Incidental Mutation 'IGL01645:Cacna2d1'
ID 102650
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacna2d1
Ensembl Gene ENSMUSG00000040118
Gene Name calcium channel, voltage-dependent, alpha2/delta subunit 1
Synonyms Cchl2a, Cacna2, Ca(v)alpha2delta1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # IGL01645
Quality Score
Status
Chromosome 5
Chromosomal Location 16139689-16579509 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 16217389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039370] [ENSMUST00000078272] [ENSMUST00000101581] [ENSMUST00000115281] [ENSMUST00000167946] [ENSMUST00000180204] [ENSMUST00000196750] [ENSMUST00000199704]
AlphaFold O08532
Predicted Effect probably null
Transcript: ENSMUST00000039370
SMART Domains Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:VWA_N 104 223 6.3e-42 PFAM
VWA 251 425 5.16e-25 SMART
Pfam:Cache_1 446 536 1e-31 PFAM
Pfam:VGCC_alpha2 562 655 1e-46 PFAM
low complexity region 675 686 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000078272
SMART Domains Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:VWA_N 104 223 1.2e-45 PFAM
VWA 251 425 5.16e-25 SMART
Pfam:Cache_1 446 537 1.1e-30 PFAM
Pfam:VGCC_alpha2 543 634 3.3e-53 PFAM
low complexity region 656 667 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000101581
SMART Domains Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:VWA_N 104 223 1.2e-45 PFAM
VWA 251 425 5.16e-25 SMART
Pfam:Cache_1 446 537 1.1e-30 PFAM
Pfam:VGCC_alpha2 543 636 1.2e-59 PFAM
low complexity region 663 674 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115281
SMART Domains Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:VWA_N 104 223 6.2e-46 PFAM
VWA 251 425 5.16e-25 SMART
Pfam:Cache_1 446 533 3.8e-30 PFAM
Pfam:VGCC_alpha2 538 631 6.2e-60 PFAM
low complexity region 658 669 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000167946
SMART Domains Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:VWA_N 104 223 3.8e-46 PFAM
VWA 251 425 5.16e-25 SMART
Pfam:Cache_1 446 537 2.6e-30 PFAM
Pfam:VGCC_alpha2 543 636 5.5e-56 PFAM
low complexity region 663 674 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000180204
SMART Domains Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:VWA_N 104 223 6.2e-46 PFAM
VWA 251 425 5.16e-25 SMART
Pfam:Cache_1 446 533 3.8e-30 PFAM
Pfam:VGCC_alpha2 538 631 6.2e-60 PFAM
low complexity region 658 669 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000196750
SMART Domains Protein: ENSMUSP00000143082
Gene: ENSMUSG00000040118

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000199704
SMART Domains Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:VWA_N 104 223 1.2e-45 PFAM
VWA 251 425 5.16e-25 SMART
Pfam:Cache_1 446 533 6.3e-30 PFAM
Pfam:VGCC_alpha2 538 629 3.3e-53 PFAM
low complexity region 651 662 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a regulatory component of the voltage-dependent calcium channel complex. The product of this gene is a proprotein that is proteolytically processed into alpha-2 and delta subunits, which are linked by a disulfide bond. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C T 7: 45,764,477 (GRCm39) C1156Y possibly damaging Het
Armh4 T C 14: 50,011,011 (GRCm39) E232G probably damaging Het
Atp8b1 G A 18: 64,679,184 (GRCm39) H766Y probably benign Het
Card11 T A 5: 140,863,778 (GRCm39) T987S probably benign Het
Dennd2b T A 7: 109,126,841 (GRCm39) K540* probably null Het
Dmxl2 A T 9: 54,286,017 (GRCm39) Y2723N possibly damaging Het
Dnah11 T A 12: 118,150,733 (GRCm39) I342F possibly damaging Het
Dnajc10 A G 2: 80,170,871 (GRCm39) H454R possibly damaging Het
Dpy19l3 T C 7: 35,394,763 (GRCm39) T592A probably benign Het
Eea1 T A 10: 95,825,451 (GRCm39) S49T probably damaging Het
Esd T A 14: 74,987,159 (GRCm39) N294K probably benign Het
Fmo3 A G 1: 162,791,575 (GRCm39) V234A possibly damaging Het
Folh1 A G 7: 86,391,435 (GRCm39) F420L probably damaging Het
Gabra1 T C 11: 42,026,389 (GRCm39) N301S probably damaging Het
Gm5422 A T 10: 31,126,069 (GRCm39) noncoding transcript Het
Gorab A T 1: 163,214,000 (GRCm39) L310Q possibly damaging Het
Gsdme A G 6: 50,228,316 (GRCm39) Y51H probably damaging Het
Hrob T C 11: 102,146,012 (GRCm39) L96P probably damaging Het
Itpr1 T C 6: 108,450,560 (GRCm39) I1964T possibly damaging Het
Lmbr1 A G 5: 29,440,053 (GRCm39) L410P probably damaging Het
Lrrc37a T C 11: 103,395,090 (GRCm39) R112G probably benign Het
Mrgpra6 T C 7: 46,835,681 (GRCm39) T247A probably benign Het
Mroh4 A G 15: 74,483,207 (GRCm39) probably benign Het
Mycbpap T C 11: 94,394,293 (GRCm39) probably null Het
Myoz2 T A 3: 122,827,881 (GRCm39) K12N probably damaging Het
Odad2 T C 18: 7,268,491 (GRCm39) S343G probably benign Het
Or1d2 T C 11: 74,256,359 (GRCm39) I288T possibly damaging Het
P3h1 T G 4: 119,093,980 (GRCm39) F212V probably damaging Het
Pcnx2 T C 8: 126,614,656 (GRCm39) D265G probably damaging Het
Pkd1l3 C T 8: 110,361,934 (GRCm39) T992I possibly damaging Het
Prss58 T C 6: 40,874,244 (GRCm39) D144G probably damaging Het
Pth2 T A 7: 44,830,764 (GRCm39) L29Q possibly damaging Het
Rab1b A C 19: 5,154,962 (GRCm39) probably benign Het
Rasa2 A T 9: 96,464,834 (GRCm39) C190* probably null Het
Scn9a T C 2: 66,317,986 (GRCm39) K1501E possibly damaging Het
Selenoi A G 5: 30,462,821 (GRCm39) probably benign Het
Slc11a2 T C 15: 100,286,999 (GRCm39) N558S probably benign Het
Sox10 T C 15: 79,040,539 (GRCm39) I173V probably benign Het
Sra1 A C 18: 36,804,526 (GRCm39) F476C probably damaging Het
Tmem119 T A 5: 113,933,409 (GRCm39) K131* probably null Het
Trim12c T A 7: 103,994,261 (GRCm39) K198* probably null Het
Ttn A G 2: 76,681,904 (GRCm39) probably benign Het
Unc119b C T 5: 115,265,371 (GRCm39) V154I probably benign Het
Usp47 T A 7: 111,654,069 (GRCm39) S108R probably damaging Het
Vmn1r15 T A 6: 57,235,547 (GRCm39) C138* probably null Het
Vmn1r191 T C 13: 22,363,614 (GRCm39) I47V probably benign Het
Wnt3 C T 11: 103,703,204 (GRCm39) A229V probably benign Het
Other mutations in Cacna2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Cacna2d1 APN 5 16,417,942 (GRCm39) missense probably damaging 1.00
IGL00470:Cacna2d1 APN 5 16,451,654 (GRCm39) splice site probably benign
IGL00495:Cacna2d1 APN 5 16,575,607 (GRCm39) missense probably benign 0.05
IGL00538:Cacna2d1 APN 5 16,451,783 (GRCm39) nonsense probably null
IGL00990:Cacna2d1 APN 5 16,140,067 (GRCm39) missense probably benign 0.23
IGL01079:Cacna2d1 APN 5 16,575,646 (GRCm39) missense probably benign 0.03
IGL01344:Cacna2d1 APN 5 16,575,629 (GRCm39) missense probably benign 0.26
IGL01597:Cacna2d1 APN 5 16,531,390 (GRCm39) splice site probably benign
IGL01959:Cacna2d1 APN 5 16,417,895 (GRCm39) missense probably benign 0.00
IGL02397:Cacna2d1 APN 5 16,525,162 (GRCm39) splice site probably benign
IGL03152:Cacna2d1 APN 5 16,527,566 (GRCm39) missense probably benign 0.00
IGL03216:Cacna2d1 APN 5 16,558,840 (GRCm39) missense probably damaging 0.98
IGL03374:Cacna2d1 APN 5 16,561,821 (GRCm39) missense probably damaging 0.99
PIT4283001:Cacna2d1 UTSW 5 16,507,292 (GRCm39) missense probably benign 0.31
PIT4585001:Cacna2d1 UTSW 5 16,531,342 (GRCm39) missense probably damaging 1.00
R0158:Cacna2d1 UTSW 5 16,566,815 (GRCm39) splice site probably benign
R0457:Cacna2d1 UTSW 5 16,472,414 (GRCm39) missense probably damaging 1.00
R0477:Cacna2d1 UTSW 5 16,399,796 (GRCm39) critical splice donor site probably null
R0483:Cacna2d1 UTSW 5 16,564,025 (GRCm39) missense probably damaging 0.98
R0532:Cacna2d1 UTSW 5 16,567,271 (GRCm39) missense probably benign 0.13
R0552:Cacna2d1 UTSW 5 16,533,041 (GRCm39) missense probably damaging 1.00
R0924:Cacna2d1 UTSW 5 16,570,860 (GRCm39) missense possibly damaging 0.79
R0930:Cacna2d1 UTSW 5 16,570,860 (GRCm39) missense possibly damaging 0.79
R1144:Cacna2d1 UTSW 5 16,527,595 (GRCm39) critical splice donor site probably null
R1164:Cacna2d1 UTSW 5 16,566,874 (GRCm39) critical splice donor site probably null
R1398:Cacna2d1 UTSW 5 16,562,764 (GRCm39) missense possibly damaging 0.47
R1440:Cacna2d1 UTSW 5 16,560,493 (GRCm39) missense probably damaging 1.00
R1543:Cacna2d1 UTSW 5 16,471,716 (GRCm39) missense possibly damaging 0.62
R1573:Cacna2d1 UTSW 5 16,575,625 (GRCm39) missense probably damaging 1.00
R1633:Cacna2d1 UTSW 5 16,525,114 (GRCm39) missense probably damaging 1.00
R1673:Cacna2d1 UTSW 5 16,504,988 (GRCm39) missense probably damaging 1.00
R1750:Cacna2d1 UTSW 5 16,469,286 (GRCm39) missense probably benign 0.01
R1753:Cacna2d1 UTSW 5 16,507,352 (GRCm39) missense possibly damaging 0.95
R1966:Cacna2d1 UTSW 5 16,538,783 (GRCm39) nonsense probably null
R2163:Cacna2d1 UTSW 5 16,567,317 (GRCm39) missense probably damaging 1.00
R2258:Cacna2d1 UTSW 5 16,562,287 (GRCm39) missense probably damaging 1.00
R2870:Cacna2d1 UTSW 5 16,517,566 (GRCm39) missense probably damaging 1.00
R2870:Cacna2d1 UTSW 5 16,517,566 (GRCm39) missense probably damaging 1.00
R4303:Cacna2d1 UTSW 5 16,507,246 (GRCm39) splice site probably null
R4804:Cacna2d1 UTSW 5 16,564,206 (GRCm39) missense probably damaging 0.97
R5032:Cacna2d1 UTSW 5 16,564,068 (GRCm39) missense probably damaging 1.00
R5080:Cacna2d1 UTSW 5 16,567,394 (GRCm39) critical splice donor site probably null
R5466:Cacna2d1 UTSW 5 16,451,712 (GRCm39) missense probably damaging 1.00
R5469:Cacna2d1 UTSW 5 16,557,676 (GRCm39) missense probably damaging 0.99
R5564:Cacna2d1 UTSW 5 16,517,517 (GRCm39) missense probably damaging 1.00
R5655:Cacna2d1 UTSW 5 16,507,333 (GRCm39) missense probably damaging 1.00
R5688:Cacna2d1 UTSW 5 16,563,950 (GRCm39) missense probably damaging 0.99
R5729:Cacna2d1 UTSW 5 16,140,037 (GRCm39) nonsense probably null
R6005:Cacna2d1 UTSW 5 16,566,819 (GRCm39) missense probably damaging 1.00
R6343:Cacna2d1 UTSW 5 16,527,562 (GRCm39) missense probably benign 0.09
R6485:Cacna2d1 UTSW 5 16,559,655 (GRCm39) missense probably damaging 1.00
R6486:Cacna2d1 UTSW 5 16,524,448 (GRCm39) splice site probably null
R6625:Cacna2d1 UTSW 5 16,567,391 (GRCm39) missense probably null 1.00
R6700:Cacna2d1 UTSW 5 16,570,458 (GRCm39) missense probably damaging 1.00
R6706:Cacna2d1 UTSW 5 16,531,338 (GRCm39) missense probably damaging 1.00
R6711:Cacna2d1 UTSW 5 16,505,039 (GRCm39) missense probably damaging 1.00
R7025:Cacna2d1 UTSW 5 16,557,666 (GRCm39) nonsense probably null
R7035:Cacna2d1 UTSW 5 16,451,670 (GRCm39) missense probably damaging 1.00
R7086:Cacna2d1 UTSW 5 16,554,414 (GRCm39) missense probably damaging 1.00
R7110:Cacna2d1 UTSW 5 16,562,782 (GRCm39) missense probably damaging 0.99
R7268:Cacna2d1 UTSW 5 16,575,586 (GRCm39) missense probably damaging 0.99
R7310:Cacna2d1 UTSW 5 16,519,914 (GRCm39) missense probably damaging 1.00
R7471:Cacna2d1 UTSW 5 16,139,973 (GRCm39) start gained probably benign
R7608:Cacna2d1 UTSW 5 16,564,022 (GRCm39) missense probably damaging 1.00
R7712:Cacna2d1 UTSW 5 16,567,347 (GRCm39) missense probably damaging 0.98
R8014:Cacna2d1 UTSW 5 16,547,689 (GRCm39) missense possibly damaging 0.55
R8161:Cacna2d1 UTSW 5 16,519,935 (GRCm39) missense probably damaging 1.00
R8669:Cacna2d1 UTSW 5 16,140,013 (GRCm39) start codon destroyed probably null 0.53
R8670:Cacna2d1 UTSW 5 16,140,013 (GRCm39) start codon destroyed probably null 0.53
R8682:Cacna2d1 UTSW 5 16,558,837 (GRCm39) missense possibly damaging 0.95
R8697:Cacna2d1 UTSW 5 16,570,865 (GRCm39) missense possibly damaging 0.89
R8807:Cacna2d1 UTSW 5 16,472,452 (GRCm39) missense probably damaging 1.00
R8834:Cacna2d1 UTSW 5 16,471,735 (GRCm39) missense possibly damaging 0.79
R9135:Cacna2d1 UTSW 5 16,558,850 (GRCm39) missense probably damaging 1.00
R9158:Cacna2d1 UTSW 5 16,140,039 (GRCm39) missense probably benign
R9169:Cacna2d1 UTSW 5 16,451,757 (GRCm39) missense probably damaging 1.00
R9294:Cacna2d1 UTSW 5 16,217,396 (GRCm39) missense probably damaging 0.97
R9296:Cacna2d1 UTSW 5 16,564,068 (GRCm39) missense probably damaging 1.00
R9393:Cacna2d1 UTSW 5 16,140,013 (GRCm39) start codon destroyed probably null 0.53
R9394:Cacna2d1 UTSW 5 16,140,013 (GRCm39) start codon destroyed probably null 0.53
R9395:Cacna2d1 UTSW 5 16,140,013 (GRCm39) start codon destroyed probably null 0.53
R9484:Cacna2d1 UTSW 5 16,561,831 (GRCm39) missense probably damaging 1.00
RF024:Cacna2d1 UTSW 5 16,230,774 (GRCm39) missense possibly damaging 0.80
Z1088:Cacna2d1 UTSW 5 16,399,761 (GRCm39) missense probably benign 0.02
Posted On 2014-01-21