Incidental Mutation 'R8280:Cacna2d3'
| ID |
638166 |
| 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 |
067703-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8280 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
28626900-29443821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28704328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 818
(V818I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022567]
|
| AlphaFold |
Q9Z1L5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022567
AA Change: V818I
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: V818I
| 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 |
|
| Meta Mutation Damage Score |
0.0632 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (47/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
G |
11: 72,086,667 (GRCm39) |
V248A |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,440,274 (GRCm39) |
I373T |
probably benign |
Het |
| Anxa1 |
A |
T |
19: 20,352,650 (GRCm39) |
M308K |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,060,851 (GRCm39) |
M3111T |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,344,839 (GRCm39) |
D1095G |
probably damaging |
Het |
| Ces1c |
T |
A |
8: 93,825,809 (GRCm39) |
H550L |
possibly damaging |
Het |
| Cluap1 |
A |
G |
16: 3,729,017 (GRCm39) |
|
probably benign |
Het |
| Cped1 |
G |
T |
6: 21,986,820 (GRCm39) |
R4L |
unknown |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,532 (GRCm39) |
I229T |
probably benign |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,713 (GRCm39) |
C169R |
probably damaging |
Het |
| Dip2a |
C |
T |
10: 76,100,610 (GRCm39) |
V1522M |
possibly damaging |
Het |
| Diras2 |
A |
G |
13: 52,661,863 (GRCm39) |
M148T |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,408,538 (GRCm39) |
A3508S |
probably benign |
Het |
| Fam43b |
T |
C |
4: 138,123,281 (GRCm39) |
E13G |
probably damaging |
Het |
| Farsa |
T |
G |
8: 85,587,808 (GRCm39) |
I113S |
probably damaging |
Het |
| Fcrl2 |
G |
T |
3: 87,166,364 (GRCm39) |
S137* |
probably null |
Het |
| Fer1l4 |
T |
C |
2: 155,891,620 (GRCm39) |
D114G |
probably damaging |
Het |
| Gm4181 |
A |
T |
14: 51,868,015 (GRCm39) |
*185R |
probably null |
Het |
| Gm5901 |
G |
A |
7: 105,027,105 (GRCm39) |
|
probably null |
Het |
| Heatr4 |
C |
A |
12: 84,016,670 (GRCm39) |
E532D |
probably benign |
Het |
| Il10 |
C |
T |
1: 130,947,749 (GRCm39) |
P34L |
possibly damaging |
Het |
| Irag1 |
T |
C |
7: 110,522,828 (GRCm39) |
E205G |
possibly damaging |
Het |
| Lilra6 |
A |
G |
7: 3,916,046 (GRCm39) |
L271P |
probably benign |
Het |
| Mlh1 |
A |
T |
9: 111,078,286 (GRCm39) |
|
probably null |
Het |
| Naaa |
T |
C |
5: 92,411,308 (GRCm39) |
Y293C |
probably damaging |
Het |
| Ndufaf7 |
G |
A |
17: 79,251,275 (GRCm39) |
G227R |
possibly damaging |
Het |
| Nmral1 |
A |
G |
16: 4,531,659 (GRCm39) |
S199P |
probably damaging |
Het |
| Or1o11 |
T |
C |
17: 37,756,744 (GRCm39) |
F100L |
probably benign |
Het |
| Or4c122 |
A |
T |
2: 89,079,234 (GRCm39) |
I268K |
probably damaging |
Het |
| Or4k2 |
A |
C |
14: 50,423,723 (GRCm39) |
L318* |
probably null |
Het |
| Or4x6 |
C |
A |
2: 89,949,742 (GRCm39) |
V67L |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,729 (GRCm39) |
I205V |
noncoding transcript |
Het |
| Or8b52 |
T |
A |
9: 38,576,783 (GRCm39) |
Y119F |
probably damaging |
Het |
| Or8g21 |
C |
T |
9: 38,906,075 (GRCm39) |
V219I |
probably benign |
Het |
| Paxbp1 |
G |
T |
16: 90,831,123 (GRCm39) |
H418N |
probably benign |
Het |
| Prtg |
A |
G |
9: 72,813,433 (GRCm39) |
Y931C |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,315,372 (GRCm39) |
S239P |
probably benign |
Het |
| Rragd |
A |
G |
4: 32,995,112 (GRCm39) |
R76G |
probably benign |
Het |
| Samd8 |
G |
A |
14: 21,830,219 (GRCm39) |
W278* |
probably null |
Het |
| Slc22a8 |
T |
A |
19: 8,586,627 (GRCm39) |
Y379* |
probably null |
Het |
| Taar8c |
T |
A |
10: 23,976,835 (GRCm39) |
I326F |
probably benign |
Het |
| Tmem245 |
A |
T |
4: 56,890,884 (GRCm39) |
S715T |
possibly damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,055,359 (GRCm39) |
I1M |
unknown |
Het |
| Trio |
A |
G |
15: 27,902,996 (GRCm39) |
I214T |
unknown |
Het |
| Uqcrfs1 |
A |
T |
13: 30,729,071 (GRCm39) |
S54T |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,038,864 (GRCm39) |
T1115A |
probably benign |
Het |
| Zscan4f |
A |
T |
7: 11,251,599 (GRCm39) |
I212F |
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 |
|
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'- TATCAAACATGCTGACAGCCTG -3'
(R):5'- AGAAAGTTCAGAGCTGGAACTC -3'
Sequencing Primer
(F):5'- TCCAAGGAGCTGGCAATTC -3'
(R):5'- ACTCTGGAAAATCATGGGTGTATG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation