Incidental Mutation 'R2105:Kcnq2'
ID |
230846 |
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 |
040109-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2105 (G1)
|
Quality Score |
194 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
180717372-180777093 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 180723145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 628
(C628R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016491]
[ENSMUST00000049792]
[ENSMUST00000081528]
[ENSMUST00000103047]
[ENSMUST00000103048]
[ENSMUST00000149964]
[ENSMUST00000197015]
[ENSMUST00000129695]
[ENSMUST00000103051]
[ENSMUST00000103050]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016491
|
SMART Domains |
Protein: ENSMUSP00000016491 Gene: ENSMUSG00000016346
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 |
probably benign
Transcript: ENSMUST00000049792
|
SMART Domains |
Protein: ENSMUSP00000052453 Gene: ENSMUSG00000016346
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
|
SMART Domains |
Protein: ENSMUSP00000080243 Gene: ENSMUSG00000016346
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
|
SMART Domains |
Protein: ENSMUSP00000099336 Gene: ENSMUSG00000016346
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
|
SMART Domains |
Protein: ENSMUSP00000099337 Gene: ENSMUSG00000016346
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: C696R
|
SMART Domains |
Protein: ENSMUSP00000099338 Gene: ENSMUSG00000016346 AA Change: C696R
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 |
probably benign
Transcript: ENSMUST00000149964
AA Change: C772R
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000122915 Gene: ENSMUSG00000016346 AA Change: C772R
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 |
probably benign
Transcript: ENSMUST00000197015
AA Change: C744R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000143263 Gene: ENSMUSG00000016346 AA Change: C744R
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: ENSMUST00000129695
AA Change: C628R
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000123488 Gene: ENSMUSG00000016346 AA Change: C628R
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 |
probably benign
Transcript: ENSMUST00000103051
AA Change: C754R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099340 Gene: ENSMUSG00000016346 AA Change: C754R
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 |
unknown
Transcript: ENSMUST00000103050
AA Change: C741R
|
SMART Domains |
Protein: ENSMUSP00000099339 Gene: ENSMUSG00000016346 AA Change: C741R
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 |
noncoding transcript
Transcript: ENSMUST00000145861
|
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 |
noncoding transcript
Transcript: ENSMUST00000152099
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197599
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
T |
6: 121,650,459 (GRCm39) |
P1189L |
probably benign |
Het |
Acbd4 |
G |
A |
11: 102,995,265 (GRCm39) |
D57N |
probably damaging |
Het |
Acot4 |
A |
T |
12: 84,085,516 (GRCm39) |
M78L |
probably damaging |
Het |
Ago1 |
A |
T |
4: 126,355,581 (GRCm39) |
M76K |
probably benign |
Het |
Agrn |
G |
T |
4: 156,261,756 (GRCm39) |
Y511* |
probably null |
Het |
Arhgef15 |
A |
T |
11: 68,838,507 (GRCm39) |
|
probably null |
Het |
Atp1a3 |
A |
T |
7: 24,689,278 (GRCm39) |
M594K |
probably damaging |
Het |
Atp4a |
G |
A |
7: 30,419,793 (GRCm39) |
|
probably null |
Het |
Bckdk |
T |
A |
7: 127,506,489 (GRCm39) |
I272N |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,989,622 (GRCm39) |
V367A |
probably benign |
Het |
C1galt1c1 |
T |
C |
X: 37,720,145 (GRCm39) |
M284V |
possibly damaging |
Het |
Cenpk |
T |
A |
13: 104,366,105 (GRCm39) |
C4* |
probably null |
Het |
Cfap53 |
T |
C |
18: 74,416,294 (GRCm39) |
V9A |
possibly damaging |
Het |
Chil3 |
T |
C |
3: 106,067,794 (GRCm39) |
I124V |
possibly damaging |
Het |
Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
Cyp2c67 |
T |
C |
19: 39,614,681 (GRCm39) |
Y282C |
probably benign |
Het |
D5Ertd579e |
C |
T |
5: 36,770,793 (GRCm39) |
A1201T |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,742,988 (GRCm39) |
H381R |
probably benign |
Het |
Drc1 |
C |
T |
5: 30,513,785 (GRCm39) |
S447F |
probably benign |
Het |
Fam83g |
G |
T |
11: 61,594,284 (GRCm39) |
R606L |
probably benign |
Het |
Fmnl1 |
A |
C |
11: 103,085,518 (GRCm39) |
S688R |
probably benign |
Het |
Fryl |
C |
T |
5: 73,279,642 (GRCm39) |
V219I |
probably benign |
Het |
Golgb1 |
T |
A |
16: 36,735,026 (GRCm39) |
N1424K |
probably benign |
Het |
Gpr39 |
T |
C |
1: 125,605,621 (GRCm39) |
V183A |
possibly damaging |
Het |
H2-T22 |
A |
T |
17: 36,351,409 (GRCm39) |
Y274N |
probably benign |
Het |
Hif1a |
T |
A |
12: 73,984,519 (GRCm39) |
Y313N |
probably damaging |
Het |
Hip1r |
T |
A |
5: 124,138,267 (GRCm39) |
M787K |
probably damaging |
Het |
Hipk3 |
T |
C |
2: 104,269,737 (GRCm39) |
E484G |
probably damaging |
Het |
Hsh2d |
T |
A |
8: 72,954,490 (GRCm39) |
F291I |
probably benign |
Het |
Ino80 |
T |
C |
2: 119,262,410 (GRCm39) |
E692G |
probably null |
Het |
Itgam |
T |
A |
7: 127,680,884 (GRCm39) |
V271D |
probably damaging |
Het |
Kansl1 |
A |
C |
11: 104,226,385 (GRCm39) |
I924S |
probably damaging |
Het |
Krt78 |
A |
C |
15: 101,855,849 (GRCm39) |
V654G |
possibly damaging |
Het |
Lrit2 |
A |
G |
14: 36,793,913 (GRCm39) |
T326A |
probably damaging |
Het |
Ltk |
T |
C |
2: 119,582,569 (GRCm39) |
E710G |
probably damaging |
Het |
Lysmd1 |
T |
C |
3: 95,042,285 (GRCm39) |
L53S |
probably damaging |
Het |
Mc4r |
T |
C |
18: 66,992,669 (GRCm39) |
Y148C |
probably damaging |
Het |
Mfn2 |
G |
A |
4: 147,973,162 (GRCm39) |
Q172* |
probably null |
Het |
Mknk2 |
A |
G |
10: 80,504,435 (GRCm39) |
L242P |
possibly damaging |
Het |
Mrpl45 |
A |
T |
11: 97,216,573 (GRCm39) |
H167L |
probably benign |
Het |
Myc |
T |
C |
15: 61,859,951 (GRCm39) |
V208A |
probably damaging |
Het |
Myh7b |
A |
G |
2: 155,471,377 (GRCm39) |
E1175G |
probably benign |
Het |
Myo18a |
A |
T |
11: 77,741,060 (GRCm39) |
M1456L |
probably benign |
Het |
Myocd |
G |
A |
11: 65,109,484 (GRCm39) |
Q96* |
probably null |
Het |
Nckap5 |
T |
A |
1: 125,954,255 (GRCm39) |
I766F |
probably damaging |
Het |
Ndst1 |
T |
C |
18: 60,824,325 (GRCm39) |
E784G |
probably benign |
Het |
Nf1 |
A |
T |
11: 79,360,652 (GRCm39) |
R1443S |
possibly damaging |
Het |
Nhlrc3 |
A |
G |
3: 53,361,072 (GRCm39) |
W228R |
probably damaging |
Het |
Nup107 |
G |
A |
10: 117,609,225 (GRCm39) |
T378I |
probably damaging |
Het |
Or14c40 |
A |
T |
7: 86,313,591 (GRCm39) |
K240N |
probably damaging |
Het |
Or1o3 |
A |
T |
17: 37,573,964 (GRCm39) |
M197K |
probably benign |
Het |
Or52d13 |
T |
A |
7: 103,109,480 (GRCm39) |
|
probably null |
Het |
Or5m3b |
C |
T |
2: 85,871,674 (GRCm39) |
T5I |
probably damaging |
Het |
Or5w11 |
A |
G |
2: 87,459,283 (GRCm39) |
T159A |
probably benign |
Het |
Or6b13 |
T |
A |
7: 139,782,656 (GRCm39) |
D9V |
probably benign |
Het |
Otop1 |
A |
G |
5: 38,457,801 (GRCm39) |
D520G |
probably benign |
Het |
Papln |
C |
T |
12: 83,827,010 (GRCm39) |
P712S |
probably benign |
Het |
Pcbd2 |
T |
A |
13: 55,880,846 (GRCm39) |
I34N |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,374,205 (GRCm39) |
C29* |
probably null |
Het |
Pou5f1 |
G |
A |
17: 35,820,899 (GRCm39) |
V114M |
probably benign |
Het |
Pramel28 |
A |
T |
4: 143,692,390 (GRCm39) |
Y204N |
probably benign |
Het |
Prpf4b |
C |
A |
13: 35,068,214 (GRCm39) |
|
probably benign |
Het |
Prr23a1 |
C |
T |
9: 98,724,709 (GRCm39) |
P24S |
probably damaging |
Het |
Ptch1 |
T |
A |
13: 63,693,059 (GRCm39) |
M65L |
probably benign |
Het |
Rc3h2 |
A |
T |
2: 37,289,636 (GRCm39) |
I392K |
possibly damaging |
Het |
Reck |
G |
T |
4: 43,943,195 (GRCm39) |
D916Y |
probably damaging |
Het |
Rtf2 |
A |
G |
2: 172,287,285 (GRCm39) |
D68G |
probably damaging |
Het |
Ryr1 |
G |
T |
7: 28,789,575 (GRCm39) |
T1513K |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,410,890 (GRCm39) |
D55G |
possibly damaging |
Het |
Scn9a |
A |
G |
2: 66,398,527 (GRCm39) |
S28P |
probably benign |
Het |
Scrn3 |
A |
G |
2: 73,160,196 (GRCm39) |
M280V |
probably damaging |
Het |
Snx29 |
C |
T |
16: 11,328,898 (GRCm39) |
T559I |
possibly damaging |
Het |
Spn |
C |
T |
7: 126,735,413 (GRCm39) |
E109K |
probably damaging |
Het |
Sra1 |
C |
T |
18: 36,808,121 (GRCm39) |
R369H |
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,724,982 (GRCm39) |
A64T |
probably damaging |
Het |
Stk17b |
A |
G |
1: 53,815,764 (GRCm39) |
S12P |
probably benign |
Het |
Sult1d1 |
C |
A |
5: 87,707,661 (GRCm39) |
G153V |
probably damaging |
Het |
Sycp2 |
A |
T |
2: 177,991,931 (GRCm39) |
|
probably null |
Het |
Tgfb3 |
T |
C |
12: 86,116,543 (GRCm39) |
E165G |
possibly damaging |
Het |
Tns2 |
C |
A |
15: 102,015,941 (GRCm39) |
H160N |
probably benign |
Het |
Ubn1 |
T |
A |
16: 4,895,088 (GRCm39) |
C711* |
probably null |
Het |
Usp13 |
A |
T |
3: 32,956,135 (GRCm39) |
D469V |
probably damaging |
Het |
Vmn1r231 |
A |
T |
17: 21,110,380 (GRCm39) |
H178Q |
possibly damaging |
Het |
Vwa1 |
A |
G |
4: 155,857,250 (GRCm39) |
S183P |
probably damaging |
Het |
Xpo7 |
A |
G |
14: 70,928,431 (GRCm39) |
I424T |
probably benign |
Het |
Zfp109 |
A |
G |
7: 23,936,041 (GRCm39) |
|
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 |
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 |
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'- AATGTAGGGCCTGACCTTGG -3'
(R):5'- ATCATTAAGATCGTCCGCTCCAC -3'
Sequencing Primer
(F):5'- CTGACCTTGGCGCATGGTG -3'
(R):5'- TCTACGGGCCAGAGGAACTAC -3'
|
Posted On |
2014-09-18 |