Incidental Mutation 'R9514:Cacna2d4'
| ID |
718372 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9514 (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 119213611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 10
(L10S)
|
| 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: L10S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: L10S
| 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: L10S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: L10S
| 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: 99.9%
- 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
C |
11: 58,312,533 (GRCm39) |
S4P |
probably benign |
Het |
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Acsl6 |
A |
G |
11: 54,225,880 (GRCm39) |
N307D |
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,721,433 (GRCm39) |
V154A |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,112,414 (GRCm39) |
D1201G |
probably damaging |
Het |
| Cd33 |
A |
T |
7: 43,182,150 (GRCm39) |
H98Q |
probably benign |
Het |
| Cebpz |
A |
T |
17: 79,239,684 (GRCm39) |
M579K |
probably benign |
Het |
| Cenpk |
T |
G |
13: 104,370,682 (GRCm39) |
C103G |
probably benign |
Het |
| Cep97 |
T |
A |
16: 55,726,093 (GRCm39) |
Q670L |
probably benign |
Het |
| Cfap65 |
C |
T |
1: 74,945,468 (GRCm39) |
|
probably null |
Het |
| Cir1 |
A |
G |
2: 73,142,781 (GRCm39) |
S18P |
probably damaging |
Het |
| Coprs |
T |
C |
8: 13,935,081 (GRCm39) |
Y158C |
probably damaging |
Het |
| Creld1 |
T |
C |
6: 113,469,765 (GRCm39) |
F389S |
probably damaging |
Het |
| Dimt1 |
T |
C |
13: 107,093,636 (GRCm39) |
I276T |
possibly damaging |
Het |
| Dok1 |
T |
C |
6: 83,009,972 (GRCm39) |
K46E |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,371,781 (GRCm39) |
C911S |
probably benign |
Het |
| Egr3 |
A |
G |
14: 70,314,978 (GRCm39) |
I29V |
probably benign |
Het |
| Fam186a |
A |
G |
15: 99,844,766 (GRCm39) |
S493P |
unknown |
Het |
| Fam83a |
G |
A |
15: 57,849,765 (GRCm39) |
G103D |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,175,808 (GRCm39) |
Q1635L |
probably damaging |
Het |
| Figla |
A |
C |
6: 85,997,689 (GRCm39) |
H139P |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,262,115 (GRCm39) |
K551E |
probably damaging |
Het |
| Galr2 |
A |
G |
11: 116,174,452 (GRCm39) |
T361A |
probably benign |
Het |
| Gart |
A |
T |
16: 91,427,596 (GRCm39) |
S467R |
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,229,742 (GRCm39) |
K45R |
probably benign |
Het |
| Ghsr |
G |
C |
3: 27,426,630 (GRCm39) |
V229L |
possibly damaging |
Het |
| H2ac21 |
A |
G |
3: 96,127,401 (GRCm39) |
E57G |
probably damaging |
Het |
| Hectd2 |
A |
T |
19: 36,582,689 (GRCm39) |
H473L |
possibly damaging |
Het |
| Hic2 |
T |
C |
16: 17,076,293 (GRCm39) |
V374A |
possibly damaging |
Het |
| Hivep2 |
T |
A |
10: 14,005,523 (GRCm39) |
I707N |
probably benign |
Het |
| Il17rc |
T |
C |
6: 113,449,741 (GRCm39) |
S116P |
probably damaging |
Het |
| Krt34 |
A |
T |
11: 99,929,226 (GRCm39) |
I328N |
probably damaging |
Het |
| Krt79 |
G |
A |
15: 101,840,288 (GRCm39) |
R303C |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,100,015 (GRCm39) |
E830G |
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,358,006 (GRCm39) |
T149I |
probably damaging |
Het |
| Mau2 |
T |
C |
8: 70,480,153 (GRCm39) |
Y318C |
probably damaging |
Het |
| Mier2 |
T |
C |
10: 79,377,496 (GRCm39) |
S486G |
probably benign |
Het |
| Mllt10 |
A |
G |
2: 18,164,322 (GRCm39) |
D284G |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,937,366 (GRCm39) |
S748R |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,248,133 (GRCm39) |
S1724P |
probably benign |
Het |
| Nipal4 |
T |
A |
11: 46,052,922 (GRCm39) |
|
probably null |
Het |
| Nlrc4 |
G |
C |
17: 74,753,736 (GRCm39) |
L216V |
probably benign |
Het |
| Ogfr |
A |
G |
2: 180,235,417 (GRCm39) |
M164V |
possibly damaging |
Het |
| Or1o4 |
G |
T |
17: 37,591,386 (GRCm39) |
|
probably benign |
Het |
| Or4b12 |
G |
A |
2: 90,096,709 (GRCm39) |
Q22* |
probably null |
Het |
| Pcdha12 |
G |
T |
18: 37,155,526 (GRCm39) |
W748C |
probably damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,395,849 (GRCm39) |
V2083A |
probably damaging |
Het |
| Plin3 |
C |
A |
17: 56,587,824 (GRCm39) |
G297V |
probably benign |
Het |
| Prex1 |
C |
T |
2: 166,419,896 (GRCm39) |
R1260Q |
possibly damaging |
Het |
| Prpf38b |
A |
G |
3: 108,818,619 (GRCm39) |
V47A |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,675,071 (GRCm39) |
T851A |
probably benign |
Het |
| Ptk7 |
T |
A |
17: 46,887,744 (GRCm39) |
I563F |
possibly damaging |
Het |
| Ptprm |
A |
G |
17: 67,116,466 (GRCm39) |
Y938H |
probably damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,507,203 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,443,684 (GRCm39) |
V89A |
probably benign |
Het |
| Sh2b1 |
CTC |
CTCCGCCACGGGGACCAGTTC |
7: 126,066,770 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
AGCTCAGCCACGGGGACC |
AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC |
7: 126,066,750 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
ACCAGCTC |
ACCAGCTCAGCCACGGGGGCCAGCTC |
7: 126,066,765 (GRCm39) |
|
probably benign |
Het |
| Slain1 |
T |
A |
14: 103,932,748 (GRCm39) |
V444E |
probably damaging |
Het |
| Slc10a5 |
T |
A |
3: 10,400,532 (GRCm39) |
I43F |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,659,452 (GRCm39) |
F914S |
possibly damaging |
Het |
| Smarca5 |
A |
C |
8: 81,428,840 (GRCm39) |
L1003V |
probably damaging |
Het |
| Spata18 |
A |
T |
5: 73,829,840 (GRCm39) |
I332F |
|
Het |
| Spata31d1e |
A |
G |
13: 59,890,806 (GRCm39) |
V338A |
probably damaging |
Het |
| Stard9 |
C |
G |
2: 120,534,564 (GRCm39) |
P3607R |
probably damaging |
Het |
| Tbx19 |
A |
G |
1: 164,966,546 (GRCm39) |
S443P |
unknown |
Het |
| Tktl2 |
C |
G |
8: 66,965,840 (GRCm39) |
A466G |
probably damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tmem129 |
A |
G |
5: 33,815,122 (GRCm39) |
V17A |
probably benign |
Het |
| Tom1l2 |
T |
C |
11: 60,153,486 (GRCm39) |
T164A |
probably damaging |
Het |
| Tor1aip1 |
T |
A |
1: 155,906,177 (GRCm39) |
D205V |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,017,648 (GRCm39) |
S751T |
probably benign |
Het |
| Trim11 |
G |
T |
11: 58,878,477 (GRCm39) |
A251S |
unknown |
Het |
| Trim33 |
T |
C |
3: 103,239,074 (GRCm39) |
V684A |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,877,378 (GRCm39) |
R1637C |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,960,040 (GRCm39) |
N1225S |
probably benign |
Het |
| Usp21 |
T |
C |
1: 171,112,503 (GRCm39) |
Y300C |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,913,560 (GRCm39) |
T924A |
probably damaging |
Het |
| Vmn1r198 |
A |
T |
13: 22,539,015 (GRCm39) |
H167L |
possibly damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,689,672 (GRCm39) |
T183A |
probably benign |
Het |
| Zc3h8 |
T |
C |
2: 128,773,223 (GRCm39) |
Y213C |
probably damaging |
Het |
| Zcchc17 |
A |
T |
4: 130,232,337 (GRCm39) |
D55E |
probably benign |
Het |
| Zfp408 |
A |
T |
2: 91,478,368 (GRCm39) |
W26R |
probably damaging |
Het |
| Zfp937 |
G |
T |
2: 150,080,890 (GRCm39) |
A307S |
possibly 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 |
|
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 |
|
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 |
|
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'- CCTCCTCTGACAACAAGAAGGG -3'
(R):5'- CTCACGTTTCCAGAGGAACTG -3'
Sequencing Primer
(F):5'- CTCCTCTGACAACAAGAAGGGATTAG -3'
(R):5'- CAGAGGAACTGTGGTCTGGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation