Incidental Mutation 'R0334:Kcnmb2'
ID65206
Institutional Source Beutler Lab
Gene Symbol Kcnmb2
Ensembl Gene ENSMUSG00000037610
Gene Namepotassium large conductance calcium-activated channel, subfamily M, beta member 2
Synonyms
MMRRC Submission 038543-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.259) question?
Stock #R0334 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location31902507-32200180 bp(+) (GRCm38)
Type of Mutationunclassified (3 bp from exon)
DNA Base Change (assembly) A to G at 32198359 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119310] [ENSMUST00000119970] [ENSMUST00000178668] [ENSMUST00000191869] [ENSMUST00000192429] [ENSMUST00000194796]
Predicted Effect silent
Transcript: ENSMUST00000119310
SMART Domains Protein: ENSMUSP00000112531
Gene: ENSMUSG00000037610

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.6272 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,617,129 probably benign Het
Aggf1 T C 13: 95,371,597 N87S probably benign Het
Ap2b1 T C 11: 83,367,874 probably benign Het
Arfgef3 A G 10: 18,592,281 Y1724H probably damaging Het
Arhgef10l G A 4: 140,583,926 Q243* probably null Het
Atp8a2 A T 14: 59,691,512 F1031Y probably damaging Het
Bmp8b A G 4: 123,114,760 probably null Het
Brinp2 G T 1: 158,295,585 T37K probably benign Het
Bsph1 T A 7: 13,450,939 L9* probably null Het
C6 T G 15: 4,755,367 N238K probably benign Het
Cbs T C 17: 31,619,156 D373G probably damaging Het
Clec4a3 T C 6: 122,969,370 F191S possibly damaging Het
Cpz A G 5: 35,503,681 V530A probably damaging Het
Ctsc G T 7: 88,278,342 S47I possibly damaging Het
Cyp7b1 T G 3: 18,103,796 Y53S probably damaging Het
Dach1 C T 14: 98,168,748 G188R probably damaging Het
Defb4 T C 8: 19,201,204 I29T probably benign Het
Disc1 A T 8: 125,261,097 probably null Het
Dnah2 A G 11: 69,436,836 M3429T probably damaging Het
Dnah7a A T 1: 53,433,054 I3518N possibly damaging Het
Dnah8 A T 17: 30,871,351 H4609L probably damaging Het
Evi5 C A 5: 107,820,535 C182F probably damaging Het
Fam149b G A 14: 20,363,424 R237H probably damaging Het
Fut8 T A 12: 77,393,762 D174E possibly damaging Het
Ghr T C 15: 3,341,098 probably benign Het
Gm10801 G C 2: 98,664,007 R143T possibly damaging Het
Gm12794 T C 4: 101,941,584 F251L probably benign Het
Gm8882 T A 6: 132,364,058 Q17L unknown Het
Gm9573 A G 17: 35,622,722 probably benign Het
Gpr176 T C 2: 118,279,708 S357G probably benign Het
Grwd1 A T 7: 45,827,177 probably null Het
H2-T24 A G 17: 36,014,880 V273A possibly damaging Het
Hdac4 A C 1: 91,956,038 probably benign Het
Herc3 A G 6: 58,918,817 T1017A probably damaging Het
Hsd11b1 T C 1: 193,242,168 probably benign Het
Igsf23 T C 7: 19,941,753 S143G probably benign Het
Kbtbd12 T A 6: 88,617,906 Y314F probably damaging Het
Kdm5b A G 1: 134,604,522 I479M probably damaging Het
Kidins220 A G 12: 25,008,069 T600A probably damaging Het
Mrgprb2 A C 7: 48,552,329 I216S probably damaging Het
Myo1g A G 11: 6,511,084 probably benign Het
Nrxn3 T C 12: 89,813,642 probably null Het
Olfr706 A G 7: 106,886,415 V134A probably benign Het
Olfr921 A T 9: 38,775,239 probably null Het
Olfr943 A G 9: 39,184,684 I169V probably benign Het
Pdia5 A T 16: 35,464,390 S66T possibly damaging Het
Plec T C 15: 76,178,006 E2604G probably damaging Het
Plekha6 G T 1: 133,282,180 A654S probably benign Het
Pnpla2 G A 7: 141,459,520 probably null Het
Prkdc A G 16: 15,736,799 D2128G probably benign Het
Rabggta A T 14: 55,720,811 L131Q probably damaging Het
Rbks A T 5: 31,624,519 Y312* probably null Het
Rnf139 A G 15: 58,899,473 Y449C probably damaging Het
Sbno1 A G 5: 124,386,868 V1058A possibly damaging Het
Sema3a A T 5: 13,557,301 N321I probably damaging Het
Slit3 T A 11: 35,579,101 V310E probably damaging Het
Slitrk5 T C 14: 111,680,824 S627P probably benign Het
Stat2 T A 10: 128,277,867 F172I probably damaging Het
Tchh C A 3: 93,445,616 R788S unknown Het
Tnks T A 8: 34,853,259 K753* probably null Het
Trank1 T A 9: 111,365,353 V815D probably benign Het
Trank1 T A 9: 111,392,940 I2915N probably damaging Het
Trpc6 T C 9: 8,610,343 S271P probably damaging Het
Trpm5 T C 7: 143,086,876 Q213R probably benign Het
Ulk3 C T 9: 57,594,227 probably benign Het
Usp31 T C 7: 121,658,962 D694G probably damaging Het
Wnt3a A G 11: 59,256,318 S181P probably damaging Het
Yipf3 T C 17: 46,248,312 F22S possibly damaging Het
Zbtb40 A T 4: 136,986,556 H1094Q probably damaging Het
Other mutations in Kcnmb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01909:Kcnmb2 APN 3 32198363 unclassified probably benign
IGL02153:Kcnmb2 APN 3 32178844 missense probably damaging 1.00
IGL02211:Kcnmb2 APN 3 32198334 missense probably damaging 1.00
IGL03019:Kcnmb2 APN 3 32198150 missense probably damaging 1.00
IGL03095:Kcnmb2 APN 3 32198127 makesense probably null
R1781:Kcnmb2 UTSW 3 32179003 critical splice donor site probably null
R2064:Kcnmb2 UTSW 3 32198288 missense probably damaging 0.99
R3858:Kcnmb2 UTSW 3 32198301 missense probably damaging 1.00
R4371:Kcnmb2 UTSW 3 32156102 unclassified probably null
R4766:Kcnmb2 UTSW 3 32181867 missense probably damaging 1.00
R5493:Kcnmb2 UTSW 3 32198142 missense probably damaging 0.97
R6063:Kcnmb2 UTSW 3 32178992 missense probably damaging 1.00
R6240:Kcnmb2 UTSW 3 32181896 missense probably damaging 1.00
R6928:Kcnmb2 UTSW 3 32199041 missense probably benign 0.05
R6939:Kcnmb2 UTSW 3 32198316 missense probably damaging 1.00
Predicted Primers
Posted On2013-08-08