Incidental Mutation 'R5245:Kcnq3'
| ID |
401125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnq3
|
| Ensembl Gene |
ENSMUSG00000056258 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 3 |
| Synonyms |
|
| MMRRC Submission |
042816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5245 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
65858236-66158491 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65903284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 142
(V142A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070256]
|
| AlphaFold |
Q8K3F6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070256
AA Change: V142A
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: V142A
| 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
|
| Meta Mutation Damage Score |
0.5442 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
100% (51/51) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17b |
T |
A |
19: 21,661,624 (GRCm39) |
Y270* |
probably null |
Het |
| Akap9 |
A |
T |
5: 4,026,209 (GRCm39) |
Q59L |
probably damaging |
Het |
| Aloxe3 |
A |
T |
11: 69,020,502 (GRCm39) |
Q182L |
probably benign |
Het |
| Arhgef5 |
G |
T |
6: 43,242,614 (GRCm39) |
|
probably benign |
Het |
| Bcas3 |
T |
A |
11: 85,449,912 (GRCm39) |
N663K |
probably damaging |
Het |
| Cimap3 |
T |
C |
3: 105,921,770 (GRCm39) |
H51R |
possibly damaging |
Het |
| Cntfr |
A |
T |
4: 41,670,879 (GRCm39) |
W95R |
possibly damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,714,657 (GRCm39) |
T275A |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,473,873 (GRCm39) |
R227G |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,513,304 (GRCm39) |
W160* |
probably null |
Het |
| Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,823,505 (GRCm39) |
M6413V |
probably benign |
Het |
| Gm14401 |
C |
T |
2: 176,778,471 (GRCm39) |
P186S |
probably damaging |
Het |
| Hrc |
G |
A |
7: 44,984,855 (GRCm39) |
G2D |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,552,950 (GRCm39) |
C454Y |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,680,292 (GRCm39) |
T2068A |
probably damaging |
Het |
| Mab21l2 |
T |
C |
3: 86,454,799 (GRCm39) |
E67G |
possibly damaging |
Het |
| Map3k5 |
G |
A |
10: 20,016,437 (GRCm39) |
V1343I |
probably benign |
Het |
| Mcm4 |
T |
A |
16: 15,448,289 (GRCm39) |
T423S |
probably benign |
Het |
| Mmp16 |
A |
G |
4: 18,054,596 (GRCm39) |
|
probably benign |
Het |
| Nat3 |
C |
T |
8: 68,000,832 (GRCm39) |
T237I |
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,828,179 (GRCm39) |
*484R |
probably null |
Het |
| Nsmf |
A |
G |
2: 24,946,119 (GRCm39) |
E202G |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,496,443 (GRCm39) |
V358A |
probably benign |
Het |
| Or2v2 |
T |
A |
11: 49,004,116 (GRCm39) |
I146F |
probably benign |
Het |
| Or4b1d |
T |
A |
2: 89,968,606 (GRCm39) |
K292N |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,891,910 (GRCm39) |
E466G |
probably damaging |
Het |
| Pim3 |
A |
G |
15: 88,747,404 (GRCm39) |
E90G |
possibly damaging |
Het |
| Recql5 |
T |
C |
11: 115,784,385 (GRCm39) |
E905G |
probably damaging |
Het |
| Rnf31 |
T |
G |
14: 55,839,163 (GRCm39) |
L925R |
probably damaging |
Het |
| Secisbp2l |
A |
G |
2: 125,589,511 (GRCm39) |
V679A |
probably damaging |
Het |
| Setdb2 |
T |
A |
14: 59,663,943 (GRCm39) |
E68V |
probably null |
Het |
| Shtn1 |
T |
A |
19: 59,020,652 (GRCm39) |
N190I |
possibly damaging |
Het |
| Slc25a25 |
G |
A |
2: 32,311,340 (GRCm39) |
Q14* |
probably null |
Het |
| Snrnp27 |
A |
G |
6: 86,659,941 (GRCm39) |
S18P |
unknown |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Tbx5 |
T |
C |
5: 120,021,230 (GRCm39) |
V412A |
possibly damaging |
Het |
| Tcea3 |
A |
G |
4: 135,991,813 (GRCm39) |
T166A |
probably benign |
Het |
| Tdrp |
A |
T |
8: 14,024,479 (GRCm39) |
|
probably benign |
Het |
| Tent5a |
G |
T |
9: 85,208,401 (GRCm39) |
Q160K |
possibly damaging |
Het |
| Tmem132e |
T |
C |
11: 82,333,464 (GRCm39) |
V624A |
probably damaging |
Het |
| Tnnt1 |
T |
C |
7: 4,513,066 (GRCm39) |
D72G |
probably damaging |
Het |
| Trim80 |
C |
A |
11: 115,332,398 (GRCm39) |
H197N |
probably damaging |
Het |
| Zfp322a |
A |
T |
13: 23,541,156 (GRCm39) |
C195* |
probably null |
Het |
| Zfp335 |
A |
G |
2: 164,736,678 (GRCm39) |
S986P |
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 |
|
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 |
|
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'- GGATCATCATCAGAAAGGCTATGC -3'
(R):5'- TGTGGCTGATGGATGAAGTAAC -3'
Sequencing Primer
(F):5'- AAGACAAAGGGGGCATTGCTTTTTC -3'
(R):5'- AGCCAGGACTAAAGCTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation