Incidental Mutation 'R4856:Cacna2d4'
| ID |
373955 |
| 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 |
042467-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4856 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119255217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 578
(R578Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037434]
[ENSMUST00000186622]
|
| AlphaFold |
Q5RJF7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037434
AA Change: R578Q
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: R578Q
| 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
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
| 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: ENSMUST00000188239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190015
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp2 |
G |
A |
6: 140,589,799 (GRCm39) |
|
probably null |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp2b4 |
T |
A |
1: 133,634,518 (GRCm39) |
I1177L |
probably benign |
Het |
| Bub3 |
A |
T |
7: 131,163,297 (GRCm39) |
D76V |
probably damaging |
Het |
| Caprin2 |
A |
C |
6: 148,774,509 (GRCm39) |
S268A |
probably benign |
Het |
| Card6 |
T |
C |
15: 5,134,623 (GRCm39) |
|
probably null |
Het |
| Cdk13 |
A |
G |
13: 17,894,319 (GRCm39) |
S1103P |
probably benign |
Het |
| Cfap221 |
T |
C |
1: 119,861,934 (GRCm39) |
T614A |
probably damaging |
Het |
| Cfap221 |
T |
A |
1: 119,912,488 (GRCm39) |
Y133F |
probably damaging |
Het |
| Clcc1 |
A |
G |
3: 108,584,154 (GRCm39) |
T513A |
probably benign |
Het |
| Clec4g |
T |
A |
8: 3,766,419 (GRCm39) |
|
probably benign |
Het |
| Cntln |
A |
C |
4: 84,889,466 (GRCm39) |
E316D |
probably benign |
Het |
| Cpne2 |
T |
A |
8: 95,290,592 (GRCm39) |
D392E |
probably benign |
Het |
| Cry1 |
G |
T |
10: 84,984,634 (GRCm39) |
P147T |
probably damaging |
Het |
| Cyp4a29 |
T |
C |
4: 115,110,078 (GRCm39) |
V440A |
probably benign |
Het |
| Ddx46 |
A |
G |
13: 55,786,012 (GRCm39) |
D64G |
unknown |
Het |
| Dhx34 |
A |
G |
7: 15,949,367 (GRCm39) |
S354P |
possibly damaging |
Het |
| Ecm2 |
A |
T |
13: 49,676,263 (GRCm39) |
I327F |
possibly damaging |
Het |
| Elavl3 |
T |
C |
9: 21,937,614 (GRCm39) |
K189E |
possibly damaging |
Het |
| Enam |
A |
T |
5: 88,636,593 (GRCm39) |
R82* |
probably null |
Het |
| Erf |
A |
G |
7: 24,945,636 (GRCm39) |
V45A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,932,626 (GRCm39) |
I1436F |
probably benign |
Het |
| Flnc |
T |
C |
6: 29,447,889 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Ggta1 |
T |
A |
2: 35,292,803 (GRCm39) |
H180L |
possibly damaging |
Het |
| Grin2c |
T |
C |
11: 115,151,616 (GRCm39) |
T115A |
probably damaging |
Het |
| H6pd |
C |
T |
4: 150,067,235 (GRCm39) |
V384M |
possibly damaging |
Het |
| Hba-x |
A |
G |
11: 32,227,008 (GRCm39) |
E39G |
probably benign |
Het |
| Hnrnpul2 |
C |
T |
19: 8,807,191 (GRCm39) |
P618S |
probably benign |
Het |
| Hpse2 |
C |
T |
19: 42,777,396 (GRCm39) |
R590H |
probably damaging |
Het |
| Ighv1-54 |
C |
A |
12: 115,157,423 (GRCm39) |
G75C |
probably damaging |
Het |
| Ighv8-11 |
C |
A |
12: 115,530,774 (GRCm39) |
R118L |
possibly damaging |
Het |
| Iqcm |
A |
T |
8: 76,615,228 (GRCm39) |
R436S |
possibly damaging |
Het |
| Islr |
T |
C |
9: 58,064,889 (GRCm39) |
D206G |
probably damaging |
Het |
| Itih1 |
A |
G |
14: 30,658,658 (GRCm39) |
|
probably null |
Het |
| Jam2 |
G |
A |
16: 84,598,490 (GRCm39) |
D34N |
probably benign |
Het |
| Klhl14 |
A |
T |
18: 21,691,029 (GRCm39) |
|
probably null |
Het |
| Lama2 |
TTTGCGCATT |
TTT |
10: 26,919,639 (GRCm39) |
|
probably null |
Het |
| Lrrc66 |
A |
G |
5: 73,765,910 (GRCm39) |
F378L |
probably benign |
Het |
| Map10 |
T |
A |
8: 126,397,431 (GRCm39) |
Y275N |
probably damaging |
Het |
| Mpi |
T |
C |
9: 57,452,590 (GRCm39) |
Y314C |
probably damaging |
Het |
| Mpp3 |
A |
G |
11: 101,915,962 (GRCm39) |
Y55H |
probably benign |
Het |
| Nectin4 |
T |
C |
1: 171,212,383 (GRCm39) |
V327A |
possibly damaging |
Het |
| Nlrp12 |
T |
A |
7: 3,289,072 (GRCm39) |
D480V |
probably damaging |
Het |
| Nolc1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,071,594 (GRCm39) |
|
probably benign |
Het |
| Notch2 |
A |
T |
3: 98,009,735 (GRCm39) |
Y554F |
probably damaging |
Het |
| Nrsn2 |
T |
C |
2: 152,211,531 (GRCm39) |
K167E |
probably benign |
Het |
| Olr1 |
T |
A |
6: 129,470,559 (GRCm39) |
K203* |
probably null |
Het |
| Or14j8 |
A |
T |
17: 38,262,962 (GRCm39) |
S318T |
probably benign |
Het |
| Or2ag13 |
T |
A |
7: 106,473,177 (GRCm39) |
I92F |
probably damaging |
Het |
| Or5b117 |
T |
C |
19: 13,431,885 (GRCm39) |
|
probably null |
Het |
| Or8b3 |
A |
T |
9: 38,314,764 (GRCm39) |
N195I |
probably damaging |
Het |
| Or9i2 |
T |
A |
19: 13,815,643 (GRCm39) |
E298V |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,925,564 (GRCm39) |
N485S |
probably benign |
Het |
| Pbk |
T |
A |
14: 66,052,650 (GRCm39) |
H164Q |
probably damaging |
Het |
| Pfn2 |
G |
T |
3: 57,754,874 (GRCm39) |
N10K |
probably damaging |
Het |
| Pik3ca |
A |
G |
3: 32,491,312 (GRCm39) |
D133G |
probably damaging |
Het |
| Pramel27 |
G |
T |
4: 143,579,873 (GRCm39) |
R486L |
probably benign |
Het |
| Prl6a1 |
A |
T |
13: 27,502,983 (GRCm39) |
D193V |
probably damaging |
Het |
| Rad21 |
G |
T |
15: 51,831,896 (GRCm39) |
P395Q |
probably damaging |
Het |
| Reps1 |
T |
A |
10: 17,999,373 (GRCm39) |
I720N |
probably damaging |
Het |
| Rpn2 |
T |
C |
2: 157,159,964 (GRCm39) |
|
probably null |
Het |
| Rreb1 |
G |
A |
13: 38,115,034 (GRCm39) |
V798M |
possibly damaging |
Het |
| Sardh |
C |
T |
2: 27,134,489 (GRCm39) |
R9H |
probably benign |
Het |
| Scgb3a2 |
C |
T |
18: 43,899,819 (GRCm39) |
P36S |
probably damaging |
Het |
| Scn10a |
C |
A |
9: 119,523,375 (GRCm39) |
G6V |
possibly damaging |
Het |
| Scn10a |
C |
T |
9: 119,523,376 (GRCm39) |
G6R |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,291,376 (GRCm39) |
D1790G |
probably damaging |
Het |
| Sec24b |
A |
T |
3: 129,777,619 (GRCm39) |
H1226Q |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc12a3 |
G |
A |
8: 95,078,438 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
T |
C |
14: 110,989,315 (GRCm39) |
T131A |
probably damaging |
Het |
| Spata1 |
C |
G |
3: 146,175,529 (GRCm39) |
D326H |
probably damaging |
Het |
| Tex52 |
A |
T |
6: 128,361,951 (GRCm39) |
|
probably null |
Het |
| Tma16 |
A |
C |
8: 66,934,129 (GRCm39) |
C75W |
probably damaging |
Het |
| Tmem67 |
G |
A |
4: 12,089,416 (GRCm39) |
|
probably benign |
Het |
| Trgv4 |
T |
C |
13: 19,369,236 (GRCm39) |
V29A |
probably benign |
Het |
| Trmt10a |
A |
T |
3: 137,854,146 (GRCm39) |
K75* |
probably null |
Het |
| Ttc3 |
T |
C |
16: 94,191,142 (GRCm39) |
V228A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,561,644 (GRCm39) |
D28954G |
probably damaging |
Het |
| Uggt2 |
A |
G |
14: 119,273,376 (GRCm39) |
|
probably null |
Het |
| Vars1 |
T |
A |
17: 35,234,702 (GRCm39) |
V1177E |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,532 (GRCm39) |
D76G |
possibly damaging |
Het |
| Vmn2r114 |
G |
T |
17: 23,527,008 (GRCm39) |
A508E |
probably benign |
Het |
| Vps41 |
G |
A |
13: 19,013,425 (GRCm39) |
V348M |
probably damaging |
Het |
| Zbtb43 |
T |
C |
2: 33,343,944 (GRCm39) |
H427R |
probably damaging |
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 |
|
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 |
|
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'- TAGGTGGAAGCATGACCCTC -3'
(R):5'- ATTCTCACAAGCCCAGCCTG -3'
Sequencing Primer
(F):5'- AAGCATGACCCTCCCTGG -3'
(R):5'- AGCCCAGCCTGTATCACCTG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation