Incidental Mutation 'R7291:Kcnq2'
| ID |
566390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnq2
|
| Ensembl Gene |
ENSMUSG00000016346 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 2 |
| Synonyms |
Nmf134, KQT2 |
| MMRRC Submission |
045322-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7291 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
180717372-180777093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 180730172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 498
(I498N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122915
(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: I470N
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346
AA Change: I470N
| 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: I470N
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346
AA Change: I470N
| 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 |
possibly damaging
Transcript: ENSMUST00000081528
AA Change: I470N
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346
AA Change: I470N
| 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: I458N
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346
AA Change: I458N
| 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 |
possibly damaging
Transcript: ENSMUST00000103048
AA Change: I470N
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346
AA Change: I470N
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
AA Change: I423N
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
AA Change: I468N
| 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 |
possibly damaging
Transcript: ENSMUST00000149964
AA Change: I498N
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
AA Change: I498N
| 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 |
possibly damaging
Transcript: ENSMUST00000103051
AA Change: I480N
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
AA Change: I480N
| 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 |
probably benign
Transcript: ENSMUST00000129695
AA Change: I354N
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000123488
Gene: ENSMUSG00000016346
AA Change: I354N
| 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 |
possibly damaging
Transcript: ENSMUST00000197015
AA Change: I470N
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
AA Change: I470N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430069I07Rik |
T |
C |
15: 34,355,699 (GRCm39) |
E51G |
possibly damaging |
Het |
| Abca14 |
C |
A |
7: 119,888,832 (GRCm39) |
C1259* |
probably null |
Het |
| Ablim1 |
T |
C |
19: 57,204,340 (GRCm39) |
E17G |
probably benign |
Het |
| Acsf3 |
G |
A |
8: 123,540,316 (GRCm39) |
V505I |
probably benign |
Het |
| Actn1 |
T |
C |
12: 80,220,859 (GRCm39) |
M650V |
probably benign |
Het |
| Adamts4 |
G |
A |
1: 171,084,097 (GRCm39) |
V525I |
probably benign |
Het |
| Adh1 |
T |
C |
3: 137,988,569 (GRCm39) |
Y181H |
probably damaging |
Het |
| Alpl |
G |
A |
4: 137,480,009 (GRCm39) |
R168W |
probably damaging |
Het |
| Ate1 |
T |
G |
7: 130,121,661 (GRCm39) |
K11Q |
probably benign |
Het |
| Atpaf1 |
T |
A |
4: 115,668,288 (GRCm39) |
F314L |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,463,291 (GRCm39) |
D1004V |
probably damaging |
Het |
| Bpifb9a |
C |
T |
2: 154,109,616 (GRCm39) |
T504M |
probably damaging |
Het |
| C1s2 |
T |
A |
6: 124,602,343 (GRCm39) |
I623F |
probably benign |
Het |
| Card11 |
T |
C |
5: 140,886,825 (GRCm39) |
D308G |
probably damaging |
Het |
| Cul9 |
C |
T |
17: 46,851,359 (GRCm39) |
V354I |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,020,662 (GRCm39) |
F1236I |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 6,929,590 (GRCm39) |
I4266F |
possibly damaging |
Het |
| Ear10 |
A |
T |
14: 44,160,377 (GRCm39) |
V150D |
probably damaging |
Het |
| Elfn2 |
C |
T |
15: 78,557,183 (GRCm39) |
A455T |
probably benign |
Het |
| Erp44 |
A |
G |
4: 48,208,792 (GRCm39) |
Y223H |
probably damaging |
Het |
| Fam110b |
T |
A |
4: 5,798,895 (GRCm39) |
H104Q |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,800,817 (GRCm39) |
N1288D |
probably benign |
Het |
| Fcgbpl1 |
A |
C |
7: 27,839,645 (GRCm39) |
D486A |
probably benign |
Het |
| Fcrl1 |
T |
C |
3: 87,293,088 (GRCm39) |
|
probably null |
Het |
| Fmo2 |
G |
T |
1: 162,715,271 (GRCm39) |
P117Q |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,810,863 (GRCm39) |
K2394R |
possibly damaging |
Het |
| Gab1 |
T |
G |
8: 81,526,780 (GRCm39) |
K106T |
probably damaging |
Het |
| Gatad2b |
T |
C |
3: 90,258,721 (GRCm39) |
V248A |
probably damaging |
Het |
| Gemin6 |
T |
C |
17: 80,535,204 (GRCm39) |
S55P |
possibly damaging |
Het |
| Gfm2 |
G |
A |
13: 97,311,532 (GRCm39) |
V701I |
probably benign |
Het |
| Gm3250 |
T |
C |
10: 77,618,061 (GRCm39) |
T106A |
unknown |
Het |
| Gm7356 |
T |
C |
17: 14,221,843 (GRCm39) |
N62S |
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,774,689 (GRCm39) |
T31A |
possibly damaging |
Het |
| H2-M10.1 |
T |
A |
17: 36,636,621 (GRCm39) |
D61V |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,972,122 (GRCm39) |
L716S |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,953,753 (GRCm39) |
Y831H |
probably damaging |
Het |
| Ifi202b |
C |
T |
1: 173,802,381 (GRCm39) |
S151N |
probably benign |
Het |
| Il15ra |
C |
T |
2: 11,723,192 (GRCm39) |
T72I |
probably damaging |
Het |
| Ints1 |
A |
G |
5: 139,750,829 (GRCm39) |
L858P |
probably damaging |
Het |
| Kat2a |
C |
T |
11: 100,601,726 (GRCm39) |
V230I |
possibly damaging |
Het |
| Kif26b |
C |
T |
1: 178,506,611 (GRCm39) |
T229I |
possibly damaging |
Het |
| Ly75 |
T |
A |
2: 60,160,337 (GRCm39) |
I957F |
probably damaging |
Het |
| Map3k12 |
T |
A |
15: 102,410,601 (GRCm39) |
R459W |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,205,155 (GRCm39) |
|
probably null |
Het |
| Mrgprf |
A |
G |
7: 144,861,206 (GRCm39) |
I53V |
unknown |
Het |
| Mttp |
A |
G |
3: 137,796,964 (GRCm39) |
L846P |
probably damaging |
Het |
| Myrip |
C |
T |
9: 120,246,207 (GRCm39) |
L112F |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,393,597 (GRCm39) |
F1047S |
probably damaging |
Het |
| Nfkbib |
T |
C |
7: 28,458,628 (GRCm39) |
D327G |
possibly damaging |
Het |
| Notch1 |
C |
T |
2: 26,366,387 (GRCm39) |
V776I |
probably benign |
Het |
| Obsl1 |
G |
T |
1: 75,466,161 (GRCm39) |
D1522E |
probably damaging |
Het |
| Or52s6 |
T |
A |
7: 103,091,995 (GRCm39) |
M112L |
probably benign |
Het |
| Or5b110-ps1 |
A |
T |
19: 13,259,517 (GRCm39) |
F302I |
unknown |
Het |
| Or7e168 |
T |
C |
9: 19,719,944 (GRCm39) |
M110T |
possibly damaging |
Het |
| Or9r3 |
T |
C |
10: 129,948,093 (GRCm39) |
K189E |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,281,838 (GRCm39) |
N471D |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,360,779 (GRCm39) |
H203R |
probably benign |
Het |
| Plch2 |
C |
A |
4: 155,082,929 (GRCm39) |
C573F |
probably damaging |
Het |
| Polr1a |
G |
A |
6: 71,918,440 (GRCm39) |
R666Q |
probably benign |
Het |
| Prepl |
T |
C |
17: 85,388,668 (GRCm39) |
N145S |
probably benign |
Het |
| Psen2 |
C |
T |
1: 180,066,521 (GRCm39) |
V139M |
probably benign |
Het |
| Ptgdr |
A |
T |
14: 45,096,649 (GRCm39) |
M21K |
possibly damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,582,065 (GRCm39) |
W1331R |
probably benign |
Het |
| Rp1l1 |
G |
A |
14: 64,269,747 (GRCm39) |
G1778S |
probably benign |
Het |
| Rrbp1 |
A |
T |
2: 143,811,382 (GRCm39) |
M824K |
probably benign |
Het |
| Sel1l |
T |
C |
12: 91,815,739 (GRCm39) |
T23A |
probably benign |
Het |
| Sele |
A |
G |
1: 163,881,437 (GRCm39) |
S515G |
possibly damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,381,822 (GRCm39) |
N421D |
probably damaging |
Het |
| Slc35f3 |
T |
G |
8: 127,121,297 (GRCm39) |
L386R |
probably benign |
Het |
| Stab2 |
G |
A |
10: 86,782,084 (GRCm39) |
S699L |
probably damaging |
Het |
| Synrg |
A |
T |
11: 83,900,207 (GRCm39) |
L726F |
probably damaging |
Het |
| Syt3 |
G |
A |
7: 44,045,343 (GRCm39) |
V528M |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,248,446 (GRCm39) |
I655T |
probably damaging |
Het |
| Tbr1 |
T |
C |
2: 61,642,600 (GRCm39) |
S622P |
probably damaging |
Het |
| Tex36 |
C |
T |
7: 133,188,952 (GRCm39) |
G207S |
probably benign |
Het |
| Trav5n-4 |
G |
A |
14: 53,550,399 (GRCm39) |
W13* |
probably null |
Het |
| Trdn |
A |
T |
10: 33,313,732 (GRCm39) |
E500V |
probably null |
Het |
| Ugt2b38 |
A |
T |
5: 87,559,754 (GRCm39) |
N379K |
probably damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,876 (GRCm39) |
R248G |
possibly damaging |
Het |
| Vmn1r195 |
C |
T |
13: 22,462,919 (GRCm39) |
L130F |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,794,471 (GRCm39) |
I733V |
probably benign |
Het |
| Zfp870 |
T |
A |
17: 33,102,828 (GRCm39) |
N167I |
probably damaging |
Het |
| Zmynd10 |
A |
T |
9: 107,426,503 (GRCm39) |
M179L |
probably benign |
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 |
|
R3826:Kcnq2
|
UTSW |
2 |
180,746,693 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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 |
|
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'- CCATTACCTGCAGAGATGGCAAG -3'
(R):5'- AAGATCGTGTCTTCTCCAGCC -3'
Sequencing Primer
(F):5'- GTGGTTTGTCTTACATGACATCAC -3'
(R):5'- GTCTTCTCCAGCCCCCGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation