Incidental Mutation 'R7427:Cacna2d3'
| ID |
576203 |
| 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 |
045505-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7427 (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: 99.4%
|
| Validation Efficiency |
100% (78/78) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
T |
A |
15: 76,478,585 (GRCm39) |
C318S |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,385,354 (GRCm39) |
C333S |
probably benign |
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 |
| Ccn2 |
T |
G |
10: 24,473,397 (GRCm39) |
M312R |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,060,546 (GRCm39) |
W1913R |
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 |
| Cxcl16 |
A |
G |
11: 70,349,630 (GRCm39) |
V78A |
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 |
| Dnah9 |
T |
C |
11: 65,846,045 (GRCm39) |
T2998A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,286,988 (GRCm39) |
S1254P |
unknown |
Het |
| Gm21886 |
A |
T |
18: 80,132,867 (GRCm39) |
L97Q |
probably damaging |
Het |
| Gpr158 |
A |
C |
2: 21,832,129 (GRCm39) |
L1076F |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,009,485 (GRCm39) |
M1714T |
possibly 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 |
| Il1rn |
C |
A |
2: 24,239,554 (GRCm39) |
T150K |
probably benign |
Het |
| Il6st |
A |
G |
13: 112,625,094 (GRCm39) |
I237V |
probably benign |
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 |
| Kit |
G |
A |
5: 75,806,507 (GRCm39) |
V671I |
possibly damaging |
Het |
| Klhdc8a |
A |
T |
1: 132,230,705 (GRCm39) |
N190I |
probably damaging |
Het |
| Lad1 |
C |
T |
1: 135,753,576 (GRCm39) |
T41I |
probably damaging |
Het |
| Lrrc7 |
G |
T |
3: 157,903,778 (GRCm39) |
T294K |
probably benign |
Het |
| Megf8 |
C |
T |
7: 25,037,796 (GRCm39) |
R771C |
probably benign |
Het |
| Micu3 |
A |
C |
8: 40,831,955 (GRCm39) |
N440T |
possibly damaging |
Het |
| Mnx1 |
T |
C |
5: 29,679,211 (GRCm39) |
N291D |
unknown |
Het |
| Mthfr |
A |
G |
4: 148,136,060 (GRCm39) |
M378V |
probably benign |
Het |
| Mup2 |
A |
T |
4: 60,138,454 (GRCm39) |
D79E |
probably benign |
Het |
| Myzap |
T |
C |
9: 71,412,465 (GRCm39) |
T451A |
probably benign |
Het |
| Nlrp9c |
T |
C |
7: 26,070,860 (GRCm39) |
D907G |
probably benign |
Het |
| Nr1h4 |
T |
C |
10: 89,334,267 (GRCm39) |
E41G |
probably benign |
Het |
| Nup98 |
A |
T |
7: 101,784,208 (GRCm39) |
|
probably null |
Het |
| Nxpe5 |
A |
C |
5: 138,238,022 (GRCm39) |
Y194S |
probably damaging |
Het |
| Omd |
A |
T |
13: 49,745,745 (GRCm39) |
E385V |
possibly damaging |
Het |
| Or12d15 |
T |
C |
17: 37,694,190 (GRCm39) |
V244A |
probably damaging |
Het |
| Or12e9 |
G |
T |
2: 87,202,034 (GRCm39) |
V53L |
probably benign |
Het |
| Or2av9 |
A |
G |
11: 58,380,606 (GRCm39) |
I325T |
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 |
| Pcdh9 |
G |
T |
14: 94,124,547 (GRCm39) |
T541K |
probably damaging |
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 |
| Pitx3 |
T |
C |
19: 46,125,863 (GRCm39) |
D20G |
possibly damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,937,236 (GRCm39) |
V1139A |
probably benign |
Het |
| Pon2 |
A |
T |
6: 5,268,995 (GRCm39) |
N226K |
probably damaging |
Het |
| Potegl |
C |
T |
2: 23,147,006 (GRCm39) |
R337C |
probably benign |
Het |
| Ppp1r10 |
T |
A |
17: 36,241,025 (GRCm39) |
H642Q |
possibly damaging |
Het |
| Prom2 |
A |
G |
2: 127,381,731 (GRCm39) |
L195P |
probably damaging |
Het |
| Psg23 |
C |
T |
7: 18,345,908 (GRCm39) |
|
probably null |
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 |
| Rhot2 |
A |
T |
17: 26,060,583 (GRCm39) |
V233E |
probably damaging |
Het |
| Ripply2 |
T |
C |
9: 86,901,809 (GRCm39) |
S112P |
possibly 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 |
| Slco1a8 |
T |
G |
6: 141,949,234 (GRCm39) |
|
probably null |
Het |
| Sned1 |
G |
A |
1: 93,217,080 (GRCm39) |
V1322I |
probably benign |
Het |
| Sprr2f |
G |
A |
3: 92,273,251 (GRCm39) |
V17M |
unknown |
Het |
| Srd5a3 |
A |
G |
5: 76,302,490 (GRCm39) |
H285R |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,881,216 (GRCm39) |
T605A |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,223,718 (GRCm39) |
Q3054R |
probably damaging |
Het |
| Tas1r1 |
T |
C |
4: 152,122,765 (GRCm39) |
T27A |
probably benign |
Het |
| Tmem150b |
A |
T |
7: 4,719,209 (GRCm39) |
V237E |
probably benign |
Het |
| Trpv6 |
C |
T |
6: 41,602,087 (GRCm39) |
M407I |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,550,698 (GRCm39) |
D31528A |
probably damaging |
Het |
| Uroc1 |
A |
T |
6: 90,323,344 (GRCm39) |
D354V |
possibly damaging |
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 |
| 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 |
|
|
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'- ACACTGTGAACTGGTTAACAATAGC -3'
(R):5'- ATTCTTCCCTGGAGAGCTGATTTAG -3'
Sequencing Primer
(F):5'- AGCACTACATGAGTCTTGTTAGAG -3'
(R):5'- AGAGTTCTGCATGCTTAGCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation