Mutagenetix > Incidental Mutation

Incidental Mutation 'R8738:Kcnb2'

663124

Institutional Source

Beutler Lab

Gene Symbol

Kcnb2

Ensembl Gene

ENSMUSG00000092083

Gene Name

potassium voltage gated channel, Shab-related subfamily, member 2

Synonyms

Kv2.2, 9630047L19Rik

MMRRC Submission

068585-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8738 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15357478-15793974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15780648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 507 (S507P)

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: S507P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000175681
AA Change: S507P

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

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: S507P

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: 99.8%
20x: 99.3%

Validation Efficiency

97% (76/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	G	A	9: 15,196,214 (GRCm39)	T283M	probably damaging	Het
Abca9	A	G	11: 110,056,817 (GRCm39)	M1T	probably null	Het
Ackr1	T	C	1: 173,159,952 (GRCm39)	Y189C	probably damaging	Het
Acsm4	A	G	7: 119,304,264 (GRCm39)	D303G	probably benign	Het
Arfgef2	A	T	2: 166,708,867 (GRCm39)	M1060L	probably benign	Het
Arhgef40	T	A	14: 52,238,414 (GRCm39)	F1298I	probably damaging	Het
Atg2a	T	C	19: 6,306,674 (GRCm39)	I1453T	probably benign	Het
B4galnt1	A	T	10: 127,007,584 (GRCm39)	D495V	probably benign	Het
Brpf3	T	A	17: 29,040,214 (GRCm39)	D878E	probably benign	Het
C3	A	G	17: 57,511,015 (GRCm39)	*1664R	probably null	Het
Cap2	A	G	13: 46,684,548 (GRCm39)	T73A	probably benign	Het
Ccr6	A	T	17: 8,475,394 (GRCm39)	I200F	probably damaging	Het
Cdc42bpb	C	T	12: 111,274,221 (GRCm39)	G1021R	probably benign	Het
Cidea	C	A	18: 67,499,485 (GRCm39)	S124*	probably null	Het
Cnst	C	A	1: 179,420,274 (GRCm39)	T135K	probably benign	Het
Crebbp	A	T	16: 3,936,952 (GRCm39)	M805K	probably benign	Het
Crybb1	A	G	5: 112,411,439 (GRCm39)	Y119C	probably damaging	Het
Cux1	G	T	5: 136,402,220 (GRCm39)	T121K	probably damaging	Het
Dnah11	A	T	12: 118,049,384 (GRCm39)		probably null	Het
Dnmbp	T	C	19: 43,900,677 (GRCm39)	T48A	probably damaging	Het
Dysf	G	A	6: 84,171,353 (GRCm39)	G1787E	probably damaging	Het
Gcm2	T	A	13: 41,258,096 (GRCm39)	R177S	probably benign	Het
Gdf6	G	T	4: 9,859,429 (GRCm39)	R170S	probably damaging	Het
Gm16686	A	T	4: 88,673,775 (GRCm39)	M18K	unknown	Het
Gm36864	C	T	7: 43,886,304 (GRCm39)	Q179*	probably null	Het
Golgb1	A	G	16: 36,736,675 (GRCm39)	D2015G	probably damaging	Het
Gtf2i	A	G	5: 134,324,374 (GRCm39)	L30P	probably damaging	Het
Herc2	A	G	7: 55,798,402 (GRCm39)	E1955G	possibly damaging	Het
Hes3	A	T	4: 152,372,132 (GRCm39)	D37E	probably damaging	Het
Igha	A	G	12: 113,223,144 (GRCm39)	V161A	probably damaging	Het
Isl2	T	G	9: 55,452,722 (GRCm39)	S327A	probably benign	Het
Itk	A	G	11: 46,231,539 (GRCm39)	L339P	probably damaging	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lhfpl4	C	A	6: 113,171,034 (GRCm39)	V51L	possibly damaging	Het
Lhpp	A	G	7: 132,243,261 (GRCm39)	Y159C	probably damaging	Het
Lrwd1	C	A	5: 136,162,257 (GRCm39)	E159*	probably null	Het
Map3k13	A	G	16: 21,745,008 (GRCm39)	T856A	probably damaging	Het
Mcm8	A	G	2: 132,665,141 (GRCm39)	T206A	probably benign	Het
Megf6	A	G	4: 154,352,436 (GRCm39)	K1265R	probably benign	Het
Mrgprb2	A	G	7: 48,202,648 (GRCm39)	Y26H	probably benign	Het
Mug1	T	C	6: 121,817,208 (GRCm39)		probably benign	Het
Mysm1	C	T	4: 94,856,196 (GRCm39)	G134S	probably damaging	Het
Nlrp3	A	C	11: 59,440,216 (GRCm39)	I598L	probably benign	Het
Npas2	A	T	1: 39,331,797 (GRCm39)	I71F	possibly damaging	Het
Nr1h5	A	G	3: 102,862,015 (GRCm39)	S85P	probably benign	Het
Nrcam	T	A	12: 44,619,075 (GRCm39)	V868D	possibly damaging	Het
Oas1a	A	G	5: 121,040,019 (GRCm39)	F191L	probably damaging	Het
Or14j8	A	T	17: 38,263,673 (GRCm39)	Y81N	possibly damaging	Het
Orc3	A	T	4: 34,599,778 (GRCm39)	L125H	possibly damaging	Het
Osbpl7	A	G	11: 96,946,903 (GRCm39)	E402G	possibly damaging	Het
Otof	G	A	5: 30,545,968 (GRCm39)	Q462*	probably null	Het
Phlda2	A	C	7: 143,055,959 (GRCm39)	I90S	probably damaging	Het
Plin3	C	T	17: 56,593,490 (GRCm39)	V75I	probably benign	Het
Pms1	A	T	1: 53,321,195 (GRCm39)	S13T	possibly damaging	Het
Ppm1d	A	G	11: 85,236,732 (GRCm39)	K504E	probably damaging	Het
Rflna	A	T	5: 125,087,541 (GRCm39)	I93F	probably damaging	Het
Rnpc3	T	A	3: 113,414,805 (GRCm39)	M193L	probably benign	Het
Sema3e	A	T	5: 14,214,169 (GRCm39)	I145F	possibly damaging	Het
Serpinb1b	C	A	13: 33,271,500 (GRCm39)	N90K	probably damaging	Het
Sfswap	A	G	5: 129,620,345 (GRCm39)	D538G	possibly damaging	Het
Snx14	A	T	9: 88,289,453 (GRCm39)	D266E	possibly damaging	Het
Stat4	C	T	1: 52,115,711 (GRCm39)	T217M	possibly damaging	Het
Taf13	T	C	3: 108,485,444 (GRCm39)	M40T	probably damaging	Het
Tenm4	A	G	7: 96,523,047 (GRCm39)	T1530A	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tnfrsf14	T	C	4: 155,007,710 (GRCm39)	I220M	possibly damaging	Het
Tnk2	T	C	16: 32,484,718 (GRCm39)	W60R	probably damaging	Het
Tph2	A	T	10: 115,015,614 (GRCm39)		probably benign	Het
Unc13b	A	T	4: 43,177,564 (GRCm39)	K2797N	unknown	Het
Upf1	C	G	8: 70,785,973 (GRCm39)	M995I	probably benign	Het
Upf1	G	A	8: 70,785,972 (GRCm39)	P996S	probably benign	Het
Vcan	C	T	13: 89,840,439 (GRCm39)	V1702M	probably benign	Het
Vmn2r57	T	C	7: 41,077,020 (GRCm39)	D382G	probably benign	Het
Xxylt1	C	T	16: 30,899,964 (GRCm39)	A64T	probably benign	Het
Zcchc8	A	G	5: 123,841,070 (GRCm39)	S407P	probably damaging	Het
Zdhhc19	T	A	16: 32,317,187 (GRCm39)	F109Y	probably damaging	Het
Zfp638	T	C	6: 83,931,745 (GRCm39)		probably null	Het
Zfp691	A	G	4: 119,027,861 (GRCm39)	S124P	probably damaging	Het
Zfp804a	T	A	2: 82,089,450 (GRCm39)	V1093D	probably damaging	Het
Zfp986	A	C	4: 145,625,550 (GRCm39)	Q70P	probably benign	Het

