Incidental Mutation 'R9129:Cacna2d4'
ID |
693466 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cacna2d4
|
Ensembl Gene |
ENSMUSG00000041460 |
Gene Name |
calcium channel, voltage-dependent, alpha 2/delta subunit 4 |
Synonyms |
5730412N02Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9129 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
119213487-119329368 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 119313415 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037434]
[ENSMUST00000186622]
|
AlphaFold |
Q5RJF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037434
|
SMART Domains |
Protein: ENSMUSP00000044660 Gene: ENSMUSG00000041460
Domain | Start | End | E-Value | Type |
Blast:WNT1
|
79 |
144 |
1e-13 |
BLAST |
Pfam:VWA_N
|
155 |
271 |
7.3e-40 |
PFAM |
VWA
|
296 |
481 |
4.37e-14 |
SMART |
Pfam:Cache_1
|
494 |
586 |
1.1e-24 |
PFAM |
low complexity region
|
837 |
849 |
N/A |
INTRINSIC |
low complexity region
|
975 |
984 |
N/A |
INTRINSIC |
low complexity region
|
1000 |
1011 |
N/A |
INTRINSIC |
low complexity region
|
1120 |
1143 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000186622
|
SMART Domains |
Protein: ENSMUSP00000140197 Gene: ENSMUSG00000041460
Domain | Start | End | E-Value | Type |
Blast:WNT1
|
79 |
144 |
1e-13 |
BLAST |
Pfam:VWA_N
|
155 |
271 |
6.4e-44 |
PFAM |
VWA
|
296 |
481 |
2.7e-16 |
SMART |
Pfam:Cache_1
|
494 |
559 |
1.1e-7 |
PFAM |
low complexity region
|
812 |
824 |
N/A |
INTRINSIC |
low complexity region
|
950 |
959 |
N/A |
INTRINSIC |
low complexity region
|
975 |
986 |
N/A |
INTRINSIC |
low complexity region
|
1095 |
1118 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (68/69) |
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 a spontaneous mutation exhibit severe loss of retinal signaling associated with abnormal photoreceptor ribbon synapses and cone-rod dysfunction. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,523,223 (GRCm39) |
S1238P |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,119,089 (GRCm39) |
L3532S |
probably benign |
Het |
Ankfn1 |
A |
G |
11: 89,312,042 (GRCm39) |
L701P |
|
Het |
Aph1b |
A |
C |
9: 66,686,595 (GRCm39) |
I225S |
probably benign |
Het |
Asic4 |
A |
T |
1: 75,446,469 (GRCm39) |
H337L |
possibly damaging |
Het |
Atp8b3 |
T |
C |
10: 80,368,412 (GRCm39) |
E187G |
probably damaging |
Het |
Atp9a |
A |
G |
2: 168,517,205 (GRCm39) |
M376T |
probably benign |
Het |
Bod1l |
G |
T |
5: 41,976,220 (GRCm39) |
T1698K |
probably damaging |
Het |
Catsper1 |
C |
A |
19: 5,390,402 (GRCm39) |
|
probably benign |
Het |
Cd248 |
T |
C |
19: 5,120,140 (GRCm39) |
S663P |
probably benign |
Het |
Crispld2 |
A |
T |
8: 120,737,488 (GRCm39) |
M80L |
possibly damaging |
Het |
Cwc22 |
G |
A |
2: 77,726,659 (GRCm39) |
Q807* |
probably null |
Het |
Cyp2a4 |
T |
C |
7: 26,014,136 (GRCm39) |
Y438H |
probably benign |
Het |
Cyp2b23 |
A |
T |
7: 26,381,189 (GRCm39) |
|
probably benign |
Het |
Dsp |
T |
A |
13: 38,377,126 (GRCm39) |
V1637D |
probably benign |
Het |
Elovl1 |
A |
T |
4: 118,289,156 (GRCm39) |
Y227F |
possibly damaging |
Het |
Ern1 |
T |
C |
11: 106,300,946 (GRCm39) |
K483E |
probably benign |
Het |
Fzd2 |
T |
C |
11: 102,496,465 (GRCm39) |
F303S |
probably benign |
Het |
Gm9944 |
A |
T |
4: 144,179,763 (GRCm39) |
V42D |
unknown |
Het |
Grik5 |
G |
A |
7: 24,767,429 (GRCm39) |
|
probably benign |
Het |
Hdac4 |
T |
C |
1: 91,909,929 (GRCm39) |
D445G |
probably benign |
Het |
Hinfp |
C |
T |
9: 44,209,062 (GRCm39) |
R352H |
probably damaging |
Het |
Hrnr |
A |
G |
3: 93,231,277 (GRCm39) |
H505R |
unknown |
Het |
Hsfy2 |
C |
T |
1: 56,675,752 (GRCm39) |
D262N |
probably benign |
Het |
Hspa4 |
G |
A |
11: 53,174,463 (GRCm39) |
Q186* |
probably null |
Het |
Ipo8 |
T |
C |
6: 148,700,125 (GRCm39) |
H584R |
probably benign |
Het |
Krtap8-1 |
T |
A |
16: 89,284,636 (GRCm39) |
R54* |
probably null |
Het |
Lama4 |
T |
A |
10: 38,932,887 (GRCm39) |
Y588N |
probably benign |
Het |
Lekr1 |
T |
A |
3: 65,591,426 (GRCm39) |
Y54* |
probably null |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Lypd10 |
A |
G |
7: 24,413,170 (GRCm39) |
D163G |
probably benign |
Het |
Lzts3 |
A |
T |
2: 130,476,865 (GRCm39) |
Y528N |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,676,812 (GRCm39) |
V628E |
probably benign |
Het |
Mgat5b |
A |
C |
11: 116,859,348 (GRCm39) |
|
probably benign |
Het |
Mical2 |
A |
C |
7: 111,870,589 (GRCm39) |
K26T |
possibly damaging |
Het |
Mllt10 |
C |
T |
2: 18,167,404 (GRCm39) |
S443L |
probably benign |
Het |
Mtf1 |
G |
A |
4: 124,698,913 (GRCm39) |
|
probably benign |
Het |
Myom2 |
T |
C |
8: 15,154,068 (GRCm39) |
F669L |
probably damaging |
Het |
Nlrp9c |
A |
T |
7: 26,077,428 (GRCm39) |
|
probably null |
Het |
Nog |
G |
C |
11: 89,192,602 (GRCm39) |
S82W |
probably damaging |
Het |
Ntrk2 |
A |
G |
13: 59,276,084 (GRCm39) |
T795A |
probably benign |
Het |
Or4a78 |
A |
G |
2: 89,497,930 (GRCm39) |
F100S |
probably damaging |
Het |
Or56a3b |
G |
A |
7: 104,771,223 (GRCm39) |
M186I |
probably benign |
Het |
Or5m3 |
A |
T |
2: 85,838,356 (GRCm39) |
M79L |
|
Het |
Or5w17 |
A |
T |
2: 87,584,048 (GRCm39) |
F96L |
probably benign |
Het |
Pira12 |
C |
A |
7: 3,898,500 (GRCm39) |
|
probably null |
Het |
Prl6a1 |
A |
T |
13: 27,502,064 (GRCm39) |
I144L |
|
Het |
Rab11fip5 |
A |
G |
6: 85,317,892 (GRCm39) |
V999A |
probably benign |
Het |
Serpinb6b |
TTGTTTCTGT |
TTGT |
13: 33,162,139 (GRCm39) |
|
probably benign |
Het |
Shisa6 |
A |
G |
11: 66,110,853 (GRCm39) |
M296T |
probably benign |
Het |
Slc18a1 |
T |
A |
8: 69,491,533 (GRCm39) |
T494S |
probably benign |
Het |
Slc22a29 |
T |
G |
19: 8,146,669 (GRCm39) |
I378L |
probably benign |
Het |
Slc23a2 |
C |
T |
2: 131,920,332 (GRCm39) |
|
probably null |
Het |
Slc2a7 |
G |
T |
4: 150,243,001 (GRCm39) |
R274L |
probably benign |
Het |
Spta1 |
A |
G |
1: 174,058,911 (GRCm39) |
T1949A |
possibly damaging |
Het |
Szt2 |
A |
G |
4: 118,221,866 (GRCm39) |
V3339A |
unknown |
Het |
Tcp10a |
G |
A |
17: 7,593,935 (GRCm39) |
D87N |
probably benign |
Het |
Tgm5 |
T |
G |
2: 120,877,270 (GRCm39) |
Q638P |
probably damaging |
Het |
Tmem145 |
A |
G |
7: 25,014,265 (GRCm39) |
T460A |
possibly damaging |
Het |
Ttc3 |
A |
T |
16: 94,185,208 (GRCm39) |
M50L |
probably benign |
Het |
Ush1c |
A |
G |
7: 45,854,629 (GRCm39) |
S708P |
probably benign |
Het |
Vmn1r217 |
T |
A |
13: 23,298,876 (GRCm39) |
T9S |
probably benign |
Het |
Vmn1r26 |
T |
C |
6: 57,985,373 (GRCm39) |
Y272C |
|
Het |
Vmn1r75 |
G |
T |
7: 11,614,513 (GRCm39) |
A82S |
probably benign |
Het |
Vmn2r117 |
T |
A |
17: 23,678,918 (GRCm39) |
R769* |
probably null |
Het |
Vps13b |
C |
A |
15: 35,448,793 (GRCm39) |
A589E |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,898,249 (GRCm39) |
R304W |
|
Het |
Vps41 |
A |
G |
13: 19,011,775 (GRCm39) |
E294G |
probably benign |
Het |
Xpo7 |
T |
C |
14: 70,909,113 (GRCm39) |
T802A |
probably benign |
Het |
Ylpm1 |
T |
A |
12: 85,104,052 (GRCm39) |
D2022E |
|
Het |
Zfp433 |
T |
A |
10: 81,555,724 (GRCm39) |
C75* |
probably null |
Het |
Zyg11a |
A |
T |
4: 108,039,009 (GRCm39) |
S737T |
probably benign |
Het |
|
Other mutations in Cacna2d4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00391:Cacna2d4
|
APN |
6 |
119,314,894 (GRCm39) |
splice site |
probably benign |
|
IGL00469:Cacna2d4
|
APN |
6 |
119,245,239 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00518:Cacna2d4
|
APN |
6 |
119,320,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00946:Cacna2d4
|
APN |
6 |
119,248,876 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01447:Cacna2d4
|
APN |
6 |
119,219,865 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01514:Cacna2d4
|
APN |
6 |
119,259,134 (GRCm39) |
splice site |
probably benign |
|
IGL01576:Cacna2d4
|
APN |
6 |
119,258,602 (GRCm39) |
nonsense |
probably null |
|
IGL01934:Cacna2d4
|
APN |
6 |
119,285,729 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02231:Cacna2d4
|
APN |
6 |
119,254,869 (GRCm39) |
splice site |
probably benign |
|
IGL02516:Cacna2d4
|
APN |
6 |
119,248,831 (GRCm39) |
splice site |
probably benign |
|
IGL02688:Cacna2d4
|
APN |
6 |
119,247,710 (GRCm39) |
splice site |
probably null |
|
IGL03110:Cacna2d4
|
APN |
6 |
119,213,698 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03365:Cacna2d4
|
APN |
6 |
119,248,225 (GRCm39) |
missense |
probably benign |
0.15 |
saccharine
|
UTSW |
6 |
119,322,067 (GRCm39) |
splice site |
probably benign |
|
Steveo
|
UTSW |
6 |
119,324,213 (GRCm39) |
critical splice donor site |
probably null |
|
Sussmann
|
UTSW |
6 |
119,251,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R0139:Cacna2d4
|
UTSW |
6 |
119,255,230 (GRCm39) |
intron |
probably benign |
|
R0157:Cacna2d4
|
UTSW |
6 |
119,289,385 (GRCm39) |
missense |
probably benign |
0.00 |
R0158:Cacna2d4
|
UTSW |
6 |
119,213,709 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0245:Cacna2d4
|
UTSW |
6 |
119,285,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R0612:Cacna2d4
|
UTSW |
6 |
119,258,679 (GRCm39) |
splice site |
probably benign |
|
R0659:Cacna2d4
|
UTSW |
6 |
119,322,067 (GRCm39) |
splice site |
probably benign |
|
R0722:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0743:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0833:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0835:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0836:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0884:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R1052:Cacna2d4
|
UTSW |
6 |
119,277,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R1170:Cacna2d4
|
UTSW |
6 |
119,284,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R1451:Cacna2d4
|
UTSW |
6 |
119,213,785 (GRCm39) |
missense |
probably benign |
0.01 |
R1564:Cacna2d4
|
UTSW |
6 |
119,218,156 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1809:Cacna2d4
|
UTSW |
6 |
119,247,785 (GRCm39) |
missense |
probably damaging |
0.99 |
R1936:Cacna2d4
|
UTSW |
6 |
119,247,722 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2078:Cacna2d4
|
UTSW |
6 |
119,315,077 (GRCm39) |
missense |
probably benign |
0.02 |
R2198:Cacna2d4
|
UTSW |
6 |
119,324,220 (GRCm39) |
splice site |
probably benign |
|
R2280:Cacna2d4
|
UTSW |
6 |
119,327,002 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3757:Cacna2d4
|
UTSW |
6 |
119,218,124 (GRCm39) |
missense |
probably damaging |
0.98 |
R3975:Cacna2d4
|
UTSW |
6 |
119,255,134 (GRCm39) |
splice site |
probably null |
|
R3976:Cacna2d4
|
UTSW |
6 |
119,255,134 (GRCm39) |
splice site |
probably null |
|
R4238:Cacna2d4
|
UTSW |
6 |
119,217,669 (GRCm39) |
missense |
probably null |
1.00 |
R4591:Cacna2d4
|
UTSW |
6 |
119,275,425 (GRCm39) |
missense |
probably benign |
0.02 |
R4856:Cacna2d4
|
UTSW |
6 |
119,255,217 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4899:Cacna2d4
|
UTSW |
6 |
119,245,157 (GRCm39) |
nonsense |
probably null |
|
R5319:Cacna2d4
|
UTSW |
6 |
119,324,213 (GRCm39) |
critical splice donor site |
probably null |
|
R5351:Cacna2d4
|
UTSW |
6 |
119,245,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R5366:Cacna2d4
|
UTSW |
6 |
119,251,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R5393:Cacna2d4
|
UTSW |
6 |
119,216,015 (GRCm39) |
missense |
probably benign |
0.20 |
R5395:Cacna2d4
|
UTSW |
6 |
119,248,379 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5408:Cacna2d4
|
UTSW |
6 |
119,325,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R5603:Cacna2d4
|
UTSW |
6 |
119,221,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R5661:Cacna2d4
|
UTSW |
6 |
119,320,492 (GRCm39) |
missense |
probably benign |
|
R5898:Cacna2d4
|
UTSW |
6 |
119,251,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R5928:Cacna2d4
|
UTSW |
6 |
119,258,659 (GRCm39) |
missense |
probably benign |
0.06 |
R6186:Cacna2d4
|
UTSW |
6 |
119,258,650 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6218:Cacna2d4
|
UTSW |
6 |
119,216,021 (GRCm39) |
missense |
probably damaging |
0.99 |
R6257:Cacna2d4
|
UTSW |
6 |
119,258,580 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6409:Cacna2d4
|
UTSW |
6 |
119,259,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R6931:Cacna2d4
|
UTSW |
6 |
119,259,195 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7221:Cacna2d4
|
UTSW |
6 |
119,213,624 (GRCm39) |
missense |
probably benign |
0.02 |
R7363:Cacna2d4
|
UTSW |
6 |
119,320,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R7371:Cacna2d4
|
UTSW |
6 |
119,285,670 (GRCm39) |
missense |
probably benign |
0.07 |
R7382:Cacna2d4
|
UTSW |
6 |
119,216,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R7431:Cacna2d4
|
UTSW |
6 |
119,221,237 (GRCm39) |
missense |
probably damaging |
0.98 |
R7517:Cacna2d4
|
UTSW |
6 |
119,248,882 (GRCm39) |
missense |
probably benign |
0.01 |
R7527:Cacna2d4
|
UTSW |
6 |
119,248,208 (GRCm39) |
missense |
probably benign |
0.00 |
R7529:Cacna2d4
|
UTSW |
6 |
119,247,727 (GRCm39) |
missense |
probably benign |
0.01 |
R7710:Cacna2d4
|
UTSW |
6 |
119,251,200 (GRCm39) |
missense |
probably benign |
0.05 |
R7880:Cacna2d4
|
UTSW |
6 |
119,326,116 (GRCm39) |
missense |
probably damaging |
0.99 |
R8007:Cacna2d4
|
UTSW |
6 |
119,289,405 (GRCm39) |
missense |
probably benign |
|
R8084:Cacna2d4
|
UTSW |
6 |
119,277,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R8159:Cacna2d4
|
UTSW |
6 |
119,274,488 (GRCm39) |
missense |
probably benign |
0.01 |
R8391:Cacna2d4
|
UTSW |
6 |
119,325,706 (GRCm39) |
missense |
probably benign |
0.04 |
R8700:Cacna2d4
|
UTSW |
6 |
119,258,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R8857:Cacna2d4
|
UTSW |
6 |
119,248,909 (GRCm39) |
nonsense |
probably null |
|
R8973:Cacna2d4
|
UTSW |
6 |
119,218,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R8976:Cacna2d4
|
UTSW |
6 |
119,315,118 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8998:Cacna2d4
|
UTSW |
6 |
119,219,876 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9199:Cacna2d4
|
UTSW |
6 |
119,244,787 (GRCm39) |
missense |
probably benign |
0.12 |
R9228:Cacna2d4
|
UTSW |
6 |
119,248,476 (GRCm39) |
missense |
probably benign |
0.07 |
R9310:Cacna2d4
|
UTSW |
6 |
119,248,914 (GRCm39) |
critical splice donor site |
probably null |
|
R9315:Cacna2d4
|
UTSW |
6 |
119,213,670 (GRCm39) |
missense |
probably benign |
|
R9335:Cacna2d4
|
UTSW |
6 |
119,279,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R9416:Cacna2d4
|
UTSW |
6 |
119,274,479 (GRCm39) |
missense |
probably benign |
0.06 |
R9514:Cacna2d4
|
UTSW |
6 |
119,213,611 (GRCm39) |
missense |
probably benign |
|
R9600:Cacna2d4
|
UTSW |
6 |
119,322,023 (GRCm39) |
missense |
probably benign |
0.02 |
RF023:Cacna2d4
|
UTSW |
6 |
119,245,191 (GRCm39) |
missense |
probably benign |
0.19 |
Z1176:Cacna2d4
|
UTSW |
6 |
119,289,411 (GRCm39) |
missense |
probably benign |
0.23 |
|
Predicted Primers |
PCR Primer
(F):5'- TCACCAGAGACTCAGCCTTC -3'
(R):5'- GGTCTGATCAGGGACAAGAC -3'
Sequencing Primer
(F):5'- AGCTCAGCCGCTGTGATAAG -3'
(R):5'- TCTGATCAGGGACAAGACACTGG -3'
|
Posted On |
2022-01-20 |