Incidental Mutation 'IGL02121:Kcnn2'
| ID |
280599 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
IGL02121
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
45401927-45819091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45694340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 175
(I175T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066890]
[ENSMUST00000169783]
[ENSMUST00000183850]
[ENSMUST00000211323]
|
| AlphaFold |
P58390 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066890
AA Change: I440T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: I440T
| 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
AA Change: I175T
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129659
Gene: ENSMUSG00000054477
AA Change: I175T
| 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: I175T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139350
Gene: ENSMUSG00000054477
AA Change: I175T
| 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 damaging
Transcript: ENSMUST00000211323
AA Change: I175T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
|
| 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 |
|---|
| 1700029F12Rik |
A |
T |
13: 97,159,038 (GRCm39) |
V122D |
unknown |
Het |
| 4930579F01Rik |
T |
G |
3: 137,870,134 (GRCm39) |
Y199S |
possibly damaging |
Het |
| Abca6 |
T |
A |
11: 110,073,750 (GRCm39) |
I1434F |
probably benign |
Het |
| Acsm1 |
T |
C |
7: 119,257,635 (GRCm39) |
V467A |
possibly damaging |
Het |
| Alg3 |
T |
C |
16: 20,425,285 (GRCm39) |
T260A |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,254 (GRCm39) |
|
probably null |
Het |
| Ap5b1 |
C |
T |
19: 5,620,815 (GRCm39) |
T745I |
possibly damaging |
Het |
| Atp6v1c2 |
T |
G |
12: 17,341,441 (GRCm39) |
K272Q |
possibly damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cert1 |
T |
G |
13: 96,735,982 (GRCm39) |
Y181D |
probably benign |
Het |
| Clcn7 |
C |
T |
17: 25,372,058 (GRCm39) |
A426V |
possibly damaging |
Het |
| Clec14a |
T |
C |
12: 58,315,223 (GRCm39) |
E133G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,267,738 (GRCm39) |
V2720E |
probably damaging |
Het |
| Efr3a |
C |
T |
15: 65,742,999 (GRCm39) |
|
probably benign |
Het |
| Fam83g |
T |
C |
11: 61,575,609 (GRCm39) |
S84P |
probably benign |
Het |
| Gm7251 |
T |
C |
13: 49,959,382 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptab |
T |
G |
10: 88,265,323 (GRCm39) |
S312A |
possibly damaging |
Het |
| Grap2 |
C |
A |
15: 80,532,076 (GRCm39) |
S230R |
possibly damaging |
Het |
| Grm6 |
T |
A |
11: 50,750,483 (GRCm39) |
C549S |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,245,903 (GRCm39) |
L1504* |
probably null |
Het |
| Iars1 |
A |
G |
13: 49,878,172 (GRCm39) |
M899V |
probably benign |
Het |
| Il1rl1 |
T |
A |
1: 40,481,463 (GRCm39) |
|
probably benign |
Het |
| Kcna4 |
T |
C |
2: 107,126,963 (GRCm39) |
Y566H |
possibly damaging |
Het |
| Kcnt1 |
C |
T |
2: 25,791,877 (GRCm39) |
T609I |
probably damaging |
Het |
| Kif3b |
A |
G |
2: 153,159,194 (GRCm39) |
R332G |
probably damaging |
Het |
| Mansc1 |
T |
C |
6: 134,598,800 (GRCm39) |
D39G |
probably damaging |
Het |
| Med12 |
T |
C |
X: 100,331,948 (GRCm39) |
|
probably benign |
Het |
| Mmp1b |
G |
T |
9: 7,384,935 (GRCm39) |
T238K |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,594,897 (GRCm39) |
S1435P |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,178,157 (GRCm39) |
S418P |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,832 (GRCm39) |
V314A |
probably benign |
Het |
| Or2ab1 |
T |
C |
11: 58,488,408 (GRCm39) |
V62A |
possibly damaging |
Het |
| Or3a1b |
A |
G |
11: 74,012,113 (GRCm39) |
|
probably benign |
Het |
| Or52a24 |
A |
G |
7: 103,381,676 (GRCm39) |
Y181C |
probably damaging |
Het |
| Or52h1 |
A |
C |
7: 103,829,432 (GRCm39) |
M61R |
probably damaging |
Het |
| Or6ae1 |
G |
T |
7: 139,742,607 (GRCm39) |
D85E |
probably benign |
Het |
| Or8b3b |
T |
C |
9: 38,584,711 (GRCm39) |
T23A |
probably damaging |
Het |
| Otoa |
A |
G |
7: 120,721,247 (GRCm39) |
T421A |
probably benign |
Het |
| Otulin |
G |
A |
15: 27,608,823 (GRCm39) |
A42V |
probably damaging |
Het |
| Pcdhb1 |
T |
A |
18: 37,398,838 (GRCm39) |
V263E |
probably benign |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,775,423 (GRCm39) |
V1053D |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,794,901 (GRCm39) |
R2196H |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,409,131 (GRCm39) |
Q1363L |
probably damaging |
Het |
| Pp2d1 |
C |
A |
17: 53,814,949 (GRCm39) |
V592L |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,145,242 (GRCm39) |
D28G |
possibly damaging |
Het |
| Prkdc |
T |
G |
16: 15,535,048 (GRCm39) |
M1649R |
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,450,931 (GRCm39) |
K12E |
probably benign |
Het |
| Rars2 |
G |
A |
4: 34,657,219 (GRCm39) |
V522I |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,384,831 (GRCm39) |
N646K |
possibly damaging |
Het |
| Sars2 |
A |
G |
7: 28,451,950 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,384,316 (GRCm39) |
T227A |
possibly damaging |
Het |
| Smc1b |
T |
C |
15: 84,982,186 (GRCm39) |
T703A |
probably benign |
Het |
| Stk32a |
G |
T |
18: 43,446,572 (GRCm39) |
D341Y |
probably benign |
Het |
| Thap11 |
T |
C |
8: 106,582,546 (GRCm39) |
V185A |
possibly damaging |
Het |
| Ttll10 |
C |
A |
4: 156,132,890 (GRCm39) |
V65F |
probably benign |
Het |
| Ube2q1 |
T |
A |
3: 89,687,769 (GRCm39) |
N111K |
possibly damaging |
Het |
| Upf2 |
C |
A |
2: 6,031,134 (GRCm39) |
|
probably benign |
Het |
| Utp25 |
A |
T |
1: 192,800,586 (GRCm39) |
D411E |
probably benign |
Het |
| Vasp |
T |
A |
7: 18,991,637 (GRCm39) |
|
probably benign |
Het |
| Vmn2r104 |
C |
T |
17: 20,262,056 (GRCm39) |
W358* |
probably null |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,046,376 (GRCm39) |
G1826R |
possibly damaging |
Het |
| Wdr7 |
T |
A |
18: 63,910,616 (GRCm39) |
Y669* |
probably null |
Het |
| Wdr72 |
T |
A |
9: 74,189,011 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation