Incidental Mutation 'R6552:Kcnn2'
| ID |
521758 |
| 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 |
| MMRRC Submission |
044677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R6552 (G1)
|
| Quality Score |
212.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
45401927-45819091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45693165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 247
(H247R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066890]
[ENSMUST00000169783]
[ENSMUST00000183850]
[ENSMUST00000211323]
|
| AlphaFold |
P58390 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066890
AA Change: H247R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: H247R
| 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: ENSMUST00000183897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184101
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211323
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang5 |
A |
T |
14: 44,200,254 (GRCm39) |
H106L |
probably benign |
Het |
| Arsk |
A |
G |
13: 76,220,315 (GRCm39) |
Y260H |
probably damaging |
Het |
| Atxn2l |
C |
T |
7: 126,092,993 (GRCm39) |
V833M |
possibly damaging |
Het |
| Bpifa6 |
G |
A |
2: 153,829,078 (GRCm39) |
D202N |
probably damaging |
Het |
| Ccdc103 |
A |
G |
11: 102,774,970 (GRCm39) |
S190G |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,576,112 (GRCm39) |
V2083I |
probably damaging |
Het |
| Creb5 |
A |
G |
6: 53,662,369 (GRCm39) |
D222G |
probably damaging |
Het |
| Cyp7a1 |
C |
T |
4: 6,272,361 (GRCm39) |
W284* |
probably null |
Het |
| Dnmt3a |
T |
C |
12: 3,957,623 (GRCm39) |
V868A |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,729,339 (GRCm39) |
D680G |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epb41l4a |
A |
G |
18: 34,012,032 (GRCm39) |
Y163H |
probably damaging |
Het |
| Gabra1 |
A |
T |
11: 42,037,926 (GRCm39) |
S231T |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,343,299 (GRCm39) |
F42I |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,541,814 (GRCm39) |
S1187N |
probably benign |
Het |
| Haspin |
A |
G |
11: 73,028,390 (GRCm39) |
V233A |
probably benign |
Het |
| Il34 |
T |
A |
8: 111,469,059 (GRCm39) |
K187I |
probably benign |
Het |
| Klf5 |
T |
C |
14: 99,539,078 (GRCm39) |
S84P |
probably benign |
Het |
| Lama5 |
G |
T |
2: 179,822,947 (GRCm39) |
P2773Q |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,311 (GRCm39) |
M404V |
possibly damaging |
Het |
| Lrp6 |
A |
T |
6: 134,431,692 (GRCm39) |
S1473T |
probably benign |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
| Mn1 |
T |
C |
5: 111,568,753 (GRCm39) |
S908P |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or2ag13 |
TGAAGCC |
T |
7: 106,313,850 (GRCm39) |
|
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,046 (GRCm39) |
M340L |
probably benign |
Het |
| Pex1 |
G |
A |
5: 3,673,953 (GRCm39) |
E748K |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,411,504 (GRCm39) |
V343A |
possibly damaging |
Het |
| Rho |
A |
G |
6: 115,908,709 (GRCm39) |
|
probably null |
Het |
| Sdhaf4 |
C |
A |
1: 24,044,687 (GRCm39) |
|
probably benign |
Het |
| Sec24d |
A |
G |
3: 123,084,201 (GRCm39) |
I127V |
probably benign |
Het |
| Siae |
T |
C |
9: 37,557,696 (GRCm39) |
V501A |
possibly damaging |
Het |
| Skint3 |
T |
C |
4: 112,147,482 (GRCm39) |
Y402H |
possibly damaging |
Het |
| Skint6 |
A |
C |
4: 112,924,687 (GRCm39) |
V515G |
possibly damaging |
Het |
| Slc23a1 |
C |
A |
18: 35,755,391 (GRCm39) |
G475C |
probably damaging |
Het |
| Smad9 |
A |
G |
3: 54,690,167 (GRCm39) |
Y129C |
probably damaging |
Het |
| Snw1 |
A |
G |
12: 87,506,189 (GRCm39) |
|
probably null |
Het |
| Spice1 |
A |
G |
16: 44,199,396 (GRCm39) |
D616G |
possibly damaging |
Het |
| Stam2 |
T |
C |
2: 52,598,239 (GRCm39) |
|
probably null |
Het |
| Sumo3 |
G |
T |
10: 77,442,091 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
G |
12: 75,937,015 (GRCm39) |
N204K |
possibly damaging |
Het |
| Tmem200a |
T |
C |
10: 25,869,381 (GRCm39) |
N296S |
probably damaging |
Het |
| Ttbk1 |
G |
T |
17: 46,789,888 (GRCm39) |
T125N |
probably benign |
Het |
| Ubr2 |
G |
T |
17: 47,277,194 (GRCm39) |
|
probably null |
Het |
| Vmn1r80 |
C |
T |
7: 11,927,684 (GRCm39) |
L265F |
probably damaging |
Het |
| Vwa8 |
A |
T |
14: 79,435,662 (GRCm39) |
T1791S |
possibly 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAATGTGAGCGAGCTGAC -3'
(R):5'- TTGTGCTCCGGCTTAGACAC -3'
Sequencing Primer
(F):5'- TGACGCCGTCCAGCCATG -3'
(R):5'- TTAGACACCACGATCTCCGGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation