Incidental Mutation 'R4927:Kcnn2'
| ID |
380943 |
| 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 |
042528-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R4927 (G1)
|
| Quality Score |
100 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
45401927-45819091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45692798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 125
(C125R)
|
| 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: C125R
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: C125R
| 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 |
0.0633 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
97% (76/78) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Adamts2 |
T |
A |
11: 50,694,639 (GRCm39) |
L1142* |
probably null |
Het |
| Arl13b |
C |
A |
16: 62,622,150 (GRCm39) |
G381V |
probably damaging |
Het |
| Ash1l |
G |
T |
3: 88,892,641 (GRCm39) |
V1507F |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,859,408 (GRCm39) |
F38I |
probably benign |
Het |
| Bend4 |
T |
C |
5: 67,557,619 (GRCm39) |
Y399C |
probably damaging |
Het |
| Btn1a1 |
A |
T |
13: 23,644,794 (GRCm39) |
|
probably null |
Het |
| Cacna1g |
A |
T |
11: 94,319,973 (GRCm39) |
L1401Q |
probably damaging |
Het |
| Ccdc192 |
C |
T |
18: 57,863,888 (GRCm39) |
Q213* |
probably null |
Het |
| Cep192 |
T |
C |
18: 67,968,195 (GRCm39) |
V893A |
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,447,012 (GRCm39) |
Y355N |
probably damaging |
Het |
| Col6a5 |
G |
C |
9: 105,811,163 (GRCm39) |
S785R |
unknown |
Het |
| Cpa3 |
A |
G |
3: 20,276,303 (GRCm39) |
L310P |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,015,152 (GRCm39) |
I247T |
probably benign |
Het |
| Dab1 |
A |
G |
4: 104,561,449 (GRCm39) |
T245A |
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,579,985 (GRCm39) |
D315V |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,583,762 (GRCm39) |
L599* |
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,629,289 (GRCm39) |
I4231T |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,476,000 (GRCm39) |
V1659A |
probably damaging |
Het |
| Flot2 |
G |
A |
11: 77,949,888 (GRCm39) |
V406M |
probably damaging |
Het |
| Galnt2 |
A |
G |
8: 125,032,362 (GRCm39) |
D75G |
probably damaging |
Het |
| Gcnt3 |
A |
T |
9: 69,942,464 (GRCm39) |
C35S |
probably damaging |
Het |
| Gp2 |
A |
G |
7: 119,052,118 (GRCm39) |
F199L |
probably benign |
Het |
| Gramd2b |
C |
T |
18: 56,618,523 (GRCm39) |
P244S |
probably damaging |
Het |
| Hhipl1 |
T |
C |
12: 108,278,203 (GRCm39) |
L177P |
probably damaging |
Het |
| Homez |
T |
C |
14: 55,095,264 (GRCm39) |
E148G |
possibly damaging |
Het |
| Kcnab3 |
G |
A |
11: 69,217,572 (GRCm39) |
C22Y |
possibly damaging |
Het |
| Kcnh8 |
C |
A |
17: 53,185,009 (GRCm39) |
S430R |
probably damaging |
Het |
| Klhl7 |
G |
A |
5: 24,346,185 (GRCm39) |
R277Q |
possibly damaging |
Het |
| Krt78 |
A |
G |
15: 101,855,334 (GRCm39) |
S826P |
probably benign |
Het |
| Krtap14 |
T |
C |
16: 88,622,919 (GRCm39) |
Y20C |
possibly damaging |
Het |
| Lrcol1 |
A |
G |
5: 110,502,163 (GRCm39) |
|
probably null |
Het |
| Lrrc10b |
G |
A |
19: 10,434,226 (GRCm39) |
P152S |
probably damaging |
Het |
| Lrrn3 |
C |
G |
12: 41,503,124 (GRCm39) |
D398H |
probably damaging |
Het |
| Map3k19 |
T |
C |
1: 127,749,932 (GRCm39) |
I1140V |
probably benign |
Het |
| Mos |
G |
A |
4: 3,871,093 (GRCm39) |
T241M |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,807,901 (GRCm39) |
E39G |
possibly damaging |
Het |
| Olfm1 |
T |
G |
2: 28,104,798 (GRCm39) |
S212A |
probably benign |
Het |
| Or2ak6 |
T |
A |
11: 58,592,633 (GRCm39) |
F35L |
probably damaging |
Het |
| Pip4p2 |
G |
T |
4: 14,912,458 (GRCm39) |
R189L |
probably damaging |
Het |
| Plec |
G |
T |
15: 76,061,162 (GRCm39) |
T2947K |
probably damaging |
Het |
| Pramel27 |
A |
T |
4: 143,578,187 (GRCm39) |
Q149L |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,823,350 (GRCm39) |
M474V |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,719,408 (GRCm39) |
Y4333C |
unknown |
Het |
| Scrn2 |
G |
C |
11: 96,924,326 (GRCm39) |
|
probably null |
Het |
| Slc22a12 |
C |
A |
19: 6,587,791 (GRCm39) |
V388L |
probably benign |
Het |
| Slc4a11 |
A |
G |
2: 130,526,866 (GRCm39) |
V754A |
probably damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,335,195 (GRCm39) |
F195S |
probably damaging |
Het |
| Slfn9 |
A |
C |
11: 82,872,216 (GRCm39) |
M840R |
possibly damaging |
Het |
| Speer4b |
T |
C |
5: 27,706,263 (GRCm39) |
N35D |
probably damaging |
Het |
| Taf1d |
T |
A |
9: 15,221,250 (GRCm39) |
D185E |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,475,213 (GRCm39) |
L245P |
probably damaging |
Het |
| Tent4a |
A |
T |
13: 69,651,019 (GRCm39) |
|
probably null |
Het |
| Ticam2 |
T |
C |
18: 46,693,846 (GRCm39) |
I80M |
probably damaging |
Het |
| Tmem268 |
G |
A |
4: 63,502,164 (GRCm39) |
V331I |
probably benign |
Het |
| Tsga10 |
T |
C |
1: 37,840,931 (GRCm39) |
E425G |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,654,133 (GRCm39) |
|
probably null |
Het |
| Ttf1 |
C |
T |
2: 28,954,668 (GRCm39) |
H11Y |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,107,489 (GRCm39) |
H601R |
probably damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,880,661 (GRCm39) |
M1L |
probably benign |
Het |
| Vmn2r120 |
G |
T |
17: 57,816,125 (GRCm39) |
N743K |
probably damaging |
Het |
| Wnt6 |
C |
A |
1: 74,823,295 (GRCm39) |
|
probably null |
Het |
| Wnt6 |
A |
C |
1: 74,823,296 (GRCm39) |
|
probably null |
Het |
| Wnt8a |
T |
A |
18: 34,680,525 (GRCm39) |
C297S |
probably damaging |
Het |
| Zfp786 |
T |
C |
6: 47,797,087 (GRCm39) |
Q617R |
probably benign |
Het |
| Zfp91 |
A |
G |
19: 12,753,774 (GRCm39) |
|
probably null |
Het |
| Zw10 |
T |
A |
9: 48,979,983 (GRCm39) |
F371L |
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 |
|
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'- AAACCCCATTGCAGTTCCAG -3'
(R):5'- GCTCATGGCTATTTCGGTGAAG -3'
Sequencing Primer
(F):5'- ATTGCAGTTCCAGCGCGG -3'
(R):5'- CTCACATTGAGCTGGCTGC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation