Incidental Mutation 'R8852:Kcnmb3'
ID 675044
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 068674-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R8852 (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 32526624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 189 (V189A)
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: V189A

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130177
Gene: ENSMUSG00000091091
AA Change: V189A

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (53/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T G 12: 71,231,197 (GRCm39) V985G possibly damaging Het
Acr T G 15: 89,458,057 (GRCm39) M246R probably damaging Het
Adgrf5 G T 17: 43,763,989 (GRCm39) V1304L possibly damaging Het
Ago4 A T 4: 126,387,043 (GRCm39) D853E probably benign Het
Arvcf C A 16: 18,222,203 (GRCm39) D790E probably benign Het
Atp8a2 A C 14: 60,162,545 (GRCm39) D725E probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Camkk2 T C 5: 122,891,820 (GRCm39) Y234C probably damaging Het
Ccdc106 A G 7: 5,062,570 (GRCm39) D192G probably benign Het
Ccm2l T C 2: 152,916,788 (GRCm39) Y340H probably damaging Het
Chd1l A G 3: 97,477,685 (GRCm39) F690S probably benign Het
Chuk A G 19: 44,076,407 (GRCm39) S435P possibly damaging Het
Cisd3 T A 11: 97,576,703 (GRCm39) S10T probably benign Het
Cnppd1 A G 1: 75,113,063 (GRCm39) S402P probably damaging Het
Cped1 A G 6: 22,215,620 (GRCm39) D718G probably damaging Het
Crtc1 A G 8: 70,840,805 (GRCm39) S474P probably damaging Het
Dcpp3 G T 17: 24,138,123 (GRCm39) E94* probably null Het
Dhx38 A T 8: 110,289,361 (GRCm39) L13* probably null Het
Dmbt1 T C 7: 130,642,853 (GRCm39) Y120H unknown Het
Fntb T A 12: 76,934,826 (GRCm39) V201E possibly damaging Het
Gga3 T C 11: 115,481,244 (GRCm39) D242G probably benign Het
Gsx2 T C 5: 75,236,996 (GRCm39) M192T possibly damaging Het
Hif3a A T 7: 16,774,912 (GRCm39) M562K probably benign Het
Irf5 G A 6: 29,535,997 (GRCm39) R337H probably damaging Het
Letmd1 A G 15: 100,373,247 (GRCm39) T241A probably benign Het
Lrrc14b T A 13: 74,509,408 (GRCm39) D333V probably damaging Het
Meaf6 T A 4: 124,979,990 (GRCm39) L48Q probably damaging Het
Miip T A 4: 147,950,839 (GRCm39) probably benign Het
Muc4 A G 16: 32,569,461 (GRCm39) T236A possibly damaging Het
Myh4 T A 11: 67,132,335 (GRCm39) I155N probably damaging Het
Obscn C T 11: 58,898,440 (GRCm39) R6607Q unknown Het
Or2ak7 C T 11: 58,574,966 (GRCm39) T89I probably benign Het
Or5v1 G A 17: 37,810,321 (GRCm39) V260M probably benign Het
Otof T C 5: 30,529,044 (GRCm39) N1788S possibly damaging Het
Psapl1 T C 5: 36,362,314 (GRCm39) L302S probably damaging Het
Rdh8 A C 9: 20,734,021 (GRCm39) N69T probably benign Het
Ryr3 T C 2: 112,624,844 (GRCm39) E2212G probably damaging Het
Septin7 A T 9: 25,163,980 (GRCm39) N16Y possibly damaging Het
Slc22a17 A T 14: 55,146,436 (GRCm39) L60Q probably damaging Het
Snrnp200 T C 2: 127,060,349 (GRCm39) I531T probably damaging Het
Ssh3 A T 19: 4,317,992 (GRCm39) V41E probably damaging Het
Tars1 G T 15: 11,393,348 (GRCm39) N115K probably benign Het
Tomm6 G C 17: 47,998,850 (GRCm39) F34L possibly damaging Het
Txnrd2 G A 16: 18,259,601 (GRCm39) V173M possibly damaging Het
Uba6 T A 5: 86,289,454 (GRCm39) I450F possibly damaging Het
Vmn2r95 G T 17: 18,664,113 (GRCm39) S516I possibly damaging Het
Vps4b A G 1: 106,710,414 (GRCm39) F156L possibly damaging Het
Zfp354c T A 11: 50,706,019 (GRCm39) H352L probably damaging Het
Zfp521 T C 18: 14,072,150 (GRCm39) D30G probably benign Het
Zic2 A T 14: 122,713,530 (GRCm39) H148L possibly 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
R8276:Kcnmb3 UTSW 3 32,536,572 (GRCm39) missense probably damaging 1.00
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'- GAATGTGTTCTGCCTCCTGC -3'
(R):5'- CGAGTGAGCGTGTCTGTATC -3'

Sequencing Primer
(F):5'- GAATGTGTTCTGCCTCCTGCTTAAG -3'
(R):5'- CAGCTTTAGCCTGGAGCCTTAATG -3'
Posted On 2021-07-15