Mutagenetix > Incidental Mutation

Incidental Mutation 'R6928:Kcnmb2'

539827

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

045045-MU

Accession Numbers

Essential gene?

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

Stock #

R6928 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31956656-32254329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32253190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 177 (S177P)

Ref Sequence

ENSEMBL: ENSMUSP00000141955 (fasta)

Gene Model

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

AlphaFold

Q9CZM9

Predicted Effect

probably benign
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

probably benign
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

probably benign
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
AA Change: S177P

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141955
Gene: ENSMUSG00000037610
AA Change: S177P

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

probably benign
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 benign
Transcript: ENSMUST00000194796

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.5%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,456,257 (GRCm39)	D215G	possibly damaging	Het
Asb3	A	T	11: 30,948,326 (GRCm39)	M40L	probably damaging	Het
Aspg	G	A	12: 112,093,123 (GRCm39)	V547M	possibly damaging	Het
Aspm	T	A	1: 139,407,944 (GRCm39)	L2277*	probably null	Het
Atp7b	A	G	8: 22,484,828 (GRCm39)	S1295P	probably benign	Het
Cdca2	A	G	14: 67,943,193 (GRCm39)	S199P	probably damaging	Het
Cdh1	A	G	8: 107,387,642 (GRCm39)	E514G	possibly damaging	Het
Cenpk	G	T	13: 104,365,500 (GRCm39)		probably benign	Het
Col6a5	C	A	9: 105,817,118 (GRCm39)	V398L	unknown	Het
Colec10	A	T	15: 54,326,002 (GRCm39)	K277N	probably damaging	Het
Cryzl2	T	G	1: 157,298,357 (GRCm39)	S249A	probably benign	Het
Cspg4	T	A	9: 56,805,164 (GRCm39)	Y1992N	possibly damaging	Het
Drd3	G	T	16: 43,641,683 (GRCm39)	R333L	probably benign	Het
Espl1	C	T	15: 102,207,342 (GRCm39)	R269C	probably benign	Het
Esr2	C	T	12: 76,212,252 (GRCm39)	C188Y	probably damaging	Het
Focad	A	G	4: 88,267,112 (GRCm39)	D1041G	unknown	Het
Frem3	T	C	8: 81,337,911 (GRCm39)	F68S	possibly damaging	Het
Gapdh	A	G	6: 125,139,634 (GRCm39)	V212A	probably damaging	Het
Gzmb	T	C	14: 56,497,734 (GRCm39)	K169E	probably benign	Het
Hexd	T	A	11: 121,102,880 (GRCm39)	F33I	possibly damaging	Het
Hsd3b6	T	C	3: 98,718,269 (GRCm39)	I32V	probably benign	Het
Jcad	T	C	18: 4,673,372 (GRCm39)	V378A	probably benign	Het
Lrriq1	A	T	10: 103,050,800 (GRCm39)	S651T	possibly damaging	Het
Map3k2	T	C	18: 32,340,593 (GRCm39)		probably null	Het
Mib1	T	G	18: 10,802,282 (GRCm39)	S870A	probably benign	Het
Moap1	T	A	12: 102,708,871 (GRCm39)	N226I	probably damaging	Het
Moxd1	T	A	10: 24,176,186 (GRCm39)	N547K	probably damaging	Het
Mtmr9	A	G	14: 63,781,042 (GRCm39)	V16A	probably benign	Het
Nme1	T	C	11: 93,850,229 (GRCm39)	Y151C	probably damaging	Het
Nwd1	T	C	8: 73,408,653 (GRCm39)	F879L	probably benign	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or52ac1	A	T	7: 104,245,796 (GRCm39)	Y197*	probably null	Het
Or5ac25	C	A	16: 59,181,826 (GRCm39)	G252C	probably damaging	Het
Or5b102	A	T	19: 13,041,348 (GRCm39)	H191L	probably benign	Het
Or5b99	A	G	19: 12,977,202 (GRCm39)	N284S	probably damaging	Het
Or8d23	T	C	9: 38,841,862 (GRCm39)	Y132H	probably damaging	Het
Or8g21	T	C	9: 38,905,928 (GRCm39)	M268V	probably benign	Het
Pcdhb21	A	G	18: 37,647,474 (GRCm39)	E201G	probably damaging	Het
Plscr1	T	C	9: 92,152,004 (GRCm39)	V301A	possibly damaging	Het
Psg28	A	T	7: 18,157,003 (GRCm39)	S411T	possibly damaging	Het
Rif1	T	C	2: 51,985,973 (GRCm39)	W653R	probably damaging	Het
Rnd3	T	A	2: 51,022,518 (GRCm39)	I175L	probably benign	Het
Rtn4	A	G	11: 29,656,791 (GRCm39)	E199G	possibly damaging	Het
Sgpp1	T	C	12: 75,763,344 (GRCm39)	Y279C	probably damaging	Het
Slc2a13	A	G	15: 91,160,382 (GRCm39)	I524T	probably damaging	Het
Speer4a2	A	G	5: 26,290,586 (GRCm39)		probably null	Het
Spg11	C	T	2: 121,900,385 (GRCm39)	V1556I	probably benign	Het
Spopfm1	T	A	3: 94,173,855 (GRCm39)	C288S	probably benign	Het
Srebf2	C	T	15: 82,087,924 (GRCm39)	R215*	probably null	Het
Tdpoz8	G	A	3: 92,981,267 (GRCm39)	C95Y	probably damaging	Het
Tmem19	T	C	10: 115,183,179 (GRCm39)	N147S	possibly damaging	Het
Tpr	T	C	1: 150,284,536 (GRCm39)	S408P	possibly damaging	Het
Trav13d-4	C	T	14: 53,310,618 (GRCm39)	T53I	probably damaging	Het
Trf	T	A	9: 103,099,307 (GRCm39)	R168W	possibly damaging	Het
Trim11	A	G	11: 58,879,669 (GRCm39)	K273R	probably damaging	Het
Tsacc	T	A	3: 88,190,247 (GRCm39)	M68L	probably benign	Het
Ttn	T	A	2: 76,584,869 (GRCm39)	M22110L	probably benign	Het
Zfp160	G	T	17: 21,261,724 (GRCm39)	G104V	probably benign	Het
Zfp582	T	C	7: 6,357,266 (GRCm39)	Y360H	probably damaging	Het
Zranb1	G	A	7: 132,568,323 (GRCm39)	R301H	possibly 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
R0334:Kcnmb2	UTSW	3	32,252,508 (GRCm39)	splice site	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
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

PCR Primer
(F):5'- AGGAGTTGTTTCCTGACTAAAGG -3'
(R):5'- ATGATAGCTGGCCCTGACAG -3'

Sequencing Primer
(F):5'- ATTATTTTTACCACAGCACTGTAAGG -3'
(R):5'- TGGCCCTGACAGACTCAC -3'

Posted On

2018-11-06