Incidental Mutation 'R7428:Cacna2d3'
ID |
576272 |
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 |
045506-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7428 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
28626900-29443821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 28786232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 585
(M585T)
|
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: M585T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000022567 Gene: ENSMUSG00000021991 AA Change: M585T
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 damaging
Transcript: ENSMUST00000225733
AA Change: M319T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225863
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (71/71) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa10 |
T |
A |
8: 62,545,543 (GRCm39) |
Y63F |
probably benign |
Het |
Atl2 |
T |
C |
17: 80,183,227 (GRCm39) |
|
probably null |
Het |
B3gnt4 |
A |
G |
5: 123,648,794 (GRCm39) |
N53S |
probably damaging |
Het |
Bpifb5 |
G |
A |
2: 154,067,042 (GRCm39) |
M98I |
probably benign |
Het |
Cbarp |
T |
C |
10: 79,967,138 (GRCm39) |
D701G |
probably damaging |
Het |
Cep295 |
A |
G |
9: 15,244,794 (GRCm39) |
S1221P |
possibly damaging |
Het |
Cep350 |
T |
C |
1: 155,770,365 (GRCm39) |
S1842G |
probably benign |
Het |
Cntrl |
T |
A |
2: 35,060,546 (GRCm39) |
W1913R |
probably benign |
Het |
Creb5 |
C |
A |
6: 53,658,143 (GRCm39) |
Q158K |
unknown |
Het |
Crtam |
G |
C |
9: 40,892,478 (GRCm39) |
A266G |
probably benign |
Het |
Cry2 |
T |
C |
2: 92,243,392 (GRCm39) |
D483G |
possibly damaging |
Het |
Csmd1 |
A |
G |
8: 16,073,864 (GRCm39) |
F2044L |
possibly damaging |
Het |
Cxcr6 |
A |
T |
9: 123,639,305 (GRCm39) |
Y109F |
probably benign |
Het |
Cyb5b |
A |
G |
8: 107,897,048 (GRCm39) |
D106G |
probably benign |
Het |
D630036H23Rik |
T |
C |
12: 36,431,537 (GRCm39) |
R154G |
unknown |
Het |
Ddit4l |
A |
G |
3: 137,331,931 (GRCm39) |
E99G |
probably damaging |
Het |
Dmbt1 |
A |
T |
7: 130,710,192 (GRCm39) |
T1495S |
possibly damaging |
Het |
Gm21886 |
A |
T |
18: 80,132,867 (GRCm39) |
L97Q |
probably damaging |
Het |
Hlcs |
A |
G |
16: 94,068,758 (GRCm39) |
V154A |
probably benign |
Het |
Hpdl |
A |
T |
4: 116,678,062 (GRCm39) |
L133Q |
probably damaging |
Het |
Inpp5f |
A |
G |
7: 128,281,529 (GRCm39) |
D510G |
probably damaging |
Het |
Ism2 |
G |
T |
12: 87,333,769 (GRCm39) |
T92K |
possibly damaging |
Het |
Kif13b |
T |
C |
14: 65,025,909 (GRCm39) |
I1422T |
probably benign |
Het |
Leng8 |
C |
T |
7: 4,146,572 (GRCm39) |
R395W |
probably damaging |
Het |
Mocs2 |
A |
G |
13: 114,957,400 (GRCm39) |
I6V |
probably benign |
Het |
Mthfr |
A |
G |
4: 148,136,060 (GRCm39) |
M378V |
probably benign |
Het |
Myh13 |
A |
G |
11: 67,223,390 (GRCm39) |
T237A |
probably damaging |
Het |
Nr1h4 |
T |
C |
10: 89,334,267 (GRCm39) |
E41G |
probably benign |
Het |
Nup205 |
T |
A |
6: 35,204,494 (GRCm39) |
I1460N |
probably damaging |
Het |
Nup98 |
A |
T |
7: 101,784,208 (GRCm39) |
|
probably null |
Het |
Nxpe5 |
A |
C |
5: 138,238,022 (GRCm39) |
Y194S |
probably damaging |
Het |
Or12e9 |
G |
T |
2: 87,202,034 (GRCm39) |
V53L |
probably benign |
Het |
Or52m1 |
A |
G |
7: 102,289,533 (GRCm39) |
I27V |
probably benign |
Het |
Or5m12 |
T |
A |
2: 85,734,475 (GRCm39) |
R308* |
probably null |
Het |
Or5m3 |
A |
T |
2: 85,838,563 (GRCm39) |
I148L |
probably benign |
Het |
Or9s18 |
A |
G |
13: 65,300,866 (GRCm39) |
Y276C |
probably damaging |
Het |
Otof |
G |
T |
5: 30,547,169 (GRCm39) |
D383E |
probably damaging |
Het |
Pcdh9 |
G |
T |
14: 94,124,547 (GRCm39) |
T541K |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,800,531 (GRCm39) |
I1179F |
|
Het |
Pde6c |
T |
C |
19: 38,145,984 (GRCm39) |
|
probably null |
Het |
Pdia6 |
T |
C |
12: 17,328,546 (GRCm39) |
V167A |
probably damaging |
Het |
Phf7 |
C |
T |
14: 30,962,370 (GRCm39) |
R145Q |
possibly damaging |
Het |
Plxnb1 |
T |
C |
9: 108,937,236 (GRCm39) |
V1139A |
probably benign |
Het |
Prkg1 |
T |
C |
19: 30,556,235 (GRCm39) |
I585M |
probably damaging |
Het |
Prom2 |
A |
G |
2: 127,381,731 (GRCm39) |
L195P |
probably damaging |
Het |
Ptprd |
G |
A |
4: 76,004,705 (GRCm39) |
P17S |
probably benign |
Het |
Rfx4 |
C |
A |
10: 84,731,876 (GRCm39) |
Q618K |
probably benign |
Het |
Rhobtb1 |
T |
A |
10: 69,084,654 (GRCm39) |
I15N |
probably damaging |
Het |
Sap30 |
C |
T |
8: 57,940,546 (GRCm39) |
V19M |
possibly damaging |
Het |
Scrib |
G |
A |
15: 75,933,047 (GRCm39) |
T721M |
probably damaging |
Het |
Slc12a1 |
C |
A |
2: 125,056,052 (GRCm39) |
T861N |
probably benign |
Het |
Slc35f1 |
T |
A |
10: 52,965,510 (GRCm39) |
S308R |
probably damaging |
Het |
Slc35f4 |
T |
A |
14: 49,536,355 (GRCm39) |
I427F |
probably damaging |
Het |
Slco4c1 |
T |
C |
1: 96,765,245 (GRCm39) |
T402A |
possibly damaging |
Het |
Sprr2f |
G |
A |
3: 92,273,251 (GRCm39) |
V17M |
unknown |
Het |
Stab1 |
T |
C |
14: 30,881,216 (GRCm39) |
T605A |
probably benign |
Het |
Taar8c |
A |
C |
10: 23,977,446 (GRCm39) |
L122R |
probably damaging |
Het |
Tbc1d2 |
G |
A |
4: 46,649,965 (GRCm39) |
P24S |
probably benign |
Het |
Tex36 |
T |
C |
7: 133,196,866 (GRCm39) |
|
probably null |
Het |
Tmem145 |
T |
C |
7: 25,006,590 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
G |
2: 76,550,698 (GRCm39) |
D31528A |
probably damaging |
Het |
Vars2 |
A |
T |
17: 35,977,578 (GRCm39) |
V118E |
probably benign |
Het |
Vmn1r195 |
T |
C |
13: 22,463,022 (GRCm39) |
V164A |
probably benign |
Het |
Vmn2r69 |
T |
C |
7: 85,060,467 (GRCm39) |
I372M |
probably benign |
Het |
Vmn2r93 |
A |
T |
17: 18,546,672 (GRCm39) |
H848L |
probably benign |
Het |
Wnt9b |
T |
C |
11: 103,621,643 (GRCm39) |
Q338R |
probably benign |
Het |
Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
Zfp541 |
A |
T |
7: 15,826,793 (GRCm39) |
R1181W |
probably damaging |
Het |
Zfp867 |
C |
T |
11: 59,354,760 (GRCm39) |
G190S |
probably benign |
Het |
Zfp971 |
T |
A |
2: 177,674,967 (GRCm39) |
C189S |
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 |
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'- CTGGTTAACAATAGCACTACATGAGTC -3'
(R):5'- AGAGGAGCTGGATTCTTCCC -3'
Sequencing Primer
(F):5'- AGCACTACATGAGTCTTGTTAGAG -3'
(R):5'- AGAGTTCTGCATGCTTAGCC -3'
|
Posted On |
2019-10-07 |