Incidental Mutation 'R4571:Kcnq3'
ID |
342163 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcnq3
|
Ensembl Gene |
ENSMUSG00000056258 |
Gene Name |
potassium voltage-gated channel, subfamily Q, member 3 |
Synonyms |
|
MMRRC Submission |
041795-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R4571 (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 65902461 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 172
(F172L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070256]
|
AlphaFold |
Q8K3F6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070256
AA Change: F172L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000063380 Gene: ENSMUSG00000056258 AA Change: F172L
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 |
0.2613 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (69/69) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
T |
11: 109,920,884 (GRCm39) |
C1497S |
probably damaging |
Het |
Acoxl |
G |
T |
2: 127,719,727 (GRCm39) |
G163W |
probably damaging |
Het |
Apbb1 |
T |
A |
7: 105,222,969 (GRCm39) |
N214I |
probably damaging |
Het |
Apol7b |
T |
C |
15: 77,307,734 (GRCm39) |
K254E |
probably benign |
Het |
Arl4d |
T |
A |
11: 101,557,969 (GRCm39) |
V165E |
possibly damaging |
Het |
Brca1 |
C |
A |
11: 101,408,192 (GRCm39) |
R1377L |
probably benign |
Het |
Btf3 |
A |
G |
13: 98,449,792 (GRCm39) |
F65L |
probably benign |
Het |
C2 |
T |
C |
17: 35,082,635 (GRCm39) |
N495D |
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,607,341 (GRCm39) |
T1188A |
probably benign |
Het |
Chd7 |
C |
A |
4: 8,866,217 (GRCm39) |
D796E |
probably benign |
Het |
Clasp2 |
G |
T |
9: 113,676,789 (GRCm39) |
L173F |
probably damaging |
Het |
Clec4g |
A |
T |
8: 3,768,766 (GRCm39) |
|
probably null |
Het |
Col9a3 |
T |
C |
2: 180,258,159 (GRCm39) |
|
probably benign |
Het |
Csmd2 |
T |
A |
4: 128,373,888 (GRCm39) |
|
probably null |
Het |
Ddx11 |
T |
C |
17: 66,437,768 (GRCm39) |
C165R |
probably benign |
Het |
Dnah7c |
A |
C |
1: 46,572,376 (GRCm39) |
M950L |
probably damaging |
Het |
Dusp23 |
A |
C |
1: 172,460,181 (GRCm39) |
|
probably null |
Het |
Ebag9 |
A |
T |
15: 44,500,158 (GRCm39) |
|
probably null |
Het |
Edn3 |
G |
A |
2: 174,623,697 (GRCm39) |
A211T |
probably benign |
Het |
Eif3e |
G |
A |
15: 43,129,558 (GRCm39) |
T190I |
possibly damaging |
Het |
Fam76a |
T |
C |
4: 132,648,208 (GRCm39) |
H3R |
possibly damaging |
Het |
Gabbr1 |
G |
T |
17: 37,365,128 (GRCm39) |
E138* |
probably null |
Het |
Galc |
T |
C |
12: 98,188,876 (GRCm39) |
T412A |
probably benign |
Het |
Gimap3 |
T |
C |
6: 48,742,654 (GRCm39) |
D92G |
possibly damaging |
Het |
Gin1 |
T |
C |
1: 97,712,801 (GRCm39) |
Y285H |
probably damaging |
Het |
Gm4868 |
A |
G |
5: 125,925,782 (GRCm39) |
|
noncoding transcript |
Het |
Gm7052 |
T |
A |
17: 22,259,405 (GRCm39) |
|
probably benign |
Het |
Gpcpd1 |
T |
A |
2: 132,392,270 (GRCm39) |
E226D |
probably benign |
Het |
Hoxb4 |
T |
C |
11: 96,209,992 (GRCm39) |
S133P |
possibly damaging |
Het |
Hrg |
C |
T |
16: 22,779,972 (GRCm39) |
|
probably benign |
Het |
Insrr |
A |
G |
3: 87,708,194 (GRCm39) |
K212R |
probably benign |
Het |
Ipp |
A |
G |
4: 116,387,655 (GRCm39) |
D411G |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kdm5d |
T |
C |
Y: 927,110 (GRCm39) |
F616S |
probably damaging |
Het |
Lars1 |
T |
C |
18: 42,361,295 (GRCm39) |
|
probably null |
Het |
Lmo7 |
G |
T |
14: 102,125,030 (GRCm39) |
Q496H |
probably damaging |
Het |
Map3k9 |
C |
A |
12: 81,780,865 (GRCm39) |
A432S |
probably benign |
Het |
Nop2 |
T |
G |
6: 125,117,844 (GRCm39) |
|
probably null |
Het |
Nup50l |
T |
A |
6: 96,141,862 (GRCm39) |
N394I |
probably damaging |
Het |
Or10ag53 |
C |
A |
2: 87,082,802 (GRCm39) |
Q174K |
possibly damaging |
Het |
Or2h2 |
T |
C |
17: 37,396,471 (GRCm39) |
I195M |
probably damaging |
Het |
Or5m11b |
A |
T |
2: 85,806,175 (GRCm39) |
E196V |
probably damaging |
Het |
Or6k2 |
A |
T |
1: 173,986,494 (GRCm39) |
N52Y |
possibly damaging |
Het |
Pan2 |
A |
G |
10: 128,144,512 (GRCm39) |
T187A |
probably benign |
Het |
Pcmtd2 |
A |
G |
2: 181,484,217 (GRCm39) |
E9G |
possibly damaging |
Het |
Pik3cb |
T |
A |
9: 98,972,310 (GRCm39) |
I283F |
possibly damaging |
Het |
Pkhd1 |
G |
A |
1: 20,683,633 (GRCm39) |
T40I |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,493,296 (GRCm39) |
V1857A |
possibly damaging |
Het |
Polg |
T |
C |
7: 79,110,127 (GRCm39) |
S334G |
probably damaging |
Het |
Rem2 |
T |
C |
14: 54,715,116 (GRCm39) |
S98P |
probably damaging |
Het |
Rpl5-ps2 |
G |
T |
2: 154,546,156 (GRCm39) |
|
noncoding transcript |
Het |
Slc6a18 |
A |
T |
13: 73,814,489 (GRCm39) |
N468K |
possibly damaging |
Het |
Slco4a1 |
A |
T |
2: 180,106,171 (GRCm39) |
T118S |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,738,688 (GRCm39) |
N3520K |
possibly damaging |
Het |
Tapbp |
C |
A |
17: 34,145,427 (GRCm39) |
D415E |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,576,501 (GRCm39) |
T31A |
probably benign |
Het |
Trpv6 |
C |
T |
6: 41,598,678 (GRCm39) |
R649H |
probably damaging |
Het |
Vmn1r188 |
A |
G |
13: 22,272,688 (GRCm39) |
Y214C |
probably benign |
Het |
Vps8 |
T |
A |
16: 21,254,525 (GRCm39) |
I59N |
probably damaging |
Het |
Wnt9a |
T |
C |
11: 59,222,163 (GRCm39) |
C354R |
probably damaging |
Het |
Zcchc2 |
A |
G |
1: 105,958,987 (GRCm39) |
T1153A |
possibly damaging |
Het |
Zfp30 |
A |
G |
7: 29,492,627 (GRCm39) |
R294G |
probably damaging |
Het |
Zfp558 |
A |
T |
9: 18,367,799 (GRCm39) |
C330S |
possibly damaging |
Het |
Zfp62 |
A |
C |
11: 49,106,568 (GRCm39) |
S220R |
probably damaging |
Het |
Zfp62 |
G |
T |
11: 49,106,569 (GRCm39) |
S220I |
probably damaging |
Het |
Zp3r |
A |
G |
1: 130,505,757 (GRCm39) |
S423P |
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 |
|
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'- TTTGGCACTCTTCACCCATAAAAC -3'
(R):5'- GACCTGGATTCATTTTGCATAGAGG -3'
Sequencing Primer
(F):5'- TCTTCACCCATAAAACCTTCCTAGAG -3'
(R):5'- GAGCTGTCACAATGGCCAACATG -3'
|
Posted On |
2015-09-24 |