Incidental Mutation 'R6103:Cacna2d3'
| ID |
485393 |
| 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 |
044253-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6103 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
28626900-29443821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29118446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 159
(H159R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022567]
|
| AlphaFold |
Q9Z1L5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022567
AA Change: H159R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: H159R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (55/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,768,445 (GRCm39) |
S926P |
possibly damaging |
Het |
| Acacb |
T |
A |
5: 114,383,942 (GRCm39) |
M2157K |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,797,452 (GRCm39) |
V636A |
probably benign |
Het |
| Adgrf3 |
T |
C |
5: 30,401,265 (GRCm39) |
Y51C |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,272,055 (GRCm39) |
T1568A |
possibly damaging |
Het |
| Ank1 |
T |
A |
8: 23,603,999 (GRCm39) |
S937T |
probably damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,508,578 (GRCm39) |
E340G |
probably damaging |
Het |
| Avpr1b |
C |
T |
1: 131,537,155 (GRCm39) |
P90S |
probably damaging |
Het |
| Carmil3 |
A |
T |
14: 55,742,884 (GRCm39) |
T1185S |
probably benign |
Het |
| Casp2 |
A |
T |
6: 42,256,814 (GRCm39) |
R357S |
probably damaging |
Het |
| Ccdc34 |
A |
G |
2: 109,848,352 (GRCm39) |
D47G |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,605,596 (GRCm39) |
|
probably null |
Het |
| Cd209d |
T |
C |
8: 3,928,304 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cep350 |
T |
A |
1: 155,800,322 (GRCm39) |
D1176V |
probably benign |
Het |
| Cpd |
A |
T |
11: 76,690,625 (GRCm39) |
S844T |
probably benign |
Het |
| Cyp4x1 |
A |
G |
4: 114,968,864 (GRCm39) |
L380P |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,626,781 (GRCm39) |
V376A |
probably benign |
Het |
| Enam |
T |
A |
5: 88,650,187 (GRCm39) |
N565K |
probably damaging |
Het |
| Fam110c |
G |
A |
12: 31,124,794 (GRCm39) |
W252* |
probably null |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Fgb |
T |
C |
3: 82,951,170 (GRCm39) |
D281G |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,457,209 (GRCm39) |
T2048S |
probably benign |
Het |
| Fut8 |
A |
T |
12: 77,378,721 (GRCm39) |
|
probably benign |
Het |
| Glmp |
T |
C |
3: 88,235,338 (GRCm39) |
S238P |
probably benign |
Het |
| Gm35315 |
T |
A |
5: 110,226,137 (GRCm39) |
Y434F |
probably damaging |
Het |
| Gnpnat1 |
A |
G |
14: 45,620,856 (GRCm39) |
F71S |
probably damaging |
Het |
| Gpnmb |
A |
G |
6: 49,019,820 (GRCm39) |
R64G |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,323,547 (GRCm39) |
F275S |
possibly damaging |
Het |
| Ift140 |
T |
A |
17: 25,312,100 (GRCm39) |
C1314S |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,318,917 (GRCm39) |
I127T |
possibly damaging |
Het |
| Mmd2 |
A |
G |
5: 142,553,618 (GRCm39) |
|
probably null |
Het |
| Ms4a3 |
A |
T |
19: 11,616,582 (GRCm39) |
V20D |
possibly damaging |
Het |
| Mtres1 |
A |
T |
10: 43,408,916 (GRCm39) |
Y76N |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,460,663 (GRCm39) |
E272G |
probably damaging |
Het |
| Naaladl1 |
G |
A |
19: 6,158,743 (GRCm39) |
G292S |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,043,059 (GRCm39) |
Y1475N |
possibly damaging |
Het |
| Obp2a |
G |
A |
2: 25,590,163 (GRCm39) |
E21K |
probably damaging |
Het |
| Or5ar1 |
A |
G |
2: 85,671,776 (GRCm39) |
Y120H |
probably damaging |
Het |
| Osbpl10 |
T |
A |
9: 114,890,940 (GRCm39) |
Y109* |
probably null |
Het |
| Plcd1 |
A |
T |
9: 118,901,109 (GRCm39) |
W749R |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,377,704 (GRCm39) |
E718G |
possibly damaging |
Het |
| Rbm4 |
C |
T |
19: 4,837,947 (GRCm39) |
R295H |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Setdb2 |
T |
C |
14: 59,646,981 (GRCm39) |
|
probably null |
Het |
| Slc25a18 |
C |
A |
6: 120,766,399 (GRCm39) |
L131I |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,064,809 (GRCm39) |
H221R |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,026,979 (GRCm39) |
W757R |
probably damaging |
Het |
| Tmem183a |
C |
A |
1: 134,275,884 (GRCm39) |
V331L |
probably benign |
Het |
| Try10 |
C |
A |
6: 41,333,484 (GRCm39) |
H76Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,748,599 (GRCm39) |
H4150L |
probably benign |
Het |
| Vmn2r52 |
G |
A |
7: 9,905,327 (GRCm39) |
P171S |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,652,826 (GRCm39) |
T450A |
probably benign |
Het |
| Yipf7 |
A |
T |
5: 69,698,405 (GRCm39) |
V34D |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zg16 |
A |
G |
7: 126,649,748 (GRCm39) |
V71A |
probably benign |
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 |
|
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'- TGCACTGCACATTAACATGAAGG -3'
(R):5'- ACCTAGGTCTGCCTTGAAGTG -3'
Sequencing Primer
(F):5'- CTGAGAGTCTCCAGGCAGAAC -3'
(R):5'- GTGTTAGCACTAACCCCTGAAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation