Incidental Mutation 'IGL02516:Cacna2d4'
ID 296805
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacna2d4
Ensembl Gene ENSMUSG00000041460
Gene Name calcium channel, voltage-dependent, alpha 2/delta subunit 4
Synonyms 5730412N02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02516
Quality Score
Status
Chromosome 6
Chromosomal Location 119213487-119329368 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 119248831 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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000186176
Predicted Effect probably benign
Transcript: ENSMUST00000186622
SMART Domains Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191331
Coding Region Coverage
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 C T 8: 25,388,612 (GRCm39) S364N probably damaging Het
Ano8 C T 8: 71,937,721 (GRCm39) G47D probably damaging Het
App T C 16: 84,752,305 (GRCm39) T743A probably damaging Het
Armc3 A G 2: 19,305,317 (GRCm39) K692E possibly damaging Het
Arpp21 T C 9: 112,014,729 (GRCm39) N25S probably damaging Het
Avpr1b G A 1: 131,528,367 (GRCm39) V297I probably damaging Het
Bpi A G 2: 158,109,651 (GRCm39) I200V possibly damaging Het
Cbarp A G 10: 79,971,379 (GRCm39) Y149H probably damaging Het
Ccdc85c T C 12: 108,241,160 (GRCm39) N78S unknown Het
Cdcp1 G T 9: 123,002,702 (GRCm39) L790M possibly damaging Het
Cdkn2d T A 9: 21,200,439 (GRCm39) I111F probably benign Het
Ctsr A G 13: 61,310,992 (GRCm39) V18A probably benign Het
Dapk1 A G 13: 60,844,161 (GRCm39) D60G probably damaging Het
Daw1 A C 1: 83,186,949 (GRCm39) N253T probably benign Het
Dcaf7 T A 11: 105,942,698 (GRCm39) I215N probably damaging Het
Ddc A C 11: 11,779,125 (GRCm39) L333R probably damaging Het
Dennd1a A G 2: 37,742,406 (GRCm39) probably null Het
Dnah10 C A 5: 124,864,395 (GRCm39) T2200K probably damaging Het
Dock6 T C 9: 21,713,881 (GRCm39) Y1883C probably damaging Het
Ecpas T C 4: 58,877,102 (GRCm39) E111G probably damaging Het
Eif2ak4 T A 2: 118,266,735 (GRCm39) I752N probably damaging Het
Fcho2 A G 13: 98,866,720 (GRCm39) I740T probably benign Het
Flnc A G 6: 29,450,840 (GRCm39) D1496G probably damaging Het
Fn1 A G 1: 71,676,482 (GRCm39) V583A possibly damaging Het
Greb1l A C 18: 10,537,064 (GRCm39) T1010P probably benign Het
Hs3st6 T C 17: 24,977,105 (GRCm39) L195P probably damaging Het
Hyi A G 4: 118,219,680 (GRCm39) E239G probably damaging Het
Ighv2-3 G T 12: 113,574,818 (GRCm39) Y112* probably null Het
Ints3 A G 3: 90,310,415 (GRCm39) F495S probably damaging Het
Itih2 T A 2: 10,102,728 (GRCm39) H802L probably benign Het
Jag2 C T 12: 112,874,186 (GRCm39) V990M probably damaging Het
Kat6b T C 14: 21,659,936 (GRCm39) probably benign Het
Krtap4-8 C T 11: 99,671,168 (GRCm39) probably benign Het
Lhx4 A G 1: 155,578,003 (GRCm39) S380P probably damaging Het
Morn3 C A 5: 123,175,363 (GRCm39) E33* probably null Het
Mug2 C T 6: 122,047,802 (GRCm39) A771V probably damaging Het
N4bp3 A T 11: 51,535,161 (GRCm39) S343T probably benign Het
Nlrp1a T C 11: 71,005,286 (GRCm39) N643S probably damaging Het
Or2c1 A C 16: 3,657,200 (GRCm39) D121A probably damaging Het
Or2h1b T A 17: 37,462,163 (GRCm39) R79S possibly damaging Het
Or6c8 T A 10: 128,915,662 (GRCm39) M57L possibly damaging Het
Phc3 A G 3: 31,002,942 (GRCm39) F192S probably damaging Het
Pigq C T 17: 26,156,221 (GRCm39) R69H probably benign Het
Plk3 A G 4: 116,989,186 (GRCm39) C222R probably damaging Het
Pomt2 T C 12: 87,166,420 (GRCm39) T490A probably benign Het
Prss29 T C 17: 25,539,875 (GRCm39) I91T probably damaging Het
Ralgapb A T 2: 158,307,735 (GRCm39) probably benign Het
Sccpdh G A 1: 179,509,256 (GRCm39) G75D probably damaging Het
Serpine2 T C 1: 79,772,714 (GRCm39) probably benign Het
Sfr1 T G 19: 47,721,429 (GRCm39) probably null Het
Slc22a23 C A 13: 34,387,938 (GRCm39) C386F probably benign Het
Slc22a27 T C 19: 7,842,176 (GRCm39) K433R probably damaging Het
Slc39a12 T C 2: 14,405,146 (GRCm39) L246P probably damaging Het
Slc4a11 A G 2: 130,533,313 (GRCm39) I191T possibly damaging Het
Slc9c1 A G 16: 45,398,238 (GRCm39) N668D probably damaging Het
Supt16 A T 14: 52,421,421 (GRCm39) D41E possibly damaging Het
Tamalin G A 15: 101,126,932 (GRCm39) V137I probably damaging Het
Ugt2b37 A G 5: 87,388,741 (GRCm39) S491P probably damaging Het
Urb1 G T 16: 90,569,583 (GRCm39) T1381N possibly damaging Het
Usp8 A G 2: 126,584,094 (GRCm39) I423M probably benign Het
Vmn1r191 T A 13: 22,363,710 (GRCm39) I15F probably benign Het
Zbtb5 A T 4: 44,993,798 (GRCm39) Y529N probably damaging Het
Zfp541 T A 7: 15,816,918 (GRCm39) probably null Het
Other mutations in Cacna2d4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9129:Cacna2d4 UTSW 6 119,313,415 (GRCm39) critical splice donor site probably null
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
Posted On 2015-04-16