Incidental Mutation 'R0240:Scn2a'
| ID |
59281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scn2a
|
| Ensembl Gene |
ENSMUSG00000075318 |
| Gene Name |
sodium channel, voltage-gated, type II, alpha |
| Synonyms |
A230052E19Rik, Nav1.2, Scn2a1 |
| MMRRC Submission |
038478-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0240 (G1)
|
| Quality Score |
168 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
65451115-65597791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 65566118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 1381
(V1381F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028377]
[ENSMUST00000100067]
[ENSMUST00000200829]
|
| AlphaFold |
B1AWN6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028377
AA Change: V1381F
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028377
Gene: ENSMUSG00000075318
AA Change: V1381F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
128 |
436 |
2.2e-81 |
PFAM |
|
low complexity region
|
450 |
471 |
N/A |
INTRINSIC |
|
Pfam:Na_trans_cytopl
|
505 |
710 |
9.6e-83 |
PFAM |
|
Pfam:Ion_trans
|
759 |
994 |
3.6e-57 |
PFAM |
|
Pfam:Na_trans_assoc
|
998 |
1204 |
1.7e-63 |
PFAM |
|
Pfam:Ion_trans
|
1208 |
1484 |
3.3e-66 |
PFAM |
|
Pfam:Ion_trans
|
1531 |
1788 |
2.8e-57 |
PFAM |
|
Pfam:PKD_channel
|
1627 |
1782 |
8.6e-7 |
PFAM |
|
IQ
|
1905 |
1927 |
3.59e-3 |
SMART |
|
low complexity region
|
1967 |
1975 |
N/A |
INTRINSIC |
|
low complexity region
|
1981 |
2000 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100067
AA Change: V1381F
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000097645
Gene: ENSMUSG00000075318
AA Change: V1381F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
157 |
424 |
3.3e-75 |
PFAM |
|
low complexity region
|
433 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
471 |
N/A |
INTRINSIC |
|
Pfam:DUF3451
|
488 |
711 |
2.6e-66 |
PFAM |
|
Pfam:Ion_trans
|
794 |
983 |
1.1e-47 |
PFAM |
|
Pfam:Na_trans_assoc
|
998 |
1219 |
3.5e-77 |
PFAM |
|
Pfam:Ion_trans
|
1245 |
1473 |
4.4e-55 |
PFAM |
|
PDB:1BYY|A
|
1475 |
1527 |
3e-31 |
PDB |
|
Pfam:Ion_trans
|
1566 |
1776 |
2.4e-52 |
PFAM |
|
Pfam:PKD_channel
|
1628 |
1783 |
3.6e-7 |
PFAM |
|
IQ
|
1905 |
1927 |
3.59e-3 |
SMART |
|
low complexity region
|
1967 |
1975 |
N/A |
INTRINSIC |
|
low complexity region
|
1981 |
2000 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200829
AA Change: V1381F
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143882
Gene: ENSMUSG00000075318
AA Change: V1381F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
128 |
436 |
1.2e-79 |
PFAM |
|
low complexity region
|
450 |
471 |
N/A |
INTRINSIC |
|
Pfam:Na_trans_cytopl
|
505 |
710 |
7.1e-80 |
PFAM |
|
Pfam:Ion_trans
|
759 |
994 |
2.1e-55 |
PFAM |
|
Pfam:Na_trans_assoc
|
998 |
1204 |
8e-61 |
PFAM |
|
Pfam:Ion_trans
|
1208 |
1484 |
1.9e-64 |
PFAM |
|
Pfam:Ion_trans
|
1531 |
1788 |
1.6e-55 |
PFAM |
|
Pfam:PKD_channel
|
1627 |
1782 |
1.2e-4 |
PFAM |
|
IQ
|
1905 |
1927 |
1.8e-5 |
SMART |
|
low complexity region
|
1967 |
1975 |
N/A |
INTRINSIC |
|
low complexity region
|
1981 |
2000 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1801 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
100% (112/112) |
| MGI Phenotype |
FUNCTION: Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. In humans, variants of this gene are associated with seizure disorders and autism spectrum disorder. Mice homozygous for a knockout mutation die with severe hypoxia and extensive neuronal cell death, while gain of function mutations result in progressive seizure disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygotes for a targeted mutation exhibit excess neuronal apoptosis (especially in the brainstem), reduced neuronal sodium channel currents in vitro, and severe hypoxia resulting in neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
T |
C |
8: 123,506,920 (GRCm39) |
L71P |
probably damaging |
Het |
| Adamts2 |
A |
T |
11: 50,666,201 (GRCm39) |
D399V |
probably damaging |
Het |
| Adck2 |
T |
A |
6: 39,560,752 (GRCm39) |
V380E |
probably benign |
Het |
| Alg11 |
T |
A |
8: 22,555,468 (GRCm39) |
V243D |
possibly damaging |
Het |
| Ankrd27 |
T |
A |
7: 35,318,864 (GRCm39) |
L585Q |
probably damaging |
Het |
| Armh4 |
A |
G |
14: 50,005,859 (GRCm39) |
|
probably benign |
Het |
| Atp7a |
T |
A |
X: 105,153,447 (GRCm39) |
N1117K |
probably damaging |
Het |
| Bltp3a |
T |
A |
17: 28,114,844 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
G |
A |
2: 24,528,669 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
T |
A |
14: 29,818,926 (GRCm39) |
M1210L |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,001,234 (GRCm39) |
|
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,852,670 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,559,315 (GRCm39) |
S1858T |
probably benign |
Het |
| Cotl1 |
C |
T |
8: 120,567,063 (GRCm39) |
W26* |
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,492,635 (GRCm39) |
T3000A |
probably benign |
Het |
| Dcp1a |
T |
A |
14: 30,206,551 (GRCm39) |
|
probably benign |
Het |
| Ddhd2 |
A |
T |
8: 26,229,617 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
C |
17: 30,984,653 (GRCm39) |
I3117T |
probably damaging |
Het |
| Dnm3 |
G |
T |
1: 162,181,194 (GRCm39) |
Q162K |
probably benign |
Het |
| Dpy19l2 |
G |
T |
9: 24,569,876 (GRCm39) |
A359D |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,676,746 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,897,873 (GRCm39) |
K1025R |
probably damaging |
Het |
| Eml2 |
C |
A |
7: 18,918,797 (GRCm39) |
Y82* |
probably null |
Het |
| Eml6 |
A |
G |
11: 29,742,367 (GRCm39) |
V1057A |
possibly damaging |
Het |
| Eral1 |
A |
G |
11: 77,966,884 (GRCm39) |
|
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,220,976 (GRCm39) |
S911P |
probably benign |
Het |
| Fbxo8 |
A |
G |
8: 57,043,296 (GRCm39) |
|
probably benign |
Het |
| Flrt1 |
A |
T |
19: 7,074,475 (GRCm39) |
|
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,766,235 (GRCm39) |
|
probably benign |
Het |
| G3bp1 |
G |
A |
11: 55,382,854 (GRCm39) |
G139D |
probably damaging |
Het |
| Gabra6 |
C |
T |
11: 42,205,774 (GRCm39) |
V351I |
probably benign |
Het |
| Galc |
A |
T |
12: 98,218,293 (GRCm39) |
H186Q |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,890,177 (GRCm39) |
D702G |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,010,085 (GRCm39) |
E291G |
possibly damaging |
Het |
| Hectd3 |
T |
G |
4: 116,859,810 (GRCm39) |
V749G |
probably damaging |
Het |
| Kash5 |
C |
T |
7: 44,849,675 (GRCm39) |
A83T |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,187,648 (GRCm39) |
I703N |
probably benign |
Het |
| Kcnma1 |
G |
A |
14: 23,544,647 (GRCm39) |
T505I |
probably damaging |
Het |
| Kctd11 |
A |
G |
11: 69,770,640 (GRCm39) |
C133R |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,672,880 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
T |
C |
1: 193,017,335 (GRCm39) |
L842P |
probably damaging |
Het |
| Ldlr |
T |
C |
9: 21,649,295 (GRCm39) |
|
probably benign |
Het |
| Lipk |
G |
A |
19: 34,024,210 (GRCm39) |
R336H |
probably benign |
Het |
| Lrrc24 |
T |
A |
15: 76,607,409 (GRCm39) |
D58V |
probably damaging |
Het |
| Lrsam1 |
A |
G |
2: 32,845,197 (GRCm39) |
L106P |
probably damaging |
Het |
| Milr1 |
G |
A |
11: 106,645,722 (GRCm39) |
W88* |
probably null |
Het |
| Mmp10 |
A |
G |
9: 7,506,544 (GRCm39) |
D340G |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,391,600 (GRCm39) |
Y285F |
possibly damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,896,320 (GRCm39) |
T408A |
probably benign |
Het |
| Nefm |
T |
A |
14: 68,358,583 (GRCm39) |
K484* |
probably null |
Het |
| Nfasc |
A |
G |
1: 132,529,721 (GRCm39) |
S814P |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,161,941 (GRCm39) |
V863A |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,005,948 (GRCm39) |
P223S |
probably benign |
Het |
| Nr2f2 |
G |
C |
7: 70,009,923 (GRCm39) |
P52R |
probably damaging |
Het |
| Or13c7 |
T |
A |
4: 43,854,512 (GRCm39) |
S68T |
probably damaging |
Het |
| Or4c108 |
A |
T |
2: 88,803,740 (GRCm39) |
L165Q |
probably damaging |
Het |
| Or5an6 |
A |
T |
19: 12,372,327 (GRCm39) |
E233D |
probably benign |
Het |
| Or8k41 |
A |
G |
2: 86,313,730 (GRCm39) |
S119P |
possibly damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,295,406 (GRCm39) |
|
probably null |
Het |
| Otog |
C |
A |
7: 45,913,456 (GRCm39) |
|
probably null |
Het |
| Pacs1 |
A |
T |
19: 5,206,402 (GRCm39) |
I261N |
possibly damaging |
Het |
| Pbx1 |
G |
A |
1: 168,031,051 (GRCm39) |
T189I |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,993,792 (GRCm39) |
I908T |
possibly damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,697,309 (GRCm39) |
W124R |
probably damaging |
Het |
| Phex |
C |
A |
X: 155,969,214 (GRCm39) |
D587Y |
probably damaging |
Het |
| Plcb3 |
A |
T |
19: 6,940,363 (GRCm39) |
D435E |
probably benign |
Het |
| Plce1 |
A |
C |
19: 38,717,330 (GRCm39) |
K1373T |
probably damaging |
Het |
| Prkcd |
G |
A |
14: 30,324,045 (GRCm39) |
A311V |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,232,374 (GRCm39) |
S421T |
probably benign |
Het |
| Ptprs |
T |
C |
17: 56,743,087 (GRCm39) |
|
probably null |
Het |
| Qrich1 |
A |
G |
9: 108,411,333 (GRCm39) |
D286G |
probably damaging |
Het |
| Rcc1 |
C |
A |
4: 132,060,226 (GRCm39) |
G393V |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,311,043 (GRCm39) |
N290S |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,430,175 (GRCm39) |
|
probably benign |
Het |
| Rhpn1 |
C |
T |
15: 75,585,971 (GRCm39) |
T628I |
probably benign |
Het |
| Rilp |
A |
G |
11: 75,401,747 (GRCm39) |
R176G |
probably benign |
Het |
| Riok3 |
C |
T |
18: 12,288,284 (GRCm39) |
A487V |
probably benign |
Het |
| Rnf224 |
T |
C |
2: 25,126,219 (GRCm39) |
T45A |
probably damaging |
Het |
| Rpa1 |
A |
G |
11: 75,219,513 (GRCm39) |
V137A |
probably benign |
Het |
| Rps6ka1 |
C |
A |
4: 133,575,842 (GRCm39) |
Q693H |
probably benign |
Het |
| Scp2 |
T |
A |
4: 107,955,275 (GRCm39) |
H112L |
probably benign |
Het |
| Sdk1 |
T |
C |
5: 141,984,502 (GRCm39) |
W696R |
probably damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,532,651 (GRCm39) |
V408F |
probably damaging |
Het |
| Slc28a2 |
T |
A |
2: 122,285,008 (GRCm39) |
I332N |
probably benign |
Het |
| Slc37a3 |
A |
G |
6: 39,314,172 (GRCm39) |
V480A |
probably benign |
Het |
| Slc45a4 |
T |
A |
15: 73,453,755 (GRCm39) |
E674D |
probably benign |
Het |
| Smpd3 |
T |
C |
8: 106,991,788 (GRCm39) |
E255G |
probably damaging |
Het |
| Snx29 |
C |
T |
16: 11,478,417 (GRCm39) |
R658W |
probably damaging |
Het |
| Sppl2a |
A |
T |
2: 126,762,256 (GRCm39) |
M275K |
probably benign |
Het |
| Stac |
T |
C |
9: 111,464,089 (GRCm39) |
N59S |
probably damaging |
Het |
| Stk25 |
A |
T |
1: 93,554,782 (GRCm39) |
L131Q |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,100,486 (GRCm39) |
|
probably benign |
Het |
| Thbs1 |
C |
A |
2: 117,944,874 (GRCm39) |
N229K |
probably damaging |
Het |
| Tmx2 |
A |
T |
2: 84,506,186 (GRCm39) |
H89Q |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tradd |
T |
C |
8: 105,985,924 (GRCm39) |
N209S |
possibly damaging |
Het |
| Trappc3l |
A |
T |
10: 33,974,928 (GRCm39) |
R119* |
probably null |
Het |
| Trmt1l |
G |
A |
1: 151,333,205 (GRCm39) |
|
probably benign |
Het |
| Ublcp1 |
G |
T |
11: 44,349,104 (GRCm39) |
Y243* |
probably null |
Het |
| Usp24 |
C |
A |
4: 106,271,601 (GRCm39) |
C2158* |
probably null |
Het |
| Usp34 |
A |
T |
11: 23,383,206 (GRCm39) |
K2088N |
probably damaging |
Het |
| Vmn1r53 |
G |
C |
6: 90,200,925 (GRCm39) |
S133C |
probably damaging |
Het |
| Vmn2r52 |
A |
G |
7: 9,893,327 (GRCm39) |
V604A |
probably damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,525,061 (GRCm39) |
K240E |
probably benign |
Het |
| Wdr13 |
T |
G |
X: 7,994,284 (GRCm39) |
D242A |
probably damaging |
Het |
| Wwp1 |
C |
T |
4: 19,641,734 (GRCm39) |
|
probably null |
Het |
| Zan |
G |
A |
5: 137,396,624 (GRCm39) |
H4311Y |
unknown |
Het |
| Zc3h12c |
C |
A |
9: 52,055,383 (GRCm39) |
R123L |
possibly damaging |
Het |
| Zfp125 |
A |
T |
12: 20,950,562 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp318 |
C |
T |
17: 46,707,739 (GRCm39) |
P266S |
probably benign |
Het |
|
| Other mutations in Scn2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Scn2a
|
APN |
2 |
65,594,784 (GRCm39) |
missense |
probably benign |
|
|
IGL00159:Scn2a
|
APN |
2 |
65,573,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00418:Scn2a
|
APN |
2 |
65,594,866 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL00753:Scn2a
|
APN |
2 |
65,514,207 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL00770:Scn2a
|
APN |
2 |
65,566,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00774:Scn2a
|
APN |
2 |
65,566,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00847:Scn2a
|
APN |
2 |
65,501,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01155:Scn2a
|
APN |
2 |
65,548,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01329:Scn2a
|
APN |
2 |
65,547,852 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01537:Scn2a
|
APN |
2 |
65,546,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01672:Scn2a
|
APN |
2 |
65,582,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01958:Scn2a
|
APN |
2 |
65,532,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02028:Scn2a
|
APN |
2 |
65,594,002 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02142:Scn2a
|
APN |
2 |
65,546,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02160:Scn2a
|
APN |
2 |
65,560,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02183:Scn2a
|
APN |
2 |
65,501,947 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02341:Scn2a
|
APN |
2 |
65,518,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02504:Scn2a
|
APN |
2 |
65,514,228 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02530:Scn2a
|
APN |
2 |
65,560,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02621:Scn2a
|
APN |
2 |
65,579,223 (GRCm39) |
splice site |
probably benign |
|
|
IGL02652:Scn2a
|
APN |
2 |
65,532,382 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02966:Scn2a
|
APN |
2 |
65,532,188 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03188:Scn2a
|
APN |
2 |
65,501,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03329:Scn2a
|
APN |
2 |
65,594,973 (GRCm39) |
missense |
probably benign |
|
|
IGL03336:Scn2a
|
APN |
2 |
65,519,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03391:Scn2a
|
APN |
2 |
65,594,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4280001:Scn2a
|
UTSW |
2 |
65,546,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Scn2a
|
UTSW |
2 |
65,514,182 (GRCm39) |
missense |
probably benign |
0.09 |
|
PIT4403001:Scn2a
|
UTSW |
2 |
65,542,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4520001:Scn2a
|
UTSW |
2 |
65,518,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Scn2a
|
UTSW |
2 |
65,500,859 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0141:Scn2a
|
UTSW |
2 |
65,542,160 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0240:Scn2a
|
UTSW |
2 |
65,566,118 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0335:Scn2a
|
UTSW |
2 |
65,512,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0508:Scn2a
|
UTSW |
2 |
65,548,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0558:Scn2a
|
UTSW |
2 |
65,542,269 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0600:Scn2a
|
UTSW |
2 |
65,532,177 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0667:Scn2a
|
UTSW |
2 |
65,582,340 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1178:Scn2a
|
UTSW |
2 |
65,517,123 (GRCm39) |
splice site |
probably benign |
|
|
R1244:Scn2a
|
UTSW |
2 |
65,593,999 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1386:Scn2a
|
UTSW |
2 |
65,519,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1434:Scn2a
|
UTSW |
2 |
65,532,335 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1440:Scn2a
|
UTSW |
2 |
65,594,938 (GRCm39) |
missense |
probably benign |
|
|
R1448:Scn2a
|
UTSW |
2 |
65,514,189 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1460:Scn2a
|
UTSW |
2 |
65,532,187 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1553:Scn2a
|
UTSW |
2 |
65,544,180 (GRCm39) |
nonsense |
probably null |
|
|
R1642:Scn2a
|
UTSW |
2 |
65,514,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Scn2a
|
UTSW |
2 |
65,501,111 (GRCm39) |
splice site |
probably null |
|
|
R1981:Scn2a
|
UTSW |
2 |
65,520,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2002:Scn2a
|
UTSW |
2 |
65,512,427 (GRCm39) |
missense |
probably null |
1.00 |
|
R2068:Scn2a
|
UTSW |
2 |
65,582,417 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2125:Scn2a
|
UTSW |
2 |
65,582,423 (GRCm39) |
nonsense |
probably null |
|
|
R2126:Scn2a
|
UTSW |
2 |
65,582,423 (GRCm39) |
nonsense |
probably null |
|
|
R2876:Scn2a
|
UTSW |
2 |
65,546,241 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2878:Scn2a
|
UTSW |
2 |
65,518,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3113:Scn2a
|
UTSW |
2 |
65,579,129 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3749:Scn2a
|
UTSW |
2 |
65,544,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3750:Scn2a
|
UTSW |
2 |
65,544,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3765:Scn2a
|
UTSW |
2 |
65,513,054 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3850:Scn2a
|
UTSW |
2 |
65,512,375 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4585:Scn2a
|
UTSW |
2 |
65,573,395 (GRCm39) |
splice site |
probably null |
|
|
R4586:Scn2a
|
UTSW |
2 |
65,573,395 (GRCm39) |
splice site |
probably null |
|
|
R4588:Scn2a
|
UTSW |
2 |
65,544,111 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4622:Scn2a
|
UTSW |
2 |
65,582,371 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5108:Scn2a
|
UTSW |
2 |
65,518,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5161:Scn2a
|
UTSW |
2 |
65,594,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5235:Scn2a
|
UTSW |
2 |
65,582,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5464:Scn2a
|
UTSW |
2 |
65,532,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Scn2a
|
UTSW |
2 |
65,537,639 (GRCm39) |
nonsense |
probably null |
|
|
R5630:Scn2a
|
UTSW |
2 |
65,556,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5715:Scn2a
|
UTSW |
2 |
65,547,928 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5730:Scn2a
|
UTSW |
2 |
65,512,882 (GRCm39) |
nonsense |
probably null |
|
|
R5734:Scn2a
|
UTSW |
2 |
65,548,066 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5779:Scn2a
|
UTSW |
2 |
65,594,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6133:Scn2a
|
UTSW |
2 |
65,573,448 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6547:Scn2a
|
UTSW |
2 |
65,546,241 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6549:Scn2a
|
UTSW |
2 |
65,595,018 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6818:Scn2a
|
UTSW |
2 |
65,519,013 (GRCm39) |
nonsense |
probably null |
|
|
R6999:Scn2a
|
UTSW |
2 |
65,512,453 (GRCm39) |
missense |
probably benign |
|
|
R7069:Scn2a
|
UTSW |
2 |
65,594,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7073:Scn2a
|
UTSW |
2 |
65,558,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7125:Scn2a
|
UTSW |
2 |
65,594,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7178:Scn2a
|
UTSW |
2 |
65,579,197 (GRCm39) |
nonsense |
probably null |
|
|
R7179:Scn2a
|
UTSW |
2 |
65,532,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Scn2a
|
UTSW |
2 |
65,578,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7227:Scn2a
|
UTSW |
2 |
65,582,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7269:Scn2a
|
UTSW |
2 |
65,594,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7358:Scn2a
|
UTSW |
2 |
65,512,850 (GRCm39) |
nonsense |
probably null |
|
|
R7388:Scn2a
|
UTSW |
2 |
65,518,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7491:Scn2a
|
UTSW |
2 |
65,532,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7619:Scn2a
|
UTSW |
2 |
65,546,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7695:Scn2a
|
UTSW |
2 |
65,542,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7735:Scn2a
|
UTSW |
2 |
65,594,013 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7911:Scn2a
|
UTSW |
2 |
65,512,427 (GRCm39) |
missense |
probably null |
1.00 |
|
R8096:Scn2a
|
UTSW |
2 |
65,594,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8172:Scn2a
|
UTSW |
2 |
65,520,672 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8220:Scn2a
|
UTSW |
2 |
65,520,620 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8333:Scn2a
|
UTSW |
2 |
65,514,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8416:Scn2a
|
UTSW |
2 |
65,511,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8850:Scn2a
|
UTSW |
2 |
65,518,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Scn2a
|
UTSW |
2 |
65,546,002 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8977:Scn2a
|
UTSW |
2 |
65,594,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8992:Scn2a
|
UTSW |
2 |
65,594,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9190:Scn2a
|
UTSW |
2 |
65,511,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9206:Scn2a
|
UTSW |
2 |
65,548,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9355:Scn2a
|
UTSW |
2 |
65,594,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Scn2a
|
UTSW |
2 |
65,595,163 (GRCm39) |
missense |
probably benign |
|
|
R9529:Scn2a
|
UTSW |
2 |
65,594,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9567:Scn2a
|
UTSW |
2 |
65,518,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9569:Scn2a
|
UTSW |
2 |
65,560,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9657:Scn2a
|
UTSW |
2 |
65,566,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9715:Scn2a
|
UTSW |
2 |
65,579,149 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9761:Scn2a
|
UTSW |
2 |
65,566,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Scn2a
|
UTSW |
2 |
65,582,212 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1177:Scn2a
|
UTSW |
2 |
65,548,079 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGTGCCAGGTTGTTGTAAACG -3'
(R):5'- CAGGAACAGAGTGTCACCATGAGAC -3'
Sequencing Primer
(F):5'- CAGGTTGTTGTAAACGCTCTC -3'
(R):5'- gcaatgtggaatcagtatgtgaaag -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation