Incidental Mutation 'R7250:Cacna1d'
ID |
563873 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cacna1d
|
Ensembl Gene |
ENSMUSG00000015968 |
Gene Name |
calcium channel, voltage-dependent, L type, alpha 1D subunit |
Synonyms |
Cacnl1a2, Cchl1a2, C79217, Cchl1a, Cav1.3alpha1, 8430418G19Rik, D-LTCC |
MMRRC Submission |
045350-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.900)
|
Stock # |
R7250 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
29761898-30213113 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29797108 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1497
(S1497P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112249]
[ENSMUST00000112250]
[ENSMUST00000223803]
[ENSMUST00000224198]
[ENSMUST00000224395]
[ENSMUST00000224785]
|
AlphaFold |
Q99246 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112249
AA Change: S1475P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107868 Gene: ENSMUSG00000015968 AA Change: S1475P
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
10 |
N/A |
INTRINSIC |
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
163 |
405 |
4.8e-59 |
PFAM |
PDB:4DEY|B
|
406 |
502 |
3e-38 |
PDB |
low complexity region
|
503 |
517 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
557 |
751 |
5.5e-46 |
PFAM |
low complexity region
|
766 |
781 |
N/A |
INTRINSIC |
low complexity region
|
819 |
840 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
921 |
1151 |
7.2e-51 |
PFAM |
Pfam:Ion_trans
|
1239 |
1448 |
3.6e-67 |
PFAM |
Pfam:PKD_channel
|
1285 |
1455 |
1.9e-9 |
PFAM |
Blast:EFh
|
1469 |
1497 |
2e-9 |
BLAST |
Ca_chan_IQ
|
1583 |
1617 |
5.05e-16 |
SMART |
low complexity region
|
1649 |
1661 |
N/A |
INTRINSIC |
low complexity region
|
1722 |
1728 |
N/A |
INTRINSIC |
low complexity region
|
1830 |
1840 |
N/A |
INTRINSIC |
low complexity region
|
1885 |
1905 |
N/A |
INTRINSIC |
low complexity region
|
1921 |
1936 |
N/A |
INTRINSIC |
low complexity region
|
2122 |
2133 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112250
AA Change: S1497P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107869 Gene: ENSMUSG00000015968 AA Change: S1497P
Domain | Start | End | E-Value | Type |
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
147 |
439 |
5.6e-72 |
PFAM |
low complexity region
|
473 |
482 |
N/A |
INTRINSIC |
low complexity region
|
525 |
539 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
544 |
784 |
2e-56 |
PFAM |
low complexity region
|
788 |
803 |
N/A |
INTRINSIC |
low complexity region
|
841 |
862 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
907 |
1185 |
2.6e-63 |
PFAM |
Pfam:Ion_trans
|
1226 |
1482 |
1.7e-70 |
PFAM |
Pfam:PKD_channel
|
1306 |
1477 |
1.2e-9 |
PFAM |
Pfam:GPHH
|
1484 |
1553 |
2.3e-38 |
PFAM |
Ca_chan_IQ
|
1605 |
1639 |
5.05e-16 |
SMART |
Pfam:CAC1F_C
|
1649 |
2165 |
1.1e-68 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223803
AA Change: S1475P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224198
AA Change: S1510P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224395
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224785
AA Change: S1475P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224912
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a pore-forming subunit of the L-type, voltage-activated calcium channel family. These channels have been found to play a role in heart and smooth muscle contraction and in the transmission of auditory information. Homozygous knockout mice for this gene exhibit deafness and heart defects. These channels have also been linked to mitochondrial oxidative stress in a mouse model of Parkinson's disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014] PHENOTYPE: Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 102 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930480E11Rik |
G |
T |
X: 77,414,311 (GRCm39) |
M345I |
probably benign |
Het |
Actl7b |
T |
A |
4: 56,741,035 (GRCm39) |
M108L |
probably benign |
Het |
Adgrf3 |
T |
A |
5: 30,400,680 (GRCm39) |
I934L |
probably damaging |
Het |
Adprm |
A |
G |
11: 66,932,450 (GRCm39) |
V153A |
probably benign |
Het |
Aif1l |
G |
A |
2: 31,859,764 (GRCm39) |
V109M |
probably damaging |
Het |
Asphd1 |
T |
A |
7: 126,545,942 (GRCm39) |
E307V |
probably damaging |
Het |
Ate1 |
T |
A |
7: 130,121,701 (GRCm39) |
|
probably benign |
Het |
Borcs7 |
A |
G |
19: 46,688,047 (GRCm39) |
H64R |
probably damaging |
Het |
C1qtnf1 |
A |
G |
11: 118,339,176 (GRCm39) |
*282W |
probably null |
Het |
Cacna1c |
A |
G |
6: 118,574,966 (GRCm39) |
C1985R |
|
Het |
Cacna1c |
A |
T |
6: 118,673,412 (GRCm39) |
V647E |
|
Het |
Cacna1e |
T |
A |
1: 154,576,235 (GRCm39) |
I133F |
possibly damaging |
Het |
Ccdc63 |
A |
T |
5: 122,260,906 (GRCm39) |
L206H |
probably damaging |
Het |
Cenatac |
A |
G |
9: 44,323,748 (GRCm39) |
|
probably null |
Het |
Cspg4b |
T |
G |
13: 113,455,349 (GRCm39) |
I465R |
|
Het |
D430041D05Rik |
T |
C |
2: 104,086,961 (GRCm39) |
T672A |
possibly damaging |
Het |
D630045J12Rik |
G |
T |
6: 38,119,546 (GRCm39) |
T1732K |
possibly damaging |
Het |
D930020B18Rik |
T |
C |
10: 121,507,736 (GRCm39) |
I158T |
probably damaging |
Het |
Ddx52 |
G |
A |
11: 83,835,392 (GRCm39) |
G106D |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,586,032 (GRCm39) |
V550A |
probably benign |
Het |
Dock2 |
C |
T |
11: 34,586,120 (GRCm39) |
D521N |
probably damaging |
Het |
F13b |
T |
C |
1: 139,444,227 (GRCm39) |
|
probably null |
Het |
Fchsd2 |
A |
G |
7: 100,908,892 (GRCm39) |
K431R |
possibly damaging |
Het |
Fez1 |
C |
T |
9: 36,779,090 (GRCm39) |
R256C |
probably damaging |
Het |
Gjd4 |
T |
A |
18: 9,280,391 (GRCm39) |
Q229L |
probably benign |
Het |
Gpr45 |
T |
A |
1: 43,071,531 (GRCm39) |
I58N |
probably damaging |
Het |
Gstm1 |
T |
A |
3: 107,923,709 (GRCm39) |
I99F |
probably damaging |
Het |
Gtpbp8 |
T |
A |
16: 44,564,225 (GRCm39) |
T149S |
probably damaging |
Het |
H2-Ab1 |
A |
G |
17: 34,486,481 (GRCm39) |
D180G |
probably damaging |
Het |
Hdhd5 |
A |
G |
6: 120,494,016 (GRCm39) |
I188T |
possibly damaging |
Het |
Hfm1 |
T |
C |
5: 107,052,197 (GRCm39) |
I300V |
probably benign |
Het |
Hnrnpr |
T |
G |
4: 136,059,746 (GRCm39) |
D283E |
probably benign |
Het |
Hsp90b1 |
T |
C |
10: 86,527,572 (GRCm39) |
E768G |
unknown |
Het |
Kcna4 |
C |
A |
2: 107,126,663 (GRCm39) |
Q466K |
possibly damaging |
Het |
Kcnk6 |
A |
G |
7: 28,931,619 (GRCm39) |
L97P |
probably benign |
Het |
Kics2 |
T |
C |
10: 121,581,376 (GRCm39) |
S126P |
possibly damaging |
Het |
Klf5 |
A |
G |
14: 99,536,455 (GRCm39) |
S9G |
probably benign |
Het |
Kmt2c |
C |
A |
5: 25,504,489 (GRCm39) |
K3606N |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,514,805 (GRCm39) |
T3013A |
probably benign |
Het |
Lancl1 |
A |
G |
1: 67,048,458 (GRCm39) |
Y207H |
possibly damaging |
Het |
Lipe |
G |
C |
7: 25,088,085 (GRCm39) |
|
probably benign |
Het |
Lrrc66 |
T |
A |
5: 73,768,224 (GRCm39) |
H239L |
probably benign |
Het |
Ltbp2 |
C |
T |
12: 84,834,166 (GRCm39) |
W1441* |
probably null |
Het |
Man2a1 |
T |
C |
17: 64,943,583 (GRCm39) |
S213P |
probably benign |
Het |
Mapre2 |
C |
T |
18: 23,991,119 (GRCm39) |
A171V |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,695,427 (GRCm39) |
D1155E |
probably damaging |
Het |
Mki67 |
T |
C |
7: 135,301,053 (GRCm39) |
D1327G |
possibly damaging |
Het |
Mx2 |
T |
C |
16: 97,348,664 (GRCm39) |
I279T |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,169,497 (GRCm39) |
T441A |
probably damaging |
Het |
Nlrp9a |
T |
G |
7: 26,258,143 (GRCm39) |
V587G |
possibly damaging |
Het |
Npas2 |
A |
T |
1: 39,377,188 (GRCm39) |
T517S |
probably damaging |
Het |
Npy1r |
T |
C |
8: 67,157,712 (GRCm39) |
S341P |
probably benign |
Het |
Ntm |
A |
G |
9: 29,322,988 (GRCm39) |
W11R |
probably benign |
Het |
Nxpe2 |
A |
T |
9: 48,238,096 (GRCm39) |
I53N |
possibly damaging |
Het |
Onecut2 |
T |
C |
18: 64,519,511 (GRCm39) |
F443L |
probably benign |
Het |
Or10g6 |
T |
A |
9: 39,934,050 (GRCm39) |
Y120* |
probably null |
Het |
Or2r2 |
A |
G |
6: 42,463,689 (GRCm39) |
V146A |
probably benign |
Het |
Or52ac1 |
A |
T |
7: 104,245,738 (GRCm39) |
Y217N |
probably damaging |
Het |
Parp2 |
T |
A |
14: 51,054,801 (GRCm39) |
V248E |
probably benign |
Het |
Pcdh12 |
C |
A |
18: 38,415,029 (GRCm39) |
V699L |
probably benign |
Het |
Pja2 |
G |
A |
17: 64,616,451 (GRCm39) |
P148L |
probably benign |
Het |
Poglut3 |
C |
T |
9: 53,301,821 (GRCm39) |
Q158* |
probably null |
Het |
Ppip5k2 |
T |
G |
1: 97,673,187 (GRCm39) |
D415A |
probably benign |
Het |
Prss47 |
A |
G |
13: 65,200,355 (GRCm39) |
S74P |
probably benign |
Het |
Ptprg |
G |
T |
14: 12,166,767 (GRCm38) |
M723I |
probably benign |
Het |
Qsox2 |
A |
T |
2: 26,118,444 (GRCm39) |
I109N |
probably damaging |
Het |
Ranbp3l |
A |
G |
15: 9,041,853 (GRCm39) |
E217G |
probably benign |
Het |
Rgl2 |
C |
T |
17: 34,152,403 (GRCm39) |
R367W |
probably damaging |
Het |
Rgs12 |
T |
A |
5: 35,122,841 (GRCm39) |
F208Y |
probably damaging |
Het |
Rin3 |
C |
T |
12: 102,334,893 (GRCm39) |
T268I |
unknown |
Het |
Rttn |
T |
A |
18: 89,007,647 (GRCm39) |
D427E |
probably benign |
Het |
Samd13 |
G |
A |
3: 146,352,079 (GRCm39) |
P91S |
probably benign |
Het |
Samd9l |
T |
C |
6: 3,374,201 (GRCm39) |
D1020G |
possibly damaging |
Het |
Sec62 |
T |
G |
3: 30,866,496 (GRCm39) |
L201V |
possibly damaging |
Het |
Setdb1 |
C |
T |
3: 95,261,852 (GRCm39) |
|
probably null |
Het |
Sf3a3 |
A |
T |
4: 124,616,708 (GRCm39) |
T197S |
probably benign |
Het |
Slc20a1 |
A |
T |
2: 129,051,844 (GRCm39) |
I618F |
possibly damaging |
Het |
Slc38a3 |
A |
T |
9: 107,533,865 (GRCm39) |
M186K |
probably benign |
Het |
Slc39a13 |
T |
C |
2: 90,893,503 (GRCm39) |
T319A |
probably benign |
Het |
Slc44a4 |
T |
C |
17: 35,137,520 (GRCm39) |
|
probably null |
Het |
St3gal1 |
A |
C |
15: 66,978,578 (GRCm39) |
D314E |
possibly damaging |
Het |
Suclg1 |
A |
G |
6: 73,248,074 (GRCm39) |
N265S |
probably benign |
Het |
Sult2b1 |
A |
T |
7: 45,433,361 (GRCm39) |
V2D |
unknown |
Het |
Supv3l1 |
T |
A |
10: 62,280,846 (GRCm39) |
I182F |
probably damaging |
Het |
Tcp11l2 |
T |
C |
10: 84,423,105 (GRCm39) |
|
probably null |
Het |
Tenm2 |
C |
A |
11: 35,963,625 (GRCm39) |
L935F |
probably damaging |
Het |
Tnks |
T |
A |
8: 35,318,912 (GRCm39) |
I790F |
probably damaging |
Het |
Top2b |
C |
T |
14: 16,420,411 (GRCm38) |
T1274I |
probably benign |
Het |
Tpi1 |
A |
T |
6: 124,789,441 (GRCm39) |
I178N |
probably damaging |
Het |
Trav9d-1 |
A |
T |
14: 53,030,153 (GRCm39) |
S86C |
probably damaging |
Het |
Treml2 |
A |
G |
17: 48,616,155 (GRCm39) |
E265G |
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,668,685 (GRCm39) |
S744T |
possibly damaging |
Het |
Usp33 |
T |
A |
3: 152,097,999 (GRCm39) |
L909* |
probably null |
Het |
Vcan |
A |
G |
13: 89,869,805 (GRCm39) |
I210T |
probably damaging |
Het |
Vcan |
A |
T |
13: 89,879,576 (GRCm39) |
|
probably null |
Het |
Vsig10l |
A |
T |
7: 43,113,099 (GRCm39) |
D17V |
probably benign |
Het |
Zbtb7b |
T |
A |
3: 89,286,976 (GRCm39) |
T498S |
probably benign |
Het |
Zfp366 |
T |
A |
13: 99,366,076 (GRCm39) |
H412Q |
probably damaging |
Het |
Zfp53 |
C |
A |
17: 21,729,840 (GRCm39) |
D624E |
probably damaging |
Het |
Zfp827 |
A |
T |
8: 79,916,721 (GRCm39) |
D432V |
|
Het |
Zic1 |
T |
C |
9: 91,247,028 (GRCm39) |
T15A |
probably damaging |
Het |
Zswim8 |
T |
C |
14: 20,770,036 (GRCm39) |
C1368R |
probably damaging |
Het |
|
Other mutations in Cacna1d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00494:Cacna1d
|
APN |
14 |
29,818,907 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00857:Cacna1d
|
APN |
14 |
30,072,638 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01015:Cacna1d
|
APN |
14 |
29,773,699 (GRCm39) |
splice site |
probably benign |
|
IGL01420:Cacna1d
|
APN |
14 |
29,773,595 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01470:Cacna1d
|
APN |
14 |
29,821,099 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01560:Cacna1d
|
APN |
14 |
29,821,163 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01617:Cacna1d
|
APN |
14 |
29,824,328 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01820:Cacna1d
|
APN |
14 |
29,764,823 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL01948:Cacna1d
|
APN |
14 |
29,846,751 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02702:Cacna1d
|
APN |
14 |
29,845,490 (GRCm39) |
nonsense |
probably null |
|
IGL02864:Cacna1d
|
APN |
14 |
29,773,663 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03082:Cacna1d
|
APN |
14 |
29,821,190 (GRCm39) |
missense |
probably damaging |
1.00 |
Brisk
|
UTSW |
14 |
29,893,271 (GRCm39) |
missense |
possibly damaging |
0.91 |
Troppo
|
UTSW |
14 |
29,845,411 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4651001:Cacna1d
|
UTSW |
14 |
29,900,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Cacna1d
|
UTSW |
14 |
29,836,928 (GRCm39) |
missense |
probably benign |
0.00 |
R0015:Cacna1d
|
UTSW |
14 |
29,836,928 (GRCm39) |
missense |
probably benign |
0.00 |
R0033:Cacna1d
|
UTSW |
14 |
29,827,446 (GRCm39) |
missense |
probably damaging |
0.99 |
R0047:Cacna1d
|
UTSW |
14 |
30,068,747 (GRCm39) |
splice site |
probably benign |
|
R0047:Cacna1d
|
UTSW |
14 |
30,068,747 (GRCm39) |
splice site |
probably benign |
|
R0051:Cacna1d
|
UTSW |
14 |
29,833,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R0051:Cacna1d
|
UTSW |
14 |
29,833,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R0067:Cacna1d
|
UTSW |
14 |
29,796,967 (GRCm39) |
unclassified |
probably benign |
|
R0067:Cacna1d
|
UTSW |
14 |
29,796,967 (GRCm39) |
unclassified |
probably benign |
|
R0238:Cacna1d
|
UTSW |
14 |
29,845,453 (GRCm39) |
missense |
probably benign |
0.29 |
R0238:Cacna1d
|
UTSW |
14 |
29,845,453 (GRCm39) |
missense |
probably benign |
0.29 |
R0239:Cacna1d
|
UTSW |
14 |
29,845,453 (GRCm39) |
missense |
probably benign |
0.29 |
R0239:Cacna1d
|
UTSW |
14 |
29,845,453 (GRCm39) |
missense |
probably benign |
0.29 |
R0240:Cacna1d
|
UTSW |
14 |
29,818,926 (GRCm39) |
missense |
probably benign |
0.00 |
R0240:Cacna1d
|
UTSW |
14 |
29,818,926 (GRCm39) |
missense |
probably benign |
0.00 |
R0284:Cacna1d
|
UTSW |
14 |
29,794,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R0416:Cacna1d
|
UTSW |
14 |
29,822,645 (GRCm39) |
splice site |
probably benign |
|
R0427:Cacna1d
|
UTSW |
14 |
30,068,774 (GRCm39) |
missense |
probably damaging |
0.99 |
R0517:Cacna1d
|
UTSW |
14 |
29,901,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R0639:Cacna1d
|
UTSW |
14 |
29,893,251 (GRCm39) |
critical splice donor site |
probably null |
|
R0727:Cacna1d
|
UTSW |
14 |
29,852,072 (GRCm39) |
critical splice donor site |
probably null |
|
R0732:Cacna1d
|
UTSW |
14 |
29,764,877 (GRCm39) |
missense |
probably damaging |
0.99 |
R0843:Cacna1d
|
UTSW |
14 |
29,846,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R0900:Cacna1d
|
UTSW |
14 |
29,833,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R1278:Cacna1d
|
UTSW |
14 |
29,900,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R1340:Cacna1d
|
UTSW |
14 |
29,794,024 (GRCm39) |
missense |
probably damaging |
0.96 |
R1527:Cacna1d
|
UTSW |
14 |
29,829,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R1711:Cacna1d
|
UTSW |
14 |
29,788,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R1736:Cacna1d
|
UTSW |
14 |
29,811,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R1763:Cacna1d
|
UTSW |
14 |
29,821,153 (GRCm39) |
missense |
probably benign |
0.25 |
R2034:Cacna1d
|
UTSW |
14 |
29,811,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R2086:Cacna1d
|
UTSW |
14 |
29,769,314 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2126:Cacna1d
|
UTSW |
14 |
29,845,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R2218:Cacna1d
|
UTSW |
14 |
29,845,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R2219:Cacna1d
|
UTSW |
14 |
29,764,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R2262:Cacna1d
|
UTSW |
14 |
30,212,973 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2291:Cacna1d
|
UTSW |
14 |
29,764,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R2399:Cacna1d
|
UTSW |
14 |
29,774,444 (GRCm39) |
missense |
probably benign |
0.34 |
R2424:Cacna1d
|
UTSW |
14 |
29,770,980 (GRCm39) |
missense |
probably damaging |
0.96 |
R2568:Cacna1d
|
UTSW |
14 |
29,804,468 (GRCm39) |
missense |
probably damaging |
0.99 |
R4038:Cacna1d
|
UTSW |
14 |
29,788,040 (GRCm39) |
missense |
probably damaging |
0.96 |
R4509:Cacna1d
|
UTSW |
14 |
29,818,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R4649:Cacna1d
|
UTSW |
14 |
29,817,365 (GRCm39) |
missense |
probably benign |
|
R4650:Cacna1d
|
UTSW |
14 |
29,817,365 (GRCm39) |
missense |
probably benign |
|
R4652:Cacna1d
|
UTSW |
14 |
29,817,365 (GRCm39) |
missense |
probably benign |
|
R5009:Cacna1d
|
UTSW |
14 |
29,801,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R5058:Cacna1d
|
UTSW |
14 |
29,836,201 (GRCm39) |
nonsense |
probably null |
|
R5063:Cacna1d
|
UTSW |
14 |
29,773,340 (GRCm39) |
missense |
probably benign |
|
R5138:Cacna1d
|
UTSW |
14 |
30,212,929 (GRCm39) |
missense |
probably benign |
|
R5151:Cacna1d
|
UTSW |
14 |
29,845,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R5278:Cacna1d
|
UTSW |
14 |
30,074,881 (GRCm39) |
critical splice donor site |
probably null |
|
R5286:Cacna1d
|
UTSW |
14 |
30,072,682 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5313:Cacna1d
|
UTSW |
14 |
30,068,798 (GRCm39) |
missense |
probably benign |
0.38 |
R5383:Cacna1d
|
UTSW |
14 |
29,767,236 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5387:Cacna1d
|
UTSW |
14 |
29,822,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R5514:Cacna1d
|
UTSW |
14 |
30,072,790 (GRCm39) |
nonsense |
probably null |
|
R5524:Cacna1d
|
UTSW |
14 |
29,764,086 (GRCm39) |
missense |
probably benign |
0.01 |
R5663:Cacna1d
|
UTSW |
14 |
29,845,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R5712:Cacna1d
|
UTSW |
14 |
29,796,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R5796:Cacna1d
|
UTSW |
14 |
29,788,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R5906:Cacna1d
|
UTSW |
14 |
29,818,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R5923:Cacna1d
|
UTSW |
14 |
29,833,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R5936:Cacna1d
|
UTSW |
14 |
29,893,271 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5938:Cacna1d
|
UTSW |
14 |
29,825,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R6041:Cacna1d
|
UTSW |
14 |
29,764,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R6432:Cacna1d
|
UTSW |
14 |
29,845,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R6486:Cacna1d
|
UTSW |
14 |
29,836,190 (GRCm39) |
missense |
probably benign |
0.01 |
R6600:Cacna1d
|
UTSW |
14 |
29,836,192 (GRCm39) |
missense |
probably benign |
0.15 |
R6661:Cacna1d
|
UTSW |
14 |
29,811,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R6753:Cacna1d
|
UTSW |
14 |
29,764,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R6804:Cacna1d
|
UTSW |
14 |
29,773,622 (GRCm39) |
missense |
probably benign |
0.00 |
R6851:Cacna1d
|
UTSW |
14 |
29,764,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R6863:Cacna1d
|
UTSW |
14 |
29,797,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R6916:Cacna1d
|
UTSW |
14 |
29,817,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R6925:Cacna1d
|
UTSW |
14 |
29,773,594 (GRCm39) |
missense |
probably benign |
|
R7066:Cacna1d
|
UTSW |
14 |
30,074,935 (GRCm39) |
intron |
probably benign |
|
R7188:Cacna1d
|
UTSW |
14 |
29,811,790 (GRCm39) |
missense |
probably benign |
|
R7242:Cacna1d
|
UTSW |
14 |
29,900,663 (GRCm39) |
missense |
probably benign |
0.00 |
R7249:Cacna1d
|
UTSW |
14 |
29,864,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R7274:Cacna1d
|
UTSW |
14 |
29,864,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R7336:Cacna1d
|
UTSW |
14 |
29,767,239 (GRCm39) |
missense |
probably benign |
0.18 |
R7343:Cacna1d
|
UTSW |
14 |
29,845,014 (GRCm39) |
missense |
probably benign |
0.02 |
R7411:Cacna1d
|
UTSW |
14 |
30,074,947 (GRCm39) |
start codon destroyed |
probably null |
|
R7461:Cacna1d
|
UTSW |
14 |
29,788,120 (GRCm39) |
missense |
probably benign |
0.05 |
R7534:Cacna1d
|
UTSW |
14 |
29,801,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7613:Cacna1d
|
UTSW |
14 |
29,788,120 (GRCm39) |
missense |
probably benign |
0.05 |
R7661:Cacna1d
|
UTSW |
14 |
29,769,177 (GRCm39) |
missense |
probably benign |
0.07 |
R7754:Cacna1d
|
UTSW |
14 |
29,797,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R7759:Cacna1d
|
UTSW |
14 |
29,821,145 (GRCm39) |
missense |
probably benign |
0.01 |
R7784:Cacna1d
|
UTSW |
14 |
29,845,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R7808:Cacna1d
|
UTSW |
14 |
29,833,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R7965:Cacna1d
|
UTSW |
14 |
29,769,270 (GRCm39) |
nonsense |
probably null |
|
R8225:Cacna1d
|
UTSW |
14 |
29,844,990 (GRCm39) |
missense |
probably benign |
0.23 |
R8259:Cacna1d
|
UTSW |
14 |
29,773,475 (GRCm39) |
missense |
probably benign |
|
R8348:Cacna1d
|
UTSW |
14 |
29,824,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R8448:Cacna1d
|
UTSW |
14 |
29,824,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R8822:Cacna1d
|
UTSW |
14 |
29,900,692 (GRCm39) |
missense |
probably benign |
0.02 |
R8848:Cacna1d
|
UTSW |
14 |
29,845,283 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9122:Cacna1d
|
UTSW |
14 |
29,852,125 (GRCm39) |
missense |
probably benign |
0.00 |
R9122:Cacna1d
|
UTSW |
14 |
29,845,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R9169:Cacna1d
|
UTSW |
14 |
29,796,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R9199:Cacna1d
|
UTSW |
14 |
29,764,893 (GRCm39) |
missense |
probably benign |
0.26 |
R9203:Cacna1d
|
UTSW |
14 |
29,773,669 (GRCm39) |
missense |
probably benign |
0.04 |
R9263:Cacna1d
|
UTSW |
14 |
29,796,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R9346:Cacna1d
|
UTSW |
14 |
29,818,880 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9444:Cacna1d
|
UTSW |
14 |
29,829,741 (GRCm39) |
critical splice donor site |
probably null |
|
R9487:Cacna1d
|
UTSW |
14 |
29,845,419 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9542:Cacna1d
|
UTSW |
14 |
29,845,316 (GRCm39) |
missense |
probably benign |
0.00 |
R9651:Cacna1d
|
UTSW |
14 |
29,764,881 (GRCm39) |
missense |
probably benign |
0.00 |
R9785:Cacna1d
|
UTSW |
14 |
29,824,300 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Cacna1d
|
UTSW |
14 |
29,833,073 (GRCm39) |
missense |
probably benign |
0.15 |
Z1176:Cacna1d
|
UTSW |
14 |
29,901,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATAATTTTCCAAACCCCAGG -3'
(R):5'- ATTCCATGCCCTGCAGTTAGG -3'
Sequencing Primer
(F):5'- CGGAGCAGAGTGACCACATC -3'
(R):5'- CTGCAGTTAGGAGGCAGATAAC -3'
|
Posted On |
2019-06-26 |