Incidental Mutation 'R9183:Kcnn2'
| ID |
697219 |
| 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 |
068950-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R9183 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
45401927-45819091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45694379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 188
(I188T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066890]
[ENSMUST00000169783]
[ENSMUST00000183850]
[ENSMUST00000211323]
|
| AlphaFold |
P58390 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066890
AA Change: I453T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: I453T
| 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 |
probably benign
Transcript: ENSMUST00000169783
AA Change: I188T
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000129659
Gene: ENSMUSG00000054477
AA Change: I188T
| 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: I188T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139350
Gene: ENSMUSG00000054477
AA Change: I188T
| 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 |
probably damaging
Transcript: ENSMUST00000211323
AA Change: I188T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
A |
G |
14: 8,251,559 (GRCm38) |
C313R |
probably damaging |
Het |
| Adap2 |
A |
G |
11: 80,045,882 (GRCm39) |
N54S |
probably damaging |
Het |
| Adcy8 |
T |
C |
15: 64,694,116 (GRCm39) |
D387G |
probably damaging |
Het |
| Adgra1 |
G |
A |
7: 139,455,716 (GRCm39) |
R448Q |
probably benign |
Het |
| Antxr1 |
A |
T |
6: 87,264,025 (GRCm39) |
D148E |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,545,627 (GRCm39) |
V1034E |
probably null |
Het |
| Arpp21 |
C |
T |
9: 111,895,066 (GRCm39) |
A731T |
probably benign |
Het |
| Asl |
T |
A |
5: 130,042,312 (GRCm39) |
R255W |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,239,840 (GRCm39) |
S544T |
probably damaging |
Het |
| Atp8a1 |
A |
C |
5: 67,924,378 (GRCm39) |
Y329D |
|
Het |
| Calcr |
A |
T |
6: 3,711,463 (GRCm39) |
I186N |
probably damaging |
Het |
| Cdh18 |
T |
C |
15: 23,227,065 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,706,595 (GRCm39) |
L1026P |
probably damaging |
Het |
| Ces2a |
T |
A |
8: 105,460,774 (GRCm39) |
V24E |
possibly damaging |
Het |
| Clybl |
T |
C |
14: 122,639,387 (GRCm39) |
I317T |
probably damaging |
Het |
| Col13a1 |
T |
A |
10: 61,699,758 (GRCm39) |
T476S |
unknown |
Het |
| Cyp4f15 |
T |
C |
17: 32,919,205 (GRCm39) |
S343P |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,112 (GRCm39) |
T263A |
probably benign |
Het |
| Fbxo28 |
A |
G |
1: 182,157,526 (GRCm39) |
V97A |
possibly damaging |
Het |
| Frem2 |
C |
T |
3: 53,427,486 (GRCm39) |
V2889I |
probably damaging |
Het |
| Garnl3 |
T |
C |
2: 32,895,080 (GRCm39) |
E663G |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,299,186 (GRCm39) |
K338M |
probably damaging |
Het |
| Gfi1 |
A |
G |
5: 107,873,819 (GRCm39) |
|
probably null |
Het |
| Gfod2 |
A |
G |
8: 106,449,653 (GRCm39) |
S95P |
probably benign |
Het |
| H2-T13 |
T |
A |
17: 36,392,382 (GRCm39) |
H31L |
unknown |
Het |
| Heatr1 |
A |
G |
13: 12,436,266 (GRCm39) |
Q1224R |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,437,551 (GRCm39) |
K1059E |
possibly damaging |
Het |
| Hmgcs2 |
C |
T |
3: 98,198,232 (GRCm39) |
A45V |
possibly damaging |
Het |
| Hnmt |
C |
A |
2: 23,893,655 (GRCm39) |
V280L |
probably benign |
Het |
| Ifi35 |
G |
T |
11: 101,348,091 (GRCm39) |
V66L |
probably benign |
Het |
| Klhl8 |
C |
A |
5: 104,012,111 (GRCm39) |
A575S |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,601,446 (GRCm39) |
D225G |
probably benign |
Het |
| Lrtm2 |
T |
C |
6: 119,294,384 (GRCm39) |
Y249C |
probably damaging |
Het |
| Med12l |
C |
T |
3: 58,984,498 (GRCm39) |
R479C |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,352,637 (GRCm39) |
Y709F |
possibly damaging |
Het |
| Nsd2 |
G |
A |
5: 34,028,796 (GRCm39) |
A162T |
probably damaging |
Het |
| Or6c38 |
A |
G |
10: 128,929,201 (GRCm39) |
M214T |
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,957,840 (GRCm39) |
Q49K |
probably benign |
Het |
| Polr2h |
T |
C |
16: 20,539,285 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Prkaa1 |
A |
T |
15: 5,205,969 (GRCm39) |
E275V |
probably damaging |
Het |
| Prss22 |
C |
T |
17: 24,213,592 (GRCm39) |
G233E |
probably damaging |
Het |
| Rhcg |
A |
T |
7: 79,244,564 (GRCm39) |
L496* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,318,448 (GRCm39) |
E1084G |
|
Het |
| Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
| Slc14a1 |
T |
A |
18: 78,154,598 (GRCm39) |
I263F |
probably benign |
Het |
| Slc40a1 |
C |
T |
1: 45,948,671 (GRCm39) |
M536I |
possibly damaging |
Het |
| Slco6c1 |
T |
A |
1: 96,996,775 (GRCm39) |
|
probably null |
Het |
| Stk32a |
T |
C |
18: 43,394,405 (GRCm39) |
F118S |
probably damaging |
Het |
| Sytl1 |
G |
T |
4: 132,980,934 (GRCm39) |
R467S |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,896,526 (GRCm39) |
I788V |
probably benign |
Het |
| Tmed6 |
T |
A |
8: 107,788,390 (GRCm39) |
R186* |
probably null |
Het |
| Trnau1ap |
G |
A |
4: 132,052,565 (GRCm39) |
R78C |
probably damaging |
Het |
| Trpv1 |
A |
T |
11: 73,135,039 (GRCm39) |
D412V |
possibly damaging |
Het |
| Ttc16 |
C |
T |
2: 32,647,329 (GRCm39) |
V688M |
probably benign |
Het |
| Ubr5 |
C |
A |
15: 37,997,420 (GRCm39) |
L1738F |
|
Het |
| Vmn2r89 |
A |
G |
14: 51,692,501 (GRCm39) |
I101M |
probably benign |
Het |
| Wdr27 |
C |
T |
17: 15,148,651 (GRCm39) |
R114Q |
possibly damaging |
Het |
| Wdr48 |
A |
G |
9: 119,749,730 (GRCm39) |
H563R |
possibly damaging |
Het |
| Wdr49 |
A |
C |
3: 75,205,419 (GRCm39) |
S666A |
probably benign |
Het |
| Wwox |
T |
C |
8: 115,433,110 (GRCm39) |
S259P |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,240,354 (GRCm39) |
D12E |
possibly damaging |
Het |
| Zfp800 |
A |
G |
6: 28,243,172 (GRCm39) |
Y598H |
probably benign |
Het |
| Zfp970 |
T |
C |
2: 177,167,536 (GRCm39) |
L370P |
probably damaging |
Het |
| Zmat5 |
A |
T |
11: 4,672,431 (GRCm39) |
D16V |
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 |
|
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 |
|
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'- AATTCAGGTCCACGTGCTCG -3'
(R):5'- AAAGATCTGCCTGTTGCCCTG -3'
Sequencing Primer
(F):5'- CACGTGCTCGGAACTGACTTTTATG -3'
(R):5'- TGCCCTGCTGTGTTGAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation