Incidental Mutation 'R9457:Kcnmb2'
ID 714630
Institutional Source Beutler Lab
Gene Symbol Kcnmb2
Ensembl Gene ENSMUSG00000037610
Gene Name potassium large conductance calcium-activated channel, subfamily M, beta member 2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R9457 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 31902507-32200180 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32181869 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 89 (V89E)
Ref Sequence ENSEMBL: ENSMUSP00000112531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119310] [ENSMUST00000119970] [ENSMUST00000178668] [ENSMUST00000191869] [ENSMUST00000192429] [ENSMUST00000194796]
AlphaFold Q9CZM9
Predicted Effect probably benign
Transcript: ENSMUST00000119310
AA Change: V89E

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000112531
Gene: ENSMUSG00000037610
AA Change: V89E

DomainStartEndE-ValueType
Pfam:KcnmB2_inactiv 1 32 4.5e-22 PFAM
Pfam:CaKB 38 229 3e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119970
AA Change: V89E

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113234
Gene: ENSMUSG00000037610
AA Change: V89E

DomainStartEndE-ValueType
Pfam:KcnmB2_inactiv 1 32 3.7e-26 PFAM
Pfam:CaKB 33 230 9.6e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178668
AA Change: V89E

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000136596
Gene: ENSMUSG00000037610
AA Change: V89E

DomainStartEndE-ValueType
Pfam:KcnmB2_inactiv 1 32 3.7e-26 PFAM
Pfam:CaKB 33 230 9.6e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191869
AA Change: V89E

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000141955
Gene: ENSMUSG00000037610
AA Change: V89E

DomainStartEndE-ValueType
Pfam:KcnmB2_inactiv 1 32 1.9e-22 PFAM
Pfam:CaKB 33 162 9.3e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192429
AA Change: V89E

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000141656
Gene: ENSMUSG00000037610
AA Change: V89E

DomainStartEndE-ValueType
Pfam:KcnmB2_inactiv 1 32 3.7e-26 PFAM
Pfam:CaKB 33 230 9.6e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194796
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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 decreases the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants of this gene. Additional variants are discussed in the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous inactivation of this gene abolishes inactivation of BK currents in mouse adrenal chromaffin cells and results in slow-wave burst activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik A G 18: 12,179,246 H181R probably benign Het
4930404N11Rik C A 10: 81,365,777 V4L probably benign Het
4930430A15Rik A T 2: 111,170,286 M196K unknown Het
4932415D10Rik A G 10: 82,286,739 V3479A probably benign Het
A930009A15Rik T C 10: 115,578,331 L54P unknown Het
Ablim3 A G 18: 61,845,849 S204P probably benign Het
Acadl A G 1: 66,853,241 V141A probably benign Het
Ace3 A G 11: 105,994,861 D31G probably benign Het
Adam11 T G 11: 102,769,898 V85G probably benign Het
Adarb1 A T 10: 77,322,148 M155K possibly damaging Het
Arhgap10 G A 8: 77,384,786 T376M probably benign Het
Bod1l G T 5: 41,821,967 T668K probably damaging Het
Ccdc87 A G 19: 4,841,631 E717G probably damaging Het
Cdh17 T A 4: 11,771,329 I37N probably damaging Het
Cfap99 T G 5: 34,301,397 F45L probably benign Het
Chsy1 C A 7: 66,172,400 H794Q probably benign Het
Clec4a3 G A 6: 122,954,086 V45I probably benign Het
Clic3 G A 2: 25,457,718 V32I probably benign Het
Clip2 A T 5: 134,502,730 D740E probably benign Het
Col5a2 C T 1: 45,386,844 V1062I probably benign Het
Col5a2 A G 1: 45,392,813 probably null Het
Cyp2j11 C T 4: 96,307,359 V367I probably damaging Het
Ddr1 C T 17: 35,682,758 A821T possibly damaging Het
Dna2 G A 10: 62,950,793 E107K probably benign Het
Eif3d A G 15: 77,959,694 V484A probably benign Het
Fgfr4 A G 13: 55,161,127 T354A probably benign Het
Fkbp6 T C 5: 135,349,632 D54G probably benign Het
Gm4787 T A 12: 81,379,246 E46V probably damaging Het
Gm47995 A G 1: 151,198,475 T10A possibly damaging Het
Gm498 T C 7: 143,883,976 V137A possibly damaging Het
Gnb1l T A 16: 18,540,995 I50N probably damaging Het
Gphb5 A T 12: 75,415,749 V22D probably damaging Het
Gstt4 C T 10: 75,815,125 C221Y probably benign Het
Hmces T C 6: 87,933,274 V222A possibly damaging Het
Kat14 T A 2: 144,373,782 D62E probably benign Het
Kif23 T A 9: 61,944,225 N63I probably benign Het
Lamc2 T C 1: 153,139,854 M578V probably benign Het
Ltbp2 A T 12: 84,789,153 C1335S probably benign Het
Lyst A G 13: 13,687,745 E2622G possibly damaging Het
Mctp1 A T 13: 76,384,674 H47L probably benign Het
Micalcl A G 7: 112,411,458 K618R probably damaging Het
Mllt6 T C 11: 97,665,760 I92T probably benign Het
Morc2a A G 11: 3,676,184 I223V probably benign Het
Msh3 A T 13: 92,345,086 I306N probably benign Het
Myo3b T A 2: 70,095,209 S35T probably benign Het
Nfkbiz A T 16: 55,813,984 V700E probably damaging Het
Oit3 T A 10: 59,441,683 M1L unknown Het
Olfr1048 A T 2: 86,236,472 I114K probably damaging Het
Olfr1231 A T 2: 89,302,731 I287N probably damaging Het
Olfr606 T A 7: 103,451,411 F25I probably benign Het
Peg3 T G 7: 6,707,999 D1408A probably damaging Het
Plaa A C 4: 94,586,883 S201R possibly damaging Het
Psmd5 A G 2: 34,854,326 S395P probably benign Het
Ralgapa2 T C 2: 146,334,554 I1701V probably damaging Het
Rnf32 G A 5: 29,206,186 A157T probably damaging Het
Rrad T A 8: 104,629,727 probably null Het
Samm50 T A 15: 84,207,841 L339Q probably damaging Het
Scin T C 12: 40,104,958 E212G possibly damaging Het
Scrib T C 15: 76,067,299 D146G probably damaging Het
Slc19a1 G A 10: 77,049,771 D502N probably benign Het
Slc4a4 T C 5: 89,214,573 S839P probably damaging Het
Slc4a8 A G 15: 100,806,260 D764G probably damaging Het
Slc6a19 G A 13: 73,681,765 A590V probably damaging Het
Slfn8 G T 11: 83,017,706 H4N probably benign Het
Smad9 T A 3: 54,789,335 F274I possibly damaging Het
Snx4 A G 16: 33,286,010 E271G probably benign Het
Thap4 G A 1: 93,750,306 R253* probably null Het
Tmem65 T A 15: 58,790,179 I144F Het
Tnrc6a G A 7: 123,179,735 R1223Q probably benign Het
Traf7 CA CAA 17: 24,527,763 probably benign Het
Trpm2 T C 10: 77,911,392 Y1424C possibly damaging Het
Trrap T A 5: 144,826,668 Y2457N probably damaging Het
Vmn1r7 A G 6: 57,024,523 S251P probably damaging Het
Vmn2r89 A T 14: 51,456,012 E273V probably damaging Het
Vps52 A G 17: 33,962,182 D466G probably damaging Het
Xirp2 T C 2: 67,515,632 V2739A probably benign Het
Zc3h4 C T 7: 16,434,750 S1003F unknown Het
Zyg11a A T 4: 108,217,905 H6Q probably damaging Het
Other mutations in Kcnmb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01909:Kcnmb2 APN 3 32198363 unclassified probably benign
IGL02153:Kcnmb2 APN 3 32178844 missense probably damaging 1.00
IGL02211:Kcnmb2 APN 3 32198334 missense probably damaging 1.00
IGL03019:Kcnmb2 APN 3 32198150 missense probably damaging 1.00
IGL03095:Kcnmb2 APN 3 32198127 makesense probably null
R0334:Kcnmb2 UTSW 3 32198359 splice site probably null
R1781:Kcnmb2 UTSW 3 32179003 critical splice donor site probably null
R2064:Kcnmb2 UTSW 3 32198288 missense probably damaging 0.99
R3858:Kcnmb2 UTSW 3 32198301 missense probably damaging 1.00
R4371:Kcnmb2 UTSW 3 32156102 splice site probably null
R4766:Kcnmb2 UTSW 3 32181867 missense probably damaging 1.00
R5493:Kcnmb2 UTSW 3 32198142 missense probably damaging 0.97
R6063:Kcnmb2 UTSW 3 32178992 missense probably damaging 1.00
R6240:Kcnmb2 UTSW 3 32181896 missense probably damaging 1.00
R6928:Kcnmb2 UTSW 3 32199041 missense probably benign 0.05
R6939:Kcnmb2 UTSW 3 32198316 missense probably damaging 1.00
R7683:Kcnmb2 UTSW 3 32198316 missense probably damaging 1.00
R8808:Kcnmb2 UTSW 3 32198117 missense probably benign
R9194:Kcnmb2 UTSW 3 32182025 missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- ATGTCACCAAGAAGGCTCTC -3'
(R):5'- AGCCAAACTCCTACCTTTTGATTG -3'

Sequencing Primer
(F):5'- CATGCCGAAAGCTTGTATGC -3'
(R):5'- GATTGATCTTCATGGTCTCTTCCGTG -3'
Posted On 2022-06-15