Incidental Mutation 'R0468:Kcnn2'
| ID |
41773 |
| 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 |
038668-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R0468 (G1)
|
| Quality Score |
168 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
45401927-45819091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45692538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 38
(T38M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066890]
[ENSMUST00000169783]
[ENSMUST00000183850]
[ENSMUST00000211323]
|
| AlphaFold |
P58390 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066890
AA Change: T38M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: T38M
| 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
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
100% (61/61) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,240,084 (GRCm39) |
H1298R |
possibly damaging |
Het |
| 5530400C23Rik |
T |
C |
6: 133,271,421 (GRCm39) |
L155P |
probably benign |
Het |
| 6820408C15Rik |
A |
T |
2: 152,283,186 (GRCm39) |
R283S |
probably benign |
Het |
| Aldh1l2 |
T |
A |
10: 83,354,542 (GRCm39) |
E104D |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,958,958 (GRCm39) |
V22A |
probably benign |
Het |
| Bcl7b |
T |
C |
5: 135,209,737 (GRCm39) |
F188L |
probably benign |
Het |
| Brinp1 |
T |
A |
4: 68,681,013 (GRCm39) |
I506F |
probably damaging |
Het |
| Bsdc1 |
T |
C |
4: 129,355,511 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
T |
C |
4: 45,923,271 (GRCm39) |
I1075T |
possibly damaging |
Het |
| Cep162 |
A |
G |
9: 87,075,750 (GRCm39) |
L1294P |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,595,452 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
T |
C |
3: 114,010,707 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,252,042 (GRCm39) |
Y566F |
unknown |
Het |
| Dhx29 |
A |
G |
13: 113,099,811 (GRCm39) |
Q1148R |
probably benign |
Het |
| Ehbp1 |
A |
G |
11: 22,119,184 (GRCm39) |
|
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,112,374 (GRCm39) |
H46R |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,226,433 (GRCm39) |
V522A |
probably benign |
Het |
| Gm4553 |
C |
A |
7: 141,719,362 (GRCm39) |
C22F |
unknown |
Het |
| Hibadh |
C |
T |
6: 52,534,755 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,260,840 (GRCm39) |
C1613Y |
probably damaging |
Het |
| Hydin |
G |
T |
8: 111,139,855 (GRCm39) |
C708F |
possibly damaging |
Het |
| Ifi208 |
A |
T |
1: 173,511,047 (GRCm39) |
M401L |
probably benign |
Het |
| Igsf8 |
G |
A |
1: 172,146,363 (GRCm39) |
V454M |
probably damaging |
Het |
| Irx4 |
G |
T |
13: 73,414,839 (GRCm39) |
|
probably benign |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| L3mbtl3 |
C |
T |
10: 26,203,630 (GRCm39) |
R400H |
unknown |
Het |
| Lrp6 |
T |
C |
6: 134,462,624 (GRCm39) |
T679A |
possibly damaging |
Het |
| Map9 |
T |
C |
3: 82,281,510 (GRCm39) |
|
probably null |
Het |
| Men1 |
T |
A |
19: 6,386,953 (GRCm39) |
V5E |
probably null |
Het |
| Mettl14 |
T |
C |
3: 123,165,061 (GRCm39) |
D93G |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,101,568 (GRCm39) |
R4601S |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 49,878,594 (GRCm39) |
T272A |
probably damaging |
Het |
| Or10ag53 |
A |
T |
2: 87,082,599 (GRCm39) |
N106I |
probably benign |
Het |
| Or2ak6 |
A |
T |
11: 58,592,619 (GRCm39) |
I31F |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,727,302 (GRCm39) |
|
probably benign |
Het |
| Pdia5 |
A |
G |
16: 35,217,877 (GRCm39) |
L502P |
probably damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Plxna4 |
C |
A |
6: 32,192,181 (GRCm39) |
C803F |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,240,600 (GRCm39) |
|
probably null |
Het |
| Ptgs1 |
A |
G |
2: 36,139,205 (GRCm39) |
Y468C |
probably damaging |
Het |
| Pxdn |
G |
T |
12: 30,044,485 (GRCm39) |
G488W |
probably damaging |
Het |
| Safb |
C |
T |
17: 56,913,025 (GRCm39) |
R914C |
probably damaging |
Het |
| Sec31b |
T |
A |
19: 44,506,947 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
G |
A |
15: 89,433,478 (GRCm39) |
V1333I |
probably benign |
Het |
| Slamf1 |
A |
G |
1: 171,619,939 (GRCm39) |
|
probably benign |
Het |
| Slc23a3 |
T |
A |
1: 75,109,874 (GRCm39) |
Q131L |
possibly damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,338,500 (GRCm39) |
V303A |
probably damaging |
Het |
| Slc7a13 |
T |
A |
4: 19,841,500 (GRCm39) |
V449D |
probably benign |
Het |
| Srp68 |
A |
T |
11: 116,139,590 (GRCm39) |
I453K |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,162,030 (GRCm39) |
V414D |
probably damaging |
Het |
| Tagln2 |
A |
G |
1: 172,333,788 (GRCm39) |
N131D |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 128,346,267 (GRCm39) |
Y85C |
probably damaging |
Het |
| Vcam1 |
A |
T |
3: 115,909,595 (GRCm39) |
Y577* |
probably null |
Het |
| Vmn1r214 |
A |
G |
13: 23,219,423 (GRCm39) |
T306A |
probably benign |
Het |
| Zfyve1 |
A |
T |
12: 83,602,048 (GRCm39) |
|
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,355,690 (GRCm39) |
N305K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCGCAAACTCAGTCTTGGTCCCT -3'
(R):5'- ACGGCGTCAGCTCGCTCACATT -3'
Sequencing Primer
(F):5'- GGTGATGTCATGCCCATTGTT -3'
(R):5'- CAGGTTATcccccgccc -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation