Mutagenetix > Incidental Mutation

Incidental Mutation 'R8808:Kcnmb2'

672197

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

068644-MU

Accession Numbers

Essential gene?

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

Stock #

R8808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31956656-32254329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 32252266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 156 (M156L)

Ref Sequence

ENSEMBL: ENSMUSP00000112531 (fasta)

Gene Model

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

AlphaFold

Q9CZM9

Predicted Effect

probably benign
Transcript: ENSMUST00000119310
AA Change: M156L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112531
Gene: ENSMUSG00000037610
AA Change: M156L

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
AA Change: M156L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113234
Gene: ENSMUSG00000037610
AA Change: M156L

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
AA Change: M156L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136596
Gene: ENSMUSG00000037610
AA Change: M156L

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: M156L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141955
Gene: ENSMUSG00000037610
AA Change: M156L

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
AA Change: M156L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141656
Gene: ENSMUSG00000037610
AA Change: M156L

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: ENSMUST00000194796

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

95% (60/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,775,874 (GRCm39)	P1688S	probably benign	Het
4933412E24Rik	T	C	15: 59,887,919 (GRCm39)	T174A	probably benign	Het
Actl10	T	A	2: 154,395,068 (GRCm39)	L340Q	probably damaging	Het
Adra1d	T	C	2: 131,403,397 (GRCm39)	E231G	probably damaging	Het
Agt	T	A	8: 125,291,028 (GRCm39)	D93V	probably benign	Het
Als2cl	G	T	9: 110,718,282 (GRCm39)	R341L	possibly damaging	Het
Ankrd63	G	T	2: 118,533,549 (GRCm39)	A124E	unknown	Het
Aqp8	T	C	7: 123,065,922 (GRCm39)	L239P	probably damaging	Het
Arhgef11	A	G	3: 87,593,336 (GRCm39)	E85G	probably damaging	Het
Cacng4	T	A	11: 107,685,209 (GRCm39)	I28F	possibly damaging	Het
Cc2d1a	T	C	8: 84,861,599 (GRCm39)	D741G	probably damaging	Het
Cct8l1	T	A	5: 25,722,210 (GRCm39)	N308K	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Chrna5	T	A	9: 54,905,348 (GRCm39)	D53E	probably benign	Het
Dap3	A	T	3: 88,835,514 (GRCm39)		probably null	Het
Disp2	A	G	2: 118,620,489 (GRCm39)	Y407C	probably damaging	Het
Dnah1	A	G	14: 31,008,771 (GRCm39)	M2001T	probably benign	Het
Dysf	C	G	6: 83,996,466 (GRCm39)		probably benign	Het
Eif2ak1	A	T	5: 143,816,264 (GRCm39)	K187N	probably damaging	Het
Ethe1	T	C	7: 24,294,496 (GRCm39)	S100P	probably damaging	Het
Fam186a	G	C	15: 99,842,604 (GRCm39)	I1213M	possibly damaging	Het
Gbp9	A	G	5: 105,232,875 (GRCm39)	F259S	probably damaging	Het
Heatr5b	G	A	17: 79,072,834 (GRCm39)	H1610Y	possibly damaging	Het
Hk2	T	A	6: 82,705,747 (GRCm39)	D852V	probably benign	Het
Hmcn1	T	A	1: 150,531,570 (GRCm39)	Q3233L	possibly damaging	Het
Htt	T	A	5: 35,046,791 (GRCm39)	V2369E	probably benign	Het
Il9	C	A	13: 56,629,942 (GRCm39)	E35*	probably null	Het
Itga8	A	T	2: 12,137,328 (GRCm39)	C933*	probably null	Het
Jak3	A	G	8: 72,138,164 (GRCm39)	K872E	possibly damaging	Het
Kdm4a	C	T	4: 117,999,480 (GRCm39)	V981I	unknown	Het
Klhl38	A	T	15: 58,178,225 (GRCm39)	*582R	probably null	Het
Map3k19	A	G	1: 127,751,866 (GRCm39)	F495S	probably damaging	Het
Mpeg1	T	A	19: 12,440,443 (GRCm39)	W634R	probably damaging	Het
Mrpl4	T	A	9: 20,918,978 (GRCm39)	Y202N	possibly damaging	Het
Nme8	A	G	13: 19,859,978 (GRCm39)	V214A	probably damaging	Het
Or4k36	A	T	2: 111,146,239 (GRCm39)	R138S	possibly damaging	Het
Or8k33	G	A	2: 86,384,297 (GRCm39)	T57M	probably damaging	Het
Pcdhgb6	A	G	18: 37,876,451 (GRCm39)	I386M	possibly damaging	Het
Pitpnm1	T	A	19: 4,162,356 (GRCm39)	V1062E	possibly damaging	Het
Plekhm3	G	A	1: 64,922,355 (GRCm39)	R607W	possibly damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Prap1	C	A	7: 139,676,982 (GRCm39)	H141Q	probably damaging	Het
Prep	T	A	10: 44,971,252 (GRCm39)	Y187*	probably null	Het
Rergl	T	G	6: 139,478,865 (GRCm39)	E3A	probably benign	Het
Rnf19a	A	T	15: 36,242,021 (GRCm39)	S673T	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
St18	G	A	1: 6,880,826 (GRCm39)	E440K	probably damaging	Het
Syne1	T	A	10: 5,309,074 (GRCm39)	Q645L	probably damaging	Het
Tmcc1	C	A	6: 116,111,099 (GRCm39)	V61L		Het
Tmcc1	A	T	6: 116,111,098 (GRCm39)	V61E		Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tmem201	C	A	4: 149,814,138 (GRCm39)	R154L	possibly damaging	Het
Tmem71	G	A	15: 66,410,655 (GRCm39)	A239V	possibly damaging	Het
Tpgs2	A	G	18: 25,284,275 (GRCm39)	W78R	probably damaging	Het
Tssc4	T	C	7: 142,623,436 (GRCm39)	V22A	unknown	Het
Ttn	T	A	2: 76,723,128 (GRCm39)	E6496D	unknown	Het
Ttn	T	A	2: 76,697,539 (GRCm39)	L227F		Het
Vps50	G	T	6: 3,522,338 (GRCm39)	G169*	probably null	Het
Yy1	CGGCGACCACGGCGGCGGCGGGGGCG	CGGCG	12: 108,759,506 (GRCm39)		probably benign	Het
Zfp407	T	C	18: 84,361,185 (GRCm39)	K1703R	probably benign	Het
Zfp616	T	G	11: 73,976,523 (GRCm39)	C931G	probably damaging	Het
Zfp949	G	A	9: 88,451,417 (GRCm39)	C329Y	probably damaging	Het
Zswim5	T	A	4: 116,822,887 (GRCm39)	D452E	probably benign	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
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
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'- AGACGCATCATCCTTAACTATAGC -3'
(R):5'- AGTTTCACCATAGCAACGATTG -3'

Sequencing Primer
(F):5'- TGTGATGTGAGATTGTTATACCAAAC -3'
(R):5'- GATTGCCACACCCCCAG -3'

Posted On

2021-04-30