Incidental Mutation 'R8140:Kcnq3'
| ID |
632497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnq3
|
| Ensembl Gene |
ENSMUSG00000056258 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 3 |
| Synonyms |
|
| MMRRC Submission |
067568-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R8140 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
65858236-66158491 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65867390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 751
(I751T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070256]
|
| AlphaFold |
Q8K3F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070256
AA Change: I751T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: I751T
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 93.9%
|
| Validation Efficiency |
97% (64/66) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,954 (GRCm39) |
V230E |
possibly damaging |
Het |
| Amotl1 |
G |
A |
9: 14,484,011 (GRCm39) |
|
probably null |
Het |
| Atp7b |
C |
A |
8: 22,518,576 (GRCm39) |
E87D |
probably damaging |
Het |
| Bcat2 |
C |
T |
7: 45,237,775 (GRCm39) |
P347L |
probably damaging |
Het |
| Brox |
A |
T |
1: 183,075,437 (GRCm39) |
|
probably null |
Het |
| Cd37 |
A |
G |
7: 44,887,959 (GRCm39) |
I58T |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,252,829 (GRCm39) |
M333K |
probably benign |
Het |
| Chtop |
A |
G |
3: 90,412,700 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
A |
T |
6: 30,544,904 (GRCm39) |
K54N |
probably benign |
Het |
| Cpa6 |
A |
G |
1: 10,395,519 (GRCm39) |
S383P |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,540,748 (GRCm39) |
I2542N |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,090,357 (GRCm39) |
V1179I |
probably benign |
Het |
| Erbin |
T |
C |
13: 104,056,802 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
A |
T |
2: 130,457,170 (GRCm39) |
D473E |
possibly damaging |
Het |
| Fchsd1 |
T |
C |
18: 38,097,395 (GRCm39) |
E372G |
probably damaging |
Het |
| Fgl1 |
T |
C |
8: 41,653,646 (GRCm39) |
|
probably null |
Het |
| Fzd8 |
T |
G |
18: 9,213,797 (GRCm39) |
V293G |
probably damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,925 (GRCm39) |
H411L |
probably benign |
Het |
| Gm49380 |
G |
T |
9: 44,023,269 (GRCm39) |
D326E |
probably benign |
Het |
| Hcrtr1 |
G |
A |
4: 130,029,083 (GRCm39) |
R240C |
probably damaging |
Het |
| Hdac5 |
A |
T |
11: 102,088,181 (GRCm39) |
Y948N |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,295,167 (GRCm39) |
S301G |
probably benign |
Het |
| Htra4 |
A |
T |
8: 25,520,574 (GRCm39) |
D362E |
possibly damaging |
Het |
| Ighv1-9 |
G |
A |
12: 114,547,361 (GRCm39) |
P60L |
probably damaging |
Het |
| Magi3 |
T |
C |
3: 103,941,402 (GRCm39) |
Y851C |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,531,499 (GRCm39) |
S470P |
probably benign |
Het |
| Mfsd2a |
C |
T |
4: 122,843,091 (GRCm39) |
V397I |
probably benign |
Het |
| Mroh1 |
C |
A |
15: 76,318,073 (GRCm39) |
H867N |
probably benign |
Het |
| Mthfd1l |
C |
T |
10: 3,957,745 (GRCm39) |
R261* |
probably null |
Het |
| Myo3a |
A |
G |
2: 22,412,157 (GRCm39) |
I725M |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,099,552 (GRCm39) |
D4766G |
possibly damaging |
Het |
| Nek11 |
G |
T |
9: 105,270,156 (GRCm39) |
P22Q |
probably damaging |
Het |
| Or4p18 |
T |
C |
2: 88,232,457 (GRCm39) |
T274A |
possibly damaging |
Het |
| Or5k15 |
T |
C |
16: 58,709,948 (GRCm39) |
T212A |
probably benign |
Het |
| Or9q2 |
A |
T |
19: 13,772,603 (GRCm39) |
V124E |
possibly damaging |
Het |
| Peg10 |
C |
G |
6: 4,756,113 (GRCm39) |
Q230E |
unknown |
Het |
| Pipox |
T |
C |
11: 77,774,735 (GRCm39) |
D116G |
probably benign |
Het |
| Pkd1l2 |
C |
T |
8: 117,774,236 (GRCm39) |
R993H |
probably benign |
Het |
| Pkdrej |
A |
C |
15: 85,702,611 (GRCm39) |
N1108K |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,637,202 (GRCm39) |
R291Q |
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,134,309 (GRCm39) |
Y277N |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,126,805 (GRCm39) |
S78P |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,433,252 (GRCm39) |
L171Q |
probably damaging |
Het |
| Sfta2 |
A |
G |
17: 35,912,666 (GRCm39) |
E14G |
unknown |
Het |
| Sh3rf3 |
T |
A |
10: 58,885,177 (GRCm39) |
S353R |
possibly damaging |
Het |
| Slc37a1 |
A |
T |
17: 31,541,233 (GRCm39) |
I242F |
probably damaging |
Het |
| Srfbp1 |
T |
A |
18: 52,621,762 (GRCm39) |
D274E |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,959,127 (GRCm39) |
S685R |
possibly damaging |
Het |
| Tenm4 |
A |
C |
7: 96,544,383 (GRCm39) |
D2170A |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,691,265 (GRCm39) |
T472A |
probably damaging |
Het |
| Tspan9 |
T |
C |
6: 127,942,241 (GRCm39) |
H203R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,601,995 (GRCm39) |
T18556A |
possibly damaging |
Het |
| Usp25 |
T |
A |
16: 76,868,569 (GRCm39) |
Y323* |
probably null |
Het |
| Usp31 |
G |
T |
7: 121,248,249 (GRCm39) |
R1065S |
possibly damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,058 (GRCm39) |
T611S |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,864,317 (GRCm39) |
V552A |
|
Het |
| Zap70 |
G |
T |
1: 36,810,262 (GRCm39) |
R124L |
possibly damaging |
Het |
| Zfand6 |
A |
T |
7: 84,281,957 (GRCm39) |
S91T |
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 |
|
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 |
|
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'- TGCTGAAGCCACTTGGAGAC -3'
(R):5'- CAACAGGTACTCTGATTTGAAAACC -3'
Sequencing Primer
(F):5'- AAGCCACTTGGAGACCGCTC -3'
(R):5'- TCTGCAACTACTCAGAGACAGGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation