Incidental Mutation 'R7009:Cacna2d3'
ID |
568393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cacna2d3
|
Ensembl Gene |
ENSMUSG00000021991 |
Gene Name |
calcium channel, voltage-dependent, alpha2/delta subunit 3 |
Synonyms |
alpha 2 delta-3, alpha2delta3 |
MMRRC Submission |
045111-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7009 (G1)
|
Quality Score |
58.0073 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
28626900-29443821 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 28691322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152967
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022567]
[ENSMUST00000225668]
[ENSMUST00000225985]
|
AlphaFold |
Q9Z1L5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022567
|
SMART Domains |
Protein: ENSMUSP00000022567 Gene: ENSMUSG00000021991
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
Blast:WNT1
|
28 |
103 |
2e-33 |
BLAST |
Pfam:VWA_N
|
113 |
229 |
6.8e-40 |
PFAM |
VWA
|
254 |
439 |
4.13e-24 |
SMART |
Pfam:Cache_1
|
452 |
548 |
3e-32 |
PFAM |
low complexity region
|
1070 |
1088 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000225668
AA Change: M1K
|
Predicted Effect |
probably null
Transcript: ENSMUST00000225985
AA Change: M1K
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
99% (82/83) |
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 disruptions in this gene have a decreased startle reflex and occasional animals show increased aggression and hyperactivity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
G |
T |
13: 59,838,624 (GRCm39) |
D69E |
possibly damaging |
Het |
Abat |
A |
C |
16: 8,420,231 (GRCm39) |
M177L |
probably benign |
Het |
Acadvl |
A |
G |
11: 69,905,617 (GRCm39) |
|
probably null |
Het |
Adam5 |
T |
C |
8: 25,296,454 (GRCm39) |
N331S |
probably benign |
Het |
Ager |
A |
G |
17: 34,819,710 (GRCm39) |
E372G |
probably damaging |
Het |
Angpt1 |
T |
A |
15: 42,386,991 (GRCm39) |
Q121L |
possibly damaging |
Het |
Apoa4 |
A |
T |
9: 46,154,178 (GRCm39) |
I260F |
possibly damaging |
Het |
Arhgap32 |
A |
T |
9: 32,157,272 (GRCm39) |
I90F |
probably damaging |
Het |
Arhgap5 |
A |
T |
12: 52,566,422 (GRCm39) |
Q1131L |
probably benign |
Het |
Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
Ccdc18 |
G |
A |
5: 108,321,728 (GRCm39) |
|
probably null |
Het |
Ccdc42 |
T |
C |
11: 68,485,442 (GRCm39) |
F267S |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,173,085 (GRCm39) |
Y1700F |
probably damaging |
Het |
Cenpe |
A |
T |
3: 134,940,962 (GRCm39) |
S704C |
probably damaging |
Het |
Cenpe |
G |
A |
3: 134,940,963 (GRCm39) |
S704N |
probably benign |
Het |
Cfap299 |
A |
T |
5: 98,932,379 (GRCm39) |
D193V |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,710,881 (GRCm39) |
S2727T |
unknown |
Het |
Clu |
T |
A |
14: 66,209,281 (GRCm39) |
V113D |
probably damaging |
Het |
Cnbd2 |
A |
G |
2: 156,161,954 (GRCm39) |
I98V |
probably benign |
Het |
Copa |
G |
T |
1: 171,918,567 (GRCm39) |
R97L |
probably damaging |
Het |
Epb41l1 |
C |
A |
2: 156,376,603 (GRCm39) |
|
probably null |
Het |
Etnk1 |
T |
A |
6: 143,148,880 (GRCm39) |
|
probably null |
Het |
Fnip1 |
A |
T |
11: 54,393,761 (GRCm39) |
K732N |
probably damaging |
Het |
G6pd2 |
A |
G |
5: 61,966,234 (GRCm39) |
E3G |
probably benign |
Het |
Gal3st2 |
A |
G |
1: 93,801,481 (GRCm39) |
T95A |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,590,829 (GRCm39) |
S948P |
probably damaging |
Het |
Ggps1 |
A |
T |
13: 14,228,750 (GRCm39) |
Y8* |
probably null |
Het |
Gria2 |
T |
C |
3: 80,614,279 (GRCm39) |
E587G |
probably damaging |
Het |
Hpse |
T |
C |
5: 100,840,145 (GRCm39) |
E324G |
probably benign |
Het |
Il16 |
G |
A |
7: 83,295,596 (GRCm39) |
T493I |
probably benign |
Het |
Ints1 |
T |
C |
5: 139,754,217 (GRCm39) |
T652A |
possibly damaging |
Het |
Ism1 |
A |
G |
2: 139,599,199 (GRCm39) |
I391V |
probably damaging |
Het |
Katnb1 |
A |
G |
8: 95,825,012 (GRCm39) |
D598G |
probably damaging |
Het |
Kif5c |
A |
G |
2: 49,647,441 (GRCm39) |
S880G |
probably benign |
Het |
Klra8 |
T |
C |
6: 130,102,147 (GRCm39) |
N96S |
probably benign |
Het |
Krt79 |
T |
A |
15: 101,839,876 (GRCm39) |
D373V |
probably damaging |
Het |
Lamtor4 |
G |
A |
5: 138,257,374 (GRCm39) |
R92Q |
probably benign |
Het |
Lce1d |
C |
A |
3: 92,593,353 (GRCm39) |
C20F |
unknown |
Het |
Limk1 |
T |
C |
5: 134,701,553 (GRCm39) |
T117A |
probably benign |
Het |
Medag |
A |
T |
5: 149,350,708 (GRCm39) |
K61M |
probably benign |
Het |
Mkrn3 |
T |
C |
7: 62,069,366 (GRCm39) |
M142V |
probably benign |
Het |
Mob3c |
G |
A |
4: 115,688,779 (GRCm39) |
R104H |
probably benign |
Het |
Morc1 |
G |
T |
16: 48,447,433 (GRCm39) |
R903L |
possibly damaging |
Het |
Myh6 |
T |
C |
14: 55,189,749 (GRCm39) |
E1099G |
probably damaging |
Het |
Nphp3 |
T |
G |
9: 103,893,315 (GRCm39) |
C434G |
probably null |
Het |
Npr3 |
C |
T |
15: 11,905,334 (GRCm39) |
C131Y |
probably damaging |
Het |
Oacyl |
C |
A |
18: 65,855,609 (GRCm39) |
Y112* |
probably null |
Het |
Oprl1 |
A |
G |
2: 181,360,174 (GRCm39) |
T77A |
probably damaging |
Het |
Osgep |
A |
G |
14: 51,162,165 (GRCm39) |
V24A |
probably damaging |
Het |
Otx2 |
T |
A |
14: 48,896,254 (GRCm39) |
K260M |
probably damaging |
Het |
Pdcd11 |
T |
C |
19: 47,101,581 (GRCm39) |
L922P |
probably benign |
Het |
Pgap4 |
A |
T |
4: 49,586,325 (GRCm39) |
M281K |
probably benign |
Het |
Phldb1 |
A |
G |
9: 44,605,705 (GRCm39) |
V375A |
probably damaging |
Het |
Pip5k1b |
C |
T |
19: 24,337,299 (GRCm39) |
|
probably null |
Het |
Psmd3 |
G |
A |
11: 98,573,592 (GRCm39) |
D13N |
probably benign |
Het |
Ptprc |
G |
A |
1: 137,992,291 (GRCm39) |
H1140Y |
probably damaging |
Het |
Ranbp3l |
A |
T |
15: 9,063,064 (GRCm39) |
H291L |
probably damaging |
Het |
Rasa4 |
T |
A |
5: 136,130,217 (GRCm39) |
D324E |
probably damaging |
Het |
Rilpl1 |
T |
A |
5: 124,641,755 (GRCm39) |
|
silent |
Het |
Rin2 |
A |
C |
2: 145,725,395 (GRCm39) |
D794A |
probably damaging |
Het |
Ripk1 |
A |
G |
13: 34,214,045 (GRCm39) |
I522M |
probably damaging |
Het |
Rnf31 |
T |
C |
14: 55,830,008 (GRCm39) |
Y143H |
probably benign |
Het |
Rp1 |
T |
G |
1: 4,112,291 (GRCm39) |
I1187L |
unknown |
Het |
Rps6ka5 |
G |
A |
12: 100,585,796 (GRCm39) |
H166Y |
probably damaging |
Het |
Rrm1 |
T |
C |
7: 102,109,541 (GRCm39) |
V455A |
probably damaging |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Scn5a |
T |
G |
9: 119,314,996 (GRCm39) |
E1904A |
probably damaging |
Het |
Sec16a |
G |
T |
2: 26,326,014 (GRCm39) |
S240* |
probably null |
Het |
Slc22a8 |
C |
T |
19: 8,582,781 (GRCm39) |
T154I |
probably benign |
Het |
Slc25a16 |
T |
A |
10: 62,773,233 (GRCm39) |
V156E |
possibly damaging |
Het |
Slc28a3 |
A |
T |
13: 58,758,618 (GRCm39) |
S2T |
probably benign |
Het |
Srd5a3 |
G |
A |
5: 76,297,713 (GRCm39) |
V48I |
probably benign |
Het |
Srebf1 |
A |
C |
11: 60,091,352 (GRCm39) |
H1025Q |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,527,672 (GRCm39) |
K1310E |
probably benign |
Het |
Swt1 |
A |
G |
1: 151,246,381 (GRCm39) |
V848A |
possibly damaging |
Het |
Tanc2 |
A |
T |
11: 105,731,525 (GRCm39) |
T434S |
possibly damaging |
Het |
Tcf20 |
G |
A |
15: 82,738,883 (GRCm39) |
T856I |
probably benign |
Het |
Tcf7l2 |
T |
C |
19: 55,883,165 (GRCm39) |
|
probably null |
Het |
Trim45 |
A |
G |
3: 100,839,195 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
T |
A |
6: 115,524,933 (GRCm39) |
M44K |
possibly damaging |
Het |
Ttc21a |
T |
A |
9: 119,787,139 (GRCm39) |
C715* |
probably null |
Het |
Vmn2r102 |
G |
A |
17: 19,914,456 (GRCm39) |
V674I |
probably damaging |
Het |
Zfp87 |
A |
G |
13: 67,665,173 (GRCm39) |
S430P |
probably damaging |
Het |
|
Other mutations in Cacna2d3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01113:Cacna2d3
|
APN |
14 |
29,022,688 (GRCm39) |
splice site |
probably benign |
|
IGL01150:Cacna2d3
|
APN |
14 |
28,905,598 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01390:Cacna2d3
|
APN |
14 |
28,665,548 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01626:Cacna2d3
|
APN |
14 |
28,665,564 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02127:Cacna2d3
|
APN |
14 |
28,785,832 (GRCm39) |
unclassified |
probably benign |
|
IGL02237:Cacna2d3
|
APN |
14 |
29,068,954 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02274:Cacna2d3
|
APN |
14 |
28,678,827 (GRCm39) |
splice site |
probably null |
|
IGL02604:Cacna2d3
|
APN |
14 |
29,015,066 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02806:Cacna2d3
|
APN |
14 |
29,073,907 (GRCm39) |
splice site |
probably null |
|
IGL02838:Cacna2d3
|
APN |
14 |
29,022,785 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02894:Cacna2d3
|
APN |
14 |
28,786,276 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03061:Cacna2d3
|
APN |
14 |
28,780,388 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03117:Cacna2d3
|
APN |
14 |
29,189,909 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03265:Cacna2d3
|
APN |
14 |
28,674,243 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03266:Cacna2d3
|
APN |
14 |
29,022,705 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03396:Cacna2d3
|
APN |
14 |
29,442,834 (GRCm39) |
nonsense |
probably null |
|
R0094:Cacna2d3
|
UTSW |
14 |
28,892,460 (GRCm39) |
critical splice donor site |
probably null |
|
R0326:Cacna2d3
|
UTSW |
14 |
28,767,601 (GRCm39) |
missense |
probably damaging |
0.96 |
R0485:Cacna2d3
|
UTSW |
14 |
29,256,476 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0669:Cacna2d3
|
UTSW |
14 |
29,189,906 (GRCm39) |
missense |
probably benign |
0.40 |
R0730:Cacna2d3
|
UTSW |
14 |
28,704,322 (GRCm39) |
missense |
probably benign |
0.02 |
R0736:Cacna2d3
|
UTSW |
14 |
28,780,585 (GRCm39) |
missense |
probably benign |
0.02 |
R1073:Cacna2d3
|
UTSW |
14 |
28,767,580 (GRCm39) |
missense |
probably damaging |
0.99 |
R1116:Cacna2d3
|
UTSW |
14 |
28,786,278 (GRCm39) |
splice site |
probably benign |
|
R1312:Cacna2d3
|
UTSW |
14 |
28,767,625 (GRCm39) |
missense |
probably benign |
0.00 |
R1467:Cacna2d3
|
UTSW |
14 |
29,055,736 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1467:Cacna2d3
|
UTSW |
14 |
29,055,736 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1501:Cacna2d3
|
UTSW |
14 |
28,703,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R1525:Cacna2d3
|
UTSW |
14 |
28,694,199 (GRCm39) |
missense |
probably benign |
0.01 |
R1574:Cacna2d3
|
UTSW |
14 |
29,073,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R1574:Cacna2d3
|
UTSW |
14 |
29,073,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R1866:Cacna2d3
|
UTSW |
14 |
28,691,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R2403:Cacna2d3
|
UTSW |
14 |
28,627,259 (GRCm39) |
missense |
probably benign |
0.38 |
R2981:Cacna2d3
|
UTSW |
14 |
28,785,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R3715:Cacna2d3
|
UTSW |
14 |
29,068,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R3791:Cacna2d3
|
UTSW |
14 |
28,905,538 (GRCm39) |
missense |
probably benign |
0.03 |
R3847:Cacna2d3
|
UTSW |
14 |
29,069,077 (GRCm39) |
critical splice donor site |
probably null |
|
R3849:Cacna2d3
|
UTSW |
14 |
29,069,077 (GRCm39) |
critical splice donor site |
probably null |
|
R3850:Cacna2d3
|
UTSW |
14 |
29,069,077 (GRCm39) |
critical splice donor site |
probably null |
|
R4558:Cacna2d3
|
UTSW |
14 |
28,825,670 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4594:Cacna2d3
|
UTSW |
14 |
28,704,303 (GRCm39) |
missense |
probably benign |
0.13 |
R4681:Cacna2d3
|
UTSW |
14 |
29,015,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R4868:Cacna2d3
|
UTSW |
14 |
28,678,743 (GRCm39) |
splice site |
probably null |
|
R4965:Cacna2d3
|
UTSW |
14 |
28,704,289 (GRCm39) |
missense |
probably benign |
0.07 |
R5133:Cacna2d3
|
UTSW |
14 |
29,015,135 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5311:Cacna2d3
|
UTSW |
14 |
29,068,987 (GRCm39) |
missense |
probably damaging |
0.99 |
R5432:Cacna2d3
|
UTSW |
14 |
28,665,512 (GRCm39) |
critical splice donor site |
probably null |
|
R5873:Cacna2d3
|
UTSW |
14 |
29,442,891 (GRCm39) |
missense |
probably benign |
0.31 |
R6103:Cacna2d3
|
UTSW |
14 |
29,118,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R6197:Cacna2d3
|
UTSW |
14 |
28,630,278 (GRCm39) |
missense |
probably benign |
0.38 |
R6396:Cacna2d3
|
UTSW |
14 |
29,118,522 (GRCm39) |
missense |
probably benign |
0.03 |
R6626:Cacna2d3
|
UTSW |
14 |
28,786,143 (GRCm39) |
unclassified |
probably benign |
|
R6632:Cacna2d3
|
UTSW |
14 |
28,627,222 (GRCm39) |
makesense |
probably null |
|
R6706:Cacna2d3
|
UTSW |
14 |
28,846,642 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6765:Cacna2d3
|
UTSW |
14 |
28,777,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R6945:Cacna2d3
|
UTSW |
14 |
28,691,275 (GRCm39) |
intron |
probably benign |
|
R7069:Cacna2d3
|
UTSW |
14 |
28,691,260 (GRCm39) |
intron |
probably benign |
|
R7146:Cacna2d3
|
UTSW |
14 |
29,443,654 (GRCm39) |
missense |
unknown |
|
R7427:Cacna2d3
|
UTSW |
14 |
28,786,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R7428:Cacna2d3
|
UTSW |
14 |
28,786,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R7445:Cacna2d3
|
UTSW |
14 |
28,780,575 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7505:Cacna2d3
|
UTSW |
14 |
28,767,501 (GRCm39) |
splice site |
probably null |
|
R7560:Cacna2d3
|
UTSW |
14 |
28,780,378 (GRCm39) |
missense |
probably benign |
0.18 |
R7703:Cacna2d3
|
UTSW |
14 |
28,765,503 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8042:Cacna2d3
|
UTSW |
14 |
28,826,995 (GRCm39) |
splice site |
probably benign |
|
R8096:Cacna2d3
|
UTSW |
14 |
28,825,657 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8280:Cacna2d3
|
UTSW |
14 |
28,704,328 (GRCm39) |
missense |
probably benign |
0.25 |
R8814:Cacna2d3
|
UTSW |
14 |
28,819,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R8838:Cacna2d3
|
UTSW |
14 |
28,691,220 (GRCm39) |
missense |
probably benign |
0.03 |
R8864:Cacna2d3
|
UTSW |
14 |
29,055,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R9103:Cacna2d3
|
UTSW |
14 |
29,068,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R9341:Cacna2d3
|
UTSW |
14 |
28,704,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9343:Cacna2d3
|
UTSW |
14 |
28,704,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9567:Cacna2d3
|
UTSW |
14 |
28,627,268 (GRCm39) |
missense |
probably benign |
0.38 |
Z1088:Cacna2d3
|
UTSW |
14 |
28,786,265 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Cacna2d3
|
UTSW |
14 |
29,069,120 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTAAACTGAGAGCACCATCC -3'
(R):5'- ACACGCTCTTTGTACCCACATG -3'
Sequencing Primer
(F):5'- GTTAACAACTTGTTCATGACAGCTCC -3'
(R):5'- GTACCCACATGTGTTTTAGTTTCTG -3'
|
Posted On |
2019-07-16 |