Incidental Mutation 'R5936:Kcnq3'
| ID |
462288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnq3
|
| Ensembl Gene |
ENSMUSG00000056258 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 3 |
| Synonyms |
|
| MMRRC Submission |
044130-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5936 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
65858236-66158491 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65871959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 570
(D570V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070256]
|
| AlphaFold |
Q8K3F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070256
AA Change: D570V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: D570V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
85 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
122 |
364 |
9.9e-31 |
PFAM |
|
Pfam:Ion_trans_2
|
268 |
357 |
3.4e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
448 |
658 |
1.4e-89 |
PFAM |
|
Pfam:KCNQC3-Ank-G_bd
|
771 |
867 |
3.8e-41 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
91% (77/85) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,445,848 (GRCm39) |
|
probably benign |
Het |
| Acnat2 |
T |
C |
4: 49,383,362 (GRCm39) |
T64A |
probably benign |
Het |
| Afap1 |
A |
G |
5: 36,131,740 (GRCm39) |
N356D |
possibly damaging |
Het |
| Ahi1 |
A |
G |
10: 20,841,832 (GRCm39) |
D301G |
probably damaging |
Het |
| Alpk2 |
G |
A |
18: 65,483,591 (GRCm39) |
T139M |
probably damaging |
Het |
| Ankrd46 |
T |
C |
15: 36,479,428 (GRCm39) |
D221G |
probably benign |
Het |
| Ano6 |
T |
A |
15: 95,870,482 (GRCm39) |
L900H |
probably damaging |
Het |
| Asphd2 |
G |
A |
5: 112,533,623 (GRCm39) |
R343* |
probably null |
Het |
| Atosa |
T |
C |
9: 74,916,586 (GRCm39) |
L395P |
probably benign |
Het |
| Brdt |
A |
G |
5: 107,507,261 (GRCm39) |
T554A |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,893,271 (GRCm39) |
V401A |
possibly damaging |
Het |
| Cbs |
T |
C |
17: 31,844,068 (GRCm39) |
T188A |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,798,274 (GRCm39) |
T1662S |
probably benign |
Het |
| Chka |
A |
G |
19: 3,934,580 (GRCm39) |
I205V |
probably benign |
Het |
| Chsy1 |
T |
A |
7: 65,822,025 (GRCm39) |
N753K |
possibly damaging |
Het |
| Cpz |
A |
G |
5: 35,659,987 (GRCm39) |
S553P |
probably benign |
Het |
| Crtac1 |
A |
G |
19: 42,312,276 (GRCm39) |
Y146H |
probably damaging |
Het |
| Csf1r |
A |
T |
18: 61,258,880 (GRCm39) |
I700F |
probably damaging |
Het |
| Ddx20 |
C |
A |
3: 105,587,903 (GRCm39) |
E392D |
possibly damaging |
Het |
| Dhrs11 |
G |
T |
11: 84,716,350 (GRCm39) |
Y67* |
probably null |
Het |
| Diaph3 |
G |
T |
14: 87,009,552 (GRCm39) |
Q1076K |
possibly damaging |
Het |
| Dop1a |
T |
A |
9: 86,418,565 (GRCm39) |
L2037* |
probably null |
Het |
| Dst |
G |
T |
1: 34,346,539 (GRCm39) |
V5336L |
probably damaging |
Het |
| Etv1 |
C |
A |
12: 38,885,209 (GRCm39) |
H248Q |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,786,117 (GRCm39) |
V518A |
probably damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,840,908 (GRCm39) |
L139S |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,231,058 (GRCm39) |
T270S |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,964,892 (GRCm39) |
E375G |
probably damaging |
Het |
| Firrm |
T |
G |
1: 163,814,581 (GRCm39) |
I121L |
probably benign |
Het |
| Gabarapl1 |
T |
A |
6: 129,515,566 (GRCm39) |
I68N |
probably benign |
Het |
| Gopc |
C |
T |
10: 52,222,295 (GRCm39) |
V30M |
probably damaging |
Het |
| Hbp1 |
T |
C |
12: 31,987,095 (GRCm39) |
|
probably null |
Het |
| Helz2 |
A |
G |
2: 180,872,560 (GRCm39) |
V2480A |
probably damaging |
Het |
| Igfbp3 |
T |
A |
11: 7,159,472 (GRCm39) |
Y247F |
probably damaging |
Het |
| Kbtbd11 |
C |
A |
8: 15,077,534 (GRCm39) |
S44R |
probably benign |
Het |
| Kcnk10 |
G |
T |
12: 98,456,191 (GRCm39) |
S213R |
probably benign |
Het |
| Kif21a |
A |
G |
15: 90,819,850 (GRCm39) |
F1594S |
possibly damaging |
Het |
| Klf3 |
A |
G |
5: 64,980,303 (GRCm39) |
D31G |
probably damaging |
Het |
| Mapkapk3 |
T |
C |
9: 107,166,369 (GRCm39) |
K59E |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,709,039 (GRCm39) |
T484A |
probably damaging |
Het |
| Nlrp6 |
T |
A |
7: 140,502,725 (GRCm39) |
L277* |
probably null |
Het |
| Nr5a1 |
G |
T |
2: 38,591,790 (GRCm39) |
|
probably benign |
Het |
| Nsmaf |
C |
T |
4: 6,421,017 (GRCm39) |
|
probably benign |
Het |
| Or4f58 |
T |
A |
2: 111,851,932 (GRCm39) |
H89L |
probably benign |
Het |
| Orc1 |
A |
G |
4: 108,459,180 (GRCm39) |
T450A |
probably benign |
Het |
| Pacsin1 |
A |
T |
17: 27,923,971 (GRCm39) |
I122F |
probably benign |
Het |
| Pced1b |
T |
A |
15: 97,283,061 (GRCm39) |
Y367N |
possibly damaging |
Het |
| Pced1b |
T |
A |
15: 97,283,063 (GRCm39) |
Y367* |
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,312,203 (GRCm39) |
F281L |
probably damaging |
Het |
| Piwil1 |
T |
C |
5: 128,828,142 (GRCm39) |
V714A |
probably benign |
Het |
| Plcd3 |
C |
T |
11: 102,969,173 (GRCm39) |
V265M |
probably damaging |
Het |
| Ppp1r1c |
A |
T |
2: 79,586,798 (GRCm39) |
E48V |
possibly damaging |
Het |
| Prl2b1 |
T |
G |
13: 27,572,432 (GRCm39) |
T53P |
probably damaging |
Het |
| Ptch2 |
T |
G |
4: 116,965,491 (GRCm39) |
F359V |
probably benign |
Het |
| R3hdm2 |
G |
A |
10: 127,307,681 (GRCm39) |
S314N |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,813,642 (GRCm39) |
S1043C |
probably damaging |
Het |
| Rtn4rl2 |
A |
T |
2: 84,710,775 (GRCm39) |
L163Q |
probably damaging |
Het |
| Sarnp |
T |
A |
10: 128,684,640 (GRCm39) |
S129T |
probably benign |
Het |
| Scube3 |
A |
T |
17: 28,384,461 (GRCm39) |
K585M |
probably damaging |
Het |
| Sgk3 |
C |
T |
1: 9,956,045 (GRCm39) |
|
probably benign |
Het |
| Skint6 |
C |
T |
4: 112,953,790 (GRCm39) |
S458N |
probably benign |
Het |
| Slc25a54 |
A |
G |
3: 109,005,954 (GRCm39) |
H154R |
possibly damaging |
Het |
| Sorbs1 |
A |
C |
19: 40,313,216 (GRCm39) |
I690S |
probably damaging |
Het |
| Sqle |
C |
A |
15: 59,202,678 (GRCm39) |
A512D |
probably damaging |
Het |
| Tedc2 |
A |
C |
17: 24,435,315 (GRCm39) |
L358R |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,585,268 (GRCm39) |
S767G |
probably benign |
Het |
| Thoc5 |
A |
G |
11: 4,854,133 (GRCm39) |
E27G |
probably damaging |
Het |
| Trappc8 |
A |
T |
18: 21,007,745 (GRCm39) |
F123L |
probably damaging |
Het |
| Ube3d |
C |
T |
9: 86,254,512 (GRCm39) |
G323D |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,485,774 (GRCm39) |
H1642L |
probably damaging |
Het |
| Vmn1r10 |
A |
T |
6: 57,091,302 (GRCm39) |
H298L |
probably benign |
Het |
| Xpo4 |
A |
T |
14: 57,880,956 (GRCm39) |
Y26N |
probably benign |
Het |
| Zer1 |
A |
G |
2: 29,997,679 (GRCm39) |
L409P |
probably damaging |
Het |
| Zfyve28 |
A |
T |
5: 34,382,332 (GRCm39) |
L256Q |
probably damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,355,902 (GRCm39) |
E376G |
possibly damaging |
Het |
|
| Other mutations in Kcnq3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00673:Kcnq3
|
APN |
15 |
65,867,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00808:Kcnq3
|
APN |
15 |
65,867,603 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL00969:Kcnq3
|
APN |
15 |
65,876,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01121:Kcnq3
|
APN |
15 |
65,877,826 (GRCm39) |
splice site |
probably benign |
|
|
IGL01996:Kcnq3
|
APN |
15 |
65,895,545 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02153:Kcnq3
|
APN |
15 |
65,897,040 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02950:Kcnq3
|
APN |
15 |
65,892,142 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02963:Kcnq3
|
APN |
15 |
66,157,675 (GRCm39) |
splice site |
probably benign |
|
|
IGL03102:Kcnq3
|
APN |
15 |
65,900,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03050:Kcnq3
|
UTSW |
15 |
65,897,027 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0345:Kcnq3
|
UTSW |
15 |
65,892,154 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0388:Kcnq3
|
UTSW |
15 |
65,871,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0730:Kcnq3
|
UTSW |
15 |
65,867,457 (GRCm39) |
missense |
probably benign |
|
|
R1173:Kcnq3
|
UTSW |
15 |
65,871,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1610:Kcnq3
|
UTSW |
15 |
65,897,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Kcnq3
|
UTSW |
15 |
65,903,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1714:Kcnq3
|
UTSW |
15 |
65,871,912 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1755:Kcnq3
|
UTSW |
15 |
65,867,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Kcnq3
|
UTSW |
15 |
65,877,755 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1873:Kcnq3
|
UTSW |
15 |
65,874,104 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1925:Kcnq3
|
UTSW |
15 |
65,876,658 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1970:Kcnq3
|
UTSW |
15 |
65,900,472 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2140:Kcnq3
|
UTSW |
15 |
65,877,827 (GRCm39) |
splice site |
probably benign |
|
|
R2141:Kcnq3
|
UTSW |
15 |
65,867,700 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2149:Kcnq3
|
UTSW |
15 |
65,895,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2212:Kcnq3
|
UTSW |
15 |
65,892,142 (GRCm39) |
missense |
probably benign |
|
|
R2272:Kcnq3
|
UTSW |
15 |
65,900,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2566:Kcnq3
|
UTSW |
15 |
65,903,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2909:Kcnq3
|
UTSW |
15 |
65,897,085 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3703:Kcnq3
|
UTSW |
15 |
65,893,588 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3704:Kcnq3
|
UTSW |
15 |
65,893,588 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3899:Kcnq3
|
UTSW |
15 |
65,902,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4096:Kcnq3
|
UTSW |
15 |
66,157,664 (GRCm39) |
splice site |
probably null |
|
|
R4421:Kcnq3
|
UTSW |
15 |
65,867,360 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4504:Kcnq3
|
UTSW |
15 |
65,867,191 (GRCm39) |
nonsense |
probably null |
|
|
R4505:Kcnq3
|
UTSW |
15 |
65,867,191 (GRCm39) |
nonsense |
probably null |
|
|
R4571:Kcnq3
|
UTSW |
15 |
65,902,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Kcnq3
|
UTSW |
15 |
66,158,063 (GRCm39) |
missense |
unknown |
|
|
R4900:Kcnq3
|
UTSW |
15 |
65,867,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Kcnq3
|
UTSW |
15 |
65,903,254 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5015:Kcnq3
|
UTSW |
15 |
65,876,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5049:Kcnq3
|
UTSW |
15 |
66,157,746 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5245:Kcnq3
|
UTSW |
15 |
65,903,284 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5334:Kcnq3
|
UTSW |
15 |
65,897,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5528:Kcnq3
|
UTSW |
15 |
65,897,027 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5532:Kcnq3
|
UTSW |
15 |
65,869,622 (GRCm39) |
nonsense |
probably null |
|
|
R5630:Kcnq3
|
UTSW |
15 |
65,896,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5639:Kcnq3
|
UTSW |
15 |
65,869,599 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6306:Kcnq3
|
UTSW |
15 |
65,876,643 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6576:Kcnq3
|
UTSW |
15 |
65,897,027 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7006:Kcnq3
|
UTSW |
15 |
65,892,165 (GRCm39) |
nonsense |
probably null |
|
|
R7403:Kcnq3
|
UTSW |
15 |
65,874,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8140:Kcnq3
|
UTSW |
15 |
65,867,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9189:Kcnq3
|
UTSW |
15 |
65,867,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF045:Kcnq3
|
UTSW |
15 |
66,158,033 (GRCm39) |
small deletion |
probably benign |
|
|
X0060:Kcnq3
|
UTSW |
15 |
65,903,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnq3
|
UTSW |
15 |
65,867,301 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACCTGCCTTCCAAGTCTC -3'
(R):5'- TATCATGCATGGCAATATCTCTCC -3'
Sequencing Primer
(F):5'- GAGGGTTGATTTCACATAAAGTACTC -3'
(R):5'- ATGCATGGCAATATCTCTCCTTTTAC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation