Incidental Mutation 'R9194:Kcnmb2'
| ID |
697849 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnmb2
|
| Ensembl Gene |
ENSMUSG00000037610 |
| Gene Name |
potassium large conductance calcium-activated channel, subfamily M, beta member 2 |
| Synonyms |
3110031N04Rik, 2700049B16Rik |
| MMRRC Submission |
068953-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R9194 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
31956656-32254329 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32236174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 141
(K141R)
|
| 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: K141R
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112531
Gene: ENSMUSG00000037610
AA Change: K141R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KcnmB2_inactiv
|
1 |
32 |
4.5e-22 |
PFAM |
|
Pfam:CaKB
|
38 |
229 |
3e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119970
AA Change: K141R
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113234
Gene: ENSMUSG00000037610
AA Change: K141R
| Domain | Start | End | E-Value | Type |
|---|
|
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: K141R
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000136596
Gene: ENSMUSG00000037610
AA Change: K141R
| Domain | Start | End | E-Value | Type |
|---|
|
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: K141R
PolyPhen 2
Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141955
Gene: ENSMUSG00000037610
AA Change: K141R
| Domain | Start | End | E-Value | Type |
|---|
|
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: K141R
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141656
Gene: ENSMUSG00000037610
AA Change: K141R
| Domain | Start | End | E-Value | Type |
|---|
|
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
94% (44/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,166,371 (GRCm39) |
M1K |
probably null |
Het |
| Adra1b |
A |
T |
11: 43,726,263 (GRCm39) |
V218D |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,606,255 (GRCm39) |
S1216G |
possibly damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cfap44 |
G |
T |
16: 44,288,824 (GRCm39) |
D1525Y |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,439,650 (GRCm39) |
M2341K |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,319 (GRCm39) |
T249A |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,850 (GRCm39) |
V336A |
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,419,153 (GRCm39) |
L648P |
probably benign |
Het |
| Dhx16 |
T |
C |
17: 36,200,173 (GRCm39) |
V864A |
probably benign |
Het |
| Enpp3 |
G |
A |
10: 24,675,092 (GRCm39) |
H362Y |
possibly damaging |
Het |
| Ess2 |
A |
T |
16: 17,728,028 (GRCm39) |
D79E |
probably damaging |
Het |
| Fam83c |
T |
A |
2: 155,671,299 (GRCm39) |
Y712F |
probably damaging |
Het |
| Helz |
C |
T |
11: 107,561,113 (GRCm39) |
Q1392* |
probably null |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,479,961 (GRCm39) |
H143R |
probably benign |
Het |
| Itgb5 |
A |
G |
16: 33,720,881 (GRCm39) |
D315G |
probably damaging |
Het |
| Lrrc37a |
G |
A |
11: 103,391,676 (GRCm39) |
P1250S |
probably benign |
Het |
| Mcm5 |
T |
G |
8: 75,836,962 (GRCm39) |
V110G |
probably damaging |
Het |
| Med27 |
G |
A |
2: 29,361,312 (GRCm39) |
D163N |
probably damaging |
Het |
| Mms22l |
C |
A |
4: 24,600,185 (GRCm39) |
Y1129* |
probably null |
Het |
| Mov10l1 |
G |
A |
15: 88,931,023 (GRCm39) |
R1081H |
probably damaging |
Het |
| Mtpap |
C |
T |
18: 4,380,834 (GRCm39) |
Q171* |
probably null |
Het |
| Mtpap |
C |
G |
18: 4,380,833 (GRCm39) |
N170K |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,153,836 (GRCm39) |
F271I |
unknown |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nfatc1 |
C |
T |
18: 80,751,258 (GRCm39) |
A26T |
probably benign |
Het |
| Or7d11 |
C |
A |
9: 19,966,543 (GRCm39) |
C72F |
probably damaging |
Het |
| Piezo2 |
G |
C |
18: 63,250,815 (GRCm39) |
T428S |
probably benign |
Het |
| Prkch |
A |
G |
12: 73,768,616 (GRCm39) |
E462G |
probably damaging |
Het |
| Rbm20 |
A |
G |
19: 53,823,131 (GRCm39) |
Y576C |
probably damaging |
Het |
| Riok3 |
TTTCATT |
TTT |
18: 12,282,642 (GRCm39) |
|
probably null |
Het |
| Rpp40 |
C |
T |
13: 36,080,898 (GRCm39) |
D302N |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,615,969 (GRCm39) |
V631A |
probably damaging |
Het |
| Sstr2 |
A |
G |
11: 113,515,203 (GRCm39) |
T41A |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,843,371 (GRCm39) |
V861E |
possibly damaging |
Het |
| Tomm70a |
A |
G |
16: 56,973,070 (GRCm39) |
K603E |
possibly damaging |
Het |
| Tpd52l2 |
T |
A |
2: 181,141,683 (GRCm39) |
M22K |
possibly damaging |
Het |
| Tpst1 |
T |
A |
5: 130,130,860 (GRCm39) |
L110Q |
possibly damaging |
Het |
| Tram1l1 |
A |
G |
3: 124,115,137 (GRCm39) |
Y99C |
possibly damaging |
Het |
| Ttc39b |
A |
G |
4: 83,181,977 (GRCm39) |
F81L |
possibly damaging |
Het |
| Ubr1 |
A |
G |
2: 120,778,325 (GRCm39) |
Y238H |
probably damaging |
Het |
| Vmn1r202 |
G |
T |
13: 22,686,316 (GRCm39) |
H34N |
possibly damaging |
Het |
| Vmn1r36 |
G |
A |
6: 66,693,036 (GRCm39) |
Q280* |
probably null |
Het |
| Xpnpep1 |
A |
T |
19: 53,000,289 (GRCm39) |
V187E |
possibly damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,349 (GRCm39) |
I438V |
probably benign |
Het |
|
| Other mutations in Kcnmb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01909:Kcnmb2
|
APN |
3 |
32,252,512 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02153:Kcnmb2
|
APN |
3 |
32,232,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02211:Kcnmb2
|
APN |
3 |
32,252,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03019:Kcnmb2
|
APN |
3 |
32,252,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03095:Kcnmb2
|
APN |
3 |
32,252,276 (GRCm39) |
makesense |
probably null |
|
|
R0334:Kcnmb2
|
UTSW |
3 |
32,252,508 (GRCm39) |
splice site |
probably null |
|
|
R1781:Kcnmb2
|
UTSW |
3 |
32,233,152 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2064:Kcnmb2
|
UTSW |
3 |
32,252,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3858:Kcnmb2
|
UTSW |
3 |
32,252,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4371:Kcnmb2
|
UTSW |
3 |
32,210,251 (GRCm39) |
splice site |
probably null |
|
|
R4766:Kcnmb2
|
UTSW |
3 |
32,236,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Kcnmb2
|
UTSW |
3 |
32,252,291 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6063:Kcnmb2
|
UTSW |
3 |
32,233,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6240:Kcnmb2
|
UTSW |
3 |
32,236,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6928:Kcnmb2
|
UTSW |
3 |
32,253,190 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6939:Kcnmb2
|
UTSW |
3 |
32,252,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7683:Kcnmb2
|
UTSW |
3 |
32,252,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8808:Kcnmb2
|
UTSW |
3 |
32,252,266 (GRCm39) |
missense |
probably benign |
|
|
R9457:Kcnmb2
|
UTSW |
3 |
32,236,018 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTGCTGAATGTGTCAATCAC -3'
(R):5'- TCTGTGCTTGCTTTGACAGAC -3'
Sequencing Primer
(F):5'- CAGAAACGTTTAACTGTTCCTTCAGC -3'
(R):5'- CTTGCTTTGACAGACTTGGGTTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation