Incidental Mutation 'R3826:Kcnq2'
| ID |
275386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnq2
|
| Ensembl Gene |
ENSMUSG00000016346 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 2 |
| Synonyms |
Nmf134, KQT2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3826 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180717372-180777093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 180746693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 369
(V369I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016491]
[ENSMUST00000049792]
[ENSMUST00000081528]
[ENSMUST00000103047]
[ENSMUST00000103048]
[ENSMUST00000103050]
[ENSMUST00000149964]
[ENSMUST00000103051]
[ENSMUST00000129695]
[ENSMUST00000197015]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016491
AA Change: V369I
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346
AA Change: V369I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
7.3e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.5e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
595 |
2e-59 |
PFAM |
|
Pfam:KCNQ_channel
|
593 |
673 |
1.7e-22 |
PFAM |
|
low complexity region
|
711 |
723 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049792
AA Change: V369I
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346
AA Change: V369I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
7.2e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.5e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
565 |
3.1e-55 |
PFAM |
|
Pfam:KCNQ_channel
|
587 |
668 |
6.8e-23 |
PFAM |
|
low complexity region
|
706 |
718 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081528
AA Change: V369I
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346
AA Change: V369I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
4.3e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
1.7e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
564 |
2.3e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103047
AA Change: V369I
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346
AA Change: V369I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
7.1e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.5e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
424 |
583 |
2e-59 |
PFAM |
|
Pfam:KCNQ_channel
|
581 |
661 |
1.7e-22 |
PFAM |
|
low complexity region
|
699 |
711 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103048
AA Change: V369I
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346
AA Change: V369I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
6.7e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.4e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
637 |
1.3e-82 |
PFAM |
|
low complexity region
|
675 |
687 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000103049
AA Change: V312I
|
| SMART Domains |
Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
AA Change: V312I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
35 |
268 |
3.7e-32 |
PFAM |
|
Pfam:Ion_trans_2
|
181 |
261 |
1.1e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
392 |
584 |
1e-92 |
PFAM |
|
Pfam:KCNQ2_u3
|
591 |
679 |
3.9e-39 |
PFAM |
|
Pfam:KCNQC3-Ank-G_bd
|
692 |
791 |
1.1e-48 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000103050
AA Change: V369I
|
| SMART Domains |
Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
AA Change: V369I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
8.7e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.9e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
637 |
1.7e-82 |
PFAM |
|
low complexity region
|
675 |
687 |
N/A |
INTRINSIC |
|
Pfam:KCNQC3-Ank-G_bd
|
737 |
839 |
1.6e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149964
AA Change: V369I
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
AA Change: V369I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
91 |
324 |
4.4e-32 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
1.3e-14 |
PFAM |
|
low complexity region
|
418 |
431 |
N/A |
INTRINSIC |
|
Pfam:KCNQ_channel
|
466 |
659 |
6.2e-94 |
PFAM |
|
Pfam:KCNQ2_u3
|
666 |
754 |
4.5e-39 |
PFAM |
|
Pfam:KCNQC3-Ank-G_bd
|
767 |
866 |
1.2e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139458
|
| SMART Domains |
Protein: ENSMUSP00000130633
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
91 |
324 |
2.6e-32 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
9.7e-15 |
PFAM |
|
low complexity region
|
408 |
425 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103051
AA Change: V369I
PolyPhen 2
Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
AA Change: V369I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
8.9e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.9e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
446 |
647 |
1.7e-82 |
PFAM |
|
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
|
Pfam:KCNQC3-Ank-G_bd
|
747 |
849 |
1.7e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129073
|
| SMART Domains |
Protein: ENSMUSP00000127061
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
1e-28 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
3.4e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
565 |
3e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129695
AA Change: V255I
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123488
Gene: ENSMUSG00000016346
AA Change: V255I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
14 |
198 |
6.8e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
123 |
203 |
2.4e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
320 |
521 |
1.3e-82 |
PFAM |
|
low complexity region
|
559 |
571 |
N/A |
INTRINSIC |
|
Pfam:KCNQC3-Ank-G_bd
|
621 |
723 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144592
|
| SMART Domains |
Protein: ENSMUSP00000133237
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
5.6e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.2e-14 |
PFAM |
|
low complexity region
|
398 |
415 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197015
AA Change: V369I
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
AA Change: V369I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
8.7e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
2.9e-14 |
PFAM |
|
Pfam:KCNQ_channel
|
436 |
637 |
1.7e-82 |
PFAM |
|
low complexity region
|
675 |
687 |
N/A |
INTRINSIC |
|
Pfam:KCNQC3-Ank-G_bd
|
737 |
839 |
1.6e-51 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000197599
AA Change: V87I
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123336
|
| SMART Domains |
Protein: ENSMUSP00000130700
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
2.2e-30 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
1.6e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154164
|
| SMART Domains |
Protein: ENSMUSP00000131544
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
312 |
1.4e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
317 |
7.8e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140789
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129361
|
| SMART Domains |
Protein: ENSMUSP00000131756
Gene: ENSMUSG00000016346
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
128 |
310 |
7.6e-29 |
PFAM |
|
Pfam:Ion_trans_2
|
237 |
311 |
2.9e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145861
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation die perinatally with pulmonary atelectasis. Heterozygous mice exhibit a hypersensitivity to the epileptic inducer pentylenetetrazole. 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
T |
A |
3: 59,843,896 (GRCm39) |
S197T |
possibly damaging |
Het |
| Actl6b |
T |
C |
5: 137,565,535 (GRCm39) |
L377P |
probably damaging |
Het |
| Apc |
C |
A |
18: 34,412,388 (GRCm39) |
Q236K |
possibly damaging |
Het |
| Atn1 |
G |
A |
6: 124,723,182 (GRCm39) |
|
probably benign |
Het |
| Ccr3 |
A |
G |
9: 123,829,714 (GRCm39) |
T350A |
possibly damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,367,675 (GRCm39) |
V1015A |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col1a2 |
A |
G |
6: 4,516,960 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Dhx37 |
T |
C |
5: 125,508,677 (GRCm39) |
K86R |
probably benign |
Het |
| Dlec1 |
T |
C |
9: 118,972,129 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Fam234a |
T |
C |
17: 26,437,163 (GRCm39) |
E172G |
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gas2 |
T |
C |
7: 51,586,367 (GRCm39) |
|
probably null |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
| Hgfac |
C |
A |
5: 35,205,506 (GRCm39) |
D595E |
probably damaging |
Het |
| Kcnj10 |
A |
T |
1: 172,197,616 (GRCm39) |
S377C |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,805,880 (GRCm39) |
|
probably null |
Het |
| Lpcat1 |
T |
C |
13: 73,637,212 (GRCm39) |
I114T |
possibly damaging |
Het |
| Mast4 |
G |
T |
13: 102,875,319 (GRCm39) |
H1350N |
probably damaging |
Het |
| Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
| Muc21 |
A |
G |
17: 35,932,504 (GRCm39) |
|
probably benign |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,195,756 (GRCm39) |
|
probably benign |
Het |
| Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
| Or5t17 |
T |
A |
2: 86,832,388 (GRCm39) |
I25K |
probably damaging |
Het |
| Or9g4b |
C |
T |
2: 85,616,559 (GRCm39) |
R235* |
probably null |
Het |
| Panx2 |
A |
G |
15: 88,952,664 (GRCm39) |
D377G |
probably damaging |
Het |
| Pcdhb10 |
C |
A |
18: 37,545,470 (GRCm39) |
T182N |
probably damaging |
Het |
| Pdha2 |
G |
T |
3: 140,916,889 (GRCm39) |
F206L |
possibly damaging |
Het |
| Pgd |
T |
C |
4: 149,250,461 (GRCm39) |
|
probably benign |
Het |
| Pgs1 |
C |
T |
11: 117,910,584 (GRCm39) |
|
probably null |
Het |
| Rere |
T |
C |
4: 150,554,785 (GRCm39) |
V161A |
probably benign |
Het |
| Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Rubcnl |
C |
T |
14: 75,269,665 (GRCm39) |
L108F |
possibly damaging |
Het |
| Sap18b |
T |
C |
8: 96,552,185 (GRCm39) |
F65S |
probably damaging |
Het |
| Scap |
A |
G |
9: 110,210,365 (GRCm39) |
M925V |
probably benign |
Het |
| Slc7a8 |
A |
G |
14: 54,975,029 (GRCm39) |
I200T |
probably damaging |
Het |
| Srrm3 |
A |
G |
5: 135,886,068 (GRCm39) |
D336G |
probably damaging |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
C |
G |
17: 3,557,976 (GRCm39) |
|
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Trio |
T |
A |
15: 27,833,156 (GRCm39) |
K75N |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
| Ube3b |
C |
A |
5: 114,538,012 (GRCm39) |
Q368K |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably damaging |
Het |
| Zfp37 |
T |
C |
4: 62,110,800 (GRCm39) |
N88S |
probably benign |
Het |
| Zswim8 |
C |
T |
14: 20,761,157 (GRCm39) |
R142* |
probably null |
Het |
|
| Other mutations in Kcnq2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01063:Kcnq2
|
APN |
2 |
180,751,582 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02064:Kcnq2
|
APN |
2 |
180,750,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02231:Kcnq2
|
APN |
2 |
180,723,508 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02261:Kcnq2
|
APN |
2 |
180,723,483 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02510:Kcnq2
|
APN |
2 |
180,723,154 (GRCm39) |
missense |
probably benign |
|
|
IGL02583:Kcnq2
|
APN |
2 |
180,723,295 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02627:Kcnq2
|
APN |
2 |
180,724,120 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03303:Kcnq2
|
APN |
2 |
180,724,182 (GRCm39) |
missense |
probably benign |
|
|
R0269:Kcnq2
|
UTSW |
2 |
180,738,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1535:Kcnq2
|
UTSW |
2 |
180,776,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1688:Kcnq2
|
UTSW |
2 |
180,728,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1776:Kcnq2
|
UTSW |
2 |
180,742,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1946:Kcnq2
|
UTSW |
2 |
180,730,244 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2105:Kcnq2
|
UTSW |
2 |
180,723,145 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2382:Kcnq2
|
UTSW |
2 |
180,753,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2912:Kcnq2
|
UTSW |
2 |
180,723,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3898:Kcnq2
|
UTSW |
2 |
180,751,479 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4282:Kcnq2
|
UTSW |
2 |
180,722,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4938:Kcnq2
|
UTSW |
2 |
180,728,766 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4962:Kcnq2
|
UTSW |
2 |
180,753,836 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5055:Kcnq2
|
UTSW |
2 |
180,728,554 (GRCm39) |
intron |
probably benign |
|
|
R5107:Kcnq2
|
UTSW |
2 |
180,750,340 (GRCm39) |
intron |
probably benign |
|
|
R5371:Kcnq2
|
UTSW |
2 |
180,776,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5557:Kcnq2
|
UTSW |
2 |
180,776,690 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5839:Kcnq2
|
UTSW |
2 |
180,751,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5998:Kcnq2
|
UTSW |
2 |
180,728,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Kcnq2
|
UTSW |
2 |
180,729,449 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6207:Kcnq2
|
UTSW |
2 |
180,755,026 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6744:Kcnq2
|
UTSW |
2 |
180,727,099 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7018:Kcnq2
|
UTSW |
2 |
180,723,517 (GRCm39) |
nonsense |
probably null |
|
|
R7266:Kcnq2
|
UTSW |
2 |
180,776,885 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R7291:Kcnq2
|
UTSW |
2 |
180,730,172 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7319:Kcnq2
|
UTSW |
2 |
180,750,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Kcnq2
|
UTSW |
2 |
180,754,887 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7573:Kcnq2
|
UTSW |
2 |
180,723,382 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7897:Kcnq2
|
UTSW |
2 |
180,722,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8942:Kcnq2
|
UTSW |
2 |
180,724,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Kcnq2
|
UTSW |
2 |
180,751,562 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9394:Kcnq2
|
UTSW |
2 |
180,724,217 (GRCm39) |
missense |
probably benign |
|
|
R9516:Kcnq2
|
UTSW |
2 |
180,776,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9544:Kcnq2
|
UTSW |
2 |
180,729,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9592:Kcnq2
|
UTSW |
2 |
180,728,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGAGTGGGGAATCACAAC -3'
(R):5'- GGGCAGCATGCTTGTACTAC -3'
Sequencing Primer
(F):5'- TGGGGAATCACAACACAATGTAC -3'
(R):5'- CTACAAGGTTAAACTGATGCTGTGG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation