Incidental Mutation 'IGL03116:Kcnn2'
ID |
419421 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL03116
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
45401927-45819091 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45788273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 192
(D192V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129659
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066890]
[ENSMUST00000169783]
[ENSMUST00000183850]
[ENSMUST00000211323]
|
AlphaFold |
P58390 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066890
AA Change: D597V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000067884 Gene: ENSMUSG00000054477 AA Change: D597V
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 damaging
Transcript: ENSMUST00000169783
AA Change: D192V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129659 Gene: ENSMUSG00000054477 AA Change: D192V
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 damaging
Transcript: ENSMUST00000183850
AA Change: D332V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139350 Gene: ENSMUSG00000054477 AA Change: D332V
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 damaging
Transcript: ENSMUST00000211323
AA Change: D332V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810030O07Rik |
T |
C |
X: 12,535,892 (GRCm39) |
|
probably benign |
Het |
9530068E07Rik |
A |
G |
11: 52,294,331 (GRCm39) |
I199V |
probably benign |
Het |
Aasdh |
A |
T |
5: 77,049,936 (GRCm39) |
|
probably null |
Het |
Aatk |
T |
C |
11: 119,907,577 (GRCm39) |
I84V |
probably benign |
Het |
Adcy1 |
A |
G |
11: 7,100,071 (GRCm39) |
H727R |
probably benign |
Het |
Aff2 |
T |
C |
X: 68,878,092 (GRCm39) |
V626A |
probably benign |
Het |
Ano2 |
C |
A |
6: 125,957,134 (GRCm39) |
Y634* |
probably null |
Het |
Apob |
C |
A |
12: 8,066,350 (GRCm39) |
Q4407K |
probably damaging |
Het |
Asz1 |
T |
C |
6: 18,076,642 (GRCm39) |
|
probably benign |
Het |
Atp2b4 |
T |
G |
1: 133,656,506 (GRCm39) |
T715P |
possibly damaging |
Het |
Brip1 |
G |
T |
11: 85,955,735 (GRCm39) |
S926* |
probably null |
Het |
Cpd |
A |
T |
11: 76,702,539 (GRCm39) |
Y610N |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,707,057 (GRCm39) |
|
probably benign |
Het |
Dido1 |
G |
A |
2: 180,312,772 (GRCm39) |
T1041I |
probably damaging |
Het |
Dpp8 |
A |
T |
9: 64,973,749 (GRCm39) |
T658S |
probably damaging |
Het |
Efcab3 |
T |
A |
11: 104,612,359 (GRCm39) |
S661T |
probably benign |
Het |
Fcer1a |
G |
A |
1: 173,049,128 (GRCm39) |
Q172* |
probably null |
Het |
Frem3 |
A |
G |
8: 81,339,435 (GRCm39) |
E576G |
possibly damaging |
Het |
Gcsam |
T |
C |
16: 45,440,431 (GRCm39) |
F136S |
possibly damaging |
Het |
Glmn |
T |
G |
5: 107,698,949 (GRCm39) |
T430P |
probably damaging |
Het |
Gm5934 |
T |
C |
X: 24,340,931 (GRCm39) |
N194S |
probably benign |
Het |
Gpatch11 |
T |
A |
17: 79,151,282 (GRCm39) |
L231* |
probably null |
Het |
Hibadh |
A |
T |
6: 52,525,917 (GRCm39) |
N244K |
probably damaging |
Het |
Kank2 |
A |
G |
9: 21,684,060 (GRCm39) |
V723A |
probably damaging |
Het |
Ksr2 |
G |
A |
5: 117,846,022 (GRCm39) |
E630K |
probably benign |
Het |
Lmod3 |
T |
C |
6: 97,224,156 (GRCm39) |
H555R |
possibly damaging |
Het |
Mycs |
A |
G |
X: 5,380,922 (GRCm39) |
F53L |
probably damaging |
Het |
Ndufa10 |
G |
A |
1: 92,392,109 (GRCm39) |
Q215* |
probably null |
Het |
Ninl |
C |
T |
2: 150,806,139 (GRCm39) |
A361T |
probably damaging |
Het |
Pbsn |
A |
G |
X: 76,891,624 (GRCm39) |
C58R |
probably damaging |
Het |
Pcsk1 |
T |
A |
13: 75,280,335 (GRCm39) |
L720Q |
probably damaging |
Het |
Prss12 |
T |
C |
3: 123,299,925 (GRCm39) |
F679L |
probably benign |
Het |
Sohlh1 |
C |
T |
2: 25,735,660 (GRCm39) |
|
probably null |
Het |
Sspo |
T |
C |
6: 48,471,035 (GRCm39) |
F701L |
probably benign |
Het |
Tdp1 |
T |
C |
12: 99,921,290 (GRCm39) |
S609P |
probably benign |
Het |
Tmtc4 |
T |
A |
14: 123,165,044 (GRCm39) |
N605I |
probably benign |
Het |
Tnc |
G |
A |
4: 63,932,270 (GRCm39) |
P715S |
probably damaging |
Het |
Ubn2 |
T |
C |
6: 38,468,834 (GRCm39) |
S1181P |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,206,892 (GRCm39) |
|
probably benign |
Het |
Vmn1r46 |
T |
C |
6: 89,953,898 (GRCm39) |
F249S |
probably benign |
Het |
Zfp382 |
T |
C |
7: 29,833,614 (GRCm39) |
S422P |
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 |
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 |
|
I2288:Kcnn2
|
UTSW |
18 |
45,808,340 (GRCm39) |
intron |
probably benign |
|
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 |
2016-08-02 |