Incidental Mutation 'R8276:Kcnmb3'
ID 637968
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 067699-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R8276 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 32525737-32546380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32536572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 52 (L52P)
Ref Sequence ENSEMBL: ENSMUSP00000130177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164954]
AlphaFold E9Q7U0
Predicted Effect probably damaging
Transcript: ENSMUST00000164954
AA Change: L52P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130177
Gene: ENSMUSG00000091091
AA Change: L52P

DomainStartEndE-ValueType
low complexity region 13 21 N/A INTRINSIC
Pfam:CaKB 41 232 2.6e-77 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (44/45)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,385,885 (GRCm39) R27W probably damaging Het
Acbd5 A G 2: 22,959,563 (GRCm39) D39G probably benign Het
Amdhd2 C G 17: 24,382,574 (GRCm39) R22P probably damaging Het
Ankmy1 T C 1: 92,814,531 (GRCm39) I325M probably benign Het
Cyld A G 8: 89,461,556 (GRCm39) I664M probably benign Het
Dnajc10 T C 2: 80,179,614 (GRCm39) M716T probably benign Het
Dock10 T A 1: 80,505,998 (GRCm39) T1743S probably benign Het
Dop1a T C 9: 86,399,092 (GRCm39) S947P probably benign Het
Ep300 C G 15: 81,534,229 (GRCm39) N2095K possibly damaging Het
Evi2a T A 11: 79,418,316 (GRCm39) N98I probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Far2 G T 6: 148,075,399 (GRCm39) V420L probably benign Het
Gng5 A G 3: 146,206,258 (GRCm39) probably benign Het
Heatr5b G A 17: 79,098,968 (GRCm39) R1311* probably null Het
Hhipl2 A T 1: 183,217,328 (GRCm39) K478M possibly damaging Het
Hs3st1 A T 5: 39,772,146 (GRCm39) Y166N probably damaging Het
Jcad T A 18: 4,674,318 (GRCm39) S693R probably damaging Het
Mib1 T C 18: 10,751,880 (GRCm39) I254T possibly damaging Het
Myo18b T C 5: 112,943,273 (GRCm39) K1644R possibly damaging Het
Nherf2 G T 17: 24,861,234 (GRCm39) Y175* probably null Het
Nlrp2 G A 7: 5,320,494 (GRCm39) T881M probably benign Het
Or11h23 T A 14: 50,948,287 (GRCm39) S167T probably benign Het
Or52h9 A T 7: 104,202,522 (GRCm39) Y132F probably damaging Het
Pkd1l3 A C 8: 110,397,353 (GRCm39) *2152C probably null Het
Polr2a G A 11: 69,638,882 (GRCm39) R51C probably damaging Het
Ptpru C T 4: 131,506,484 (GRCm39) G1026D probably damaging Het
Rbm46 A G 3: 82,771,895 (GRCm39) V240A probably damaging Het
Rrm1 G A 7: 102,110,059 (GRCm39) probably null Het
Ryr3 T C 2: 112,470,962 (GRCm39) D4637G probably damaging Het
Selenos G A 7: 65,729,552 (GRCm39) probably benign Het
Serpina1e G T 12: 103,913,428 (GRCm39) T364K probably damaging Het
Shroom3 A T 5: 93,088,339 (GRCm39) Q363L probably damaging Het
Slc9b1 A C 3: 135,077,658 (GRCm39) E139D possibly damaging Het
Tjp1 A T 7: 64,993,544 (GRCm39) probably benign Het
Tmcc3 A T 10: 94,418,170 (GRCm39) T344S probably damaging Het
Tnrc6b T A 15: 80,764,918 (GRCm39) S807T probably benign Het
Trav7-6 A T 14: 53,954,695 (GRCm39) H95L probably benign Het
Trmu T A 15: 85,766,932 (GRCm39) V47D possibly damaging Het
Uba6 C A 5: 86,290,509 (GRCm39) probably benign Het
Unc79 A G 12: 102,968,122 (GRCm39) D116G possibly damaging Het
Vmn2r93 G A 17: 18,525,649 (GRCm39) probably null Het
Zfp541 A T 7: 15,813,009 (GRCm39) H554L possibly damaging Het
Zfp618 A G 4: 63,051,193 (GRCm39) H658R probably damaging Het
Zmym1 A T 4: 126,948,051 (GRCm39) Y107N 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
R6659:Kcnmb3 UTSW 3 32,526,594 (GRCm39) missense possibly damaging 0.95
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'- GGAGCAGAGGACTATTTCACAC -3'
(R):5'- TCTCAGTGAACCAGACTCAGG -3'

Sequencing Primer
(F):5'- TGTCTCCAGCACGAACAGG -3'
(R):5'- GACTCAGGTTTGCCATGAGCTAAAC -3'
Posted On 2020-07-28