Incidental Mutation 'R3153:Kcnmb1'
ID 264482
Institutional Source Beutler Lab
Gene Symbol Kcnmb1
Ensembl Gene ENSMUSG00000020155
Gene Name potassium large conductance calcium-activated channel, subfamily M, beta member 1
Synonyms BKbeta1, BK channel beta subunit
MMRRC Submission 040604-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3153 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 33913013-33923641 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33916339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 95 (D95V)
Ref Sequence ENSEMBL: ENSMUSP00000020362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020362]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020362
AA Change: D95V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020362
Gene: ENSMUSG00000020155
AA Change: D95V

DomainStartEndE-ValueType
Pfam:CaKB 7 190 5.4e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154760
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
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 product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased blood pressure, and impaired motor coordination and cerebellar function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A C 2: 152,282,744 (GRCm39) N200H probably damaging Het
Abca17 T A 17: 24,547,720 (GRCm39) D218V probably damaging Het
Abhd12 A G 2: 150,676,275 (GRCm39) F361L probably benign Het
Abr A T 11: 76,377,295 (GRCm39) I59N probably damaging Het
Agbl1 A G 7: 76,369,944 (GRCm39) E681G probably damaging Het
B3gnt4 G T 5: 123,648,716 (GRCm39) R27L probably benign Het
Cct8l1 A C 5: 25,722,137 (GRCm39) E284A probably damaging Het
Chd7 T A 4: 8,855,174 (GRCm39) N2134K probably benign Het
Chrna3 C T 9: 54,923,334 (GRCm39) C158Y probably damaging Het
Cndp2 C A 18: 84,686,722 (GRCm39) M433I probably benign Het
Cnnm3 T A 1: 36,560,303 (GRCm39) S608T probably damaging Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Col20a1 C T 2: 180,650,386 (GRCm39) P1074L probably damaging Het
Coq6 G A 12: 84,418,309 (GRCm39) V298M probably damaging Het
Cpt1a A G 19: 3,406,430 (GRCm39) Y132C probably damaging Het
Dcdc2a A C 13: 25,286,340 (GRCm39) I125L probably benign Het
Eps8l1 A T 7: 4,474,798 (GRCm39) I321F probably damaging Het
Fancd2 A G 6: 113,570,230 (GRCm39) S1394G possibly damaging Het
Fcrl5 T C 3: 87,350,987 (GRCm39) F166L probably benign Het
Gatc T C 5: 115,473,546 (GRCm39) E131G probably benign Het
Gpld1 T C 13: 25,127,603 (GRCm39) S2P unknown Het
Gprc5b G A 7: 118,575,770 (GRCm39) P385L probably damaging Het
Gsc2 G A 16: 17,732,364 (GRCm39) R137W probably damaging Het
Hsd3b1 T C 3: 98,759,980 (GRCm39) D337G probably damaging Het
Ireb2 T C 9: 54,793,230 (GRCm39) probably null Het
Kank1 T A 19: 25,388,052 (GRCm39) V575E possibly damaging Het
L3mbtl4 T A 17: 68,764,243 (GRCm39) Y125* probably null Het
Lce1h C T 3: 92,670,982 (GRCm39) G57R unknown Het
Lgalsl A G 11: 20,776,487 (GRCm39) F135S probably damaging Het
Lrba A G 3: 86,192,526 (GRCm39) M147V probably damaging Het
Mdm2 T C 10: 117,545,618 (GRCm39) E23G possibly damaging Het
Mthfd1 C A 12: 76,358,737 (GRCm39) Q67K probably benign Het
Mtus2 T C 5: 148,019,870 (GRCm39) L755P probably damaging Het
Or5m13b T C 2: 85,754,074 (GRCm39) V154A probably benign Het
Orc3 A G 4: 34,575,124 (GRCm39) F587L probably damaging Het
Pcdhb7 C T 18: 37,476,126 (GRCm39) P421S probably damaging Het
Pgk2 T A 17: 40,519,134 (GRCm39) D98V probably damaging Het
Pkd1l1 A C 11: 8,817,207 (GRCm39) S1364A probably benign Het
Rin3 A C 12: 102,334,800 (GRCm39) E157A unknown Het
Rnf126 A T 10: 79,597,465 (GRCm39) I149N probably damaging Het
Rph3a T C 5: 121,111,440 (GRCm39) T47A probably damaging Het
Sap18 T C 14: 58,039,402 (GRCm39) M68T probably benign Het
Sfrp2 A G 3: 83,680,577 (GRCm39) T246A probably benign Het
Slc18a3 A G 14: 32,185,228 (GRCm39) V385A probably benign Het
Slitrk3 C T 3: 72,956,315 (GRCm39) W819* probably null Het
Smap1 A T 1: 23,892,630 (GRCm39) D111E probably damaging Het
Spesp1 G A 9: 62,189,376 (GRCm39) probably benign Het
Styk1 A T 6: 131,286,975 (GRCm39) Y84* probably null Het
Sv2a T A 3: 96,092,574 (GRCm39) D91E possibly damaging Het
Tbc1d5 A G 17: 51,275,264 (GRCm39) I77T probably damaging Het
Trim10 T A 17: 37,182,580 (GRCm39) C149S probably damaging Het
Zbtb38 T C 9: 96,570,302 (GRCm39) K261E probably benign Het
Zfp202 T C 9: 40,119,734 (GRCm39) L179P probably benign Het
Zkscan5 T A 5: 145,149,437 (GRCm39) S251R probably benign Het
Other mutations in Kcnmb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02321:Kcnmb1 APN 11 33,920,091 (GRCm39) splice site probably benign
G1citation:Kcnmb1 UTSW 11 33,914,686 (GRCm39) start gained probably benign
R0737:Kcnmb1 UTSW 11 33,914,701 (GRCm39) start codon destroyed probably benign 0.18
R6350:Kcnmb1 UTSW 11 33,914,711 (GRCm39) missense probably damaging 0.99
R6822:Kcnmb1 UTSW 11 33,914,686 (GRCm39) start gained probably benign
R6995:Kcnmb1 UTSW 11 33,920,131 (GRCm39) missense probably benign 0.02
R7872:Kcnmb1 UTSW 11 33,916,275 (GRCm39) missense probably damaging 1.00
R8903:Kcnmb1 UTSW 11 33,914,825 (GRCm39) missense probably damaging 1.00
R9098:Kcnmb1 UTSW 11 33,914,806 (GRCm39) missense probably damaging 0.99
R9151:Kcnmb1 UTSW 11 33,920,263 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- GTGTCATCCTTGTCTCTAAGGG -3'
(R):5'- TCCAGGTCAGTTCAAACATGG -3'

Sequencing Primer
(F):5'- CATCCTTGTCTCTAAGGGATGTTTG -3'
(R):5'- GTCAGTTCAAACATGGAAGATCC -3'
Posted On 2015-02-05