Incidental Mutation 'R4421:Kcnq3'
| ID |
327114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnq3
|
| Ensembl Gene |
ENSMUSG00000056258 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 3 |
| Synonyms |
|
| MMRRC Submission |
041142-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R4421 (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 C
at 65867360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 761
(Y761C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070256]
|
| AlphaFold |
Q8K3F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070256
AA Change: Y761C
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: Y761C
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
C |
9: 106,312,912 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,714,421 (GRCm39) |
E234G |
probably damaging |
Het |
| Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
| C1s2 |
T |
C |
6: 124,602,174 (GRCm39) |
D673G |
probably benign |
Het |
| Capza3 |
G |
A |
6: 139,987,768 (GRCm39) |
M122I |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,242,800 (GRCm39) |
S735P |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,441,508 (GRCm39) |
F13L |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,805,672 (GRCm39) |
M1078K |
unknown |
Het |
| Colgalt2 |
A |
T |
1: 152,360,763 (GRCm39) |
I267F |
probably damaging |
Het |
| Cpped1 |
T |
C |
16: 11,623,221 (GRCm39) |
*299W |
probably null |
Het |
| Cyp3a59 |
A |
G |
5: 146,041,713 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
T |
A |
11: 106,121,964 (GRCm39) |
Y160N |
probably damaging |
Het |
| Dhx35 |
A |
T |
2: 158,648,321 (GRCm39) |
R60W |
probably damaging |
Het |
| Gbp10 |
T |
C |
5: 105,372,517 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,283,891 (GRCm39) |
T467A |
possibly damaging |
Het |
| Hip1r |
G |
C |
5: 124,135,925 (GRCm39) |
G542A |
possibly damaging |
Het |
| Hspg2 |
G |
A |
4: 137,275,433 (GRCm39) |
A2748T |
probably benign |
Het |
| Krt13 |
T |
G |
11: 100,009,761 (GRCm39) |
T340P |
possibly damaging |
Het |
| Map2k5 |
A |
G |
9: 63,071,412 (GRCm39) |
C435R |
probably damaging |
Het |
| Ms4a4c |
T |
A |
19: 11,393,739 (GRCm39) |
I53K |
probably damaging |
Het |
| Myh15 |
T |
A |
16: 48,929,707 (GRCm39) |
F544L |
probably damaging |
Het |
| Neurod2 |
G |
T |
11: 98,219,026 (GRCm39) |
S46* |
probably null |
Het |
| Nsd3 |
T |
A |
8: 26,131,288 (GRCm39) |
S218T |
probably damaging |
Het |
| Or2ag2 |
G |
T |
7: 106,485,660 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4p22 |
A |
T |
2: 88,317,585 (GRCm39) |
N170Y |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Prrg3 |
A |
T |
X: 71,010,915 (GRCm39) |
S141C |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,425,056 (GRCm39) |
D433E |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,154,836 (GRCm39) |
D278G |
probably damaging |
Het |
| Sbpl |
A |
G |
17: 24,173,860 (GRCm39) |
L8P |
unknown |
Het |
| Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,723,719 (GRCm39) |
E311G |
probably damaging |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,189,167 (GRCm39) |
N3917D |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,708 (GRCm39) |
N619D |
probably damaging |
Het |
| Xab2 |
C |
A |
8: 3,664,244 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- CACTGGGGCCAAATACATAATC -3'
(R):5'- AACTACTCAGAGACAGGGCC -3'
Sequencing Primer
(F):5'- GGGGCCAAATACATAATCATCTCTG -3'
(R):5'- TACAGCTTCCACCAGGTGC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation