Incidental Mutation 'R5528:Kcnq3'
| ID |
433547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnq3
|
| Ensembl Gene |
ENSMUSG00000056258 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 3 |
| Synonyms |
|
| MMRRC Submission |
043086-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5528 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
65858236-66158491 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65897027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 291
(D291V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070256]
|
| AlphaFold |
Q8K3F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070256
AA Change: D291V
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: D291V
| 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: 98.6%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,772,260 (GRCm39) |
L483P |
probably benign |
Het |
| 4930519G04Rik |
T |
G |
5: 115,012,415 (GRCm39) |
|
probably null |
Het |
| Ablim2 |
C |
T |
5: 36,013,510 (GRCm39) |
Q148* |
probably null |
Het |
| Ap3s2 |
A |
T |
7: 79,530,234 (GRCm39) |
*194R |
probably null |
Het |
| Arpp21 |
C |
T |
9: 111,978,421 (GRCm39) |
A235T |
probably benign |
Het |
| C9orf72 |
T |
C |
4: 35,213,556 (GRCm39) |
D198G |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,936,078 (GRCm39) |
D939G |
probably benign |
Het |
| Celsr2 |
A |
T |
3: 108,320,610 (GRCm39) |
I734N |
probably damaging |
Het |
| Clcn1 |
C |
A |
6: 42,277,275 (GRCm39) |
N455K |
probably benign |
Het |
| Cpne8 |
C |
T |
15: 90,503,893 (GRCm39) |
V91I |
possibly damaging |
Het |
| Cstdc7 |
A |
G |
18: 42,306,727 (GRCm39) |
|
probably null |
Het |
| Ddx1 |
A |
G |
12: 13,279,295 (GRCm39) |
V448A |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Eeig1 |
G |
A |
2: 32,456,339 (GRCm39) |
A334T |
probably damaging |
Het |
| Eif2a |
G |
T |
3: 58,455,933 (GRCm39) |
D311Y |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,258,419 (GRCm39) |
E512K |
probably damaging |
Het |
| Esp15 |
A |
T |
17: 39,955,640 (GRCm39) |
Y69F |
probably benign |
Het |
| Gucy1a1 |
A |
T |
3: 82,016,380 (GRCm39) |
Y203N |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,562,321 (GRCm39) |
Q248R |
probably damaging |
Het |
| Ifit2 |
T |
A |
19: 34,550,937 (GRCm39) |
V159E |
possibly damaging |
Het |
| Il17rd |
T |
C |
14: 26,810,024 (GRCm39) |
V20A |
possibly damaging |
Het |
| Klf11 |
A |
T |
12: 24,704,929 (GRCm39) |
M111L |
probably benign |
Het |
| Lama5 |
T |
A |
2: 179,836,356 (GRCm39) |
H1165L |
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,139,522 (GRCm39) |
N702S |
probably damaging |
Het |
| Lta4h |
T |
C |
10: 93,307,736 (GRCm39) |
V323A |
probably damaging |
Het |
| Mkrn3 |
T |
C |
7: 62,068,735 (GRCm39) |
E352G |
possibly damaging |
Het |
| Ms4a19 |
T |
C |
19: 11,118,999 (GRCm39) |
S37G |
possibly damaging |
Het |
| Mtf2 |
T |
A |
5: 108,242,023 (GRCm39) |
L277Q |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,775,918 (GRCm39) |
N370D |
probably benign |
Het |
| Nlrp4e |
A |
C |
7: 23,036,316 (GRCm39) |
K723T |
probably benign |
Het |
| Nsun3 |
A |
G |
16: 62,555,689 (GRCm39) |
V279A |
possibly damaging |
Het |
| Pde6b |
A |
G |
5: 108,571,424 (GRCm39) |
D459G |
probably benign |
Het |
| Phgdh |
T |
C |
3: 98,235,655 (GRCm39) |
I121V |
probably benign |
Het |
| Pik3r5 |
T |
C |
11: 68,386,803 (GRCm39) |
C811R |
probably damaging |
Het |
| Spaca6 |
A |
C |
17: 18,051,344 (GRCm39) |
I27L |
probably benign |
Het |
| Trmt1l |
G |
A |
1: 151,330,746 (GRCm39) |
V588I |
probably benign |
Het |
| Tshr |
A |
G |
12: 91,503,967 (GRCm39) |
N302D |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,689,961 (GRCm39) |
D279G |
probably damaging |
Het |
| Wnt3a |
T |
C |
11: 59,166,106 (GRCm39) |
N58S |
probably damaging |
Het |
| Zkscan8 |
A |
G |
13: 21,704,895 (GRCm39) |
V276A |
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 |
|
R5334:Kcnq3
|
UTSW |
15 |
65,897,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GATGCAGAATGAAGTTGACCCG -3'
(R):5'- CCGTTTTCCATGGATAGGAGG -3'
Sequencing Primer
(F):5'- AAGTTGACCCGAGTGTGC -3'
(R):5'- TTCCATGGATAGGAGGTGAGACTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation