Incidental Mutation 'R6659:Kcnmb3'
ID 526750
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 044779-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6659 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 32525737-32546380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32526594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 199 (V199A)
Ref Sequence ENSEMBL: ENSMUSP00000130177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029201] [ENSMUST00000164954]
AlphaFold E9Q7U0
Predicted Effect probably benign
Transcript: ENSMUST00000029201
SMART Domains Protein: ENSMUSP00000029201
Gene: ENSMUSG00000027665

DomainStartEndE-ValueType
PI3K_p85B 31 108 3.03e-46 SMART
PI3K_rbd 173 292 5e-47 SMART
PI3K_C2 322 425 2.39e-35 SMART
C2 333 441 3.95e-1 SMART
PI3Ka 518 704 8.35e-99 SMART
Blast:PI3Kc 733 766 1e-11 BLAST
PI3Kc 798 1065 8.82e-130 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000164954
AA Change: V199A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130177
Gene: ENSMUSG00000091091
AA Change: V199A

DomainStartEndE-ValueType
low complexity region 13 21 N/A INTRINSIC
Pfam:CaKB 41 232 2.6e-77 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,950,133 (GRCm39) D212G probably damaging Het
Add1 C T 5: 34,770,639 (GRCm39) A250V possibly damaging Het
Atxn2 A G 5: 121,916,027 (GRCm39) N411S probably benign Het
AW551984 T C 9: 39,500,395 (GRCm39) T788A probably benign Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Ddx46 A G 13: 55,817,537 (GRCm39) T721A probably damaging Het
Eif2b1 G A 5: 124,717,171 (GRCm39) probably benign Het
Eif4g3 A G 4: 137,905,243 (GRCm39) K1241E probably damaging Het
Engase T A 11: 118,372,142 (GRCm39) Y145N probably benign Het
Fbrs C A 7: 127,087,091 (GRCm39) A674D probably damaging Het
Gm4884 G A 7: 40,694,046 (GRCm39) G672R probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Iars2 T A 1: 185,020,273 (GRCm39) I954F possibly damaging Het
Itgad A T 7: 127,785,120 (GRCm39) I310F probably damaging Het
Kctd12 G T 14: 103,219,622 (GRCm39) D85E probably damaging Het
Lama1 G A 17: 68,125,630 (GRCm39) R2929H probably damaging Het
Lgmn T A 12: 102,368,951 (GRCm39) Y176F probably benign Het
Lipo3 A G 19: 33,533,828 (GRCm39) F335L possibly damaging Het
Map2k3 T C 11: 60,833,150 (GRCm39) S46P probably benign Het
Megf8 C A 7: 25,058,159 (GRCm39) H2144Q probably benign Het
Neb A T 2: 52,124,365 (GRCm39) W3694R probably damaging Het
Nek10 A G 14: 14,861,684 (GRCm38) E580G probably benign Het
Obscn G A 11: 58,929,835 (GRCm39) P5930S probably damaging Het
Palld A G 8: 61,986,477 (GRCm39) F621L probably benign Het
Pkn2 A T 3: 142,509,348 (GRCm39) I732N probably damaging Het
Plpbp T A 8: 27,542,307 (GRCm39) I214N possibly damaging Het
Ppp1r37 A G 7: 19,266,048 (GRCm39) S573P probably benign Het
Prg4 C A 1: 150,336,432 (GRCm39) C97F probably damaging Het
Prmt2 T C 10: 76,053,208 (GRCm39) D269G possibly damaging Het
Ptbp3 T A 4: 59,517,640 (GRCm39) L80F probably damaging Het
Reep1 T A 6: 71,750,179 (GRCm39) F64I probably damaging Het
Srcap C A 7: 127,141,563 (GRCm39) P1720Q probably damaging Het
Ssr1 A T 13: 38,171,666 (GRCm39) F124I probably damaging Het
Tbx18 A G 9: 87,589,864 (GRCm39) L358P probably damaging Het
Tfpt T C 7: 3,623,835 (GRCm39) K71E probably benign Het
Tmem132a C A 19: 10,837,685 (GRCm39) G542C probably damaging Het
Tmem135 C A 7: 88,956,371 (GRCm39) L81F probably benign Het
Tmem135 A T 7: 88,956,372 (GRCm39) L81* probably null Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Washc5 A G 15: 59,212,739 (GRCm39) probably null Het
Zfp24 T C 18: 24,150,391 (GRCm39) E173G possibly damaging Het
Zgrf1 T C 3: 127,410,155 (GRCm39) I1814T 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
R5593:Kcnmb3 UTSW 3 32,546,096 (GRCm39) missense possibly damaging 0.92
R6153:Kcnmb3 UTSW 3 32,527,976 (GRCm39) missense probably damaging 1.00
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'- GACTCTGCCACACTGTACAG -3'
(R):5'- TTAGCCTGGAGCCTTAATGCTG -3'

Sequencing Primer
(F):5'- TGTACAGTGTAGACCTGCACC -3'
(R):5'- TGCTGGCCACTGTTAACAGAG -3'
Posted On 2018-07-23