Other mutations in Kcnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Kcnb2	APN	1	15,781,236 (GRCm39)	missense	probably benign	0.02
IGL01321:Kcnb2	APN	1	15,383,147 (GRCm39)	missense	probably benign	0.09
IGL01353:Kcnb2	APN	1	15,781,048 (GRCm39)	missense	probably benign	0.02
IGL01990:Kcnb2	APN	1	15,383,178 (GRCm39)	missense	probably benign	0.19
IGL02008:Kcnb2	APN	1	15,781,033 (GRCm39)	missense	probably benign	0.00
IGL02120:Kcnb2	APN	1	15,780,085 (GRCm39)	missense	probably damaging	0.98
IGL02370:Kcnb2	APN	1	15,781,159 (GRCm39)	missense	probably benign
IGL02526:Kcnb2	APN	1	15,780,979 (GRCm39)	missense	probably damaging	1.00
IGL02859:Kcnb2	APN	1	15,780,730 (GRCm39)	missense	probably damaging	1.00
IGL03039:Kcnb2	APN	1	15,781,435 (GRCm39)	missense	probably benign
IGL03144:Kcnb2	APN	1	15,780,112 (GRCm39)	missense	probably damaging	1.00
F5770:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
PIT4131001:Kcnb2	UTSW	1	15,383,200 (GRCm39)	missense	possibly damaging	0.92
R0266:Kcnb2	UTSW	1	15,783,137 (GRCm39)	unclassified	probably benign
R0538:Kcnb2	UTSW	1	15,783,108 (GRCm39)	unclassified	probably benign
R0611:Kcnb2	UTSW	1	15,780,664 (GRCm39)	missense	probably benign	0.07
R1542:Kcnb2	UTSW	1	15,781,012 (GRCm39)	missense	probably benign	0.01
R1732:Kcnb2	UTSW	1	15,779,979 (GRCm39)	missense	probably benign	0.02
R1995:Kcnb2	UTSW	1	15,779,990 (GRCm39)	missense	possibly damaging	0.66
R2166:Kcnb2	UTSW	1	15,781,540 (GRCm39)	missense	possibly damaging	0.82
R2444:Kcnb2	UTSW	1	15,779,791 (GRCm39)	missense	probably benign
R3025:Kcnb2	UTSW	1	15,781,059 (GRCm39)	missense	possibly damaging	0.87
R3886:Kcnb2	UTSW	1	15,780,639 (GRCm39)	missense	probably damaging	1.00
R5010:Kcnb2	UTSW	1	15,383,186 (GRCm39)	missense	probably benign	0.09
R5039:Kcnb2	UTSW	1	15,779,724 (GRCm39)	missense	probably damaging	1.00
R5096:Kcnb2	UTSW	1	15,781,068 (GRCm39)	missense	probably benign	0.45
R5444:Kcnb2	UTSW	1	15,781,716 (GRCm39)	missense	probably benign
R5926:Kcnb2	UTSW	1	15,383,235 (GRCm39)	missense	probably benign	0.01
R6010:Kcnb2	UTSW	1	15,780,790 (GRCm39)	missense	possibly damaging	0.85
R6371:Kcnb2	UTSW	1	15,781,436 (GRCm39)	missense	probably benign
R6724:Kcnb2	UTSW	1	15,780,664 (GRCm39)	missense	probably damaging	1.00
R6981:Kcnb2	UTSW	1	15,780,480 (GRCm39)	missense	probably damaging	1.00
R7043:Kcnb2	UTSW	1	15,383,150 (GRCm39)	missense	probably benign
R7352:Kcnb2	UTSW	1	15,780,835 (GRCm39)	missense	probably benign
R7419:Kcnb2	UTSW	1	15,781,251 (GRCm39)	missense	possibly damaging	0.94
R7425:Kcnb2	UTSW	1	15,780,031 (GRCm39)	missense	probably damaging	1.00
R7606:Kcnb2	UTSW	1	15,383,064 (GRCm39)	missense	probably damaging	1.00
R7978:Kcnb2	UTSW	1	15,780,837 (GRCm39)	missense	probably benign	0.15
R7983:Kcnb2	UTSW	1	15,383,004 (GRCm39)	missense	probably damaging	0.98
R8115:Kcnb2	UTSW	1	15,781,851 (GRCm39)	makesense	probably null
R8156:Kcnb2	UTSW	1	15,780,280 (GRCm39)	missense	probably damaging	1.00
R8408:Kcnb2	UTSW	1	15,781,777 (GRCm39)	missense	probably damaging	1.00
R8439:Kcnb2	UTSW	1	15,382,934 (GRCm39)	missense	probably damaging	1.00
R8726:Kcnb2	UTSW	1	15,780,876 (GRCm39)	missense	probably benign	0.00
R9274:Kcnb2	UTSW	1	15,781,723 (GRCm39)	missense	probably benign
R9321:Kcnb2	UTSW	1	15,779,793 (GRCm39)	missense	possibly damaging	0.46
R9563:Kcnb2	UTSW	1	15,779,737 (GRCm39)	missense	probably damaging	1.00
R9633:Kcnb2	UTSW	1	15,781,444 (GRCm39)	missense	probably benign
R9709:Kcnb2	UTSW	1	15,780,523 (GRCm39)	missense	probably benign	0.31
V7580:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
V7581:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
V7582:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
V7583:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.07
Z1088:Kcnb2	UTSW	1	15,781,252 (GRCm39)	missense	probably benign	0.01
Z1088:Kcnb2	UTSW	1	15,780,315 (GRCm39)	missense	probably benign	0.03
Z1177:Kcnb2	UTSW	1	15,781,182 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GGCAGCATCGTTTCTATGAAC -3'
(R):5'- TGTGGGCAGATCACCTCTTC -3'

Sequencing Primer
(F):5'- CGTTTCTATGAACTTAAAGGATGCC -3'
(R):5'- TACACACATGGCCTCTCAGG -3'

Posted On

2021-03-08