Incidental Mutation 'R7527:Cacna2d4'
| ID |
583059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna2d4
|
| Ensembl Gene |
ENSMUSG00000041460 |
| Gene Name |
calcium channel, voltage-dependent, alpha 2/delta subunit 4 |
| Synonyms |
5730412N02Rik |
| MMRRC Submission |
045599-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7527 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119248208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 374
(V374A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037434]
[ENSMUST00000186622]
|
| AlphaFold |
Q5RJF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037434
AA Change: V374A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: V374A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WNT1
|
79 |
144 |
1e-13 |
BLAST |
|
Pfam:VWA_N
|
155 |
271 |
7.3e-40 |
PFAM |
|
VWA
|
296 |
481 |
4.37e-14 |
SMART |
|
Pfam:Cache_1
|
494 |
586 |
1.1e-24 |
PFAM |
|
low complexity region
|
837 |
849 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
984 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1011 |
N/A |
INTRINSIC |
|
low complexity region
|
1120 |
1143 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186622
AA Change: V374A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: V374A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WNT1
|
79 |
144 |
1e-13 |
BLAST |
|
Pfam:VWA_N
|
155 |
271 |
6.4e-44 |
PFAM |
|
VWA
|
296 |
481 |
2.7e-16 |
SMART |
|
Pfam:Cache_1
|
494 |
559 |
1.1e-7 |
PFAM |
|
low complexity region
|
812 |
824 |
N/A |
INTRINSIC |
|
low complexity region
|
950 |
959 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
986 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1118 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit severe loss of retinal signaling associated with abnormal photoreceptor ribbon synapses and cone-rod dysfunction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,218,556 (GRCm39) |
|
probably null |
Het |
| Abcc10 |
A |
G |
17: 46,623,830 (GRCm39) |
S810P |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,132,239 (GRCm39) |
H138R |
possibly damaging |
Het |
| Adcyap1 |
T |
A |
17: 93,510,257 (GRCm39) |
L95* |
probably null |
Het |
| Adgrl4 |
C |
A |
3: 151,144,887 (GRCm39) |
T12N |
probably benign |
Het |
| Alpi |
T |
C |
1: 87,026,677 (GRCm39) |
N438S |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,687,483 (GRCm39) |
N979D |
probably benign |
Het |
| Ankrd60 |
A |
C |
2: 173,419,966 (GRCm39) |
S57A |
probably benign |
Het |
| Arfgef3 |
G |
A |
10: 18,522,377 (GRCm39) |
P550S |
probably benign |
Het |
| Btbd16 |
A |
T |
7: 130,422,202 (GRCm39) |
D390V |
probably damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,014,172 (GRCm39) |
F201I |
probably benign |
Het |
| Cdh15 |
A |
T |
8: 123,588,865 (GRCm39) |
D313V |
probably damaging |
Het |
| Cfap157 |
A |
G |
2: 32,669,890 (GRCm39) |
L231P |
possibly damaging |
Het |
| Chl1 |
T |
G |
6: 103,688,162 (GRCm39) |
C1001G |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,948,770 (GRCm39) |
H360R |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,261,732 (GRCm39) |
A922T |
probably damaging |
Het |
| Fancg |
C |
T |
4: 43,010,116 (GRCm39) |
|
probably benign |
Het |
| Glt8d2 |
A |
T |
10: 82,488,403 (GRCm39) |
S356T |
unknown |
Het |
| Gm19410 |
T |
A |
8: 36,269,386 (GRCm39) |
C1074S |
probably damaging |
Het |
| Gm9195 |
C |
T |
14: 72,711,310 (GRCm39) |
C376Y |
possibly damaging |
Het |
| Gnai3 |
G |
A |
3: 108,025,693 (GRCm39) |
R129C |
|
Het |
| Golph3 |
T |
G |
15: 12,343,404 (GRCm39) |
|
probably null |
Het |
| H2bc18 |
T |
A |
3: 96,177,186 (GRCm39) |
V40D |
possibly damaging |
Het |
| Hk1 |
C |
A |
10: 62,140,561 (GRCm39) |
V105F |
probably damaging |
Het |
| Hoxd8 |
A |
G |
2: 74,536,001 (GRCm39) |
Y37C |
probably damaging |
Het |
| Inava |
T |
A |
1: 136,142,122 (GRCm39) |
D659V |
possibly damaging |
Het |
| Jun |
G |
T |
4: 94,939,234 (GRCm39) |
P92Q |
probably damaging |
Het |
| Klhl14 |
C |
T |
18: 21,784,597 (GRCm39) |
V277I |
probably damaging |
Het |
| Lrrc51 |
C |
T |
7: 101,569,843 (GRCm39) |
|
probably null |
Het |
| Man2c1 |
T |
A |
9: 57,045,100 (GRCm39) |
Y429* |
probably null |
Het |
| Myo18a |
T |
A |
11: 77,734,406 (GRCm39) |
C1476S |
probably benign |
Het |
| Neb |
G |
C |
2: 52,066,635 (GRCm39) |
T6155R |
probably damaging |
Het |
| Niban3 |
C |
G |
8: 72,059,342 (GRCm39) |
C568W |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,326,422 (GRCm39) |
E443G |
possibly damaging |
Het |
| Or10j5 |
C |
T |
1: 172,784,511 (GRCm39) |
H50Y |
probably benign |
Het |
| Or4c15 |
A |
G |
2: 88,760,434 (GRCm39) |
V75A |
probably benign |
Het |
| Or5d37 |
A |
T |
2: 87,923,954 (GRCm39) |
C109S |
probably damaging |
Het |
| Or7g32 |
A |
G |
9: 19,408,685 (GRCm39) |
I214V |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,856,603 (GRCm39) |
S515P |
probably damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,367,177 (GRCm39) |
L84P |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,736,273 (GRCm39) |
I538T |
probably damaging |
Het |
| Plxnb1 |
G |
T |
9: 108,929,929 (GRCm39) |
V262L |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,057,804 (GRCm39) |
S1320P |
unknown |
Het |
| Pramel47 |
A |
G |
5: 95,490,409 (GRCm39) |
D347G |
probably benign |
Het |
| Prap1 |
G |
A |
7: 139,676,120 (GRCm39) |
|
probably null |
Het |
| Psg23 |
A |
T |
7: 18,348,699 (GRCm39) |
V36D |
probably damaging |
Het |
| Ptgr1 |
A |
G |
4: 58,982,887 (GRCm39) |
Y49H |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,087,104 (GRCm39) |
T528A |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,525,787 (GRCm39) |
S541P |
unknown |
Het |
| Rnf17 |
A |
T |
14: 56,753,895 (GRCm39) |
D1534V |
probably damaging |
Het |
| Sdk1 |
T |
G |
5: 141,778,731 (GRCm39) |
S236R |
possibly damaging |
Het |
| Sepsecs |
A |
G |
5: 52,801,393 (GRCm39) |
M423T |
possibly damaging |
Het |
| Serpina1f |
T |
G |
12: 103,658,167 (GRCm39) |
Y246S |
probably benign |
Het |
| Sftpb |
T |
A |
6: 72,282,048 (GRCm39) |
V46E |
possibly damaging |
Het |
| Slc4a1ap |
G |
A |
5: 31,691,475 (GRCm39) |
V424I |
probably benign |
Het |
| Slc5a4b |
G |
A |
10: 75,946,742 (GRCm39) |
T10M |
probably benign |
Het |
| Slc6a16 |
T |
C |
7: 44,922,063 (GRCm39) |
W664R |
probably damaging |
Het |
| Snx8 |
T |
C |
5: 140,341,827 (GRCm39) |
E138G |
probably benign |
Het |
| Sox6 |
T |
C |
7: 115,376,408 (GRCm39) |
E108G |
probably benign |
Het |
| Sptan1 |
A |
T |
2: 29,870,209 (GRCm39) |
I120F |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,075,015 (GRCm39) |
E1452G |
possibly damaging |
Het |
| Stac2 |
T |
A |
11: 97,930,452 (GRCm39) |
E372V |
probably damaging |
Het |
| Taco1 |
A |
T |
11: 105,962,795 (GRCm39) |
I161F |
probably damaging |
Het |
| Taf1d |
C |
A |
9: 15,220,133 (GRCm39) |
D127E |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 36,097,803 (GRCm39) |
N482Y |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,729,635 (GRCm39) |
V1457A |
possibly damaging |
Het |
| Tmem200c |
A |
T |
17: 69,148,671 (GRCm39) |
H418L |
probably benign |
Het |
| Tmem81 |
T |
C |
1: 132,435,884 (GRCm39) |
V230A |
probably benign |
Het |
| Tnn |
C |
T |
1: 159,946,074 (GRCm39) |
V915I |
possibly damaging |
Het |
| Trav8d-2 |
A |
T |
14: 53,280,154 (GRCm39) |
Y48F |
possibly damaging |
Het |
| Trpm2 |
T |
C |
10: 77,801,894 (GRCm39) |
N57S |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,598,383 (GRCm39) |
T19510M |
probably damaging |
Het |
| Ubl7 |
T |
C |
9: 57,820,167 (GRCm39) |
L73P |
unknown |
Het |
| Uso1 |
A |
G |
5: 92,347,734 (GRCm39) |
D845G |
possibly damaging |
Het |
| Utrn |
G |
T |
10: 12,277,126 (GRCm39) |
P3397Q |
possibly damaging |
Het |
| Vmn2r60 |
AG |
A |
7: 41,845,158 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cacna2d4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Cacna2d4
|
APN |
6 |
119,314,894 (GRCm39) |
splice site |
probably benign |
|
|
IGL00469:Cacna2d4
|
APN |
6 |
119,245,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00518:Cacna2d4
|
APN |
6 |
119,320,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00946:Cacna2d4
|
APN |
6 |
119,248,876 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01447:Cacna2d4
|
APN |
6 |
119,219,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01514:Cacna2d4
|
APN |
6 |
119,259,134 (GRCm39) |
splice site |
probably benign |
|
|
IGL01576:Cacna2d4
|
APN |
6 |
119,258,602 (GRCm39) |
nonsense |
probably null |
|
|
IGL01934:Cacna2d4
|
APN |
6 |
119,285,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02231:Cacna2d4
|
APN |
6 |
119,254,869 (GRCm39) |
splice site |
probably benign |
|
|
IGL02516:Cacna2d4
|
APN |
6 |
119,248,831 (GRCm39) |
splice site |
probably benign |
|
|
IGL02688:Cacna2d4
|
APN |
6 |
119,247,710 (GRCm39) |
splice site |
probably null |
|
|
IGL03110:Cacna2d4
|
APN |
6 |
119,213,698 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03365:Cacna2d4
|
APN |
6 |
119,248,225 (GRCm39) |
missense |
probably benign |
0.15 |
|
saccharine
|
UTSW |
6 |
119,322,067 (GRCm39) |
splice site |
probably benign |
|
|
Steveo
|
UTSW |
6 |
119,324,213 (GRCm39) |
critical splice donor site |
probably null |
|
|
Sussmann
|
UTSW |
6 |
119,251,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0139:Cacna2d4
|
UTSW |
6 |
119,255,230 (GRCm39) |
intron |
probably benign |
|
|
R0157:Cacna2d4
|
UTSW |
6 |
119,289,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0158:Cacna2d4
|
UTSW |
6 |
119,213,709 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0245:Cacna2d4
|
UTSW |
6 |
119,285,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Cacna2d4
|
UTSW |
6 |
119,258,679 (GRCm39) |
splice site |
probably benign |
|
|
R0659:Cacna2d4
|
UTSW |
6 |
119,322,067 (GRCm39) |
splice site |
probably benign |
|
|
R0722:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0743:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0835:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0884:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1052:Cacna2d4
|
UTSW |
6 |
119,277,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1451:Cacna2d4
|
UTSW |
6 |
119,213,785 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1564:Cacna2d4
|
UTSW |
6 |
119,218,156 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1809:Cacna2d4
|
UTSW |
6 |
119,247,785 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1936:Cacna2d4
|
UTSW |
6 |
119,247,722 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2078:Cacna2d4
|
UTSW |
6 |
119,315,077 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2198:Cacna2d4
|
UTSW |
6 |
119,324,220 (GRCm39) |
splice site |
probably benign |
|
|
R2280:Cacna2d4
|
UTSW |
6 |
119,327,002 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3757:Cacna2d4
|
UTSW |
6 |
119,218,124 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3975:Cacna2d4
|
UTSW |
6 |
119,255,134 (GRCm39) |
splice site |
probably null |
|
|
R3976:Cacna2d4
|
UTSW |
6 |
119,255,134 (GRCm39) |
splice site |
probably null |
|
|
R4238:Cacna2d4
|
UTSW |
6 |
119,217,669 (GRCm39) |
missense |
probably null |
1.00 |
|
R4591:Cacna2d4
|
UTSW |
6 |
119,275,425 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4856:Cacna2d4
|
UTSW |
6 |
119,255,217 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4899:Cacna2d4
|
UTSW |
6 |
119,245,157 (GRCm39) |
nonsense |
probably null |
|
|
R5319:Cacna2d4
|
UTSW |
6 |
119,324,213 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5351:Cacna2d4
|
UTSW |
6 |
119,245,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5366:Cacna2d4
|
UTSW |
6 |
119,251,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5393:Cacna2d4
|
UTSW |
6 |
119,216,015 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5395:Cacna2d4
|
UTSW |
6 |
119,248,379 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5408:Cacna2d4
|
UTSW |
6 |
119,325,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5603:Cacna2d4
|
UTSW |
6 |
119,221,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5661:Cacna2d4
|
UTSW |
6 |
119,320,492 (GRCm39) |
missense |
probably benign |
|
|
R5898:Cacna2d4
|
UTSW |
6 |
119,251,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5928:Cacna2d4
|
UTSW |
6 |
119,258,659 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6186:Cacna2d4
|
UTSW |
6 |
119,258,650 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6218:Cacna2d4
|
UTSW |
6 |
119,216,021 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6257:Cacna2d4
|
UTSW |
6 |
119,258,580 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6409:Cacna2d4
|
UTSW |
6 |
119,259,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6931:Cacna2d4
|
UTSW |
6 |
119,259,195 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7221:Cacna2d4
|
UTSW |
6 |
119,213,624 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7363:Cacna2d4
|
UTSW |
6 |
119,320,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7371:Cacna2d4
|
UTSW |
6 |
119,285,670 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7382:Cacna2d4
|
UTSW |
6 |
119,216,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7431:Cacna2d4
|
UTSW |
6 |
119,221,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7517:Cacna2d4
|
UTSW |
6 |
119,248,882 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7529:Cacna2d4
|
UTSW |
6 |
119,247,727 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7710:Cacna2d4
|
UTSW |
6 |
119,251,200 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7880:Cacna2d4
|
UTSW |
6 |
119,326,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8007:Cacna2d4
|
UTSW |
6 |
119,289,405 (GRCm39) |
missense |
probably benign |
|
|
R8084:Cacna2d4
|
UTSW |
6 |
119,277,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8159:Cacna2d4
|
UTSW |
6 |
119,274,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8391:Cacna2d4
|
UTSW |
6 |
119,325,706 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8700:Cacna2d4
|
UTSW |
6 |
119,258,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:Cacna2d4
|
UTSW |
6 |
119,248,909 (GRCm39) |
nonsense |
probably null |
|
|
R8973:Cacna2d4
|
UTSW |
6 |
119,218,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8976:Cacna2d4
|
UTSW |
6 |
119,315,118 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8998:Cacna2d4
|
UTSW |
6 |
119,219,876 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9129:Cacna2d4
|
UTSW |
6 |
119,313,415 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9199:Cacna2d4
|
UTSW |
6 |
119,244,787 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9228:Cacna2d4
|
UTSW |
6 |
119,248,476 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9310:Cacna2d4
|
UTSW |
6 |
119,248,914 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9315:Cacna2d4
|
UTSW |
6 |
119,213,670 (GRCm39) |
missense |
probably benign |
|
|
R9335:Cacna2d4
|
UTSW |
6 |
119,279,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9416:Cacna2d4
|
UTSW |
6 |
119,274,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9514:Cacna2d4
|
UTSW |
6 |
119,213,611 (GRCm39) |
missense |
probably benign |
|
|
R9600:Cacna2d4
|
UTSW |
6 |
119,322,023 (GRCm39) |
missense |
probably benign |
0.02 |
|
RF023:Cacna2d4
|
UTSW |
6 |
119,245,191 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1176:Cacna2d4
|
UTSW |
6 |
119,289,411 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAAGTGAATGTGGTTGGC -3'
(R):5'- AAGCATGATGGCCTGGTTG -3'
Sequencing Primer
(F):5'- AATGTGGTTGGCTGCCCC -3'
(R):5'- ATGGCCTGGTTGCAGAGAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation