Incidental Mutation 'R7371:Cacna2d4'
| ID |
572075 |
| 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 |
045454-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7371 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119285670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 774
(I774N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037434]
[ENSMUST00000186622]
|
| AlphaFold |
Q5RJF7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037434
AA Change: I799N
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: I799N
| 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: I774N
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: I774N
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (88/90) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
A |
C |
12: 81,607,064 (GRCm39) |
S233A |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,571,067 (GRCm39) |
H1222L |
probably benign |
Het |
| Aftph |
T |
C |
11: 20,676,836 (GRCm39) |
T258A |
probably benign |
Het |
| Ano3 |
A |
C |
2: 110,715,194 (GRCm39) |
|
probably null |
Het |
| Aox4 |
A |
G |
1: 58,303,013 (GRCm39) |
D1148G |
probably damaging |
Het |
| Bcl11b |
A |
T |
12: 107,955,750 (GRCm39) |
I133N |
probably damaging |
Het |
| Borcs7 |
T |
A |
19: 46,688,057 (GRCm39) |
D67E |
probably damaging |
Het |
| Catsperd |
A |
T |
17: 56,957,801 (GRCm39) |
Y236F |
probably benign |
Het |
| Cblc |
T |
C |
7: 19,526,828 (GRCm39) |
S135G |
probably benign |
Het |
| Ccdc168 |
C |
A |
1: 44,100,537 (GRCm39) |
R187L |
probably benign |
Het |
| Ccdc178 |
A |
G |
18: 22,263,195 (GRCm39) |
V138A |
probably benign |
Het |
| Cd300ld |
C |
T |
11: 114,878,186 (GRCm39) |
G109R |
probably damaging |
Het |
| Cdh3 |
T |
A |
8: 107,279,109 (GRCm39) |
N690K |
probably damaging |
Het |
| Ceacam1 |
T |
A |
7: 25,174,145 (GRCm39) |
Y170F |
possibly damaging |
Het |
| Ceacam9 |
A |
C |
7: 16,457,652 (GRCm39) |
H55P |
possibly damaging |
Het |
| Celsr1 |
C |
T |
15: 85,914,875 (GRCm39) |
V1033I |
possibly damaging |
Het |
| Cep97 |
T |
C |
16: 55,725,683 (GRCm39) |
S807G |
probably benign |
Het |
| Ces1b |
A |
G |
8: 93,783,982 (GRCm39) |
|
probably null |
Het |
| Chn1 |
T |
C |
2: 73,510,234 (GRCm39) |
T92A |
probably damaging |
Het |
| Cimap1b |
C |
A |
15: 89,263,365 (GRCm39) |
W6L |
probably damaging |
Het |
| Cngb3 |
A |
C |
4: 19,425,575 (GRCm39) |
Y461S |
possibly damaging |
Het |
| Col24a1 |
A |
G |
3: 145,049,459 (GRCm39) |
N629S |
probably benign |
Het |
| Cpd |
T |
C |
11: 76,737,437 (GRCm39) |
D119G |
probably benign |
Het |
| Cpsf1 |
T |
C |
15: 76,484,775 (GRCm39) |
D594G |
probably damaging |
Het |
| Cpsf7 |
C |
T |
19: 10,509,203 (GRCm39) |
A38V |
probably benign |
Het |
| Cry1 |
A |
T |
10: 84,983,783 (GRCm39) |
H224Q |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,633,014 (GRCm39) |
D87E |
probably damaging |
Het |
| Cyp2u1 |
T |
A |
3: 131,087,144 (GRCm39) |
N479I |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,642,785 (GRCm39) |
N672D |
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,454,450 (GRCm39) |
V820A |
probably benign |
Het |
| Efnb2 |
T |
C |
8: 8,710,524 (GRCm39) |
I31V |
probably benign |
Het |
| Fgb |
T |
C |
3: 82,953,359 (GRCm39) |
Y137C |
probably damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,239,293 (GRCm39) |
V604A |
possibly damaging |
Het |
| Flii |
A |
T |
11: 60,609,090 (GRCm39) |
N682K |
probably benign |
Het |
| Fmo3 |
A |
G |
1: 162,781,796 (GRCm39) |
L519P |
possibly damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,607,385 (GRCm39) |
M538L |
probably benign |
Het |
| Gbp11 |
A |
G |
5: 105,489,971 (GRCm39) |
V69A |
probably benign |
Het |
| Ggn |
T |
A |
7: 28,871,605 (GRCm39) |
D364E |
probably benign |
Het |
| Gm10377 |
G |
A |
14: 42,614,853 (GRCm39) |
P171S |
probably benign |
Het |
| Gramd4 |
C |
T |
15: 86,019,607 (GRCm39) |
A625V |
probably benign |
Het |
| Il2ra |
T |
A |
2: 11,647,831 (GRCm39) |
M7K |
probably benign |
Het |
| Iqgap2 |
A |
T |
13: 95,836,846 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
T |
C |
11: 115,888,906 (GRCm39) |
V1083A |
probably benign |
Het |
| Kcnma1 |
G |
A |
14: 23,544,638 (GRCm39) |
A573V |
possibly damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,995,729 (GRCm39) |
T402A |
probably benign |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Krt4 |
T |
A |
15: 101,828,823 (GRCm39) |
Q347L |
probably damaging |
Het |
| Map3k21 |
T |
A |
8: 126,661,804 (GRCm39) |
I467N |
probably damaging |
Het |
| Mastl |
A |
T |
2: 23,030,585 (GRCm39) |
S195T |
probably damaging |
Het |
| Mis18bp1 |
G |
T |
12: 65,205,368 (GRCm39) |
T268K |
probably benign |
Het |
| Mmp17 |
G |
A |
5: 129,682,836 (GRCm39) |
G492S |
probably null |
Het |
| Myc |
T |
A |
15: 61,860,031 (GRCm39) |
S236T |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,117,848 (GRCm39) |
E524V |
probably damaging |
Het |
| Nopchap1 |
T |
C |
10: 83,201,680 (GRCm39) |
V151A |
probably benign |
Het |
| Npr3 |
T |
A |
15: 11,845,376 (GRCm39) |
|
probably null |
Het |
| Oog4 |
T |
C |
4: 143,165,346 (GRCm39) |
N267S |
possibly damaging |
Het |
| Or2a12 |
T |
A |
6: 42,904,469 (GRCm39) |
Y101* |
probably null |
Het |
| Or4l15 |
A |
T |
14: 50,198,563 (GRCm39) |
|
probably null |
Het |
| Or56a5 |
A |
G |
7: 104,793,086 (GRCm39) |
I138T |
possibly damaging |
Het |
| Pde4dip |
T |
C |
3: 97,664,587 (GRCm39) |
E425G |
probably benign |
Het |
| Piwil4 |
A |
C |
9: 14,638,729 (GRCm39) |
N312K |
probably benign |
Het |
| Pmepa1 |
A |
G |
2: 173,076,212 (GRCm39) |
M47T |
possibly damaging |
Het |
| Potefam1 |
A |
T |
2: 111,023,826 (GRCm39) |
S475T |
unknown |
Het |
| Prkcg |
G |
A |
7: 3,368,069 (GRCm39) |
G372D |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,096,734 (GRCm39) |
H746R |
probably benign |
Het |
| Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
| Rab3gap2 |
C |
G |
1: 184,983,265 (GRCm39) |
A468G |
probably damaging |
Het |
| Ralb |
A |
G |
1: 119,400,129 (GRCm39) |
L123P |
|
Het |
| Ralgapa2 |
G |
A |
2: 146,189,046 (GRCm39) |
T1288I |
probably benign |
Het |
| Samd4b |
C |
A |
7: 28,122,926 (GRCm39) |
C44F |
probably benign |
Het |
| Satb1 |
C |
A |
17: 52,090,008 (GRCm39) |
E280* |
probably null |
Het |
| Sec1 |
T |
C |
7: 45,328,034 (GRCm39) |
T338A |
probably damaging |
Het |
| Sec16a |
T |
C |
2: 26,331,734 (GRCm39) |
T94A |
probably benign |
Het |
| Serpina1f |
G |
A |
12: 103,656,086 (GRCm39) |
R381W |
probably damaging |
Het |
| Sfswap |
A |
T |
5: 129,620,305 (GRCm39) |
T525S |
probably benign |
Het |
| Skor1 |
T |
C |
9: 63,054,169 (GRCm39) |
|
probably null |
Het |
| Spc24 |
A |
G |
9: 21,668,664 (GRCm39) |
L111P |
probably damaging |
Het |
| St8sia2 |
T |
C |
7: 73,616,675 (GRCm39) |
D121G |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,689,422 (GRCm39) |
T195A |
probably benign |
Het |
| Tbc1d9 |
T |
A |
8: 83,997,890 (GRCm39) |
I1149N |
probably damaging |
Het |
| Tph2 |
A |
T |
10: 114,987,016 (GRCm39) |
L258Q |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,879,557 (GRCm39) |
M781L |
probably benign |
Het |
| Ubap2 |
G |
T |
4: 41,195,779 (GRCm39) |
P1005T |
probably benign |
Het |
| Upf2 |
A |
G |
2: 5,965,851 (GRCm39) |
E157G |
unknown |
Het |
| Urb2 |
C |
A |
8: 124,755,008 (GRCm39) |
D238E |
probably benign |
Het |
| Vipr1 |
T |
C |
9: 121,497,621 (GRCm39) |
S380P |
probably damaging |
Het |
| Zc3h18 |
T |
A |
8: 123,139,760 (GRCm39) |
S734T |
unknown |
Het |
| Zmym6 |
T |
A |
4: 126,998,106 (GRCm39) |
Y381N |
probably damaging |
Het |
| Zscan4e |
T |
C |
7: 11,041,251 (GRCm39) |
K207R |
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 |
|
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 |
|
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'- TGCAGGGGCTGTTTCCTATC -3'
(R):5'- ACATATTCTGTGTGCTGCAGC -3'
Sequencing Primer
(F):5'- AGGGGCTGTTTCCTATCCACAAC -3'
(R):5'- AGCAGGTGTGTCCCAAGCTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation