Incidental Mutation 'R5055:Kcnq2'
| ID |
390753 |
| 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 |
042645-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5055 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
180717372-180777093 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 180728554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016491]
[ENSMUST00000049792]
[ENSMUST00000081528]
[ENSMUST00000103047]
[ENSMUST00000103048]
[ENSMUST00000103050]
[ENSMUST00000129695]
[ENSMUST00000103051]
[ENSMUST00000149964]
[ENSMUST00000197015]
|
| 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 |
probably benign
Transcript: ENSMUST00000103049
|
| SMART Domains |
Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346
| 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: ENSMUST00000103050
|
| SMART Domains |
Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
| 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: ENSMUST00000129695
|
| SMART Domains |
Protein: ENSMUSP00000123488
Gene: ENSMUSG00000016346
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
| 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: ENSMUST00000149964
|
| SMART Domains |
Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
| 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: ENSMUST00000197599
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (84/86) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
G |
A |
11: 46,013,996 (GRCm39) |
V329I |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,794,398 (GRCm39) |
A541E |
possibly damaging |
Het |
| Agbl1 |
A |
T |
7: 76,063,325 (GRCm39) |
I263F |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,930,519 (GRCm39) |
|
probably null |
Het |
| Bccip |
A |
G |
7: 133,316,652 (GRCm39) |
T91A |
probably benign |
Het |
| Bnc1 |
A |
T |
7: 81,624,163 (GRCm39) |
F355I |
probably damaging |
Het |
| Bpifa2 |
A |
T |
2: 153,855,630 (GRCm39) |
D185V |
probably damaging |
Het |
| Capn8 |
T |
A |
1: 182,399,526 (GRCm39) |
V89D |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,241,106 (GRCm39) |
M421K |
probably damaging |
Het |
| Chd2 |
A |
T |
7: 73,130,256 (GRCm39) |
L800M |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,077,949 (GRCm39) |
D137G |
possibly damaging |
Het |
| Crtap |
A |
G |
9: 114,219,208 (GRCm39) |
Y154H |
probably benign |
Het |
| Ctdp1 |
T |
A |
18: 80,499,303 (GRCm39) |
Q213L |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,344,164 (GRCm39) |
Y296C |
probably damaging |
Het |
| Daxx |
G |
T |
17: 34,131,134 (GRCm39) |
V354F |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,411,599 (GRCm39) |
I341T |
possibly damaging |
Het |
| Epha2 |
A |
G |
4: 141,036,380 (GRCm39) |
D272G |
probably benign |
Het |
| Etfa |
A |
G |
9: 55,407,417 (GRCm39) |
V24A |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,553,022 (GRCm39) |
G82W |
probably damaging |
Het |
| Fcamr |
G |
A |
1: 130,739,174 (GRCm39) |
C158Y |
probably damaging |
Het |
| Fyb1 |
A |
C |
15: 6,614,630 (GRCm39) |
|
probably benign |
Het |
| Gars1 |
G |
A |
6: 55,045,077 (GRCm39) |
R454H |
probably damaging |
Het |
| Ghsr |
T |
C |
3: 27,426,421 (GRCm39) |
V159A |
probably benign |
Het |
| Glp1r |
A |
T |
17: 31,137,861 (GRCm39) |
Q97H |
probably benign |
Het |
| Gm27047 |
T |
C |
6: 130,606,909 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv3-3 |
A |
C |
6: 70,664,223 (GRCm39) |
I22L |
probably benign |
Het |
| Inpp5b |
G |
T |
4: 124,636,824 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
C |
A |
1: 135,330,097 (GRCm39) |
E448* |
probably null |
Het |
| Itgb2l |
A |
T |
16: 96,229,003 (GRCm39) |
I400N |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,567,062 (GRCm39) |
H40Q |
probably damaging |
Het |
| Kcna7 |
G |
A |
7: 45,056,015 (GRCm39) |
R77H |
probably damaging |
Het |
| Klf7 |
T |
C |
1: 64,118,439 (GRCm39) |
T53A |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,729,649 (GRCm39) |
|
probably benign |
Het |
| Lrp10 |
C |
T |
14: 54,705,802 (GRCm39) |
R331C |
probably benign |
Het |
| Map4k5 |
A |
T |
12: 69,878,332 (GRCm39) |
D289E |
probably benign |
Het |
| Mfsd4b2 |
A |
T |
10: 39,799,773 (GRCm39) |
M43K |
possibly damaging |
Het |
| Msr1 |
T |
G |
8: 40,076,997 (GRCm39) |
R138S |
possibly damaging |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Myh9 |
G |
A |
15: 77,648,723 (GRCm39) |
A1711V |
probably benign |
Het |
| Myo18b |
A |
G |
5: 113,023,083 (GRCm39) |
|
probably benign |
Het |
| Nampt |
A |
T |
12: 32,883,120 (GRCm39) |
N102Y |
possibly damaging |
Het |
| Nell2 |
T |
C |
15: 95,371,460 (GRCm39) |
I92V |
probably benign |
Het |
| Nes |
A |
G |
3: 87,884,521 (GRCm39) |
N883D |
probably benign |
Het |
| Neurl3 |
T |
A |
1: 36,312,463 (GRCm39) |
|
probably benign |
Het |
| Ocln |
T |
A |
13: 100,675,930 (GRCm39) |
T188S |
probably benign |
Het |
| Or2ag20 |
T |
A |
7: 106,464,937 (GRCm39) |
M250K |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,585 (GRCm39) |
F147S |
probably benign |
Het |
| Parp14 |
T |
A |
16: 35,664,733 (GRCm39) |
Q1305L |
probably benign |
Het |
| Pde3a |
C |
T |
6: 141,433,682 (GRCm39) |
Q855* |
probably null |
Het |
| Pde4b |
T |
C |
4: 102,052,311 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,930,242 (GRCm39) |
M65V |
probably benign |
Het |
| Phf21a |
T |
C |
2: 92,182,201 (GRCm39) |
S377P |
probably damaging |
Het |
| Plcb2 |
T |
A |
2: 118,548,703 (GRCm39) |
T408S |
probably benign |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Ppp6r2 |
A |
G |
15: 89,167,152 (GRCm39) |
D789G |
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,419,719 (GRCm39) |
M897V |
possibly damaging |
Het |
| Prss57 |
A |
G |
10: 79,620,178 (GRCm39) |
|
probably null |
Het |
| Psd |
G |
T |
19: 46,310,907 (GRCm39) |
L381I |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,370,540 (GRCm39) |
D2050E |
probably benign |
Het |
| Rfc1 |
G |
T |
5: 65,423,505 (GRCm39) |
N1034K |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,661,504 (GRCm39) |
G1829S |
probably benign |
Het |
| Scaper |
T |
C |
9: 55,767,003 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
G |
9: 119,351,632 (GRCm39) |
I783T |
probably damaging |
Het |
| Slc28a1 |
A |
G |
7: 80,818,796 (GRCm39) |
N583S |
possibly damaging |
Het |
| Slc35e3 |
C |
T |
10: 117,580,884 (GRCm39) |
G140D |
probably damaging |
Het |
| Slc6a9 |
G |
A |
4: 117,725,347 (GRCm39) |
|
probably null |
Het |
| Sptlc1 |
A |
G |
13: 53,496,218 (GRCm39) |
S376P |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,441,729 (GRCm39) |
C1913Y |
probably damaging |
Het |
| Taar7b |
A |
T |
10: 23,876,845 (GRCm39) |
I337F |
possibly damaging |
Het |
| Tdpoz2 |
T |
A |
3: 93,559,235 (GRCm39) |
I246F |
probably damaging |
Het |
| Trpa1 |
C |
T |
1: 14,946,183 (GRCm39) |
V983M |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,626,521 (GRCm39) |
M1112K |
probably benign |
Het |
| Tsbp1 |
G |
A |
17: 34,667,770 (GRCm39) |
C154Y |
possibly damaging |
Het |
| Uso1 |
A |
T |
5: 92,340,594 (GRCm39) |
K670I |
probably benign |
Het |
| Washc4 |
A |
G |
10: 83,392,771 (GRCm39) |
D257G |
probably damaging |
Het |
| Wdr41 |
T |
A |
13: 95,151,725 (GRCm39) |
|
probably null |
Het |
| Zbtb17 |
A |
G |
4: 141,193,860 (GRCm39) |
Q668R |
possibly 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 |
|
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 |
|
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'- ACAGAAGCCCTATTTTCATCTTGTCAC -3'
(R):5'- TCCAGTCTGGGCATGAACAG -3'
Sequencing Primer
(F):5'- GCACATGCTGCTTCATGC -3'
(R):5'- ATGAACAGGGCCCTCCG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation