Incidental Mutation 'R1574:Cacna2d3'
ID |
202753 |
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 |
045014-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1574 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
28626900-29443821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29073779 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 222
(R222S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022567
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022567]
[ENSMUST00000225733]
[ENSMUST00000225863]
|
AlphaFold |
Q9Z1L5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022567
AA Change: R222S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022567 Gene: ENSMUSG00000021991 AA Change: R222S
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 benign
Transcript: ENSMUST00000225733
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225863
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225953
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 93.0%
|
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 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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
T |
A |
5: 81,935,296 (GRCm39) |
N1276K |
probably damaging |
Het |
Als2cl |
A |
G |
9: 110,713,128 (GRCm39) |
E6G |
probably damaging |
Het |
Ankrd12 |
A |
T |
17: 66,293,269 (GRCm39) |
D721E |
probably benign |
Het |
Anpep |
A |
G |
7: 79,488,155 (GRCm39) |
|
probably null |
Het |
Apeh |
A |
T |
9: 107,969,925 (GRCm39) |
|
probably null |
Het |
Apob |
A |
T |
12: 8,040,839 (GRCm39) |
I655L |
possibly damaging |
Het |
Atp2b1 |
T |
A |
10: 98,832,810 (GRCm39) |
L437Q |
probably damaging |
Het |
Cdc25b |
T |
A |
2: 131,033,057 (GRCm39) |
|
probably benign |
Het |
Cdon |
A |
G |
9: 35,364,233 (GRCm39) |
|
probably benign |
Het |
Cenpf |
C |
T |
1: 189,384,910 (GRCm39) |
D2457N |
probably damaging |
Het |
Cenpo |
A |
T |
12: 4,265,433 (GRCm39) |
|
probably null |
Het |
Ces2b |
G |
T |
8: 105,562,521 (GRCm39) |
A284S |
probably benign |
Het |
Clock |
T |
C |
5: 76,390,679 (GRCm39) |
D311G |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,559,257 (GRCm39) |
|
probably null |
Het |
Dbil5 |
A |
G |
11: 76,109,308 (GRCm39) |
M71V |
probably benign |
Het |
Ddhd1 |
A |
C |
14: 45,833,004 (GRCm39) |
L864R |
probably damaging |
Het |
Ddx19a |
T |
C |
8: 111,719,743 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
A |
G |
12: 118,024,052 (GRCm39) |
C1900R |
probably damaging |
Het |
Dnah2 |
A |
G |
11: 69,405,514 (GRCm39) |
V666A |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,252,569 (GRCm39) |
M754K |
probably benign |
Het |
Dnajc15 |
A |
T |
14: 78,063,854 (GRCm39) |
S145T |
probably benign |
Het |
Drap1 |
A |
G |
19: 5,474,285 (GRCm39) |
F25S |
probably damaging |
Het |
Drgx |
A |
G |
14: 32,327,281 (GRCm39) |
|
probably benign |
Het |
Fam83e |
G |
A |
7: 45,376,135 (GRCm39) |
E283K |
probably damaging |
Het |
Fbxo48 |
G |
T |
11: 16,903,368 (GRCm39) |
|
probably benign |
Het |
Fndc3a |
A |
T |
14: 72,793,997 (GRCm39) |
I892N |
probably damaging |
Het |
Gcn1 |
A |
G |
5: 115,753,611 (GRCm39) |
T2321A |
probably benign |
Het |
Gm1110 |
G |
T |
9: 26,792,422 (GRCm39) |
|
probably benign |
Het |
Gm5499 |
T |
C |
17: 87,386,423 (GRCm39) |
|
noncoding transcript |
Het |
Gmnc |
G |
T |
16: 26,782,729 (GRCm39) |
|
probably benign |
Het |
Greb1l |
A |
G |
18: 10,554,997 (GRCm39) |
D1681G |
possibly damaging |
Het |
Hc |
G |
A |
2: 34,890,777 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
A |
C |
2: 31,294,899 (GRCm39) |
T2563P |
probably damaging |
Het |
Iqcd |
A |
T |
5: 120,738,300 (GRCm39) |
K39N |
probably damaging |
Het |
Irag2 |
T |
G |
6: 145,104,356 (GRCm39) |
|
probably benign |
Het |
Kank2 |
A |
G |
9: 21,685,871 (GRCm39) |
S668P |
probably damaging |
Het |
Kcng1 |
T |
A |
2: 168,110,961 (GRCm39) |
N68Y |
probably damaging |
Het |
Kmt5b |
T |
A |
19: 3,836,633 (GRCm39) |
|
probably null |
Het |
Lama2 |
T |
A |
10: 27,200,750 (GRCm39) |
I533F |
possibly damaging |
Het |
Lcmt1 |
T |
A |
7: 123,002,131 (GRCm39) |
I132N |
probably damaging |
Het |
Mad2l2 |
G |
T |
4: 148,227,429 (GRCm39) |
|
probably benign |
Het |
Mcph1 |
T |
C |
8: 18,851,428 (GRCm39) |
I807T |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,722,315 (GRCm39) |
I2366V |
probably benign |
Het |
Moxd1 |
T |
C |
10: 24,176,217 (GRCm39) |
W558R |
probably damaging |
Het |
Myh13 |
T |
C |
11: 67,253,407 (GRCm39) |
|
probably benign |
Het |
Myrf |
T |
C |
19: 10,202,851 (GRCm39) |
D141G |
probably damaging |
Het |
Ncoa7 |
T |
C |
10: 30,570,097 (GRCm39) |
I249M |
probably damaging |
Het |
Obox5 |
T |
C |
7: 15,492,558 (GRCm39) |
V171A |
probably damaging |
Het |
Or13e8 |
A |
T |
4: 43,697,134 (GRCm39) |
V13D |
possibly damaging |
Het |
Or2c1 |
T |
C |
16: 3,657,521 (GRCm39) |
I228T |
probably damaging |
Het |
Or5ak20 |
A |
T |
2: 85,184,243 (GRCm39) |
V9E |
probably damaging |
Het |
Or6c219 |
A |
G |
10: 129,781,379 (GRCm39) |
L69P |
probably damaging |
Het |
Or7a36 |
C |
A |
10: 78,819,820 (GRCm39) |
N32K |
probably damaging |
Het |
Parp4 |
A |
G |
14: 56,839,752 (GRCm39) |
T487A |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,729,845 (GRCm39) |
|
probably benign |
Het |
Pcnx2 |
G |
A |
8: 126,500,669 (GRCm39) |
R1474C |
probably damaging |
Het |
Qtrt2 |
A |
G |
16: 43,692,195 (GRCm39) |
|
probably benign |
Het |
Sart1 |
G |
A |
19: 5,430,287 (GRCm39) |
P788L |
probably damaging |
Het |
Sdk1 |
A |
G |
5: 141,984,634 (GRCm39) |
T740A |
probably benign |
Het |
Serpinb1c |
T |
C |
13: 33,072,979 (GRCm39) |
D61G |
possibly damaging |
Het |
Slc24a5 |
G |
A |
2: 124,922,782 (GRCm39) |
G152S |
probably damaging |
Het |
Slc6a4 |
A |
T |
11: 76,910,022 (GRCm39) |
I426F |
possibly damaging |
Het |
Stk33 |
C |
T |
7: 108,879,027 (GRCm39) |
V441I |
probably benign |
Het |
Sult1c2 |
A |
G |
17: 54,143,927 (GRCm39) |
|
probably null |
Het |
Tdpoz4 |
T |
A |
3: 93,703,835 (GRCm39) |
V44E |
probably benign |
Het |
Tmprss13 |
C |
A |
9: 45,254,529 (GRCm39) |
T432K |
probably damaging |
Het |
Traf7 |
A |
G |
17: 24,729,527 (GRCm39) |
L428P |
probably damaging |
Het |
Tubb1 |
T |
C |
2: 174,299,215 (GRCm39) |
I299T |
probably benign |
Het |
Vmn1r158 |
A |
T |
7: 22,489,772 (GRCm39) |
W146R |
probably damaging |
Het |
Vmn1r42 |
A |
G |
6: 89,822,059 (GRCm39) |
I170T |
possibly damaging |
Het |
Vmn2r116 |
A |
T |
17: 23,606,063 (GRCm39) |
H325L |
probably damaging |
Het |
Zfp516 |
T |
A |
18: 83,011,300 (GRCm39) |
L1111H |
possibly damaging |
Het |
Zfp61 |
C |
G |
7: 23,990,635 (GRCm39) |
K505N |
probably damaging |
Het |
Zfp653 |
C |
A |
9: 21,969,274 (GRCm39) |
E331* |
probably null |
Het |
Zfp949 |
A |
T |
9: 88,451,830 (GRCm39) |
K467* |
probably null |
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 |
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 |
|
R7009:Cacna2d3
|
UTSW |
14 |
28,691,322 (GRCm39) |
start codon destroyed |
probably null |
|
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'- AGCCAGACACAAGTTTCTGC -3'
(R):5'- TGAAGTCTGGCACCTGTGAC -3'
Sequencing Primer
(F):5'- CAGACACAAGTTTCTGCTATCAATTC -3'
(R):5'- ACCTGTGACCTGGCTCC -3'
|
Posted On |
2014-06-23 |