Mutagenetix > Incidental Mutation

Incidental Mutation 'R4766:Kcnmb2'

366123

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

042407-MU

Accession Numbers

Essential gene?

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

Stock #

R4766 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31956656-32254329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32236016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 88 (N88K)

Ref Sequence

ENSEMBL: ENSMUSP00000141955 (fasta)

Gene Model

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

AlphaFold

Q9CZM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000119310
AA Change: N88K

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

SMART Domains

Protein: ENSMUSP00000112531
Gene: ENSMUSG00000037610
AA Change: N88K

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 damaging
Transcript: ENSMUST00000119970
AA Change: N88K

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

SMART Domains

Protein: ENSMUSP00000113234
Gene: ENSMUSG00000037610
AA Change: N88K

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 damaging
Transcript: ENSMUST00000178668
AA Change: N88K

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

SMART Domains

Protein: ENSMUSP00000136596
Gene: ENSMUSG00000037610
AA Change: N88K

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 damaging
Transcript: ENSMUST00000191869
AA Change: N88K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141955
Gene: ENSMUSG00000037610
AA Change: N88K

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 damaging
Transcript: ENSMUST00000192429
AA Change: N88K

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

SMART Domains

Protein: ENSMUSP00000141656
Gene: ENSMUSG00000037610
AA Change: N88K

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

Meta Mutation Damage Score

0.3653

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

97% (87/90)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,245,502 (GRCm39)	V1584I	probably benign	Het
Adamts12	A	G	15: 11,285,987 (GRCm39)	D732G	probably benign	Het
Agpat4	A	G	17: 12,370,637 (GRCm39)		probably benign	Het
AI182371	T	C	2: 34,985,829 (GRCm39)	D140G	possibly damaging	Het
Apol11b	T	A	15: 77,519,133 (GRCm39)	T316S	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bard1	T	C	1: 71,114,333 (GRCm39)	E216G	probably benign	Het
Bdp1	C	A	13: 100,186,376 (GRCm39)	R1692L	probably damaging	Het
Capn10	T	C	1: 92,871,141 (GRCm39)	I101T	probably damaging	Het
Ccdc175	C	T	12: 72,158,979 (GRCm39)	M653I	probably benign	Het
Ccdc9b	C	A	2: 118,590,058 (GRCm39)	R262L	probably damaging	Het
Ccr8	G	A	9: 119,923,530 (GRCm39)	C215Y	probably damaging	Het
Cct3	T	A	3: 88,219,092 (GRCm39)	L241*	probably null	Het
Cd2ap	A	T	17: 43,163,350 (GRCm39)	I25N	probably damaging	Het
Cdh19	T	C	1: 110,820,990 (GRCm39)	K583E	probably benign	Het
Cela3a	A	G	4: 137,129,986 (GRCm39)	S212P	unknown	Het
Cfap44	T	A	16: 44,236,246 (GRCm39)		probably null	Het
Clca3a1	A	T	3: 144,455,473 (GRCm39)	L440Q	probably damaging	Het
Crybg2	A	G	4: 133,816,663 (GRCm39)	Y1676C	probably damaging	Het
Dscam	T	C	16: 96,445,188 (GRCm39)	D1501G	probably benign	Het
Eml6	C	A	11: 29,755,757 (GRCm39)	L832F	probably benign	Het
Enpp3	A	G	10: 24,649,825 (GRCm39)	L867P	probably damaging	Het
Erbb3	A	G	10: 128,422,107 (GRCm39)	Y46H	possibly damaging	Het
Fads3	T	C	19: 10,033,384 (GRCm39)	I342T	possibly damaging	Het
Flvcr1	A	T	1: 190,753,303 (GRCm39)	S290T	probably benign	Het
Fut9	A	G	4: 25,799,191 (GRCm39)		probably benign	Het
Gad2	C	T	2: 22,512,679 (GRCm39)	A2V	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm10715	T	G	9: 3,038,073 (GRCm39)		probably benign	Het
Herc1	T	G	9: 66,349,211 (GRCm39)	D2023E	probably benign	Het
Hsd3b3	A	G	3: 98,649,801 (GRCm39)	L174P	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,078,302 (GRCm39)		probably benign	Het
Iqcf3	A	G	9: 106,438,148 (GRCm39)		probably null	Het
Kcna4	G	A	2: 107,126,888 (GRCm39)	V541M	probably damaging	Het
Kcnj11	T	C	7: 45,749,240 (GRCm39)	T28A	probably benign	Het
Kdm2a	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCTTCCTCCTCCTC	19: 4,374,535 (GRCm39)		probably benign	Het
Krt1c	T	C	15: 101,722,395 (GRCm39)	E430G	probably damaging	Het
Lins1	C	T	7: 66,360,389 (GRCm39)	L384F	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mfge8	T	C	7: 78,784,273 (GRCm39)	N389D	probably damaging	Het
Mug1	C	T	6: 121,861,213 (GRCm39)	T1278I	probably benign	Het
Myh9	T	C	15: 77,692,077 (GRCm39)	M161V	probably damaging	Het
Myl7	T	A	11: 5,848,171 (GRCm39)	Y61F	probably benign	Het
Nlrp4d	A	T	7: 10,096,706 (GRCm39)		unknown	Het
Nol3	A	G	8: 106,008,565 (GRCm39)		probably null	Het
Nup85	T	A	11: 115,468,751 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,903,568 (GRCm39)	T7619S	probably damaging	Het
Or2t49	T	A	11: 58,392,494 (GRCm39)	N296I	probably damaging	Het
Or4k48	T	C	2: 111,476,226 (GRCm39)	M39V	probably benign	Het
Or52a24	C	T	7: 103,381,457 (GRCm39)	T108I	possibly damaging	Het
Or7g26	G	A	9: 19,230,141 (GRCm39)	V104I	probably benign	Het
Pax5	T	A	4: 44,679,494 (GRCm39)	I184F	probably damaging	Het
Pcdha7	T	A	18: 37,107,560 (GRCm39)	V195D	probably damaging	Het
Phf3	A	T	1: 30,853,020 (GRCm39)		probably benign	Het
Pla2g15	G	T	8: 106,889,703 (GRCm39)	G325V	probably damaging	Het
Ppp1r21	T	C	17: 88,880,043 (GRCm39)	F487L	probably benign	Het
Ppp1r9a	A	G	6: 5,157,016 (GRCm39)	I965V	probably benign	Het
Ptpru	A	G	4: 131,548,275 (GRCm39)	V74A	probably damaging	Het
Rif1	T	A	2: 51,988,946 (GRCm39)	Y780N	probably damaging	Het
Rps25	T	A	9: 44,320,046 (GRCm39)	Y23N	possibly damaging	Het
Ryr1	T	C	7: 28,785,258 (GRCm39)	D1811G	probably damaging	Het
Scamp5	T	G	9: 57,359,319 (GRCm39)		probably null	Het
Senp1	T	C	15: 97,943,777 (GRCm39)	D602G	probably damaging	Het
Sh2b2	T	G	5: 136,260,811 (GRCm39)	D135A	probably damaging	Het
Slc26a8	G	A	17: 28,857,635 (GRCm39)	T836M	probably benign	Het
Slfn4	T	G	11: 83,077,647 (GRCm39)	I145S	possibly damaging	Het
Spag6l	G	A	16: 16,595,254 (GRCm39)	T377I	probably benign	Het
Spdye4b	T	C	5: 143,182,089 (GRCm39)	F129S	probably damaging	Het
Sspo	G	A	6: 48,447,514 (GRCm39)	G2360E	probably benign	Het
Taar2	A	T	10: 23,816,669 (GRCm39)	I70F	probably damaging	Het
Taar7e	A	G	10: 23,914,464 (GRCm39)	N318S	probably damaging	Het
Tor1a	C	A	2: 30,857,742 (GRCm39)	R42L	probably benign	Het
Trdn	A	T	10: 33,350,502 (GRCm39)	Q690H	probably benign	Het
Trim56	C	A	5: 137,141,579 (GRCm39)	V646L	probably benign	Het
Tspan15	T	A	10: 62,027,323 (GRCm39)	K165I	probably benign	Het
Usp24	A	G	4: 106,273,245 (GRCm39)	Y2210C	probably damaging	Het
Usp45	A	G	4: 21,797,307 (GRCm39)	T76A	probably damaging	Het
Vps13c	T	A	9: 67,785,506 (GRCm39)		probably null	Het
Zfp512b	T	C	2: 181,226,888 (GRCm39)		probably benign	Het
Zyx	C	A	6: 42,333,093 (GRCm39)		probably null	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
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

PCR Primer
(F):5'- TCACCAAGAAGGCTCTCAGG -3'
(R):5'- AGCCAAACTCCTACCTTTTGATTG -3'

Sequencing Primer
(F):5'- CATGCCGAAAGCTTGTATGC -3'
(R):5'- GATTGATCTTCATGGTCTCTTCCGTG -3'

Posted On

2015-12-21