Incidental Mutation 'R4938:Kcnq2'
| ID |
382823 |
| 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 |
042537-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4938 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180717372-180777093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 180728766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 548
(S548P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016491]
[ENSMUST00000049792]
[ENSMUST00000081528]
[ENSMUST00000103047]
[ENSMUST00000103048]
[ENSMUST00000103050]
[ENSMUST00000149964]
[ENSMUST00000129695]
[ENSMUST00000103051]
[ENSMUST00000197015]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016491
AA Change: S560P
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346
AA Change: S560P
| 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: S560P
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346
AA Change: S560P
| 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: S560P
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346
AA Change: S560P
| 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 damaging
Transcript: ENSMUST00000103047
AA Change: S548P
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346
AA Change: S548P
| 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: S560P
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346
AA Change: S560P
| 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: S512P
|
| SMART Domains |
Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
AA Change: S512P
| 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: S557P
|
| SMART Domains |
Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
AA Change: S557P
| 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: 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: ENSMUST00000145861
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149964
AA Change: S588P
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
AA Change: S588P
| 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: ENSMUST00000129695
AA Change: S444P
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123488
Gene: ENSMUSG00000016346
AA Change: S444P
| 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: ENSMUST00000103051
AA Change: S570P
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
AA Change: S570P
| 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: ENSMUST00000152099
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197015
AA Change: S560P
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
AA Change: S560P
| 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: S266P
|
| Meta Mutation Damage Score |
0.3530 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
99% (74/75) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl14ep |
G |
T |
2: 106,799,663 (GRCm39) |
H59Q |
probably damaging |
Het |
| Atp6v0a4 |
T |
A |
6: 38,055,749 (GRCm39) |
I321F |
possibly damaging |
Het |
| Cdr2l |
A |
G |
11: 115,284,651 (GRCm39) |
D329G |
possibly damaging |
Het |
| Cep55 |
A |
G |
19: 38,058,364 (GRCm39) |
E319G |
probably damaging |
Het |
| Cfhr2 |
C |
T |
1: 139,741,265 (GRCm39) |
V237I |
probably benign |
Het |
| Clasrp |
A |
G |
7: 19,318,703 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
C |
A |
9: 79,607,632 (GRCm39) |
E399* |
probably null |
Het |
| Cyp19a1 |
T |
A |
9: 54,080,647 (GRCm39) |
I237F |
probably benign |
Het |
| Dnajc6 |
T |
G |
4: 101,494,010 (GRCm39) |
N847K |
probably damaging |
Het |
| E330013P04Rik |
C |
G |
19: 60,150,453 (GRCm39) |
|
noncoding transcript |
Het |
| Entpd2 |
A |
G |
2: 25,289,429 (GRCm39) |
T304A |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,803,460 (GRCm39) |
T779A |
probably benign |
Het |
| Fam107b |
A |
T |
2: 3,773,907 (GRCm39) |
I35L |
probably benign |
Het |
| Fgg |
A |
T |
3: 82,920,175 (GRCm39) |
Y318F |
probably benign |
Het |
| Fitm1 |
A |
C |
14: 55,814,076 (GRCm39) |
T191P |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,924,583 (GRCm39) |
M3675V |
probably damaging |
Het |
| Fry |
C |
T |
5: 150,401,454 (GRCm39) |
R731W |
probably damaging |
Het |
| Galnt17 |
A |
T |
5: 131,335,237 (GRCm39) |
S68T |
probably benign |
Het |
| Glp2r |
G |
T |
11: 67,648,419 (GRCm39) |
Y94* |
probably null |
Het |
| Grm1 |
C |
T |
10: 10,812,257 (GRCm39) |
A256T |
probably damaging |
Het |
| Hoxd13 |
A |
G |
2: 74,499,027 (GRCm39) |
Y125C |
probably benign |
Het |
| Hspa14 |
A |
T |
2: 3,492,646 (GRCm39) |
I373K |
probably benign |
Het |
| Ifnlr1 |
A |
G |
4: 135,432,593 (GRCm39) |
E343G |
probably benign |
Het |
| Ighv5-9 |
A |
G |
12: 113,625,582 (GRCm39) |
S54P |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,231 (GRCm39) |
G91E |
probably damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,928,892 (GRCm39) |
S594P |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,302,712 (GRCm39) |
R3006W |
probably damaging |
Het |
| Lrrc4c |
A |
T |
2: 97,459,646 (GRCm39) |
I91F |
probably damaging |
Het |
| Mdh1b |
T |
C |
1: 63,750,663 (GRCm39) |
D435G |
probably benign |
Het |
| Mettl3 |
A |
T |
14: 52,537,184 (GRCm39) |
S182T |
probably damaging |
Het |
| Mllt6 |
A |
G |
11: 97,569,233 (GRCm39) |
T862A |
probably benign |
Het |
| Mmp27 |
G |
T |
9: 7,578,983 (GRCm39) |
R412I |
probably damaging |
Het |
| Mstn |
A |
G |
1: 53,105,582 (GRCm39) |
N308S |
possibly damaging |
Het |
| Ncapg |
A |
G |
5: 45,828,551 (GRCm39) |
T101A |
probably benign |
Het |
| Ngf |
C |
T |
3: 102,427,790 (GRCm39) |
R180W |
probably damaging |
Het |
| Notch1 |
G |
A |
2: 26,364,136 (GRCm39) |
Q862* |
probably null |
Het |
| Nsrp1 |
T |
C |
11: 76,936,570 (GRCm39) |
D542G |
probably damaging |
Het |
| Nup214 |
C |
A |
2: 31,873,171 (GRCm39) |
T255K |
probably benign |
Het |
| Or5b21 |
T |
A |
19: 12,839,916 (GRCm39) |
M259K |
probably damaging |
Het |
| Or8b43 |
T |
A |
9: 38,360,679 (GRCm39) |
D170E |
probably benign |
Het |
| Papln |
C |
T |
12: 83,829,677 (GRCm39) |
P911S |
probably benign |
Het |
| Pdxdc1 |
A |
G |
16: 13,693,933 (GRCm39) |
V163A |
probably benign |
Het |
| Plekhj1 |
A |
T |
10: 80,633,609 (GRCm39) |
I76N |
probably damaging |
Het |
| Pnp2 |
A |
G |
14: 51,201,025 (GRCm39) |
|
probably null |
Het |
| Polr3gl |
T |
C |
3: 96,487,208 (GRCm39) |
E89G |
probably benign |
Het |
| Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
| Prss37 |
A |
G |
6: 40,491,917 (GRCm39) |
I221T |
possibly damaging |
Het |
| Ptx4 |
C |
T |
17: 25,342,139 (GRCm39) |
Q205* |
probably null |
Het |
| Qsox1 |
T |
C |
1: 155,655,414 (GRCm39) |
E583G |
probably benign |
Het |
| Riok3 |
T |
A |
18: 12,288,300 (GRCm39) |
N492K |
probably benign |
Het |
| Sec13 |
A |
G |
6: 113,712,153 (GRCm39) |
W61R |
probably damaging |
Het |
| Slc20a2 |
T |
C |
8: 23,051,221 (GRCm39) |
V418A |
possibly damaging |
Het |
| Smad9 |
G |
A |
3: 54,696,651 (GRCm39) |
V239I |
probably benign |
Het |
| Stmn2 |
A |
G |
3: 8,610,792 (GRCm39) |
E92G |
probably damaging |
Het |
| Taf1c |
A |
G |
8: 120,325,537 (GRCm39) |
V775A |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,330,991 (GRCm39) |
I1384L |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,932,606 (GRCm39) |
Y2275C |
probably damaging |
Het |
| Trmo |
G |
T |
4: 46,382,388 (GRCm39) |
T243N |
probably benign |
Het |
| Tyrp1 |
C |
T |
4: 80,758,883 (GRCm39) |
A252V |
probably damaging |
Het |
| Vasp |
T |
C |
7: 18,991,642 (GRCm39) |
*376W |
probably null |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,613 (GRCm39) |
I101V |
possibly damaging |
Het |
| Zfp532 |
T |
C |
18: 65,756,837 (GRCm39) |
S257P |
probably benign |
Het |
| Zfp563 |
G |
A |
17: 33,324,683 (GRCm39) |
C426Y |
probably damaging |
Het |
| Zfp647 |
TGCACG |
TGCACGCACG |
15: 76,795,244 (GRCm39) |
|
probably null |
Het |
| Zfp703 |
C |
A |
8: 27,469,801 (GRCm39) |
H488Q |
probably damaging |
Het |
| Zfp964 |
A |
G |
8: 70,116,758 (GRCm39) |
N452D |
possibly damaging |
Het |
| Zfyve28 |
A |
C |
5: 34,390,698 (GRCm39) |
Y188D |
probably damaging |
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 |
|
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'- GGACACGCACATAGACTTGC -3'
(R):5'- AGAGTAACCTCTGTCTGGAACTC -3'
Sequencing Primer
(F):5'- AGACTTGCTACCACAGTGTG -3'
(R):5'- GTAACCTCTGTCTGGAACTCATGATC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation