Incidental Mutation 'I2288:Kcnn2'
ID |
7879 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnn2
|
Ensembl Gene |
ENSMUSG00000054477 |
Gene Name |
potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 |
Synonyms |
small conductance calcium-activated potassium channel 2, bc, fri, SK2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
I2288 (G3)
of strain
633
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
45401927-45819091 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 45808340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148153
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066890]
[ENSMUST00000169783]
[ENSMUST00000183850]
[ENSMUST00000211323]
|
AlphaFold |
P58390 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066890
|
SMART Domains |
Protein: ENSMUSP00000067884 Gene: ENSMUSG00000054477
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
76 |
N/A |
INTRINSIC |
low complexity region
|
84 |
90 |
N/A |
INTRINSIC |
low complexity region
|
98 |
114 |
N/A |
INTRINSIC |
low complexity region
|
129 |
141 |
N/A |
INTRINSIC |
low complexity region
|
158 |
180 |
N/A |
INTRINSIC |
low complexity region
|
198 |
212 |
N/A |
INTRINSIC |
low complexity region
|
219 |
254 |
N/A |
INTRINSIC |
low complexity region
|
279 |
289 |
N/A |
INTRINSIC |
low complexity region
|
301 |
326 |
N/A |
INTRINSIC |
low complexity region
|
345 |
373 |
N/A |
INTRINSIC |
Pfam:SK_channel
|
380 |
493 |
2.2e-51 |
PFAM |
transmembrane domain
|
516 |
535 |
N/A |
INTRINSIC |
Pfam:Ion_trans_2
|
572 |
658 |
2.2e-14 |
PFAM |
CaMBD
|
672 |
748 |
6.51e-51 |
SMART |
coiled coil region
|
751 |
784 |
N/A |
INTRINSIC |
low complexity region
|
815 |
839 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167895
|
SMART Domains |
Protein: ENSMUSP00000126285 Gene: ENSMUSG00000054477
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
24 |
N/A |
INTRINSIC |
low complexity region
|
36 |
61 |
N/A |
INTRINSIC |
low complexity region
|
80 |
108 |
N/A |
INTRINSIC |
Pfam:SK_channel
|
115 |
233 |
7e-61 |
PFAM |
transmembrane domain
|
251 |
270 |
N/A |
INTRINSIC |
Pfam:Ion_trans_2
|
306 |
394 |
6.2e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169783
|
SMART Domains |
Protein: ENSMUSP00000129659 Gene: ENSMUSG00000054477
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
24 |
N/A |
INTRINSIC |
low complexity region
|
36 |
61 |
N/A |
INTRINSIC |
low complexity region
|
80 |
108 |
N/A |
INTRINSIC |
Pfam:SK_channel
|
115 |
215 |
1.4e-36 |
PFAM |
Pfam:Ion_trans_2
|
169 |
254 |
9.5e-15 |
PFAM |
CaMBD
|
267 |
343 |
6.51e-51 |
SMART |
coiled coil region
|
346 |
379 |
N/A |
INTRINSIC |
low complexity region
|
410 |
434 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183850
|
SMART Domains |
Protein: ENSMUSP00000139350 Gene: ENSMUSG00000054477
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
76 |
N/A |
INTRINSIC |
low complexity region
|
84 |
90 |
N/A |
INTRINSIC |
low complexity region
|
98 |
114 |
N/A |
INTRINSIC |
low complexity region
|
129 |
141 |
N/A |
INTRINSIC |
low complexity region
|
158 |
180 |
N/A |
INTRINSIC |
low complexity region
|
198 |
212 |
N/A |
INTRINSIC |
low complexity region
|
219 |
254 |
N/A |
INTRINSIC |
low complexity region
|
279 |
289 |
N/A |
INTRINSIC |
low complexity region
|
301 |
326 |
N/A |
INTRINSIC |
low complexity region
|
345 |
373 |
N/A |
INTRINSIC |
Pfam:SK_channel
|
380 |
498 |
2.9e-60 |
PFAM |
transmembrane domain
|
516 |
535 |
N/A |
INTRINSIC |
Pfam:Ion_trans_2
|
573 |
659 |
1.8e-14 |
PFAM |
CaMBD
|
672 |
748 |
6.51e-51 |
SMART |
coiled coil region
|
751 |
784 |
N/A |
INTRINSIC |
low complexity region
|
815 |
839 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184101
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211323
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
|
Validation Efficiency |
71% (138/195) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a point mutation exhibit tremor and gait abnormalities. Homozygous null mice lack the apamin sensitive component of the medium afterhyperpolarization current but have normal hippocampal morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
A |
T |
8: 25,174,677 (GRCm39) |
I696N |
probably damaging |
Het |
Adgra1 |
T |
C |
7: 139,432,495 (GRCm39) |
I111T |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,585,643 (GRCm39) |
L4607P |
probably damaging |
Het |
Alppl2 |
A |
T |
1: 87,015,898 (GRCm39) |
M284K |
possibly damaging |
Het |
Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,267,392 (GRCm39) |
V624A |
possibly damaging |
Het |
Babam1 |
G |
A |
8: 71,850,467 (GRCm39) |
R32Q |
probably damaging |
Het |
Camk1g |
C |
T |
1: 193,033,414 (GRCm39) |
|
probably benign |
Homo |
Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
Clasp1 |
A |
G |
1: 118,492,959 (GRCm39) |
H1168R |
probably benign |
Het |
Crkl |
A |
G |
16: 17,301,612 (GRCm39) |
T289A |
probably damaging |
Het |
Dlec1 |
A |
G |
9: 118,972,669 (GRCm39) |
D1464G |
probably damaging |
Het |
Dmxl2 |
A |
T |
9: 54,309,077 (GRCm39) |
H1891Q |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,807,164 (GRCm39) |
A150T |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,882,428 (GRCm39) |
T667A |
probably benign |
Het |
Fpr-rs3 |
A |
T |
17: 20,844,757 (GRCm39) |
L128Q |
probably damaging |
Het |
Fxn |
C |
T |
19: 24,239,431 (GRCm39) |
|
probably benign |
Homo |
Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
Gramd1b |
T |
C |
9: 40,218,101 (GRCm39) |
I572V |
probably damaging |
Het |
Iqch |
A |
T |
9: 63,408,172 (GRCm39) |
I664K |
probably benign |
Het |
Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
Lrrc40 |
T |
A |
3: 157,758,426 (GRCm39) |
I277K |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,249,379 (GRCm39) |
E493G |
possibly damaging |
Homo |
Nrcam |
C |
A |
12: 44,611,098 (GRCm39) |
H567Q |
probably benign |
Homo |
Or52d3 |
T |
C |
7: 104,229,593 (GRCm39) |
C247R |
probably damaging |
Het |
Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Homo |
Or5w19 |
T |
A |
2: 87,698,479 (GRCm39) |
I48N |
probably damaging |
Het |
Parvg |
C |
A |
15: 84,212,981 (GRCm39) |
|
probably benign |
Het |
Ripk4 |
A |
G |
16: 97,549,345 (GRCm39) |
V237A |
probably benign |
Het |
Spam1 |
A |
G |
6: 24,796,477 (GRCm39) |
I143V |
probably benign |
Het |
Synj2 |
A |
G |
17: 6,072,542 (GRCm39) |
|
probably benign |
Het |
Taar4 |
A |
G |
10: 23,836,818 (GRCm39) |
T143A |
probably benign |
Het |
Ttc12 |
T |
A |
9: 49,381,558 (GRCm39) |
M138L |
possibly damaging |
Het |
Ttll9 |
A |
G |
2: 152,814,259 (GRCm39) |
|
probably benign |
Het |
Usp34 |
T |
A |
11: 23,382,473 (GRCm39) |
|
probably benign |
Homo |
Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably damaging |
Het |
|
Other mutations in Kcnn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00087:Kcnn2
|
APN |
18 |
45,725,303 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00341:Kcnn2
|
APN |
18 |
45,810,138 (GRCm39) |
splice site |
probably benign |
|
IGL01317:Kcnn2
|
APN |
18 |
45,693,694 (GRCm39) |
splice site |
probably null |
|
IGL02121:Kcnn2
|
APN |
18 |
45,694,340 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02561:Kcnn2
|
APN |
18 |
45,725,259 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL03000:Kcnn2
|
APN |
18 |
45,693,635 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03116:Kcnn2
|
APN |
18 |
45,788,273 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03155:Kcnn2
|
APN |
18 |
45,818,382 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03289:Kcnn2
|
APN |
18 |
45,810,111 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03343:Kcnn2
|
APN |
18 |
45,810,026 (GRCm39) |
missense |
probably damaging |
0.97 |
jitter
|
UTSW |
18 |
45,694,320 (GRCm39) |
synonymous |
silent |
|
R0256:Kcnn2
|
UTSW |
18 |
45,725,472 (GRCm39) |
missense |
probably damaging |
0.98 |
R0310:Kcnn2
|
UTSW |
18 |
45,693,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R0464:Kcnn2
|
UTSW |
18 |
45,693,426 (GRCm39) |
missense |
probably damaging |
0.99 |
R0468:Kcnn2
|
UTSW |
18 |
45,692,538 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0485:Kcnn2
|
UTSW |
18 |
45,693,215 (GRCm39) |
missense |
probably benign |
0.06 |
R0722:Kcnn2
|
UTSW |
18 |
45,692,543 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0898:Kcnn2
|
UTSW |
18 |
45,692,543 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1567:Kcnn2
|
UTSW |
18 |
45,803,401 (GRCm39) |
splice site |
probably null |
|
R4543:Kcnn2
|
UTSW |
18 |
45,692,715 (GRCm39) |
missense |
probably benign |
0.00 |
R4720:Kcnn2
|
UTSW |
18 |
45,816,187 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4732:Kcnn2
|
UTSW |
18 |
45,693,416 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4733:Kcnn2
|
UTSW |
18 |
45,693,416 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4801:Kcnn2
|
UTSW |
18 |
45,818,334 (GRCm39) |
splice site |
probably benign |
|
R4844:Kcnn2
|
UTSW |
18 |
45,816,187 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4927:Kcnn2
|
UTSW |
18 |
45,692,798 (GRCm39) |
missense |
probably benign |
0.01 |
R5011:Kcnn2
|
UTSW |
18 |
45,818,352 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5108:Kcnn2
|
UTSW |
18 |
45,725,122 (GRCm39) |
missense |
probably damaging |
0.99 |
R5805:Kcnn2
|
UTSW |
18 |
45,816,198 (GRCm39) |
missense |
probably damaging |
0.98 |
R5841:Kcnn2
|
UTSW |
18 |
45,692,463 (GRCm39) |
missense |
probably benign |
|
R5888:Kcnn2
|
UTSW |
18 |
45,725,412 (GRCm39) |
missense |
probably damaging |
0.98 |
R5926:Kcnn2
|
UTSW |
18 |
45,818,351 (GRCm39) |
missense |
probably benign |
0.01 |
R6552:Kcnn2
|
UTSW |
18 |
45,693,165 (GRCm39) |
missense |
probably benign |
0.00 |
R6882:Kcnn2
|
UTSW |
18 |
45,692,505 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6999:Kcnn2
|
UTSW |
18 |
45,725,444 (GRCm39) |
missense |
probably damaging |
0.99 |
R7324:Kcnn2
|
UTSW |
18 |
45,693,138 (GRCm39) |
missense |
probably benign |
|
R7509:Kcnn2
|
UTSW |
18 |
45,816,187 (GRCm39) |
missense |
probably benign |
0.32 |
R7667:Kcnn2
|
UTSW |
18 |
45,692,505 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8064:Kcnn2
|
UTSW |
18 |
45,692,426 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
R8122:Kcnn2
|
UTSW |
18 |
45,810,005 (GRCm39) |
missense |
probably damaging |
0.99 |
R8730:Kcnn2
|
UTSW |
18 |
45,725,139 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8768:Kcnn2
|
UTSW |
18 |
45,692,502 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9183:Kcnn2
|
UTSW |
18 |
45,694,379 (GRCm39) |
missense |
probably damaging |
0.99 |
R9278:Kcnn2
|
UTSW |
18 |
45,725,446 (GRCm39) |
missense |
probably damaging |
0.96 |
R9597:Kcnn2
|
UTSW |
18 |
45,816,149 (GRCm39) |
missense |
probably benign |
0.16 |
R9773:Kcnn2
|
UTSW |
18 |
45,788,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2012-11-13 |