Incidental Mutation 'R9103:Cacna2d3'
| ID |
691847 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9103 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
28626900-29443821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29068971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 252
(T252I)
|
| 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: T252I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: T252I
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (73/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,454,558 (GRCm39) |
C458* |
probably null |
Het |
| Adgra2 |
G |
A |
8: 27,603,436 (GRCm39) |
G407D |
probably damaging |
Het |
| Aox4 |
G |
A |
1: 58,296,441 (GRCm39) |
G1046E |
probably damaging |
Het |
| Arhgap27 |
A |
G |
11: 103,251,540 (GRCm39) |
Y63H |
probably damaging |
Het |
| Ascl3 |
A |
T |
7: 109,327,127 (GRCm39) |
M64K |
probably benign |
Het |
| Capn7 |
A |
G |
14: 31,091,732 (GRCm39) |
T710A |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,295,836 (GRCm39) |
C393R |
probably benign |
Het |
| Chd5 |
A |
C |
4: 152,461,444 (GRCm39) |
E1215A |
possibly damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,072,094 (GRCm39) |
N449S |
probably benign |
Het |
| Cpz |
G |
A |
5: 35,675,054 (GRCm39) |
S65L |
probably benign |
Het |
| Cyp2c68 |
T |
A |
19: 39,727,625 (GRCm39) |
N118I |
possibly damaging |
Het |
| Ddx25 |
A |
T |
9: 35,458,085 (GRCm39) |
F345I |
probably benign |
Het |
| Dennd2d |
T |
C |
3: 106,397,684 (GRCm39) |
Y161H |
|
Het |
| Egfl8 |
C |
T |
17: 34,833,210 (GRCm39) |
D179N |
probably benign |
Het |
| Eif2a |
A |
G |
3: 58,452,461 (GRCm39) |
N174S |
|
Het |
| Farp1 |
C |
T |
14: 121,509,104 (GRCm39) |
H643Y |
possibly damaging |
Het |
| Fat1 |
G |
T |
8: 45,404,850 (GRCm39) |
V534L |
probably benign |
Het |
| Fbxo48 |
A |
G |
11: 16,903,556 (GRCm39) |
T61A |
probably benign |
Het |
| Fnbp4 |
A |
G |
2: 90,608,187 (GRCm39) |
T970A |
probably benign |
Het |
| Foxd1 |
T |
A |
13: 98,491,763 (GRCm39) |
D212E |
possibly damaging |
Het |
| Fstl4 |
C |
A |
11: 52,664,696 (GRCm39) |
H9N |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,673,232 (GRCm39) |
D622G |
possibly damaging |
Het |
| Gm4787 |
T |
A |
12: 81,425,489 (GRCm39) |
H223L |
probably benign |
Het |
| Grin3a |
A |
G |
4: 49,771,179 (GRCm39) |
V531A |
probably damaging |
Het |
| Gzmb |
T |
C |
14: 56,498,622 (GRCm39) |
D42G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,784,803 (GRCm39) |
Y1416N |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hsd17b6 |
A |
G |
10: 127,833,876 (GRCm39) |
W2R |
probably damaging |
Het |
| Hspa4l |
T |
C |
3: 40,715,349 (GRCm39) |
|
probably null |
Het |
| Igtp |
A |
G |
11: 58,097,726 (GRCm39) |
E299G |
|
Het |
| Klhl28 |
T |
C |
12: 64,990,300 (GRCm39) |
D547G |
possibly damaging |
Het |
| Leng8 |
G |
C |
7: 4,146,897 (GRCm39) |
R473P |
probably damaging |
Het |
| Lin37 |
T |
A |
7: 30,257,055 (GRCm39) |
N53Y |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,430,979 (GRCm39) |
Q357* |
probably null |
Het |
| Lrrfip2 |
A |
T |
9: 111,034,840 (GRCm39) |
K176N |
probably damaging |
Het |
| Ltbp4 |
A |
G |
7: 27,028,186 (GRCm39) |
S390P |
unknown |
Het |
| Map3k2 |
G |
A |
18: 32,353,625 (GRCm39) |
R465H |
possibly damaging |
Het |
| Mthfd1 |
T |
A |
12: 76,350,517 (GRCm39) |
V665E |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,989,451 (GRCm39) |
I1524F |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,466,153 (GRCm39) |
S339P |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,450,332 (GRCm39) |
K506R |
probably damaging |
Het |
| Nudt21 |
A |
G |
8: 94,746,321 (GRCm39) |
I225T |
probably benign |
Het |
| Or4c31 |
A |
G |
2: 88,291,942 (GRCm39) |
K105R |
probably benign |
Het |
| Or56b1b |
A |
T |
7: 108,164,780 (GRCm39) |
L74Q |
probably benign |
Het |
| Or5g9 |
T |
A |
2: 85,552,527 (GRCm39) |
Y259* |
probably null |
Het |
| Or8b3 |
A |
G |
9: 38,314,518 (GRCm39) |
Y116C |
probably damaging |
Het |
| Or8c18 |
A |
T |
9: 38,203,969 (GRCm39) |
I243F |
probably damaging |
Het |
| Pax2 |
C |
T |
19: 44,806,968 (GRCm39) |
T299I |
probably benign |
Het |
| Pde4dip |
C |
T |
3: 97,749,044 (GRCm39) |
S99N |
probably damaging |
Het |
| Pdlim5 |
T |
A |
3: 142,010,174 (GRCm39) |
H147L |
possibly damaging |
Het |
| Pfkfb3 |
T |
A |
2: 11,487,381 (GRCm39) |
Y343F |
probably damaging |
Het |
| Phf10 |
A |
G |
17: 15,174,382 (GRCm39) |
I232T |
probably damaging |
Het |
| Plcb3 |
C |
T |
19: 6,936,288 (GRCm39) |
G745D |
probably benign |
Het |
| Pramel11 |
G |
A |
4: 143,624,381 (GRCm39) |
L39F |
probably damaging |
Het |
| Recql |
C |
A |
6: 142,322,515 (GRCm39) |
C129F |
possibly damaging |
Het |
| Rrp1 |
C |
T |
10: 78,240,876 (GRCm39) |
D288N |
unknown |
Het |
| Samd4 |
T |
C |
14: 47,254,066 (GRCm39) |
Y177H |
probably benign |
Het |
| Sim1 |
T |
A |
10: 50,785,525 (GRCm39) |
M198K |
possibly damaging |
Het |
| Six4 |
T |
C |
12: 73,155,964 (GRCm39) |
I334M |
probably damaging |
Het |
| Slc27a6 |
T |
C |
18: 58,705,268 (GRCm39) |
S217P |
probably damaging |
Het |
| Slc2a4 |
T |
A |
11: 69,836,218 (GRCm39) |
K264N |
probably benign |
Het |
| Slc8b1 |
A |
T |
5: 120,670,939 (GRCm39) |
I476F |
probably benign |
Het |
| Smcp |
T |
C |
3: 92,491,838 (GRCm39) |
D3G |
unknown |
Het |
| Tagap |
A |
T |
17: 8,152,335 (GRCm39) |
M507L |
probably benign |
Het |
| Thap11 |
A |
G |
8: 106,582,780 (GRCm39) |
E263G |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Top3a |
T |
G |
11: 60,654,253 (GRCm39) |
|
probably null |
Het |
| Ube2q2l |
T |
A |
6: 136,378,011 (GRCm39) |
D273V |
probably benign |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,073 (GRCm39) |
V264A |
unknown |
Het |
| Vti1a |
A |
C |
19: 55,316,865 (GRCm39) |
M81L |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,674,245 (GRCm39) |
|
probably null |
Het |
| Zfp595 |
T |
C |
13: 67,464,676 (GRCm39) |
E532G |
probably damaging |
Het |
| Zranb1 |
T |
A |
7: 132,584,167 (GRCm39) |
V539D |
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 |
|
|
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 |
|
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'- TGATGCAAATGACCCAAAGTAC -3'
(R):5'- GCAGAGCAGCCTTGAAGTAC -3'
Sequencing Primer
(F):5'- TGACCCAAAGTACAAAGAAAGC -3'
(R):5'- GAAGTCTCAAGGTTTCTTATAAGCCC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation