Incidental Mutation 'R5366:Cacna2d4'
| ID |
429334 |
| 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 |
042944-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5366 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119251279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 489
(D489G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037434]
[ENSMUST00000186622]
|
| AlphaFold |
Q5RJF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037434
AA Change: D489G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: D489G
| 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 |
noncoding transcript
Transcript: ENSMUST00000186176
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186622
AA Change: D489G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: D489G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191331
|
| Meta Mutation Damage Score |
0.5562 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
100% (77/77) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,831,665 (GRCm39) |
N1229S |
possibly damaging |
Het |
| Adgre1 |
G |
A |
17: 57,709,817 (GRCm39) |
C158Y |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,994,099 (GRCm39) |
S5128T |
possibly damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,542,841 (GRCm39) |
C322* |
probably null |
Het |
| Ano1 |
T |
A |
7: 144,207,946 (GRCm39) |
T113S |
possibly damaging |
Het |
| Apeh |
A |
T |
9: 107,969,005 (GRCm39) |
S321T |
probably benign |
Het |
| Atg4d |
T |
A |
9: 21,179,948 (GRCm39) |
V273D |
probably damaging |
Het |
| Cd47 |
T |
C |
16: 49,716,736 (GRCm39) |
F256L |
probably damaging |
Het |
| Cd84 |
A |
T |
1: 171,700,872 (GRCm39) |
D211V |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,230,802 (GRCm39) |
L942P |
probably damaging |
Het |
| Cfh |
A |
C |
1: 140,063,973 (GRCm39) |
C434W |
probably damaging |
Het |
| Chst2 |
T |
C |
9: 95,287,518 (GRCm39) |
D276G |
probably damaging |
Het |
| Ctsq |
T |
C |
13: 61,184,913 (GRCm39) |
T258A |
probably benign |
Het |
| Degs1 |
C |
A |
1: 182,106,927 (GRCm39) |
D111Y |
probably benign |
Het |
| Dhps |
T |
A |
8: 85,801,413 (GRCm39) |
D313E |
probably damaging |
Het |
| Dipk1c |
T |
A |
18: 84,748,720 (GRCm39) |
L106Q |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,815,615 (GRCm39) |
C1645R |
probably damaging |
Het |
| Efcab7 |
A |
C |
4: 99,761,931 (GRCm39) |
D407A |
possibly damaging |
Het |
| Eif3a |
G |
T |
19: 60,767,971 (GRCm39) |
T189N |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,500,301 (GRCm39) |
L57M |
probably benign |
Het |
| Exoc6b |
T |
A |
6: 84,867,513 (GRCm39) |
I300L |
probably benign |
Het |
| Fzd8 |
T |
C |
18: 9,213,880 (GRCm39) |
S321P |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,941,713 (GRCm39) |
M657K |
possibly damaging |
Het |
| Gm9920 |
T |
A |
15: 54,975,705 (GRCm39) |
|
probably benign |
Het |
| Gucy2c |
A |
G |
6: 136,697,739 (GRCm39) |
I668T |
probably damaging |
Het |
| Irgc |
C |
T |
7: 24,132,851 (GRCm39) |
|
probably benign |
Het |
| Jsrp1 |
G |
T |
10: 80,646,030 (GRCm39) |
S143* |
probably null |
Het |
| Kctd4 |
T |
C |
14: 76,200,259 (GRCm39) |
Y77H |
probably damaging |
Het |
| Klhdc1 |
T |
A |
12: 69,329,924 (GRCm39) |
I351N |
probably damaging |
Het |
| Klra17 |
C |
T |
6: 129,851,858 (GRCm39) |
E5K |
possibly damaging |
Het |
| Mapk8 |
A |
T |
14: 33,112,686 (GRCm39) |
V211E |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,326,725 (GRCm39) |
Y1208H |
probably benign |
Het |
| Mrps16 |
A |
T |
14: 20,441,523 (GRCm39) |
S94T |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,361,287 (GRCm39) |
T1533A |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,651,518 (GRCm39) |
D287V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,971,086 (GRCm39) |
T2476A |
probably damaging |
Het |
| Olfm2 |
T |
A |
9: 20,579,708 (GRCm39) |
T356S |
probably benign |
Het |
| Or4f60 |
T |
C |
2: 111,902,823 (GRCm39) |
Y35C |
possibly damaging |
Het |
| P2rx2 |
T |
A |
5: 110,489,694 (GRCm39) |
N108I |
probably damaging |
Het |
| Pbx4 |
A |
T |
8: 70,322,820 (GRCm39) |
T309S |
probably benign |
Het |
| Phyhip |
C |
A |
14: 70,704,295 (GRCm39) |
H171Q |
probably benign |
Het |
| Pou4f3 |
A |
G |
18: 42,528,819 (GRCm39) |
E254G |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,052,899 (GRCm39) |
H845Q |
probably damaging |
Het |
| Rgcc |
T |
C |
14: 79,529,123 (GRCm39) |
T111A |
probably benign |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
C |
A |
5: 113,398,905 (GRCm39) |
E722D |
possibly damaging |
Het |
| Soat1 |
A |
T |
1: 156,272,181 (GRCm39) |
D101E |
probably benign |
Het |
| Spag5 |
T |
A |
11: 78,211,152 (GRCm39) |
|
probably null |
Het |
| Spata31 |
A |
T |
13: 65,068,273 (GRCm39) |
E140D |
probably damaging |
Het |
| Srrm2 |
T |
A |
17: 24,037,678 (GRCm39) |
S1537T |
probably benign |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Tbc1d4 |
G |
T |
14: 101,845,412 (GRCm39) |
T162K |
possibly damaging |
Het |
| Tmem163 |
A |
C |
1: 127,428,042 (GRCm39) |
|
probably benign |
Het |
| Tmem43 |
T |
C |
6: 91,455,240 (GRCm39) |
V72A |
probably benign |
Het |
| Tmprss11c |
G |
A |
5: 86,429,993 (GRCm39) |
T24I |
possibly damaging |
Het |
| Trerf1 |
A |
T |
17: 47,626,116 (GRCm39) |
|
noncoding transcript |
Het |
| Trim44 |
A |
G |
2: 102,230,476 (GRCm39) |
L185P |
probably damaging |
Het |
| Tspyl1 |
A |
G |
10: 34,158,341 (GRCm39) |
D22G |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tyro3 |
G |
A |
2: 119,635,312 (GRCm39) |
R201Q |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,930,741 (GRCm39) |
K206N |
probably benign |
Het |
| Usp17lb |
G |
T |
7: 104,489,615 (GRCm39) |
H436Q |
possibly damaging |
Het |
| Vps9d1 |
A |
G |
8: 123,971,853 (GRCm39) |
I584T |
possibly damaging |
Het |
| Vrk1 |
T |
A |
12: 106,022,078 (GRCm39) |
M131K |
possibly damaging |
Het |
| Wdr87-ps |
A |
C |
7: 29,232,964 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp827 |
A |
T |
8: 79,912,333 (GRCm39) |
K986N |
possibly damaging |
Het |
| Zswim4 |
A |
G |
8: 84,939,419 (GRCm39) |
M821T |
probably benign |
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 |
|
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 |
|
R7527:Cacna2d4
|
UTSW |
6 |
119,248,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- AGTGAGCATGGTCCCTACAGAG -3'
(R):5'- TCTGTTGCGCAGGGATCTAG -3'
Sequencing Primer
(F):5'- GGAACTGAGTAAAAGCTTGTCCTTTG -3'
(R):5'- ACGTGACAGAAGGCTTTTTGTCAC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation