Mutagenetix > Incidental Mutation

Incidental Mutation 'R0334:Kcnmb2'

65206

Institutional Source

Beutler Lab

Gene Symbol

Kcnmb2

Ensembl Gene

ENSMUSG00000037610

Gene Name

potassium large conductance calcium-activated channel, subfamily M, beta member 2

Synonyms

3110031N04Rik, 2700049B16Rik

MMRRC Submission

038543-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0334 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31956656-32254329 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 32252508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119310] [ENSMUST00000119970] [ENSMUST00000178668] [ENSMUST00000191869] [ENSMUST00000192429] [ENSMUST00000194796]

AlphaFold

Q9CZM9

Predicted Effect

silent
Transcript: ENSMUST00000119310

SMART Domains

Protein: ENSMUSP00000112531
Gene: ENSMUSG00000037610

Domain	Start	End	E-Value	Type
Pfam:KcnmB2_inactiv	1	32	4.5e-22	PFAM
Pfam:CaKB	38	229	3e-87	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000119970

SMART Domains

Protein: ENSMUSP00000113234
Gene: ENSMUSG00000037610

Domain	Start	End	E-Value	Type
Pfam:KcnmB2_inactiv	1	32	3.7e-26	PFAM
Pfam:CaKB	33	230	9.6e-96	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000178668

SMART Domains

Protein: ENSMUSP00000136596
Gene: ENSMUSG00000037610

Domain	Start	End	E-Value	Type
Pfam:KcnmB2_inactiv	1	32	3.7e-26	PFAM
Pfam:CaKB	33	230	9.6e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191869

SMART Domains

Protein: ENSMUSP00000141955
Gene: ENSMUSG00000037610

Domain	Start	End	E-Value	Type
Pfam:KcnmB2_inactiv	1	32	1.9e-22	PFAM
Pfam:CaKB	33	162	9.3e-60	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000192429

SMART Domains

Protein: ENSMUSP00000141656
Gene: ENSMUSG00000037610

Domain	Start	End	E-Value	Type
Pfam:KcnmB2_inactiv	1	32	3.7e-26	PFAM
Pfam:CaKB	33	230	9.6e-96	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000194796

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants of this gene. Additional variants are discussed in the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous inactivation of this gene abolishes inactivation of BK currents in mouse adrenal chromaffin cells and results in slow-wave burst activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,508,105 (GRCm39)	N87S	probably benign	Het
Ap2b1	T	C	11: 83,258,700 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,468,029 (GRCm39)	Y1724H	probably damaging	Het
Arhgef10l	G	A	4: 140,311,237 (GRCm39)	Q243*	probably null	Het
Atp8a2	A	T	14: 59,928,961 (GRCm39)	F1031Y	probably damaging	Het
Bmp8b	A	G	4: 123,008,553 (GRCm39)		probably null	Het
Brinp2	G	T	1: 158,123,155 (GRCm39)	T37K	probably benign	Het
Bsph1	T	A	7: 13,184,864 (GRCm39)	L9*	probably null	Het
C6	T	G	15: 4,784,849 (GRCm39)	N238K	probably benign	Het
Cbs	T	C	17: 31,838,130 (GRCm39)	D373G	probably damaging	Het
Clec4a3	T	C	6: 122,946,329 (GRCm39)	F191S	possibly damaging	Het
Cpz	A	G	5: 35,661,025 (GRCm39)	V530A	probably damaging	Het
Ctsc	G	T	7: 87,927,550 (GRCm39)	S47I	possibly damaging	Het
Cyp7b1	T	G	3: 18,157,960 (GRCm39)	Y53S	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Defb4	T	C	8: 19,251,220 (GRCm39)	I29T	probably benign	Het
Disc1	A	T	8: 125,987,836 (GRCm39)		probably null	Het
Dnah2	A	G	11: 69,327,662 (GRCm39)	M3429T	probably damaging	Het
Dnah7a	A	T	1: 53,472,213 (GRCm39)	I3518N	possibly damaging	Het
Dnah8	A	T	17: 31,090,325 (GRCm39)	H4609L	probably damaging	Het
Evi5	C	A	5: 107,968,401 (GRCm39)	C182F	probably damaging	Het
Fam149b	G	A	14: 20,413,492 (GRCm39)	R237H	probably damaging	Het
Fut8	T	A	12: 77,440,536 (GRCm39)	D174E	possibly damaging	Het
Ghr	T	C	15: 3,370,580 (GRCm39)		probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gpr176	T	C	2: 118,110,189 (GRCm39)	S357G	probably benign	Het
Grwd1	A	T	7: 45,476,601 (GRCm39)		probably null	Het
H2-T24	A	G	17: 36,325,772 (GRCm39)	V273A	possibly damaging	Het
Hdac4	A	C	1: 91,883,760 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,895,802 (GRCm39)	T1017A	probably damaging	Het
Hsd11b1	T	C	1: 192,924,476 (GRCm39)		probably benign	Het
Igsf23	T	C	7: 19,675,678 (GRCm39)	S143G	probably benign	Het
Kbtbd12	T	A	6: 88,594,888 (GRCm39)	Y314F	probably damaging	Het
Kdm5b	A	G	1: 134,532,260 (GRCm39)	I479M	probably damaging	Het
Kidins220	A	G	12: 25,058,068 (GRCm39)	T600A	probably damaging	Het
Mrgprb2	A	C	7: 48,202,077 (GRCm39)	I216S	probably damaging	Het
Muc21	A	G	17: 35,933,614 (GRCm39)		probably benign	Het
Myo1g	A	G	11: 6,461,084 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 89,780,412 (GRCm39)		probably null	Het
Or2ag2	A	G	7: 106,485,622 (GRCm39)	V134A	probably benign	Het
Or8b54	A	T	9: 38,686,535 (GRCm39)		probably null	Het
Or8g26	A	G	9: 39,095,980 (GRCm39)	I169V	probably benign	Het
Pdia5	A	T	16: 35,284,760 (GRCm39)	S66T	possibly damaging	Het
Plec	T	C	15: 76,062,206 (GRCm39)	E2604G	probably damaging	Het
Plekha6	G	T	1: 133,209,918 (GRCm39)	A654S	probably benign	Het
Pnpla2	G	A	7: 141,039,433 (GRCm39)		probably null	Het
Pramel19	T	C	4: 101,798,781 (GRCm39)	F251L	probably benign	Het
Prb1c	T	A	6: 132,341,021 (GRCm39)	Q17L	unknown	Het
Prkdc	A	G	16: 15,554,663 (GRCm39)	D2128G	probably benign	Het
Rabggta	A	T	14: 55,958,268 (GRCm39)	L131Q	probably damaging	Het
Rbks	A	T	5: 31,781,863 (GRCm39)	Y312*	probably null	Het
Rnf139	A	G	15: 58,771,322 (GRCm39)	Y449C	probably damaging	Het
Sanbr	A	G	11: 23,567,129 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,524,931 (GRCm39)	V1058A	possibly damaging	Het
Sema3a	A	T	5: 13,607,268 (GRCm39)	N321I	probably damaging	Het
Slit3	T	A	11: 35,469,928 (GRCm39)	V310E	probably damaging	Het
Slitrk5	T	C	14: 111,918,256 (GRCm39)	S627P	probably benign	Het
Stat2	T	A	10: 128,113,736 (GRCm39)	F172I	probably damaging	Het
Tchh	C	A	3: 93,352,923 (GRCm39)	R788S	unknown	Het
Tnks	T	A	8: 35,320,413 (GRCm39)	K753*	probably null	Het
Trank1	T	A	9: 111,194,421 (GRCm39)	V815D	probably benign	Het
Trank1	T	A	9: 111,222,008 (GRCm39)	I2915N	probably damaging	Het
Trpc6	T	C	9: 8,610,344 (GRCm39)	S271P	probably damaging	Het
Trpm5	T	C	7: 142,640,613 (GRCm39)	Q213R	probably benign	Het
Ulk3	C	T	9: 57,501,510 (GRCm39)		probably benign	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Wnt3a	A	G	11: 59,147,144 (GRCm39)	S181P	probably damaging	Het
Yipf3	T	C	17: 46,559,238 (GRCm39)	F22S	possibly damaging	Het
Zbtb40	A	T	4: 136,713,867 (GRCm39)	H1094Q	probably damaging	Het

Other mutations in Kcnmb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01909:Kcnmb2	APN	3	32,252,512 (GRCm39)	unclassified	probably benign
IGL02153:Kcnmb2	APN	3	32,232,993 (GRCm39)	missense	probably damaging	1.00
IGL02211:Kcnmb2	APN	3	32,252,483 (GRCm39)	missense	probably damaging	1.00
IGL03019:Kcnmb2	APN	3	32,252,299 (GRCm39)	missense	probably damaging	1.00
IGL03095:Kcnmb2	APN	3	32,252,276 (GRCm39)	makesense	probably null
R1781:Kcnmb2	UTSW	3	32,233,152 (GRCm39)	critical splice donor site	probably null
R2064:Kcnmb2	UTSW	3	32,252,437 (GRCm39)	missense	probably damaging	0.99
R3858:Kcnmb2	UTSW	3	32,252,450 (GRCm39)	missense	probably damaging	1.00
R4371:Kcnmb2	UTSW	3	32,210,251 (GRCm39)	splice site	probably null
R4766:Kcnmb2	UTSW	3	32,236,016 (GRCm39)	missense	probably damaging	1.00
R5493:Kcnmb2	UTSW	3	32,252,291 (GRCm39)	missense	probably damaging	0.97
R6063:Kcnmb2	UTSW	3	32,233,141 (GRCm39)	missense	probably damaging	1.00
R6240:Kcnmb2	UTSW	3	32,236,045 (GRCm39)	missense	probably damaging	1.00
R6928:Kcnmb2	UTSW	3	32,253,190 (GRCm39)	missense	probably benign	0.05
R6939:Kcnmb2	UTSW	3	32,252,465 (GRCm39)	missense	probably damaging	1.00
R7683:Kcnmb2	UTSW	3	32,252,465 (GRCm39)	missense	probably damaging	1.00
R8808:Kcnmb2	UTSW	3	32,252,266 (GRCm39)	missense	probably benign
R9194:Kcnmb2	UTSW	3	32,236,174 (GRCm39)	missense	probably benign	0.12
R9457:Kcnmb2	UTSW	3	32,236,018 (GRCm39)	missense	probably benign	0.07

Predicted Primers

Posted On

2013-08-08