Mutagenetix > Incidental Mutation

Incidental Mutation 'R9274:Kcnb2'

703129

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 #

R9274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15287254-15723750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15711499 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 865 (Q865R)

Ref Sequence

ENSEMBL: ENSMUSP00000126656 (fasta)

Gene Model

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

AlphaFold

A6H8H5

Predicted Effect

probably benign
Transcript: ENSMUST00000170146
AA Change: Q865R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000175681
AA Change: Q865R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: Q865R

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (65/65)

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
1600015I10Rik	T	C	6: 48,930,407	F114L	possibly damaging	Het
Actc1	A	T	2: 114,049,271	S236T	probably benign	Het
Adam30	A	G	3: 98,161,951	T239A	probably benign	Het
Ascl2	G	A	7: 142,968,016	R232C	probably damaging	Het
Atp10a	C	A	7: 58,828,621	Q1471K	probably benign	Het
Avl9	T	A	6: 56,743,361	D461E	probably damaging	Het
Baiap3	T	A	17: 25,244,380	Y983F	probably damaging	Het
C1rl	A	G	6: 124,508,524	S285G	probably benign	Het
Cacna1i	G	A	15: 80,370,153	V772M	probably damaging	Het
Ccser2	T	A	14: 36,938,780	D472V	possibly damaging	Het
Cd244	T	G	1: 171,574,360	V218G	probably benign	Het
Cdhr1	T	C	14: 37,080,607	K633R	probably benign	Het
Col14a1	A	G	15: 55,518,275	Q1748R	probably damaging	Het
Col6a3	T	A	1: 90,779,298	Y2638F	unknown	Het
Crnkl1	A	T	2: 145,923,916	F411L	probably damaging	Het
Crp	T	A	1: 172,698,505	F52L	possibly damaging	Het
Dnah12	A	G	14: 26,815,417	N2208D	probably benign	Het
Exd2	T	C	12: 80,492,900		probably null	Het
F13a1	A	T	13: 36,868,787	I726N	probably damaging	Het
Fmo6	G	A	1: 162,920,352	T381I	probably benign	Het
Gdpd5	T	C	7: 99,458,782	L522P	probably damaging	Het
Gm12790	T	A	4: 101,967,546	D175V	possibly damaging	Het
Gm3543	T	C	14: 41,980,168	R120G	probably damaging	Het
Gpatch2	T	A	1: 187,230,832	D273E	probably damaging	Het
Hlcs	A	G	16: 94,287,926	S66P	possibly damaging	Het
Hmcn1	T	C	1: 150,630,295	T3827A	probably benign	Het
Ism2	G	A	12: 87,285,053	Q237*	probably null	Het
Jph2	G	A	2: 163,397,627		probably benign	Het
Kcnh6	C	G	11: 106,034,034	H941Q	possibly damaging	Het
Kcnk9	A	G	15: 72,512,375	V318A	unknown	Het
Lemd3	G	A	10: 120,978,812	A172V	possibly damaging	Het
Lifr	G	T	15: 7,188,110	A840S	probably damaging	Het
Lnpep	T	C	17: 17,538,575	T836A	probably benign	Het
Mapk13	A	G	17: 28,769,516	Y36C	probably damaging	Het
Mdm2	G	A	10: 117,705,176		probably benign	Het
Msmb	T	C	14: 32,148,173	M34T	probably benign	Het
Myo5a	A	G	9: 75,189,997	N1319S	possibly damaging	Het
Myot	T	A	18: 44,346,198	V334E	probably damaging	Het
Nalcn	A	G	14: 123,515,656	I306T	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nphp4	T	C	4: 152,555,599	Y981H	probably benign	Het
Nphs2	G	A	1: 156,316,846	R140Q	probably damaging	Het
Nsa2	C	T	13: 97,135,662	R17H	probably benign	Het
Nup98	C	A	7: 102,138,830	R1011L	probably benign	Het
Obox6	T	C	7: 15,833,841	H227R	possibly damaging	Het
Olfr1231	A	C	2: 89,303,169	L141R	probably damaging	Het
Olfr1338	G	A	4: 118,753,686	A286V	probably benign	Het
Olfr342	T	C	2: 36,527,547	I45T	probably damaging	Het
P2rx2	C	T	5: 110,341,843	G202D	probably damaging	Het
Pcdh12	A	G	18: 38,282,897	W392R	probably damaging	Het
Plxna2	G	A	1: 194,788,828	G969D	probably damaging	Het
Prg4	T	C	1: 150,456,173	T250A	possibly damaging	Het
Rad54l	G	T	4: 116,110,470	P205Q	probably damaging	Het
Ralgapb	A	G	2: 158,436,619	I334M	probably damaging	Het
Ric3	C	T	7: 109,048,005	D204N	probably damaging	Het
Rnf10	A	T	5: 115,247,263	Y557*	probably null	Het
Ruvbl1	A	G	6: 88,497,352	I446V	probably benign	Het
Serinc3	A	T	2: 163,626,451	V361D	probably damaging	Het
Slc4a1	C	A	11: 102,351,221	V864L	probably benign	Het
Slf1	C	A	13: 77,043,550	*1055L	probably null	Het
Stk25	T	C	1: 93,625,084	S328G	probably benign	Het
Stpg1	T	C	4: 135,525,471	F178L	possibly damaging	Het
Tmem25	C	T	9: 44,795,039	R345H	probably benign	Het
Tssk1	A	T	16: 17,894,860	I170L	probably benign	Het
Tubg1	A	G	11: 101,126,415		probably benign	Het
Uchl3	A	G	14: 101,665,804	D33G	probably damaging	Het
Vmn1r152	A	T	7: 22,523,631	H222L	probably benign	Het
Zfp975	C	T	7: 42,662,875	V105I	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
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
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'- TGTCAGGGACCATCCAAAGG -3'
(R):5'- AGTTCACGGCATTATTAATCGC -3'

Sequencing Primer
(F):5'- GGGACCATCCAAAGGTTTCTC -3'
(R):5'- ACGGCATTATTAATCGCATTTTTAAG -3'

Posted On

2022-03-25