Incidental Mutation 'IGL02153:Kcnmb2'
ID282132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnmb2
Ensembl Gene ENSMUSG00000037610
Gene Namepotassium large conductance calcium-activated channel, subfamily M, beta member 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02153
Quality Score
Status
Chromosome3
Chromosomal Location31902507-32200180 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32178844 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 24 (K24E)
Ref Sequence ENSEMBL: ENSMUSP00000141656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119310] [ENSMUST00000119970] [ENSMUST00000178668] [ENSMUST00000191869] [ENSMUST00000192429] [ENSMUST00000194796]
Predicted Effect probably damaging
Transcript: ENSMUST00000119310
AA Change: K24E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112531
Gene: ENSMUSG00000037610
AA Change: K24E

DomainStartEndE-ValueType
Pfam:KcnmB2_inactiv 1 32 4.5e-22 PFAM
Pfam:CaKB 38 229 3e-87 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119970
AA Change: K24E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113234
Gene: ENSMUSG00000037610
AA Change: K24E

DomainStartEndE-ValueType
Pfam:KcnmB2_inactiv 1 32 3.7e-26 PFAM
Pfam:CaKB 33 230 9.6e-96 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178668
AA Change: K24E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136596
Gene: ENSMUSG00000037610
AA Change: K24E

DomainStartEndE-ValueType
Pfam:KcnmB2_inactiv 1 32 3.7e-26 PFAM
Pfam:CaKB 33 230 9.6e-96 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000191869
AA Change: K24E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141955
Gene: ENSMUSG00000037610
AA Change: K24E

DomainStartEndE-ValueType
Pfam:KcnmB2_inactiv 1 32 1.9e-22 PFAM
Pfam:CaKB 33 162 9.3e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000192429
AA Change: K24E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141656
Gene: ENSMUSG00000037610
AA Change: K24E

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,441,241 I275T probably benign Het
BC005561 A G 5: 104,521,083 E1157G probably benign Het
Chd9 A T 8: 90,956,494 K521* probably null Het
Csn3 A T 5: 87,930,097 N154I possibly damaging Het
Dock2 A G 11: 34,230,670 S1716P probably benign Het
Dock7 A T 4: 98,958,067 S18T probably benign Het
Esrra G A 19: 6,913,822 T190I probably benign Het
F13b T C 1: 139,516,377 I483T probably damaging Het
Foxb1 T A 9: 69,759,703 M182L probably benign Het
Fsip2 T C 2: 82,978,721 F1795L probably benign Het
Gkn2 G A 6: 87,373,408 probably null Het
Gm8439 G A 4: 120,609,590 A93T unknown Het
Ift22 T C 5: 136,911,696 S72P probably benign Het
Kcnq3 C A 15: 66,025,191 V287L probably damaging Het
Lrriq1 T A 10: 103,170,479 M1262L probably benign Het
Mb21d2 A G 16: 28,929,488 I59T probably benign Het
Mogat2 A T 7: 99,223,554 M141K possibly damaging Het
Mtdh C T 15: 34,131,250 L409F possibly damaging Het
Muc5ac C T 7: 141,818,800 Q2724* probably null Het
Myo15 T G 11: 60,498,397 L2040R probably damaging Het
Nodal C T 10: 61,424,545 T325I probably damaging Het
Pappa A T 4: 65,297,437 T1194S probably damaging Het
Pcdhb13 A C 18: 37,443,685 D372A probably damaging Het
Phf14 T A 6: 11,934,016 N292K probably damaging Het
Pigr T A 1: 130,849,056 probably null Het
Plcb1 T C 2: 135,387,853 I1131T probably benign Het
Plch1 T A 3: 63,781,351 D132V probably damaging Het
Plxnb2 C A 15: 89,165,813 E502* probably null Het
Prox2 T C 12: 85,087,929 N526S probably damaging Het
Rdm1 T A 11: 101,628,454 probably null Het
Rxfp1 C T 3: 79,660,120 E308K probably benign Het
Sgca T C 11: 94,963,284 T120A probably damaging Het
Sh3tc1 G A 5: 35,703,352 R1054W probably damaging Het
Smarcal1 C T 1: 72,633,055 probably benign Het
Spata45 T A 1: 191,039,761 M60K probably benign Het
St8sia6 T C 2: 13,656,905 M372V probably damaging Het
Tas2r126 T G 6: 42,434,664 S44A probably benign Het
Tcea3 T A 4: 136,273,634 probably benign Het
Tln1 T C 4: 43,546,857 I840V possibly damaging Het
Ttn T C 2: 76,898,341 probably benign Het
Ubr4 T A 4: 139,460,160 Y3846* probably null Het
Usp47 G A 7: 112,104,049 D1171N probably benign Het
Vmn2r114 G A 17: 23,291,808 T566I probably benign Het
Wdr35 G A 12: 9,008,535 R575Q probably null Het
Xkr5 A T 8: 18,933,667 C454S probably benign Het
Other mutations in Kcnmb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01909:Kcnmb2 APN 3 32198363 unclassified probably benign
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
Posted On2015-04-16