Incidental Mutation 'R5334:Kcnq3'
| ID |
423437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnq3
|
| Ensembl Gene |
ENSMUSG00000056258 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R5334 (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 G
at 65897073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 276
(S276P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070256]
|
| AlphaFold |
Q8K3F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070256
AA Change: S276P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: S276P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183354
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Ap4s1 |
C |
T |
12: 51,785,454 (GRCm39) |
S142L |
probably benign |
Het |
| Apol11a |
A |
G |
15: 77,400,953 (GRCm39) |
T147A |
probably benign |
Het |
| Aqp9 |
T |
C |
9: 71,030,292 (GRCm39) |
|
probably null |
Het |
| Arhgap25 |
T |
A |
6: 87,440,243 (GRCm39) |
N468I |
possibly damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,553,636 (GRCm39) |
S924R |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,840,146 (GRCm39) |
L144Q |
probably damaging |
Het |
| Ccbe1 |
T |
C |
18: 66,216,316 (GRCm39) |
I136V |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,167,280 (GRCm39) |
P1119Q |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,865,989 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,542,805 (GRCm39) |
I2455T |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,178,643 (GRCm39) |
T1795A |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,914,538 (GRCm39) |
E541V |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,825,793 (GRCm39) |
|
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,455,465 (GRCm39) |
V573A |
probably damaging |
Het |
| Fech |
A |
C |
18: 64,597,191 (GRCm39) |
V256G |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gal3st4 |
T |
G |
5: 138,263,983 (GRCm39) |
K339Q |
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,832,316 (GRCm39) |
S1139T |
probably benign |
Het |
| Gpr180 |
A |
T |
14: 118,397,468 (GRCm39) |
S321C |
probably damaging |
Het |
| Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
| Grin2c |
T |
G |
11: 115,146,881 (GRCm39) |
N438T |
possibly damaging |
Het |
| Hcn2 |
T |
C |
10: 79,562,125 (GRCm39) |
S374P |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,631,123 (GRCm39) |
I892F |
probably damaging |
Het |
| Ifi207 |
C |
T |
1: 173,555,097 (GRCm39) |
V869I |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,788,458 (GRCm39) |
Y390H |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnj15 |
A |
G |
16: 95,097,508 (GRCm39) |
K377E |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,968 (GRCm39) |
D280G |
probably damaging |
Het |
| Lmnb2 |
C |
T |
10: 80,739,791 (GRCm39) |
V376I |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,504,699 (GRCm39) |
Q2423R |
probably benign |
Het |
| Mepce |
T |
A |
5: 137,784,889 (GRCm39) |
R29S |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,292,535 (GRCm39) |
|
probably null |
Het |
| Mlip |
T |
A |
9: 77,150,958 (GRCm39) |
T33S |
probably damaging |
Het |
| Msantd5f6 |
T |
A |
4: 73,321,754 (GRCm39) |
M94L |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Ncapg2 |
T |
C |
12: 116,390,257 (GRCm39) |
I402T |
probably damaging |
Het |
| Or2aj6 |
C |
G |
16: 19,443,241 (GRCm39) |
G203A |
probably benign |
Het |
| Or5m13b |
T |
C |
2: 85,754,058 (GRCm39) |
Y149H |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,439,215 (GRCm39) |
D1301G |
probably benign |
Het |
| Pilrb1 |
T |
C |
5: 137,853,165 (GRCm39) |
M213V |
probably benign |
Het |
| Plxdc1 |
T |
C |
11: 97,846,931 (GRCm39) |
T163A |
possibly damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,039,406 (GRCm39) |
L373P |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,402,665 (GRCm39) |
Y52H |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,129,548 (GRCm39) |
C294R |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,059,809 (GRCm39) |
D903G |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,003,034 (GRCm39) |
F228S |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,087,364 (GRCm39) |
E1025G |
possibly damaging |
Het |
| Sult1c2 |
T |
G |
17: 54,271,758 (GRCm39) |
D143A |
probably damaging |
Het |
| Taar1 |
T |
G |
10: 23,796,443 (GRCm39) |
I47R |
probably damaging |
Het |
| Tctn3 |
G |
T |
19: 40,591,266 (GRCm39) |
Q514K |
probably benign |
Het |
| Tg |
T |
C |
15: 66,549,904 (GRCm39) |
F222S |
probably damaging |
Het |
| Tmem236 |
C |
A |
2: 14,223,871 (GRCm39) |
T220K |
possibly damaging |
Het |
| Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
| Vmn1r237 |
T |
C |
17: 21,534,942 (GRCm39) |
F222L |
probably benign |
Het |
| Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
| Zfp85 |
T |
C |
13: 67,899,803 (GRCm39) |
Y52C |
probably 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 |
|
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'- TGCAGAATGAAGTTGACCCG -3'
(R):5'- CACCGTTTTCCATGGATAGGAG -3'
Sequencing Primer
(F):5'- AAGTTGACCCGAGTGTGC -3'
(R):5'- TTCCATGGATAGGAGGTGAGACTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation