Incidental Mutation 'R5630:Kcnq3'
| ID |
442074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnq3
|
| Ensembl Gene |
ENSMUSG00000056258 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 3 |
| Synonyms |
|
| MMRRC Submission |
043281-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R5630 (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 65896971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 310
(W310R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070256]
|
| AlphaFold |
Q8K3F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070256
AA Change: W310R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: W310R
| 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: 97.5%
- 20x: 95.8%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3s2 |
A |
T |
7: 79,559,647 (GRCm39) |
V94E |
probably damaging |
Het |
| Aven |
T |
A |
2: 112,344,890 (GRCm39) |
Y109* |
probably null |
Het |
| Cad |
T |
C |
5: 31,217,917 (GRCm39) |
S401P |
probably damaging |
Het |
| Ccdc122 |
A |
T |
14: 77,330,216 (GRCm39) |
I189F |
probably damaging |
Het |
| Cdkal1 |
A |
T |
13: 29,961,198 (GRCm39) |
|
probably null |
Het |
| Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
| Cnih4 |
C |
G |
1: 180,989,748 (GRCm39) |
F120L |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 99,999,794 (GRCm39) |
D184G |
probably damaging |
Het |
| Cpa2 |
T |
A |
6: 30,550,731 (GRCm39) |
|
probably null |
Het |
| Cpne5 |
T |
C |
17: 29,445,190 (GRCm39) |
D38G |
probably damaging |
Het |
| Dst |
GGAATCGTGCACTCGAA |
GGAA |
1: 34,227,866 (GRCm39) |
|
probably null |
Het |
| E330034G19Rik |
A |
G |
14: 24,358,336 (GRCm39) |
|
probably benign |
Het |
| Flrt1 |
A |
T |
19: 7,073,830 (GRCm39) |
I239N |
probably damaging |
Het |
| Foxb1 |
T |
A |
9: 69,667,402 (GRCm39) |
I43F |
probably damaging |
Het |
| Klrb1a |
A |
T |
6: 128,595,573 (GRCm39) |
D60E |
probably benign |
Het |
| Lbr |
A |
G |
1: 181,644,529 (GRCm39) |
|
probably null |
Het |
| Lsm8 |
T |
A |
6: 18,851,672 (GRCm39) |
I41N |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,577,764 (GRCm39) |
M305V |
possibly damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Or5p4 |
T |
A |
7: 107,680,323 (GRCm39) |
F107L |
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,279,402 (GRCm39) |
Y177H |
probably damaging |
Het |
| Or8g20 |
T |
A |
9: 39,396,247 (GRCm39) |
M98L |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,208 (GRCm39) |
D196V |
possibly damaging |
Het |
| Pcmt1 |
A |
G |
10: 7,524,857 (GRCm39) |
Y84H |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,587,697 (GRCm39) |
I877K |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,553,195 (GRCm39) |
Y662H |
probably benign |
Het |
| Prdx1 |
T |
A |
4: 116,556,414 (GRCm39) |
D187E |
probably benign |
Het |
| Ranbp2 |
T |
G |
10: 58,314,898 (GRCm39) |
Y1873D |
probably damaging |
Het |
| Rcor2 |
A |
T |
19: 7,248,416 (GRCm39) |
R144W |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,647,075 (GRCm39) |
I222S |
probably benign |
Het |
| Rrp8 |
C |
A |
7: 105,382,608 (GRCm39) |
R448L |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,616,691 (GRCm39) |
I3909N |
probably damaging |
Het |
| Scn2a |
T |
G |
2: 65,556,709 (GRCm39) |
V1147G |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Smox |
C |
T |
2: 131,366,786 (GRCm39) |
Q582* |
probably null |
Het |
| Sqor |
T |
A |
2: 122,651,277 (GRCm39) |
L180H |
possibly damaging |
Het |
| Stox2 |
T |
C |
8: 47,644,925 (GRCm39) |
D845G |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,250,102 (GRCm39) |
I469V |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tox |
C |
CTGGAGT |
4: 6,688,835 (GRCm39) |
|
probably benign |
Het |
| Trgc2 |
A |
G |
13: 19,489,279 (GRCm39) |
F151S |
possibly damaging |
Het |
| Upf2 |
T |
C |
2: 6,032,112 (GRCm39) |
V141A |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,615,125 (GRCm39) |
L772P |
probably damaging |
Het |
| Vmn2r83 |
A |
T |
10: 79,327,785 (GRCm39) |
T798S |
possibly damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Zfp143 |
C |
T |
7: 109,687,980 (GRCm39) |
T473I |
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 |
|
R5528:Kcnq3
|
UTSW |
15 |
65,897,027 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5532:Kcnq3
|
UTSW |
15 |
65,869,622 (GRCm39) |
nonsense |
probably null |
|
|
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'- CCTCATTGGTAGAAGCTTCTTGC -3'
(R):5'- CCATGGATAGGAGGTGAGACTC -3'
Sequencing Primer
(F):5'- GCTTCCTCTGTGTAGATTCAAAG -3'
(R):5'- AGACTGCCTGGCTCAAGCTTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation