Incidental Mutation 'R5593:Kcnmb3'
ID 437613
Institutional Source Beutler Lab
Gene Symbol Kcnmb3
Ensembl Gene ENSMUSG00000091091
Gene Name potassium large conductance calcium-activated channel, subfamily M, beta member 3
Synonyms Gm5707
MMRRC Submission 043145-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R5593 (G1)
Quality Score 187
Status Validated
Chromosome 3
Chromosomal Location 32525737-32546380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32546096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 8 (V8A)
Ref Sequence ENSEMBL: ENSMUSP00000130177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164954]
AlphaFold E9Q7U0
Predicted Effect possibly damaging
Transcript: ENSMUST00000164954
AA Change: V8A

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130177
Gene: ENSMUSG00000091091
AA Change: V8A

DomainStartEndE-ValueType
low complexity region 13 21 N/A INTRINSIC
Pfam:CaKB 41 232 2.6e-77 PFAM
Meta Mutation Damage Score 0.1143 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (71/71)
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 may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik C T 11: 3,888,027 (GRCm39) V120I unknown Het
Anpep T G 7: 79,491,794 (GRCm39) K69T probably benign Het
Appbp2 A T 11: 85,085,409 (GRCm39) I499K possibly damaging Het
Copb2 A G 9: 98,469,091 (GRCm39) probably null Het
Cpa5 T C 6: 30,630,848 (GRCm39) I370T probably benign Het
Cpn2 T C 16: 30,078,898 (GRCm39) T268A probably benign Het
Ctbp2 C A 7: 132,600,598 (GRCm39) R99I possibly damaging Het
Cul1 G A 6: 47,462,020 (GRCm39) W196* probably null Het
Cul1 T C 6: 47,491,925 (GRCm39) F402L probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Dyrk1a C A 16: 94,460,442 (GRCm39) Q33K possibly damaging Het
Elapor2 T A 5: 9,316,350 (GRCm39) L27Q probably benign Het
Epg5 T A 18: 78,000,689 (GRCm39) S542T probably damaging Het
Eps8l3 A T 3: 107,798,504 (GRCm39) probably benign Het
Evc2 A G 5: 37,544,321 (GRCm39) H690R probably damaging Het
Fam227a G A 15: 79,524,259 (GRCm39) probably benign Het
Gadl1 G T 9: 115,835,718 (GRCm39) G382V probably damaging Het
Gbf1 A G 19: 46,260,963 (GRCm39) Q1176R possibly damaging Het
Gdf9 A T 11: 53,324,558 (GRCm39) H109L probably damaging Het
Gsdmd T A 15: 75,738,856 (GRCm39) V411D probably damaging Het
Hdc T C 2: 126,460,504 (GRCm39) probably benign Het
Ifrd2 A G 9: 107,467,374 (GRCm39) D82G probably damaging Het
Itpkb T C 1: 180,161,661 (GRCm39) S596P probably damaging Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Mcm9 G A 10: 53,414,393 (GRCm39) T229I probably damaging Het
Medag T A 5: 149,350,415 (GRCm39) F21L probably benign Het
Mefv A T 16: 3,533,315 (GRCm39) C319S probably benign Het
Mettl23 T A 11: 116,734,593 (GRCm39) V54D probably damaging Het
Mul1 A G 4: 138,166,543 (GRCm39) D199G probably damaging Het
Ncor1 A T 11: 62,260,130 (GRCm39) I266N probably damaging Het
Nek10 A T 14: 14,980,544 (GRCm38) K967* probably null Het
Nrcam A G 12: 44,606,483 (GRCm39) T410A probably damaging Het
Or1p1 A G 11: 74,179,618 (GRCm39) I49V possibly damaging Het
Or2b11 T C 11: 59,461,874 (GRCm39) R231G possibly damaging Het
Or52d13 C T 7: 103,109,592 (GRCm39) silent Het
Or52e4 T C 7: 104,705,711 (GRCm39) I86T probably damaging Het
Pate2 A T 9: 35,581,778 (GRCm39) D24V possibly damaging Het
Plcb3 T C 19: 6,932,117 (GRCm39) I1124V possibly damaging Het
Ptprc A T 1: 138,045,458 (GRCm39) probably benign Het
Rab6a T C 7: 100,257,378 (GRCm39) probably benign Het
Rnf208 G T 2: 25,133,345 (GRCm39) W13L possibly damaging Het
Rps6kl1 G T 12: 85,193,675 (GRCm39) Q139K possibly damaging Het
Sdk1 T A 5: 141,941,879 (GRCm39) I509N probably damaging Het
Sephs1 A G 2: 4,898,098 (GRCm39) I170V probably benign Het
Slc17a8 C T 10: 89,442,702 (GRCm39) D44N probably benign Het
Slc23a1 T A 18: 35,755,349 (GRCm39) I489F probably damaging Het
Slc25a19 A T 11: 115,507,418 (GRCm39) Y235N probably damaging Het
Slc47a2 A G 11: 61,233,486 (GRCm39) V40A probably benign Het
Slurp2 C T 15: 74,614,917 (GRCm39) V75I probably benign Het
Smc1b A C 15: 85,005,842 (GRCm39) M354R probably benign Het
Spice1 C A 16: 44,191,115 (GRCm39) A323E possibly damaging Het
Sptbn2 T A 19: 4,798,975 (GRCm39) V2015E probably damaging Het
Sptlc2 A C 12: 87,415,857 (GRCm39) F57V probably benign Het
Srsf1 A G 11: 87,938,705 (GRCm39) N14S possibly damaging Het
Ssh2 T A 11: 77,312,192 (GRCm39) D228E probably damaging Het
Synj2 A G 17: 6,088,390 (GRCm39) *1480W probably null Het
Syt14 A T 1: 192,613,231 (GRCm39) M523K probably damaging Het
Tff3 A T 17: 31,348,516 (GRCm39) V12E probably benign Het
Tgm2 C A 2: 157,969,262 (GRCm39) C371F probably damaging Het
Tmem260 A C 14: 48,711,501 (GRCm39) I197L probably benign Het
Unc5a A G 13: 55,152,747 (GRCm39) D887G possibly damaging Het
Vstm4 G T 14: 32,641,247 (GRCm39) A277S probably benign Het
Wdtc1 A T 4: 133,021,702 (GRCm39) probably null Het
Zan A G 5: 137,466,600 (GRCm39) F419S possibly damaging Het
Zfp317 G A 9: 19,558,584 (GRCm39) R266Q probably damaging Het
Zfp931 T A 2: 177,709,595 (GRCm39) T264S possibly damaging Het
Zpld2 T C 4: 133,920,350 (GRCm39) K605R probably damaging Het
Other mutations in Kcnmb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1965:Kcnmb3 UTSW 3 32,526,492 (GRCm39) missense probably damaging 1.00
R2036:Kcnmb3 UTSW 3 32,526,531 (GRCm39) missense probably damaging 1.00
R4917:Kcnmb3 UTSW 3 32,526,653 (GRCm39) nonsense probably null
R6153:Kcnmb3 UTSW 3 32,527,976 (GRCm39) missense probably damaging 1.00
R6659:Kcnmb3 UTSW 3 32,526,594 (GRCm39) missense possibly damaging 0.95
R8276:Kcnmb3 UTSW 3 32,536,572 (GRCm39) missense probably damaging 1.00
R8852:Kcnmb3 UTSW 3 32,526,624 (GRCm39) missense possibly damaging 0.77
R9312:Kcnmb3 UTSW 3 32,536,575 (GRCm39) missense probably benign 0.31
R9726:Kcnmb3 UTSW 3 32,536,512 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- CACCTGTGTCACCTGTGTAC -3'
(R):5'- CTCTCTAGGAAACTTCTAGAGGAC -3'

Sequencing Primer
(F):5'- TCACCTGTGTACCCAGGTAGAGAG -3'
(R):5'- GGAAACTTCTAGAGGACCCCGC -3'
Posted On 2016-10-26