496	1.9e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151217

Predicted Effect

probably damaging
Transcript: ENSMUST00000207917
AA Change: S131P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.7795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (75/77)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	C	5: 144,981,693 (GRCm39)	E176A	possibly damaging	Het
Abcc2	A	G	19: 43,792,178 (GRCm39)	I320V	probably benign	Het
Abtb1	C	T	6: 88,813,269 (GRCm39)	A466T	probably benign	Het
Ak6	C	A	13: 100,792,181 (GRCm39)	T208K	probably benign	Het
Albfm1	G	T	5: 90,719,611 (GRCm39)	V236L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Anapc15	T	A	7: 101,550,239 (GRCm39)		probably benign	Het
Anxa2r1	G	T	13: 120,496,765 (GRCm39)	R35S	possibly damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Aspn	A	G	13: 49,710,901 (GRCm39)	D182G	probably benign	Het
Astn1	A	T	1: 158,407,864 (GRCm39)	D607V	probably damaging	Het
Btnl1	A	G	17: 34,598,725 (GRCm39)	I114V	probably null	Het
Ccdc159	A	G	9: 21,840,762 (GRCm39)	S110G	probably benign	Het
Cdh18	A	C	15: 22,714,128 (GRCm39)		probably benign	Het
Cdh22	A	G	2: 164,954,526 (GRCm39)	I665T	probably damaging	Het
Cenpk	T	A	13: 104,385,901 (GRCm39)	H265Q	possibly damaging	Het
Chd6	A	G	2: 160,811,412 (GRCm39)	L1397P	probably damaging	Het
Chia1	A	C	3: 106,036,256 (GRCm39)	N279H	probably benign	Het
Cyp8b1	T	C	9: 121,744,651 (GRCm39)	E227G	probably damaging	Het
Dmxl2	A	T	9: 54,311,404 (GRCm39)	N1772K	possibly damaging	Het
Dnah2	A	G	11: 69,354,487 (GRCm39)	S2244P	probably damaging	Het
Fshr	T	C	17: 89,293,148 (GRCm39)	Y510C	probably damaging	Het
Gm5087	T	C	14: 13,158,798 (GRCm38)		noncoding transcript	Het
Gm7135	A	C	1: 97,387,351 (GRCm39)		noncoding transcript	Het
Hnrnpll	A	T	17: 80,358,291 (GRCm39)	Y153*	probably null	Het
Htt	T	A	5: 34,987,129 (GRCm39)	V1116E	probably damaging	Het
Ikzf5	A	T	7: 130,995,482 (GRCm39)		probably null	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Kif1a	A	T	1: 92,970,381 (GRCm39)	D952E	probably benign	Het
Klf4	A	G	4: 55,530,370 (GRCm39)	V247A	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lamc1	A	G	1: 153,118,442 (GRCm39)	S910P	probably benign	Het
Lin9	T	A	1: 180,516,845 (GRCm39)	N512K	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Mrps30	A	G	13: 118,523,250 (GRCm39)	V174A	probably benign	Het
Myo1g	T	C	11: 6,462,240 (GRCm39)	E574G	probably damaging	Het
Nphp3	G	A	9: 103,913,358 (GRCm39)	G997R	possibly damaging	Het
Obscn	A	G	11: 58,958,084 (GRCm39)	C3748R	probably damaging	Het
Or1j17	A	G	2: 36,578,083 (GRCm39)	D23G	probably benign	Het
Or5p69	T	C	7: 107,966,895 (GRCm39)	L66P	probably damaging	Het
Or8g28	A	T	9: 39,169,614 (GRCm39)	M118K	probably damaging	Het
Or9s18	T	A	13: 65,300,674 (GRCm39)	V212D	possibly damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Ptch1	T	C	13: 63,670,978 (GRCm39)	T851A	probably benign	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rbp3	A	G	14: 33,678,056 (GRCm39)	Q668R	probably benign	Het
Rfwd3	T	C	8: 112,002,990 (GRCm39)	T611A	probably benign	Het
Rhcg	T	A	7: 79,251,352 (GRCm39)	D219V	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Slc25a26	G	T	6: 94,484,633 (GRCm39)	V58F	probably damaging	Het
Smarca5	T	A	8: 81,437,192 (GRCm39)	K721N	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Speer2	A	T	16: 69,655,642 (GRCm39)	Y61*	probably null	Het
Spef2	T	C	15: 9,647,524 (GRCm39)	Y961C	probably damaging	Het
Sptb	C	A	12: 76,634,100 (GRCm39)		probably null	Het
Svep1	T	G	4: 58,072,698 (GRCm39)	N2204H	probably damaging	Het
Tex56	G	A	13: 35,116,448 (GRCm39)	G66S	probably damaging	Het
Tmem86a	C	A	7: 46,702,613 (GRCm39)	P13T	probably damaging	Het
Tmt1a	A	T	15: 100,210,939 (GRCm39)	Q170L	probably damaging	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Tox2	G	A	2: 163,156,336 (GRCm39)	S211N	possibly damaging	Het
Trpc6	A	T	9: 8,677,963 (GRCm39)	E762D	probably benign	Het
Tshb	C	T	3: 102,685,461 (GRCm39)		probably null	Het
Ttc3	T	A	16: 94,189,131 (GRCm39)	L163*	probably null	Het
Twsg1	G	T	17: 66,236,546 (GRCm39)	D161E	probably benign	Het
Uchl4	A	C	9: 64,143,080 (GRCm39)	D187A	probably damaging	Het
Vmn2r104	A	T	17: 20,268,443 (GRCm39)	W9R	probably benign	Het
Yju2	T	A	17: 56,271,598 (GRCm39)	L173Q	probably damaging	Het
Zfp14	G	A	7: 29,738,020 (GRCm39)	Q322*	probably null	Het
Znhit3	G	A	11: 84,802,316 (GRCm39)	P145S	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
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
R4418:Kcnb1	UTSW	2	166,947,595 (GRCm39)	nonsense	probably null
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'- CAGACTCCAGACTCACCTTG -3'
(R):5'- TCACAGTACGGTTCGCTGAC -3'

Sequencing Primer
(F):5'- AGACTCACCTTGGCGGC -3'
(R):5'- GCATGACGAAGCATGGCTC -3'

Posted On

2015-09-25