Incidental Mutation 'R1755:Kcnq3'
ID |
194801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnq3
|
Ensembl Gene |
ENSMUSG00000056258 |
Gene Name |
potassium voltage-gated channel, subfamily Q, member 3 |
Synonyms |
|
MMRRC Submission |
039787-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R1755 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
65858236-66158491 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65867270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 791
(L791Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070256]
|
AlphaFold |
Q8K3F6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070256
AA Change: L791Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063380 Gene: ENSMUSG00000056258 AA Change: L791Q
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: 97.5%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
Validation Efficiency |
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402J07Rik |
G |
A |
8: 88,315,585 (GRCm39) |
R225H |
possibly damaging |
Het |
9330159F19Rik |
A |
T |
10: 29,098,290 (GRCm39) |
H199L |
possibly damaging |
Het |
Acaca |
AC |
A |
11: 84,167,390 (GRCm39) |
|
probably null |
Het |
Adam23 |
G |
A |
1: 63,582,329 (GRCm39) |
V326M |
probably damaging |
Het |
Aldh1a2 |
T |
A |
9: 71,169,023 (GRCm39) |
Y168* |
probably null |
Het |
Ano6 |
A |
G |
15: 95,870,451 (GRCm39) |
K869E |
possibly damaging |
Het |
Aplp2 |
G |
A |
9: 31,088,400 (GRCm39) |
A106V |
probably damaging |
Het |
Arhgdib |
T |
A |
6: 136,906,612 (GRCm39) |
K30* |
probably null |
Het |
Arl11 |
A |
G |
14: 61,548,393 (GRCm39) |
T68A |
probably benign |
Het |
Atg7 |
A |
G |
6: 114,650,638 (GRCm39) |
T83A |
possibly damaging |
Het |
Card9 |
T |
C |
2: 26,249,546 (GRCm39) |
E5G |
probably damaging |
Het |
Cars1 |
A |
G |
7: 143,123,194 (GRCm39) |
V474A |
probably damaging |
Het |
Cd300ld2 |
A |
G |
11: 114,904,601 (GRCm39) |
F89L |
probably benign |
Het |
Celf2 |
T |
A |
2: 6,889,769 (GRCm39) |
M1L |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,451,205 (GRCm39) |
D2174G |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cox6b2 |
A |
G |
7: 4,754,937 (GRCm39) |
F74S |
probably damaging |
Het |
Cyp11b1 |
T |
A |
15: 74,710,383 (GRCm39) |
Q306L |
probably benign |
Het |
Ddx3y |
A |
G |
Y: 1,279,543 (GRCm39) |
I107T |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,326,782 (GRCm39) |
Y1997F |
probably damaging |
Het |
Dync2i1 |
A |
G |
12: 116,189,649 (GRCm39) |
L620P |
probably damaging |
Het |
Epha4 |
A |
T |
1: 77,364,460 (GRCm39) |
I683N |
probably damaging |
Het |
Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
Gmip |
A |
G |
8: 70,266,774 (GRCm39) |
I296M |
probably damaging |
Het |
Gpr37l1 |
A |
G |
1: 135,094,639 (GRCm39) |
S202P |
probably damaging |
Het |
Ifi208 |
C |
A |
1: 173,505,476 (GRCm39) |
D75E |
possibly damaging |
Het |
Il24 |
T |
C |
1: 130,811,680 (GRCm39) |
N132S |
possibly damaging |
Het |
Katnal2 |
A |
G |
18: 77,099,763 (GRCm39) |
C124R |
probably benign |
Het |
Kcns3 |
T |
A |
12: 11,141,445 (GRCm39) |
D418V |
probably benign |
Het |
Kif13a |
A |
G |
13: 46,906,089 (GRCm39) |
V618A |
possibly damaging |
Het |
Kif13a |
A |
T |
13: 46,927,154 (GRCm39) |
V1179E |
possibly damaging |
Het |
Lpp |
A |
G |
16: 24,663,874 (GRCm39) |
I259V |
probably benign |
Het |
Mapkapk2 |
A |
G |
1: 130,986,087 (GRCm39) |
|
probably null |
Het |
Marchf7 |
T |
C |
2: 60,065,265 (GRCm39) |
S514P |
probably benign |
Het |
Nr4a2 |
T |
A |
2: 56,999,104 (GRCm39) |
L381F |
probably damaging |
Het |
Nt5dc3 |
A |
G |
10: 86,660,115 (GRCm39) |
D328G |
probably damaging |
Het |
Obox6 |
T |
C |
7: 15,568,445 (GRCm39) |
K144E |
probably damaging |
Het |
Oga |
A |
T |
19: 45,746,845 (GRCm39) |
M735K |
possibly damaging |
Het |
Olfml2b |
G |
A |
1: 170,509,346 (GRCm39) |
V565M |
probably damaging |
Het |
Or1d2 |
T |
C |
11: 74,255,819 (GRCm39) |
V108A |
probably damaging |
Het |
Orc3 |
G |
A |
4: 34,575,114 (GRCm39) |
A590V |
possibly damaging |
Het |
Picalm |
T |
C |
7: 89,809,757 (GRCm39) |
S78P |
possibly damaging |
Het |
Por |
T |
A |
5: 135,758,339 (GRCm39) |
Y105* |
probably null |
Het |
Ppara |
A |
G |
15: 85,682,180 (GRCm39) |
K292R |
probably benign |
Het |
Pramel27 |
T |
C |
4: 143,577,380 (GRCm39) |
F3S |
probably damaging |
Het |
Prss59 |
T |
G |
6: 40,903,096 (GRCm39) |
Y92S |
probably damaging |
Het |
Ralgds |
T |
A |
2: 28,440,558 (GRCm39) |
I844N |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,027,441 (GRCm39) |
Y519H |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,332,060 (GRCm39) |
V1261A |
probably benign |
Het |
Slc2a2 |
T |
A |
3: 28,767,811 (GRCm39) |
|
probably null |
Het |
Slc5a7 |
T |
C |
17: 54,600,006 (GRCm39) |
M136V |
probably benign |
Het |
Smc4 |
C |
A |
3: 68,941,441 (GRCm39) |
A1232E |
probably damaging |
Het |
Smg1 |
A |
T |
7: 117,802,287 (GRCm39) |
C270* |
probably null |
Het |
Sparcl1 |
C |
T |
5: 104,240,690 (GRCm39) |
E245K |
probably benign |
Het |
Taf2 |
T |
C |
15: 54,879,850 (GRCm39) |
H1162R |
probably damaging |
Het |
Tlr3 |
T |
C |
8: 45,851,010 (GRCm39) |
D105G |
probably benign |
Het |
Tmem62 |
T |
C |
2: 120,814,958 (GRCm39) |
|
probably null |
Het |
Triobp |
G |
A |
15: 78,850,679 (GRCm39) |
A278T |
probably benign |
Het |
Ufd1 |
T |
G |
16: 18,642,003 (GRCm39) |
C151W |
probably damaging |
Het |
Upk1b |
T |
G |
16: 38,600,402 (GRCm39) |
M193L |
probably benign |
Het |
Usp15 |
A |
G |
10: 122,968,949 (GRCm39) |
M334T |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,645,631 (GRCm39) |
S541P |
probably benign |
Het |
Vmn1r61 |
A |
T |
7: 5,614,302 (GRCm39) |
L4* |
probably null |
Het |
Vmn2r96 |
G |
A |
17: 18,802,915 (GRCm39) |
G83D |
possibly damaging |
Het |
Zbtb8a |
T |
C |
4: 129,248,110 (GRCm39) |
D387G |
possibly damaging |
Het |
Zfp106 |
A |
T |
2: 120,365,656 (GRCm39) |
N250K |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,811,043 (GRCm39) |
V667A |
probably benign |
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 |
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 |
R5936:Kcnq3
|
UTSW |
15 |
65,871,959 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CAGTGGATGACATAGGCATGGAACC -3'
(R):5'- CATGATCCTGTGAAACTGACCCGAG -3'
Sequencing Primer
(F):5'- CATGGAACCACTGGGTGTG -3'
(R):5'- GGGACCCAGTTCTACAAAGGC -3'
|
Posted On |
2014-05-23 |