Incidental Mutation 'R1567:Kcnn2'
ID |
175384 |
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 |
039606-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R1567 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
45401927-45819091 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to G
at 45803401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148153
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066890]
[ENSMUST00000169783]
[ENSMUST00000169783]
[ENSMUST00000183850]
[ENSMUST00000211323]
[ENSMUST00000211323]
|
AlphaFold |
P58390 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000211323
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211323
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
G |
A |
7: 120,030,352 (GRCm39) |
V155I |
probably benign |
Het |
Actrt2 |
T |
C |
4: 154,751,371 (GRCm39) |
Q255R |
possibly damaging |
Het |
Adar |
A |
T |
3: 89,643,088 (GRCm39) |
H323L |
probably benign |
Het |
Adgrg5 |
T |
A |
8: 95,664,326 (GRCm39) |
V312E |
probably damaging |
Het |
Anapc1 |
T |
C |
2: 128,459,636 (GRCm39) |
T1808A |
probably damaging |
Het |
Aox3 |
C |
A |
1: 58,233,852 (GRCm39) |
A1285E |
probably damaging |
Het |
Arhgap40 |
T |
A |
2: 158,388,719 (GRCm39) |
L551Q |
probably damaging |
Het |
Blk |
A |
G |
14: 63,618,178 (GRCm39) |
S243P |
probably damaging |
Het |
Cfap206 |
G |
T |
4: 34,716,490 (GRCm39) |
A325E |
probably benign |
Het |
Cimap1b |
C |
A |
15: 89,261,981 (GRCm39) |
R137L |
probably benign |
Het |
Cnn3 |
A |
T |
3: 121,243,607 (GRCm39) |
K23* |
probably null |
Het |
Cog8 |
G |
A |
8: 107,780,740 (GRCm39) |
R173* |
probably null |
Het |
Col11a1 |
G |
A |
3: 113,932,261 (GRCm39) |
R880H |
unknown |
Het |
Cyp2c40 |
T |
C |
19: 39,792,215 (GRCm39) |
Q243R |
probably null |
Het |
Dcbld1 |
A |
G |
10: 52,195,752 (GRCm39) |
E391G |
probably damaging |
Het |
Dchs1 |
C |
A |
7: 105,421,068 (GRCm39) |
A451S |
probably benign |
Het |
Ddx43 |
A |
G |
9: 78,323,991 (GRCm39) |
K441E |
probably damaging |
Het |
Depdc1a |
A |
T |
3: 159,228,177 (GRCm39) |
I310F |
possibly damaging |
Het |
Dnah17 |
C |
T |
11: 118,016,811 (GRCm39) |
V247M |
probably damaging |
Het |
Dtd1 |
G |
T |
2: 144,588,945 (GRCm39) |
G201V |
probably damaging |
Het |
Eif1ad3 |
A |
T |
12: 87,843,754 (GRCm39) |
I134F |
unknown |
Het |
Enoph1 |
G |
A |
5: 100,208,884 (GRCm39) |
G80S |
probably benign |
Het |
Fam76a |
A |
T |
4: 132,645,039 (GRCm39) |
Y48* |
probably null |
Het |
Fut9 |
T |
G |
4: 25,620,344 (GRCm39) |
T157P |
probably damaging |
Het |
Gm57859 |
T |
A |
11: 113,578,728 (GRCm39) |
V41D |
probably damaging |
Het |
Gtpbp1 |
T |
C |
15: 79,596,391 (GRCm39) |
I310T |
probably damaging |
Het |
Hk3 |
T |
A |
13: 55,154,418 (GRCm39) |
I753F |
probably damaging |
Het |
Hnrnpl |
G |
T |
7: 28,519,608 (GRCm39) |
A419S |
possibly damaging |
Het |
Ighv5-6 |
T |
C |
12: 113,589,528 (GRCm39) |
|
probably benign |
Het |
Itpkb |
A |
G |
1: 180,249,423 (GRCm39) |
T933A |
probably benign |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Lmcd1 |
C |
T |
6: 112,287,526 (GRCm39) |
R71C |
probably damaging |
Het |
Mrgprb1 |
A |
T |
7: 48,097,201 (GRCm39) |
V237E |
probably damaging |
Het |
Mybl1 |
T |
A |
1: 9,755,976 (GRCm39) |
E191V |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,335,279 (GRCm39) |
F158I |
possibly damaging |
Het |
Nbr1 |
C |
G |
11: 101,466,037 (GRCm39) |
L748V |
probably damaging |
Het |
Nlrp10 |
G |
A |
7: 108,526,257 (GRCm39) |
T27M |
probably benign |
Het |
Notch3 |
G |
A |
17: 32,377,554 (GRCm39) |
T174I |
possibly damaging |
Het |
Nup85 |
T |
A |
11: 115,459,224 (GRCm39) |
I109K |
possibly damaging |
Het |
Or10h28 |
A |
G |
17: 33,488,450 (GRCm39) |
I251V |
probably benign |
Het |
Or2b28 |
A |
T |
13: 21,531,595 (GRCm39) |
I166L |
probably benign |
Het |
Or2n1e |
A |
G |
17: 38,586,459 (GRCm39) |
I266V |
possibly damaging |
Het |
Or4c12b |
T |
C |
2: 89,647,528 (GRCm39) |
L280P |
probably damaging |
Het |
Or4k48 |
G |
T |
2: 111,476,271 (GRCm39) |
Q24K |
possibly damaging |
Het |
Or5b105 |
T |
C |
19: 13,080,006 (GRCm39) |
T221A |
probably benign |
Het |
Phf2 |
T |
C |
13: 48,985,589 (GRCm39) |
K64E |
unknown |
Het |
Polr2a |
T |
C |
11: 69,636,857 (GRCm39) |
T365A |
probably benign |
Het |
Prkcd |
A |
G |
14: 30,329,405 (GRCm39) |
C12R |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,401,748 (GRCm39) |
I1915V |
probably benign |
Het |
Rcbtb2 |
G |
A |
14: 73,399,902 (GRCm39) |
V112I |
probably benign |
Het |
Rxfp3 |
A |
G |
15: 11,036,187 (GRCm39) |
V395A |
probably benign |
Het |
Ryr2 |
C |
A |
13: 11,774,563 (GRCm39) |
G1198C |
possibly damaging |
Het |
Scn1a |
T |
A |
2: 66,103,675 (GRCm39) |
I1851F |
probably damaging |
Het |
Selenop |
A |
G |
15: 3,309,180 (GRCm39) |
*377W |
probably null |
Het |
Sema4a |
A |
T |
3: 88,359,353 (GRCm39) |
C113S |
probably damaging |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Speg |
T |
C |
1: 75,404,691 (GRCm39) |
S2575P |
probably benign |
Het |
Stk24 |
T |
A |
14: 121,545,468 (GRCm39) |
I97L |
probably benign |
Het |
Tap2 |
A |
G |
17: 34,433,065 (GRCm39) |
K449R |
probably benign |
Het |
Tecpr2 |
T |
A |
12: 110,908,030 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,727,955 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,246,505 (GRCm39) |
F1204L |
possibly damaging |
Het |
Ugt2b36 |
T |
C |
5: 87,240,258 (GRCm39) |
I42M |
probably damaging |
Het |
Zdhhc8 |
A |
G |
16: 18,044,984 (GRCm39) |
L274P |
probably benign |
Het |
Zfp974 |
C |
A |
7: 27,610,148 (GRCm39) |
D526Y |
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 |
|
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 |
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'- CTTGCTGGTCTCATCCCAAGAGAAG -3'
(R):5'- ACCTGAAGTTAGGTTGTCCACTTGC -3'
Sequencing Primer
(F):5'- CTGTCATACTTATGGAAGACACTG -3'
(R):5'- AGGTTGTCCACTTGCAAAACTC -3'
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Posted On |
2014-04-24 |