Incidental Mutation 'R4504:Kcnc2'
| ID |
331936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnc2
|
| Ensembl Gene |
ENSMUSG00000035681 |
| Gene Name |
potassium voltage gated channel, Shaw-related subfamily, member 2 |
| Synonyms |
Kv3.2, KShIIIA |
| MMRRC Submission |
041755-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4504 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
112107026-112302929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112291699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 296
(W296R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092175]
[ENSMUST00000218445]
[ENSMUST00000218827]
[ENSMUST00000219301]
[ENSMUST00000219607]
|
| AlphaFold |
Q14B80 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092175
AA Change: W296R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089814
Gene: ENSMUSG00000035681
AA Change: W296R
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
8 |
163 |
2.53e-17 |
SMART |
|
Pfam:Ion_trans
|
232 |
488 |
1e-46 |
PFAM |
|
Pfam:Ion_trans_2
|
388 |
481 |
5.8e-13 |
PFAM |
|
low complexity region
|
552 |
568 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218445
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218827
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219301
AA Change: W296R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219607
|
| Meta Mutation Damage Score |
0.9080 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired fast spiking in cortical interneurons, distorted cortical rhythmic activity, enhanced susceptibility to seizures, increased anxiety in the open field, and abnormal sleep patterns. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
A |
G |
14: 44,407,899 (GRCm39) |
S45P |
probably damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,961,802 (GRCm39) |
R1124C |
possibly damaging |
Het |
| Anxa13 |
T |
C |
15: 58,228,052 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgap32 |
C |
A |
9: 32,093,135 (GRCm39) |
|
probably null |
Het |
| Carm1 |
T |
C |
9: 21,480,822 (GRCm39) |
F99L |
probably damaging |
Het |
| Dennd1b |
A |
G |
1: 139,013,665 (GRCm39) |
E253G |
possibly damaging |
Het |
| Dsg4 |
A |
G |
18: 20,594,493 (GRCm39) |
I541V |
probably benign |
Het |
| Dstyk |
A |
G |
1: 132,362,127 (GRCm39) |
T186A |
possibly damaging |
Het |
| Ear1 |
A |
T |
14: 44,056,721 (GRCm39) |
V49D |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Fndc8 |
T |
A |
11: 82,783,226 (GRCm39) |
M69K |
probably benign |
Het |
| Golga1 |
T |
C |
2: 38,913,466 (GRCm39) |
I482V |
probably benign |
Het |
| Hivep3 |
G |
A |
4: 119,590,990 (GRCm39) |
|
probably benign |
Het |
| Igkv13-85 |
A |
G |
6: 68,907,356 (GRCm39) |
F82L |
probably damaging |
Het |
| Itih1 |
G |
A |
14: 30,657,842 (GRCm39) |
R410C |
probably damaging |
Het |
| Kcnq3 |
A |
T |
15: 65,867,191 (GRCm39) |
Y817* |
probably null |
Het |
| Kif3b |
T |
C |
2: 153,165,564 (GRCm39) |
|
probably null |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,189 (GRCm39) |
V1022A |
probably benign |
Het |
| Npc1l1 |
A |
G |
11: 6,178,741 (GRCm39) |
L223S |
possibly damaging |
Het |
| Or11m3 |
T |
C |
15: 98,396,015 (GRCm39) |
F221L |
probably benign |
Het |
| Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
| Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,353,690 (GRCm39) |
D281G |
possibly damaging |
Het |
| Pcdhga8 |
G |
C |
18: 37,949,816 (GRCm39) |
V411L |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,429,319 (GRCm39) |
C1553Y |
probably damaging |
Het |
| Pdgfc |
A |
C |
3: 81,082,298 (GRCm39) |
M164L |
probably benign |
Het |
| Pdzd8 |
T |
C |
19: 59,333,880 (GRCm39) |
Y47C |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,150,945 (GRCm39) |
I633N |
probably damaging |
Het |
| Pkn1 |
G |
A |
8: 84,419,556 (GRCm39) |
R16* |
probably null |
Het |
| Pole2 |
A |
G |
12: 69,269,242 (GRCm39) |
V85A |
probably benign |
Het |
| Ppp4c |
A |
C |
7: 126,386,637 (GRCm39) |
L150R |
probably damaging |
Het |
| Pramel25 |
G |
C |
4: 143,520,553 (GRCm39) |
E102Q |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Rnf144a |
T |
A |
12: 26,377,302 (GRCm39) |
R92S |
probably benign |
Het |
| Sbno2 |
C |
A |
10: 79,896,326 (GRCm39) |
R898L |
possibly damaging |
Het |
| Scnn1b |
A |
C |
7: 121,511,698 (GRCm39) |
N370T |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,672,866 (GRCm39) |
E1302G |
possibly damaging |
Het |
|
| Other mutations in Kcnc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Kcnc2
|
APN |
10 |
112,297,892 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00595:Kcnc2
|
APN |
10 |
112,297,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01646:Kcnc2
|
APN |
10 |
112,108,311 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01950:Kcnc2
|
APN |
10 |
112,297,980 (GRCm39) |
intron |
probably benign |
|
|
IGL02036:Kcnc2
|
APN |
10 |
112,291,831 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02164:Kcnc2
|
APN |
10 |
112,291,590 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02447:Kcnc2
|
APN |
10 |
112,291,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03087:Kcnc2
|
APN |
10 |
112,291,652 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03385:Kcnc2
|
APN |
10 |
112,291,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Kcnc2
|
UTSW |
10 |
112,294,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1444:Kcnc2
|
UTSW |
10 |
112,291,506 (GRCm39) |
unclassified |
probably benign |
|
|
R1474:Kcnc2
|
UTSW |
10 |
112,292,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2221:Kcnc2
|
UTSW |
10 |
112,292,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Kcnc2
|
UTSW |
10 |
112,291,733 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4935:Kcnc2
|
UTSW |
10 |
112,108,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6168:Kcnc2
|
UTSW |
10 |
112,291,661 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6338:Kcnc2
|
UTSW |
10 |
112,107,761 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6375:Kcnc2
|
UTSW |
10 |
112,299,094 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6511:Kcnc2
|
UTSW |
10 |
112,297,972 (GRCm39) |
intron |
probably benign |
|
|
R6516:Kcnc2
|
UTSW |
10 |
112,297,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6556:Kcnc2
|
UTSW |
10 |
112,107,761 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6609:Kcnc2
|
UTSW |
10 |
112,107,761 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6610:Kcnc2
|
UTSW |
10 |
112,107,761 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6612:Kcnc2
|
UTSW |
10 |
112,107,761 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6837:Kcnc2
|
UTSW |
10 |
112,294,407 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7151:Kcnc2
|
UTSW |
10 |
112,294,414 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7715:Kcnc2
|
UTSW |
10 |
112,107,845 (GRCm39) |
nonsense |
probably null |
|
|
R8506:Kcnc2
|
UTSW |
10 |
112,291,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Kcnc2
|
UTSW |
10 |
112,292,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Kcnc2
|
UTSW |
10 |
112,292,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9013:Kcnc2
|
UTSW |
10 |
112,107,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnc2
|
UTSW |
10 |
112,108,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACGAGATGATTCAGGTCACTC -3'
(R):5'- CTGAGAAAGCCGAGCACATC -3'
Sequencing Primer
(F):5'- AGATGATTCAGGTCACTCTGTGTTTC -3'
(R):5'- AAGCCGAGCACATCTTTGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation