Mutagenetix > Incidental Mutation

Incidental Mutation 'R5493:Kcnmb2'

432158

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

043054-MU

Accession Numbers

Essential gene?

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

Stock #

R5493 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31956656-32254329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32252291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 164 (E164G)

Ref Sequence

ENSEMBL: ENSMUSP00000141656 (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: E164G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112531
Gene: ENSMUSG00000037610
AA Change: E164G

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: E164G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113234
Gene: ENSMUSG00000037610
AA Change: E164G

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: E164G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136596
Gene: ENSMUSG00000037610
AA Change: E164G

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

probably damaging
Transcript: ENSMUST00000192429
AA Change: E164G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141656
Gene: ENSMUSG00000037610
AA Change: E164G

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

0.2119

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

99% (80/81)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	A	G	16: 21,471,993 (GRCm39)	S236P	possibly damaging	Het
A830018L16Rik	C	T	1: 11,615,431 (GRCm39)	R135C	probably damaging	Het
Agpat3	A	G	10: 78,120,069 (GRCm39)	V155A	possibly damaging	Het
Aldh18a1	C	T	19: 40,539,734 (GRCm39)	R747Q	probably damaging	Het
Aloxe3	A	T	11: 69,019,443 (GRCm39)	R119*	probably null	Het
Asap1	A	G	15: 64,002,000 (GRCm39)	V460A	possibly damaging	Het
Bicral	C	A	17: 47,112,620 (GRCm39)	R860L	possibly damaging	Het
Cd180	T	A	13: 102,842,649 (GRCm39)	I565N	probably benign	Het
Cdk13	T	C	13: 17,978,147 (GRCm39)		probably benign	Het
Cdkn2d	T	C	9: 21,200,303 (GRCm39)	D156G	probably benign	Het
Clrn1	A	G	3: 58,753,837 (GRCm39)	S175P	probably damaging	Het
Coro7	A	G	16: 4,450,351 (GRCm39)	L535S	probably damaging	Het
Cse1l	A	G	2: 166,783,110 (GRCm39)		probably benign	Het
Cyp2a12	T	C	7: 26,728,550 (GRCm39)	L7P	unknown	Het
D130043K22Rik	A	G	13: 25,047,586 (GRCm39)	Y377C	probably damaging	Het
Dctn1	G	T	6: 83,159,546 (GRCm39)	R8L	possibly damaging	Het
Duox2	T	C	2: 122,111,977 (GRCm39)	Q1341R	probably damaging	Het
Eif2b3	A	G	4: 116,943,919 (GRCm39)	D447G	possibly damaging	Het
Eif4a3l1	C	G	6: 136,306,555 (GRCm39)	R339G	probably damaging	Het
Fbxw25	T	C	9: 109,481,984 (GRCm39)	Y234C	probably benign	Het
Gcnt2	A	G	13: 41,107,076 (GRCm39)	N315S	possibly damaging	Het
Gm20730	A	T	6: 43,058,746 (GRCm39)	V22E	possibly damaging	Het
Gm4847	T	A	1: 166,457,890 (GRCm39)	I488F	probably damaging	Het
Gmds	A	T	13: 32,124,488 (GRCm39)	M290K	probably benign	Het
Gtf3c1	T	C	7: 125,269,716 (GRCm39)	N699S	probably damaging	Het
Hk3	A	G	13: 55,158,984 (GRCm39)	V479A	probably damaging	Het
Ifnlr1	G	A	4: 135,432,877 (GRCm39)	V438M	probably benign	Het
Il12rb1	C	A	8: 71,262,483 (GRCm39)	P26T	probably benign	Het
Il4i1	G	T	7: 44,489,477 (GRCm39)	R414L	possibly damaging	Het
Ipo4	T	C	14: 55,868,327 (GRCm39)	N490S	probably benign	Het
Kcns1	G	A	2: 164,009,899 (GRCm39)	L287F	probably benign	Het
Kdm1a	ACC	AC	4: 136,284,732 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Knl1	T	A	2: 118,899,211 (GRCm39)	I304K	probably damaging	Het
Ksr2	G	T	5: 117,846,175 (GRCm39)	V681F	probably damaging	Het
Lypd2	T	C	15: 74,606,127 (GRCm39)	T4A	probably benign	Het
Man1a	A	G	10: 53,950,576 (GRCm39)	V182A	probably benign	Het
Or12j4	A	T	7: 140,046,720 (GRCm39)	D202V	probably damaging	Het
Or13e8	A	G	4: 43,696,225 (GRCm39)	F316S	possibly damaging	Het
Or2w2	A	T	13: 21,758,042 (GRCm39)	C195S	probably damaging	Het
Or51f5	A	T	7: 102,424,315 (GRCm39)	R195W	probably benign	Het
Or56b1b	T	C	7: 108,164,774 (GRCm39)	D76G	probably benign	Het
Pcdha2	C	A	18: 37,072,562 (GRCm39)	F64L	probably damaging	Het
Pgap3	G	C	11: 98,281,540 (GRCm39)	F168L	possibly damaging	Het
Pip5k1b	T	C	19: 24,416,439 (GRCm39)	N16S	probably benign	Het
Ppip5k1	T	A	2: 121,167,253 (GRCm39)	H41L	probably damaging	Het
Ppp1r9a	A	G	6: 5,159,702 (GRCm39)	R1080G	probably damaging	Het
Qrich2	A	C	11: 116,336,774 (GRCm39)		probably null	Het
Rbl2	C	T	8: 91,842,447 (GRCm39)	P1034L	probably damaging	Het
Rbpjl	GCC	GC	2: 164,256,330 (GRCm39)		probably null	Het
Rin2	A	G	2: 145,702,629 (GRCm39)	S442G	probably damaging	Het
Rtca	C	T	3: 116,293,280 (GRCm39)	R71Q	probably benign	Het
Serpind1	A	T	16: 17,157,902 (GRCm39)	N366I	probably damaging	Het
Shox2	C	G	3: 66,888,796 (GRCm39)	G32R	probably damaging	Het
Sp3	T	A	2: 72,768,466 (GRCm39)	N766Y	probably damaging	Het
Spag7	T	A	11: 70,560,059 (GRCm39)	S17C	probably null	Het
Stk25	A	T	1: 93,563,031 (GRCm39)	F7I	probably benign	Het
Tbx15	G	A	3: 99,259,880 (GRCm39)	G584S	probably benign	Het
Tenm2	T	C	11: 36,755,503 (GRCm39)	D165G	probably benign	Het
Tox2	C	A	2: 163,046,649 (GRCm39)	S42*	probably null	Het
Vmn1r39	A	G	6: 66,781,754 (GRCm39)	V188A	probably damaging	Het
Zbtb5	A	T	4: 44,993,941 (GRCm39)	M481K	probably benign	Het
Zfp26	T	C	9: 20,355,615 (GRCm39)	T56A	possibly damaging	Het
Zfp459	C	A	13: 67,556,498 (GRCm39)	C195F	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfp764	A	G	7: 127,004,105 (GRCm39)	I342T	probably benign	Het
Zfp942	T	C	17: 22,151,985 (GRCm39)	N7D	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
R4766:Kcnmb2	UTSW	3	32,236,016 (GRCm39)	missense	probably damaging	1.00
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'- GGGGCCCATTGGTTTGAATC -3'
(R):5'- TTGCATATAGGACAGCGTTTGC -3'

Sequencing Primer
(F):5'- GGCCCATTGGTTTGAATCTATAAAAG -3'
(R):5'- GTTGGATCCTCTCACAAAGCAGG -3'

Posted On

2016-10-05