Incidental Mutation 'R7471:Cacna2d1'
ID 579186
Institutional Source Beutler Lab
Gene Symbol Cacna2d1
Ensembl Gene ENSMUSG00000040118
Gene Name calcium channel, voltage-dependent, alpha2/delta subunit 1
Synonyms Cchl2a, Cacna2, Ca(v)alpha2delta1
MMRRC Submission 045545-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.302) question?
Stock # R7471 (G1)
Quality Score 80.0075
Status Validated
Chromosome 5
Chromosomal Location 16139689-16579509 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to G at 16139973 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 benign
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 benign
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 benign
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 benign
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 benign
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 benign
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 benign
Transcript: ENSMUST00000196750
SMART Domains Protein: ENSMUSP00000143082
Gene: ENSMUSG00000040118

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Predicted Effect probably benign
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (73/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,168,608 (GRCm39) probably null Het
Ace T C 11: 105,864,308 (GRCm39) V483A probably damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Angptl2 A T 2: 33,133,751 (GRCm39) T358S possibly damaging Het
Apoh C T 11: 108,298,131 (GRCm39) P144S probably damaging Het
Arid1a A G 4: 133,408,355 (GRCm39) W1666R unknown Het
Asap3 A G 4: 135,960,957 (GRCm39) H223R possibly damaging Het
Bcl2l12 A G 7: 44,645,977 (GRCm39) S81P possibly damaging Het
Brd10 A C 19: 29,707,139 (GRCm39) probably null Het
C8a A G 4: 104,674,822 (GRCm39) S550P probably benign Het
Ccdc170 A G 10: 4,470,803 (GRCm39) T216A probably benign Het
Chd7 A T 4: 8,859,197 (GRCm39) K2429I probably damaging Het
Chd8 T C 14: 52,441,569 (GRCm39) N2181S probably benign Het
Cimap1c C T 9: 56,759,783 (GRCm39) probably null Het
Clip3 T C 7: 30,001,377 (GRCm39) V342A possibly damaging Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Cyp20a1 T C 1: 60,393,799 (GRCm39) F139S probably damaging Het
Dclre1b T A 3: 103,710,430 (GRCm39) R494W probably benign Het
Dicer1 A G 12: 104,660,969 (GRCm39) I1695T probably damaging Het
Dnah7a A G 1: 53,458,858 (GRCm39) L3760P probably damaging Het
Dock1 A G 7: 134,765,072 (GRCm39) D1688G possibly damaging Het
Drosha G A 15: 12,889,742 (GRCm39) R870Q probably damaging Het
Dsg2 G T 18: 20,713,675 (GRCm39) M215I probably benign Het
Dst A T 1: 34,233,651 (GRCm39) D3453V possibly damaging Het
Epha10 A T 4: 124,796,365 (GRCm39) Y358F Het
Ermp1 A T 19: 29,590,054 (GRCm39) M853K probably benign Het
Hace1 T G 10: 45,577,075 (GRCm39) I823S probably benign Het
Hectd3 A T 4: 116,853,785 (GRCm39) Y227F probably benign Het
Hells A G 19: 38,945,501 (GRCm39) N580S probably benign Het
Igkv12-44 A G 6: 69,791,718 (GRCm39) F82L probably damaging Het
Inpp5d A G 1: 87,623,122 (GRCm39) D405G probably damaging Het
Itsn2 G A 12: 4,758,198 (GRCm39) R1508H probably benign Het
Limk1 A T 5: 134,686,825 (GRCm39) probably null Het
Lingo1 T A 9: 56,528,167 (GRCm39) K147* probably null Het
Ltn1 T C 16: 87,194,787 (GRCm39) S1371G probably benign Het
Mab21l1 A G 3: 55,691,307 (GRCm39) D298G possibly damaging Het
Macf1 A T 4: 123,366,082 (GRCm39) V2893E probably benign Het
Mapk8ip1 T C 2: 92,219,489 (GRCm39) D114G probably benign Het
Med15 A T 16: 17,540,729 (GRCm39) W6R probably benign Het
Mrps34 T C 17: 25,114,431 (GRCm39) L97P probably damaging Het
Myrfl A T 10: 116,697,417 (GRCm39) F36I possibly damaging Het
Nifk G A 1: 118,260,204 (GRCm39) S253N probably damaging Het
Nmnat1 T A 4: 149,557,758 (GRCm39) T95S probably damaging Het
Oasl1 T A 5: 115,073,985 (GRCm39) I298N probably damaging Het
Or51a8 A G 7: 102,549,760 (GRCm39) Y62C probably benign Het
Or56b35 T G 7: 104,963,712 (GRCm39) L167R probably damaging Het
Or8g37 A T 9: 39,731,423 (GRCm39) M163L probably benign Het
Polr2b C T 5: 77,468,913 (GRCm39) R230* probably null Het
Prkra T A 2: 76,477,545 (GRCm39) E53D probably benign Het
Rasgrp4 T A 7: 28,845,405 (GRCm39) L376Q probably damaging Het
Rwdd3 A G 3: 120,964,961 (GRCm39) S65P probably benign Het
Satb1 G A 17: 52,090,029 (GRCm39) P273S probably damaging Het
Scg3 T C 9: 75,589,374 (GRCm39) E93G probably damaging Het
Sf3a1 T C 11: 4,117,724 (GRCm39) F162S possibly damaging Het
Sorcs1 A G 19: 50,250,701 (GRCm39) Y377H probably damaging Het
Sptbn4 G A 7: 27,108,439 (GRCm39) A661V possibly damaging Het
Stk36 A G 1: 74,673,479 (GRCm39) N996S unknown Het
Tbca A T 13: 94,968,923 (GRCm39) I37F probably damaging Het
Tc2n A T 12: 101,672,716 (GRCm39) V75E probably damaging Het
Tdrkh A T 3: 94,333,263 (GRCm39) S243C probably damaging Het
Tjp1 T C 7: 64,964,438 (GRCm39) D911G probably damaging Het
Tmbim6 A G 15: 99,299,324 (GRCm39) probably benign Het
Tob1 T A 11: 94,104,708 (GRCm39) D81E probably benign Het
Ttpal T A 2: 163,448,945 (GRCm39) probably null Het
Usp37 A T 1: 74,534,787 (GRCm39) probably null Het
Vmn1r235 A G 17: 21,482,658 (GRCm39) I328V probably benign Het
Vmn1r28 T A 6: 58,242,850 (GRCm39) L231* probably null Het
Xirp1 G A 9: 119,848,176 (GRCm39) Q236* probably null Het
Zc3h7b A G 15: 81,664,682 (GRCm39) T514A probably damaging Het
Zfp524 A G 7: 5,021,200 (GRCm39) I243V probably benign Het
Zfp655 T A 5: 145,181,542 (GRCm39) Y467N possibly damaging Het
Zfp985 A T 4: 147,667,388 (GRCm39) K85N possibly damaging 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
IGL01645:Cacna2d1 APN 5 16,217,389 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TTCCACAGTCGCCCTTGATG -3'
(R):5'- TACAGTCTTCAGCTTGCAGC -3'

Sequencing Primer
(F):5'- CTTGATGGCGGCGCAGG -3'
(R):5'- TTGCAGCATCCTCGGAGAC -3'
Posted On 2019-10-07