Incidental Mutation 'R0626:Cacna1e'
| ID |
57455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1e
|
| Ensembl Gene |
ENSMUSG00000004110 |
| Gene Name |
calcium channel, voltage-dependent, R type, alpha 1E subunit |
| Synonyms |
Cav2.3, Cchra1, alpha1E |
| MMRRC Submission |
038815-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R0626 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
154266477-154760247 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 154364563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 337
(E337V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004214]
[ENSMUST00000187541]
[ENSMUST00000211821]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004214
AA Change: E91V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000004214
Gene: ENSMUSG00000004110
AA Change: E91V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
1 |
55 |
6.7e-10 |
PFAM |
|
Pfam:Ion_trans
|
168 |
407 |
3.3e-56 |
PFAM |
|
Pfam:PKD_channel
|
257 |
401 |
3.3e-7 |
PFAM |
|
low complexity region
|
409 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
620 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
640 |
N/A |
INTRINSIC |
|
coiled coil region
|
793 |
823 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
847 |
1128 |
2.3e-63 |
PFAM |
|
Pfam:Ion_trans
|
1172 |
1429 |
2.6e-65 |
PFAM |
|
Pfam:PKD_channel
|
1256 |
1424 |
2.8e-10 |
PFAM |
|
Pfam:GPHH
|
1431 |
1500 |
1.3e-37 |
PFAM |
|
Ca_chan_IQ
|
1555 |
1589 |
5.93e-13 |
SMART |
|
low complexity region
|
1701 |
1717 |
N/A |
INTRINSIC |
|
low complexity region
|
1729 |
1742 |
N/A |
INTRINSIC |
|
low complexity region
|
1764 |
1780 |
N/A |
INTRINSIC |
|
low complexity region
|
1789 |
1804 |
N/A |
INTRINSIC |
|
low complexity region
|
1808 |
1822 |
N/A |
INTRINSIC |
|
low complexity region
|
1832 |
1846 |
N/A |
INTRINSIC |
|
low complexity region
|
1867 |
1878 |
N/A |
INTRINSIC |
|
low complexity region
|
1936 |
1946 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187541
AA Change: E399V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140937
Gene: ENSMUSG00000004110
AA Change: E399V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
128 |
351 |
8.5e-54 |
PFAM |
|
PDB:4DEX|B
|
354 |
462 |
6e-36 |
PDB |
|
Pfam:Ion_trans
|
511 |
703 |
2.2e-46 |
PFAM |
|
Pfam:PKD_channel
|
565 |
710 |
1.4e-6 |
PFAM |
|
low complexity region
|
717 |
722 |
N/A |
INTRINSIC |
|
low complexity region
|
763 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
822 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
934 |
948 |
N/A |
INTRINSIC |
|
coiled coil region
|
1101 |
1131 |
N/A |
INTRINSIC |
|
low complexity region
|
1162 |
1175 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1191 |
1425 |
4.3e-55 |
PFAM |
|
Pfam:Ion_trans
|
1515 |
1725 |
5.3e-60 |
PFAM |
|
Pfam:PKD_channel
|
1565 |
1732 |
4.7e-10 |
PFAM |
|
Ca_chan_IQ
|
1863 |
1897 |
5.93e-13 |
SMART |
|
low complexity region
|
2009 |
2025 |
N/A |
INTRINSIC |
|
low complexity region
|
2037 |
2050 |
N/A |
INTRINSIC |
|
low complexity region
|
2072 |
2088 |
N/A |
INTRINSIC |
|
low complexity region
|
2097 |
2112 |
N/A |
INTRINSIC |
|
low complexity region
|
2116 |
2130 |
N/A |
INTRINSIC |
|
low complexity region
|
2140 |
2154 |
N/A |
INTRINSIC |
|
low complexity region
|
2175 |
2186 |
N/A |
INTRINSIC |
|
low complexity region
|
2244 |
2254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188965
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211821
AA Change: E337V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an integral membrane protein that belongs to the calcium channel alpha-1 subunits family. Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes. Voltage-dependent calcium channels are multi-subunit complexes, comprised of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The isoform alpha-1E gives rise to R-type calcium currents and belongs to the high-voltage activated group. Calcium channels containing the alpha-1E subunit may be involved in the modulation of neuronal firing patterns, an important component of information processing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted, knock-out(3) Targeted, other(3) Gene trapped(1) |
| Other mutations in this stock |
Total: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,679,547 (GRCm39) |
|
probably benign |
Het |
| 6430571L13Rik |
T |
A |
9: 107,219,707 (GRCm39) |
D53E |
possibly damaging |
Het |
| A2ml1 |
T |
A |
6: 128,527,736 (GRCm39) |
N1018I |
probably damaging |
Het |
| Abi3 |
C |
A |
11: 95,727,937 (GRCm39) |
A85S |
probably benign |
Het |
| Acsl5 |
A |
T |
19: 55,272,904 (GRCm39) |
M340L |
probably benign |
Het |
| Adam29 |
T |
A |
8: 56,324,612 (GRCm39) |
H614L |
probably benign |
Het |
| Adgrg6 |
A |
T |
10: 14,312,628 (GRCm39) |
S720T |
probably damaging |
Het |
| Adrb2 |
G |
T |
18: 62,312,441 (GRCm39) |
A128E |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,872,291 (GRCm39) |
E510G |
probably benign |
Het |
| Angel1 |
A |
G |
12: 86,764,487 (GRCm39) |
|
probably null |
Het |
| Aox3 |
T |
G |
1: 58,211,458 (GRCm39) |
I1005S |
possibly damaging |
Het |
| Apc |
C |
A |
18: 34,451,507 (GRCm39) |
P2767Q |
probably damaging |
Het |
| Apob |
T |
G |
12: 8,066,193 (GRCm39) |
D4387E |
probably benign |
Het |
| Apobr |
T |
C |
7: 126,185,827 (GRCm39) |
V446A |
possibly damaging |
Het |
| Arhgap28 |
A |
T |
17: 68,203,108 (GRCm39) |
|
probably null |
Het |
| Aspm |
G |
T |
1: 139,419,339 (GRCm39) |
K3001N |
probably damaging |
Het |
| Asxl3 |
G |
T |
18: 22,655,937 (GRCm39) |
V1316F |
probably benign |
Het |
| Atp2a1 |
T |
A |
7: 126,046,162 (GRCm39) |
|
probably null |
Het |
| Bach1 |
A |
G |
16: 87,526,359 (GRCm39) |
D607G |
possibly damaging |
Het |
| Batf3 |
A |
G |
1: 190,832,935 (GRCm39) |
D27G |
probably damaging |
Het |
| Baz1a |
G |
T |
12: 55,022,055 (GRCm39) |
Q76K |
probably damaging |
Het |
| Bdnf |
G |
A |
2: 109,553,883 (GRCm39) |
V86M |
probably benign |
Het |
| Birc7 |
A |
G |
2: 180,573,098 (GRCm39) |
I172V |
probably benign |
Het |
| Bod1l |
A |
C |
5: 41,988,880 (GRCm39) |
V409G |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,612,520 (GRCm39) |
F287L |
possibly damaging |
Het |
| Ces1e |
A |
G |
8: 93,950,671 (GRCm39) |
Y37H |
probably benign |
Het |
| Clasrp |
A |
T |
7: 19,318,418 (GRCm39) |
|
probably benign |
Het |
| Clec2d |
T |
A |
6: 129,160,090 (GRCm39) |
S35T |
probably damaging |
Het |
| Cntn4 |
T |
A |
6: 106,639,539 (GRCm39) |
D556E |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,349,422 (GRCm39) |
D245V |
probably benign |
Het |
| Col5a1 |
T |
A |
2: 27,818,255 (GRCm39) |
L160* |
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,654,943 (GRCm39) |
E926G |
probably benign |
Het |
| Cpsf2 |
T |
A |
12: 101,951,490 (GRCm39) |
H142Q |
probably benign |
Het |
| Cr2 |
A |
C |
1: 194,853,419 (GRCm39) |
S20A |
possibly damaging |
Het |
| Ct45a |
G |
A |
X: 55,590,399 (GRCm39) |
P134L |
probably benign |
Het |
| Cyp2j5 |
A |
T |
4: 96,547,749 (GRCm39) |
H164Q |
probably benign |
Het |
| D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,703,811 (GRCm39) |
V1124M |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,323,838 (GRCm39) |
H1182R |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,368,509 (GRCm39) |
S1709T |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,560,844 (GRCm39) |
V776A |
probably damaging |
Het |
| Emc3 |
T |
C |
6: 113,492,992 (GRCm39) |
T220A |
probably benign |
Het |
| Entpd1 |
A |
C |
19: 40,715,769 (GRCm39) |
N312T |
probably benign |
Het |
| Fam8a1 |
A |
T |
13: 46,824,699 (GRCm39) |
I229F |
probably damaging |
Het |
| Fancc |
G |
A |
13: 63,465,205 (GRCm39) |
P501S |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,702,751 (GRCm39) |
R1704G |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,819,302 (GRCm39) |
I5012V |
probably benign |
Het |
| Glce |
T |
C |
9: 61,968,282 (GRCm39) |
T290A |
probably benign |
Het |
| Gns |
G |
A |
10: 121,219,349 (GRCm39) |
|
probably null |
Het |
| Gsdma2 |
A |
G |
11: 98,542,810 (GRCm39) |
N190S |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,415,887 (GRCm39) |
S563T |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,674,470 (GRCm39) |
|
probably null |
Het |
| Jup |
A |
T |
11: 100,267,589 (GRCm39) |
M578K |
probably benign |
Het |
| Kir3dl1 |
G |
A |
X: 135,434,594 (GRCm39) |
|
probably null |
Het |
| Krt75 |
A |
G |
15: 101,482,025 (GRCm39) |
F81S |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,403,233 (GRCm39) |
D2113E |
probably damaging |
Het |
| Maged2 |
T |
A |
X: 149,594,830 (GRCm39) |
N176Y |
probably damaging |
Het |
| Mrc1 |
T |
A |
2: 14,333,382 (GRCm39) |
C1354* |
probably null |
Het |
| Mup7 |
A |
C |
4: 60,069,742 (GRCm39) |
V74G |
possibly damaging |
Het |
| Naca |
A |
G |
10: 127,877,031 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
G |
10: 109,659,325 (GRCm39) |
Y764S |
probably damaging |
Het |
| Nkpd1 |
A |
T |
7: 19,257,099 (GRCm39) |
T293S |
probably benign |
Het |
| Numb |
A |
G |
12: 83,842,614 (GRCm39) |
Y510H |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,105,492 (GRCm39) |
L834R |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or2ak5 |
G |
T |
11: 58,611,347 (GRCm39) |
H176N |
probably benign |
Het |
| Or8g18 |
T |
A |
9: 39,149,162 (GRCm39) |
N186I |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,920,797 (GRCm39) |
V1000A |
possibly damaging |
Het |
| Pafah1b3 |
A |
G |
7: 24,996,554 (GRCm39) |
V43A |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,030,450 (GRCm39) |
Y1775C |
possibly damaging |
Het |
| Phka1 |
G |
A |
X: 101,564,437 (GRCm39) |
R1074C |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,111,765 (GRCm39) |
Y1570F |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,152,329 (GRCm39) |
K2588E |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,794,549 (GRCm39) |
T2079A |
probably damaging |
Het |
| Plekhd1 |
G |
T |
12: 80,764,075 (GRCm39) |
Q212H |
probably damaging |
Het |
| Plekhh1 |
C |
T |
12: 79,087,359 (GRCm39) |
R16* |
probably null |
Het |
| Polm |
C |
A |
11: 5,786,207 (GRCm39) |
R120L |
probably damaging |
Het |
| Ptpn22 |
T |
C |
3: 103,767,721 (GRCm39) |
M1T |
probably null |
Het |
| Ptprh |
G |
A |
7: 4,567,271 (GRCm39) |
L534F |
probably benign |
Het |
| Rabl6 |
C |
T |
2: 25,482,778 (GRCm39) |
|
probably null |
Het |
| Rap2a |
A |
G |
14: 120,716,403 (GRCm39) |
S89G |
probably damaging |
Het |
| Rara |
A |
T |
11: 98,862,406 (GRCm39) |
|
probably null |
Het |
| Reck |
A |
G |
4: 43,930,295 (GRCm39) |
D623G |
probably benign |
Het |
| Relt |
A |
T |
7: 100,498,023 (GRCm39) |
L237Q |
probably damaging |
Het |
| Rngtt |
A |
G |
4: 33,329,598 (GRCm39) |
|
probably null |
Het |
| Rtn4rl2 |
T |
G |
2: 84,710,763 (GRCm39) |
Y167S |
probably damaging |
Het |
| Sec24c |
C |
T |
14: 20,738,505 (GRCm39) |
R353C |
probably damaging |
Het |
| Slc35g2 |
T |
C |
9: 100,435,495 (GRCm39) |
S59G |
probably benign |
Het |
| Smarcd2 |
A |
T |
11: 106,158,241 (GRCm39) |
M107K |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,781,606 (GRCm39) |
N1227S |
possibly damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,063,734 (GRCm39) |
N638D |
possibly damaging |
Het |
| Sntb1 |
A |
G |
15: 55,506,179 (GRCm39) |
S465P |
probably benign |
Het |
| Sp4 |
A |
G |
12: 118,263,314 (GRCm39) |
L244P |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,887,716 (GRCm39) |
|
probably null |
Het |
| Tbc1d17 |
T |
C |
7: 44,492,509 (GRCm39) |
T385A |
probably benign |
Het |
| Tbx10 |
C |
A |
19: 4,047,873 (GRCm39) |
D206E |
probably benign |
Het |
| Tcea2 |
C |
T |
2: 181,329,431 (GRCm39) |
P275S |
probably damaging |
Het |
| Tns3 |
C |
A |
11: 8,443,121 (GRCm39) |
R414L |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,852,235 (GRCm39) |
R610G |
possibly damaging |
Het |
| Ugt2b1 |
T |
C |
5: 87,073,720 (GRCm39) |
K213R |
probably null |
Het |
| Unc80 |
A |
G |
1: 66,647,601 (GRCm39) |
S1514G |
probably benign |
Het |
| Usp7 |
G |
T |
16: 8,511,778 (GRCm39) |
Q867K |
possibly damaging |
Het |
| Vim |
T |
C |
2: 13,579,463 (GRCm39) |
V74A |
probably benign |
Het |
| Vmn1r234 |
A |
G |
17: 21,450,007 (GRCm39) |
Y307C |
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,610,517 (GRCm39) |
Y58* |
probably null |
Het |
| Wdr36 |
C |
A |
18: 32,983,584 (GRCm39) |
A445E |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,532,359 (GRCm39) |
W465R |
probably damaging |
Het |
| Zscan4d |
T |
A |
7: 10,898,946 (GRCm39) |
R110S |
probably damaging |
Het |
|
| Other mutations in Cacna1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00551:Cacna1e
|
APN |
1 |
154,279,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01086:Cacna1e
|
APN |
1 |
154,347,347 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01302:Cacna1e
|
APN |
1 |
154,319,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01386:Cacna1e
|
APN |
1 |
154,348,123 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01573:Cacna1e
|
APN |
1 |
154,347,113 (GRCm39) |
missense |
probably benign |
|
|
IGL01676:Cacna1e
|
APN |
1 |
154,288,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01676:Cacna1e
|
APN |
1 |
154,274,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01762:Cacna1e
|
APN |
1 |
154,347,119 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01801:Cacna1e
|
APN |
1 |
154,347,086 (GRCm39) |
missense |
probably null |
0.00 |
|
IGL01895:Cacna1e
|
APN |
1 |
154,319,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02391:Cacna1e
|
APN |
1 |
154,296,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:Cacna1e
|
APN |
1 |
154,279,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02659:Cacna1e
|
APN |
1 |
154,302,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02686:Cacna1e
|
APN |
1 |
154,369,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02838:Cacna1e
|
APN |
1 |
154,321,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02958:Cacna1e
|
APN |
1 |
154,341,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02981:Cacna1e
|
APN |
1 |
154,347,171 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03120:Cacna1e
|
APN |
1 |
154,319,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03232:Cacna1e
|
APN |
1 |
154,369,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03310:Cacna1e
|
APN |
1 |
154,317,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Cacna1e
|
APN |
1 |
154,342,690 (GRCm39) |
critical splice donor site |
probably null |
|
|
bezoar
|
UTSW |
1 |
154,312,300 (GRCm39) |
splice site |
probably null |
|
|
hairball
|
UTSW |
1 |
154,355,051 (GRCm39) |
missense |
probably damaging |
0.97 |
|
N/A - 535:Cacna1e
|
UTSW |
1 |
154,341,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0122:Cacna1e
|
UTSW |
1 |
154,319,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0143:Cacna1e
|
UTSW |
1 |
154,324,693 (GRCm39) |
splice site |
probably null |
|
|
R0314:Cacna1e
|
UTSW |
1 |
154,317,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0366:Cacna1e
|
UTSW |
1 |
154,291,884 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0739:Cacna1e
|
UTSW |
1 |
154,318,024 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1272:Cacna1e
|
UTSW |
1 |
154,320,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1300:Cacna1e
|
UTSW |
1 |
154,274,419 (GRCm39) |
missense |
probably benign |
|
|
R1340:Cacna1e
|
UTSW |
1 |
154,348,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1440:Cacna1e
|
UTSW |
1 |
154,437,552 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1449:Cacna1e
|
UTSW |
1 |
154,361,408 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1538:Cacna1e
|
UTSW |
1 |
154,437,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1542:Cacna1e
|
UTSW |
1 |
154,353,525 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1560:Cacna1e
|
UTSW |
1 |
154,296,850 (GRCm39) |
nonsense |
probably null |
|
|
R1748:Cacna1e
|
UTSW |
1 |
154,362,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1749:Cacna1e
|
UTSW |
1 |
154,319,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Cacna1e
|
UTSW |
1 |
154,312,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1968:Cacna1e
|
UTSW |
1 |
154,576,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Cacna1e
|
UTSW |
1 |
154,353,563 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1994:Cacna1e
|
UTSW |
1 |
154,353,563 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2191:Cacna1e
|
UTSW |
1 |
154,319,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Cacna1e
|
UTSW |
1 |
154,279,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2417:Cacna1e
|
UTSW |
1 |
154,347,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3608:Cacna1e
|
UTSW |
1 |
154,291,831 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3757:Cacna1e
|
UTSW |
1 |
154,509,442 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3890:Cacna1e
|
UTSW |
1 |
154,359,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4015:Cacna1e
|
UTSW |
1 |
154,358,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Cacna1e
|
UTSW |
1 |
154,287,929 (GRCm39) |
splice site |
probably null |
|
|
R4275:Cacna1e
|
UTSW |
1 |
154,369,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4282:Cacna1e
|
UTSW |
1 |
154,302,296 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4297:Cacna1e
|
UTSW |
1 |
154,274,477 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4356:Cacna1e
|
UTSW |
1 |
154,319,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Cacna1e
|
UTSW |
1 |
154,437,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4511:Cacna1e
|
UTSW |
1 |
154,437,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Cacna1e
|
UTSW |
1 |
154,277,773 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4590:Cacna1e
|
UTSW |
1 |
154,312,265 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4601:Cacna1e
|
UTSW |
1 |
154,347,359 (GRCm39) |
missense |
probably benign |
|
|
R4622:Cacna1e
|
UTSW |
1 |
154,347,311 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4626:Cacna1e
|
UTSW |
1 |
154,358,294 (GRCm39) |
splice site |
probably null |
|
|
R4694:Cacna1e
|
UTSW |
1 |
154,313,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4727:Cacna1e
|
UTSW |
1 |
154,312,214 (GRCm39) |
nonsense |
probably null |
|
|
R4839:Cacna1e
|
UTSW |
1 |
154,296,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4851:Cacna1e
|
UTSW |
1 |
154,312,300 (GRCm39) |
splice site |
probably null |
|
|
R4894:Cacna1e
|
UTSW |
1 |
154,364,551 (GRCm39) |
nonsense |
probably null |
|
|
R4934:Cacna1e
|
UTSW |
1 |
154,357,380 (GRCm39) |
nonsense |
probably null |
|
|
R4979:Cacna1e
|
UTSW |
1 |
154,289,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5077:Cacna1e
|
UTSW |
1 |
154,437,475 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5128:Cacna1e
|
UTSW |
1 |
154,277,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5214:Cacna1e
|
UTSW |
1 |
154,577,110 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5274:Cacna1e
|
UTSW |
1 |
154,576,250 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5388:Cacna1e
|
UTSW |
1 |
154,353,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Cacna1e
|
UTSW |
1 |
154,341,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5469:Cacna1e
|
UTSW |
1 |
154,319,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Cacna1e
|
UTSW |
1 |
154,601,455 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5607:Cacna1e
|
UTSW |
1 |
154,347,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5615:Cacna1e
|
UTSW |
1 |
154,287,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5616:Cacna1e
|
UTSW |
1 |
154,317,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5627:Cacna1e
|
UTSW |
1 |
154,511,604 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5707:Cacna1e
|
UTSW |
1 |
154,509,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5756:Cacna1e
|
UTSW |
1 |
154,347,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5893:Cacna1e
|
UTSW |
1 |
154,313,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6117:Cacna1e
|
UTSW |
1 |
154,437,537 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6134:Cacna1e
|
UTSW |
1 |
154,577,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Cacna1e
|
UTSW |
1 |
154,362,316 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6279:Cacna1e
|
UTSW |
1 |
154,301,678 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6295:Cacna1e
|
UTSW |
1 |
154,317,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6300:Cacna1e
|
UTSW |
1 |
154,301,678 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6320:Cacna1e
|
UTSW |
1 |
154,317,270 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6375:Cacna1e
|
UTSW |
1 |
154,355,051 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6830:Cacna1e
|
UTSW |
1 |
154,289,720 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6842:Cacna1e
|
UTSW |
1 |
154,358,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Cacna1e
|
UTSW |
1 |
154,601,439 (GRCm39) |
missense |
probably null |
0.85 |
|
R7081:Cacna1e
|
UTSW |
1 |
154,576,129 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7085:Cacna1e
|
UTSW |
1 |
154,349,492 (GRCm39) |
splice site |
probably null |
|
|
R7108:Cacna1e
|
UTSW |
1 |
154,344,741 (GRCm39) |
frame shift |
probably null |
|
|
R7142:Cacna1e
|
UTSW |
1 |
154,288,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Cacna1e
|
UTSW |
1 |
154,576,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7332:Cacna1e
|
UTSW |
1 |
154,601,547 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7410:Cacna1e
|
UTSW |
1 |
154,347,980 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7502:Cacna1e
|
UTSW |
1 |
154,344,734 (GRCm39) |
missense |
probably null |
0.35 |
|
R7556:Cacna1e
|
UTSW |
1 |
154,348,419 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7563:Cacna1e
|
UTSW |
1 |
154,347,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7573:Cacna1e
|
UTSW |
1 |
154,601,911 (GRCm39) |
intron |
probably benign |
|
|
R7689:Cacna1e
|
UTSW |
1 |
154,274,549 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7699:Cacna1e
|
UTSW |
1 |
154,319,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7744:Cacna1e
|
UTSW |
1 |
154,341,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Cacna1e
|
UTSW |
1 |
154,288,863 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7787:Cacna1e
|
UTSW |
1 |
154,358,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7818:Cacna1e
|
UTSW |
1 |
154,274,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7838:Cacna1e
|
UTSW |
1 |
154,347,149 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7849:Cacna1e
|
UTSW |
1 |
154,509,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8011:Cacna1e
|
UTSW |
1 |
154,341,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8094:Cacna1e
|
UTSW |
1 |
154,437,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8162:Cacna1e
|
UTSW |
1 |
154,577,313 (GRCm39) |
splice site |
probably null |
|
|
R8202:Cacna1e
|
UTSW |
1 |
154,274,195 (GRCm39) |
missense |
probably benign |
|
|
R8280:Cacna1e
|
UTSW |
1 |
154,344,839 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8354:Cacna1e
|
UTSW |
1 |
154,274,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8385:Cacna1e
|
UTSW |
1 |
154,319,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8532:Cacna1e
|
UTSW |
1 |
154,341,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Cacna1e
|
UTSW |
1 |
154,349,632 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8926:Cacna1e
|
UTSW |
1 |
154,577,080 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8947:Cacna1e
|
UTSW |
1 |
154,277,896 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9094:Cacna1e
|
UTSW |
1 |
154,355,064 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9126:Cacna1e
|
UTSW |
1 |
154,343,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9175:Cacna1e
|
UTSW |
1 |
154,274,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9286:Cacna1e
|
UTSW |
1 |
154,288,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9377:Cacna1e
|
UTSW |
1 |
154,361,458 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9452:Cacna1e
|
UTSW |
1 |
154,289,720 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9463:Cacna1e
|
UTSW |
1 |
154,357,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9513:Cacna1e
|
UTSW |
1 |
154,318,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9534:Cacna1e
|
UTSW |
1 |
154,320,693 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9562:Cacna1e
|
UTSW |
1 |
154,283,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF008:Cacna1e
|
UTSW |
1 |
154,317,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Cacna1e
|
UTSW |
1 |
154,288,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cacna1e
|
UTSW |
1 |
154,511,596 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Cacna1e
|
UTSW |
1 |
154,318,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGTCCCAAGATGATCCCCATAG -3'
(R):5'- GTGAGGCTCGATTTCTCTCCATGC -3'
Sequencing Primer
(F):5'- CTGGAACAATGCAGCTCTTG -3'
(R):5'- ATGCTGGTGCCCACAATG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation