Incidental Mutation 'R4844:Kcnn2'
ID |
372074 |
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 |
042457-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R4844 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
45401927-45819091 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45816187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 333
(T333S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129659
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066890]
[ENSMUST00000169783]
[ENSMUST00000183850]
[ENSMUST00000211323]
|
AlphaFold |
P58390 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066890
AA Change: T738S
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000067884 Gene: ENSMUSG00000054477 AA Change: T738S
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 |
possibly damaging
Transcript: ENSMUST00000169783
AA Change: T333S
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000129659 Gene: ENSMUSG00000054477 AA Change: T333S
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
AA Change: T473S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000139350 Gene: ENSMUSG00000054477 AA Change: T473S
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: ENSMUST00000184346
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184994
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211323
AA Change: T473S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Meta Mutation Damage Score |
0.0909 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
97% (68/70) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,634,824 (GRCm39) |
T147A |
probably benign |
Het |
Acvrl1 |
T |
C |
15: 101,033,409 (GRCm39) |
S99P |
probably damaging |
Het |
Adamts3 |
T |
A |
5: 89,825,675 (GRCm39) |
S1055C |
probably damaging |
Het |
Aftph |
T |
C |
11: 20,658,667 (GRCm39) |
|
probably benign |
Het |
Aldh1a1 |
A |
G |
19: 20,611,764 (GRCm39) |
K363E |
probably benign |
Het |
Astn2 |
A |
G |
4: 65,562,967 (GRCm39) |
V886A |
possibly damaging |
Het |
Atad5 |
G |
A |
11: 80,005,137 (GRCm39) |
|
probably null |
Het |
C9orf72 |
A |
G |
4: 35,213,565 (GRCm39) |
V31A |
possibly damaging |
Het |
Ccnf |
G |
T |
17: 24,449,331 (GRCm39) |
Y482* |
probably null |
Het |
Cfap97 |
A |
G |
8: 46,622,712 (GRCm39) |
D34G |
possibly damaging |
Het |
Chst11 |
G |
T |
10: 83,026,923 (GRCm39) |
E117* |
probably null |
Het |
Cobl |
A |
T |
11: 12,204,740 (GRCm39) |
L572Q |
probably benign |
Het |
Coch |
G |
A |
12: 51,649,477 (GRCm39) |
G263S |
probably damaging |
Het |
Coq4 |
T |
C |
2: 29,686,026 (GRCm39) |
I205T |
possibly damaging |
Het |
Cyp3a13 |
A |
T |
5: 137,915,813 (GRCm39) |
I62K |
probably benign |
Het |
Cyp7a1 |
A |
G |
4: 6,273,655 (GRCm39) |
S84P |
probably damaging |
Het |
Dennd10 |
GTCT |
GT |
19: 60,823,435 (GRCm39) |
|
probably null |
Het |
G6pc3 |
G |
A |
11: 102,084,057 (GRCm39) |
|
probably null |
Het |
Gm10576 |
T |
C |
4: 100,911,707 (GRCm39) |
|
noncoding transcript |
Het |
Gm17511 |
G |
A |
7: 126,885,454 (GRCm39) |
|
noncoding transcript |
Het |
Gnat2 |
T |
C |
3: 108,002,831 (GRCm39) |
S80P |
probably damaging |
Het |
Gpaa1 |
C |
T |
15: 76,216,508 (GRCm39) |
|
probably benign |
Het |
Gpr107 |
T |
A |
2: 31,078,686 (GRCm39) |
|
probably null |
Het |
Hormad1 |
T |
C |
3: 95,478,242 (GRCm39) |
Y103H |
probably damaging |
Het |
Ighv14-1 |
T |
G |
12: 113,895,622 (GRCm39) |
Q101P |
probably damaging |
Het |
Igsf9 |
A |
G |
1: 172,324,737 (GRCm39) |
D885G |
probably benign |
Het |
Il15ra |
G |
A |
2: 11,723,082 (GRCm39) |
|
probably benign |
Het |
Islr2 |
C |
T |
9: 58,115,517 (GRCm39) |
|
probably benign |
Het |
Jak3 |
A |
T |
8: 72,134,299 (GRCm39) |
N467I |
possibly damaging |
Het |
Jarid2 |
T |
C |
13: 45,067,248 (GRCm39) |
V1023A |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,520,111 (GRCm39) |
T2000A |
probably benign |
Het |
Lpxn |
A |
G |
19: 12,810,536 (GRCm39) |
T327A |
probably damaging |
Het |
Mxra8 |
A |
G |
4: 155,927,151 (GRCm39) |
T362A |
probably benign |
Het |
Myh6 |
A |
G |
14: 55,184,651 (GRCm39) |
I1560T |
possibly damaging |
Het |
Ndufv1 |
A |
G |
19: 4,062,574 (GRCm39) |
S17P |
probably benign |
Het |
Nwd1 |
A |
T |
8: 73,393,742 (GRCm39) |
H335L |
probably damaging |
Het |
Or1a1 |
A |
G |
11: 74,086,902 (GRCm39) |
D191G |
probably damaging |
Het |
Or2f1b |
T |
A |
6: 42,739,394 (GRCm39) |
M136K |
probably damaging |
Het |
Otop2 |
G |
A |
11: 115,214,201 (GRCm39) |
|
probably null |
Het |
Pwwp2b |
C |
A |
7: 138,835,502 (GRCm39) |
S314R |
probably benign |
Het |
Rfx7 |
C |
T |
9: 72,500,524 (GRCm39) |
Q95* |
probably null |
Het |
Serpine2 |
A |
T |
1: 79,777,241 (GRCm39) |
L192* |
probably null |
Het |
Smpdl3b |
T |
C |
4: 132,465,369 (GRCm39) |
I322M |
probably damaging |
Het |
Spata31d1b |
C |
T |
13: 59,866,169 (GRCm39) |
R1106C |
possibly damaging |
Het |
Sprr2k |
T |
G |
3: 92,336,732 (GRCm39) |
|
probably null |
Het |
St8sia1 |
T |
A |
6: 142,774,996 (GRCm39) |
R194S |
possibly damaging |
Het |
Sv2a |
T |
A |
3: 96,095,695 (GRCm39) |
V337D |
probably damaging |
Het |
Tars1 |
G |
A |
15: 11,385,281 (GRCm39) |
R637W |
possibly damaging |
Het |
Tcp11l2 |
G |
T |
10: 84,449,555 (GRCm39) |
V507L |
probably benign |
Het |
Tpr |
T |
C |
1: 150,321,630 (GRCm39) |
Y2262H |
possibly damaging |
Het |
Vars1 |
A |
G |
17: 35,230,588 (GRCm39) |
E529G |
probably damaging |
Het |
Vash2 |
C |
T |
1: 190,710,691 (GRCm39) |
|
probably benign |
Het |
Vmn1r194 |
T |
C |
13: 22,429,223 (GRCm39) |
V280A |
probably benign |
Het |
Vti1a |
A |
G |
19: 55,380,297 (GRCm39) |
T142A |
probably damaging |
Het |
Zfp111 |
C |
T |
7: 23,898,801 (GRCm39) |
C270Y |
probably damaging |
Het |
Zfp518a |
T |
A |
19: 40,903,340 (GRCm39) |
Y1090N |
probably damaging |
Het |
Zfp616 |
A |
T |
11: 73,975,225 (GRCm39) |
Y498F |
probably benign |
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 |
|
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'- CATAACCAGTGTGGACTTTACCC -3'
(R):5'- ATGAGCATATGAACTCAGCCC -3'
Sequencing Primer
(F):5'- CCCCAAATAGTCAAGGCATTTTC -3'
(R):5'- GCATATGAACTCAGCCCATATTTTAG -3'
|
Posted On |
2016-03-01 |