Mutagenetix > Incidental Mutation

Incidental Mutation 'R7606:Kcnb2'

588281

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 #

R7606 (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 15312840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 130 (E130G)

Ref Sequence

ENSEMBL: ENSMUSP00000126656 (fasta)

Gene Model

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

AlphaFold

A6H8H5

Predicted Effect

probably damaging
Transcript: ENSMUST00000170146
AA Change: E130G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000175681
AA Change: E130G

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

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: E130G

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: 99.0%

Validation Efficiency

100% (59/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 60,036,035		probably null	Het
Adat1	T	C	8: 111,982,604	K196E	possibly damaging	Het
Aire	T	C	10: 78,037,933	D314G	probably damaging	Het
Atp11a	C	T	8: 12,844,427	T674I	probably damaging	Het
Atp8b1	T	C	18: 64,555,115	D644G	probably damaging	Het
Bag4	A	G	8: 25,769,305	S289P	probably damaging	Het
Bcat1	G	T	6: 145,048,632	H46Q	probably benign	Het
Btg4	A	G	9: 51,118,007	N164S	probably damaging	Het
Ccz1	G	A	5: 144,014,808	A2V	probably benign	Het
Cd209g	T	C	8: 4,136,839	L128P	probably damaging	Het
Col4a2	T	A	8: 11,443,571	M1380K	probably benign	Het
Cpox	T	C	16: 58,674,449	V283A	probably benign	Het
Dnah10	A	T	5: 124,817,712	D3504V	probably benign	Het
Eml1	A	T	12: 108,537,366	I741F	probably benign	Het
Fam171a2	A	G	11: 102,444,176	V45A	possibly damaging	Het
Fem1a	A	G	17: 56,256,946	D13G	probably damaging	Het
Fkbp14	A	G	6: 54,593,018	I9T	probably benign	Het
Golt1b	G	A	6: 142,392,342	G13D	probably damaging	Het
Heatr5b	T	C	17: 78,763,026	N1653D	probably benign	Het
Hrg	A	G	16: 22,951,123	M1V	probably null	Het
Itgb2	T	A	10: 77,556,161	I356N	probably damaging	Het
Kpna2	A	T	11: 106,992,058	F124Y	probably damaging	Het
Lyst	T	C	13: 13,637,475	I824T	probably damaging	Het
Meis2	T	C	2: 116,063,320	H38R	possibly damaging	Het
Mknk1	T	G	4: 115,877,994	I353S	probably damaging	Het
Mrc1	T	A	2: 14,238,144	I27N	probably damaging	Het
Mup4	T	C	4: 59,958,568	T111A	probably damaging	Het
Myo1f	T	C	17: 33,576,450	V53A	probably damaging	Het
Neb	T	G	2: 52,226,444	E994A		Het
Nlrc5	T	C	8: 94,477,117	M615T	possibly damaging	Het
Nup88	T	C	11: 70,961,615	E218G	possibly damaging	Het
Olfr1219	A	G	2: 89,075,297		probably benign	Het
Olfr1513	A	T	14: 52,349,963	F28I	probably benign	Het
Parp11	A	G	6: 127,470,760	D19G	probably benign	Het
Parp2	A	T	14: 50,820,030	T429S	probably damaging	Het
Pcdhb6	G	A	18: 37,335,606	E527K	probably damaging	Het
Pde8a	A	G	7: 81,332,967	Y778C	probably damaging	Het
Pea15a	T	C	1: 172,200,583		probably null	Het
Plcd3	A	G	11: 103,076,857	Y420H	probably damaging	Het
Ppp1ca	C	A	19: 4,193,089	S85R	possibly damaging	Het
Pth	A	C	7: 113,386,243	I13S	probably benign	Het
Rbm27	A	G	18: 42,327,513	T842A	probably damaging	Het
Rcbtb2	T	A	14: 73,182,366		probably null	Het
Rubcnl	C	T	14: 75,038,874	L323F	probably benign	Het
Ryr3	A	T	2: 112,645,245	Y4539*	probably null	Het
Scamp3	T	A	3: 89,181,218	F244I	probably damaging	Het
Sema4d	T	C	13: 51,723,622	D58G	probably benign	Het
Skor1	G	T	9: 63,145,382	A435E	probably damaging	Het
Slc35a4	A	G	18: 36,682,585	Y156C	probably benign	Het
Spryd7	T	C	14: 61,540,158	T158A	possibly damaging	Het
Srgap3	A	C	6: 112,739,376	I621S	probably benign	Het
Tbc1d31	A	G	15: 57,951,670	E581G	probably damaging	Het
Tcf4	C	T	18: 69,642,983	T318I	probably damaging	Het
Usf3	C	T	16: 44,218,943	T1262M	probably damaging	Het
Vcam1	T	C	3: 116,121,055	D316G	possibly damaging	Het
Vmn2r72	T	A	7: 85,751,154	E229V	possibly damaging	Het
Zfhx2	T	C	14: 55,066,663	E1288G	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
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
R9274:Kcnb2	UTSW	1	15711499	missense	probably benign
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'- TCCGCGACTGTAACACTCAC -3'
(R):5'- ATGTGTTCATACCTTTGCAGC -3'

Sequencing Primer
(F):5'- ACGAGAGTCTCCTGGAGGTG -3'
(R):5'- CACGGACGAGTTAGGTTTCTCCAG -3'

Posted On

2019-10-24