Incidental Mutation 'R9395:Cacna2d1'
ID 710778
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 068965-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R9395 (G1)
Quality Score 192.009
Status Not validated
Chromosome 5
Chromosomal Location 16139689-16579509 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 16140013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000049457 (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
AA Change: M1T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: M1T

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
AA Change: M1T

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: M1T

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
AA Change: M1T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: M1T

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
AA Change: M1T

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: M1T

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
AA Change: M1T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: M1T

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
AA Change: M1T

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: M1T

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
AA Change: M1T

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143082
Gene: ENSMUSG00000040118
AA Change: M1T

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000199704
AA Change: M1T

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: M1T

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: 98.8%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh7 A T 3: 137,927,477 (GRCm39) I8F probably damaging Het
Ak1 A G 2: 32,523,708 (GRCm39) D207G probably damaging Het
Arhgef28 TAA TA 13: 98,103,692 (GRCm39) probably null Het
Cgnl1 T C 9: 71,539,954 (GRCm39) M1097V probably benign Het
Chrm2 G A 6: 36,501,196 (GRCm39) G351D possibly damaging Het
Cntnap2 C A 6: 45,978,244 (GRCm39) R300S probably damaging Het
Cpa5 T C 6: 30,631,280 (GRCm39) L398P probably damaging Het
Csl T A 10: 99,595,020 (GRCm39) N15I probably damaging Het
Csrp3 A T 7: 48,489,231 (GRCm39) V17D probably damaging Het
Cyb5d1 T C 11: 69,284,531 (GRCm39) N207S probably benign Het
Ecel1 A T 1: 87,082,350 (GRCm39) I121N probably damaging Het
Elapor2 T C 5: 9,477,822 (GRCm39) S407P probably benign Het
Gad2 T C 2: 22,514,879 (GRCm39) L119P probably damaging Het
Gpr139 A T 7: 118,743,811 (GRCm39) M258K probably benign Het
Hhipl1 A G 12: 108,285,009 (GRCm39) Y454C probably damaging Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Lpl T A 8: 69,353,952 (GRCm39) I431N probably damaging Het
Myh14 A T 7: 44,274,584 (GRCm39) W1235R possibly damaging Het
Nacc2 A G 2: 25,950,128 (GRCm39) V536A probably damaging Het
Nalf2 C T X: 98,889,097 (GRCm39) R321W probably damaging Het
Neu4 T A 1: 93,950,218 (GRCm39) L59Q probably damaging Het
Obscn T A 11: 58,946,871 (GRCm39) I4088F probably damaging Het
Or8b37 T C 9: 37,959,136 (GRCm39) V206A probably damaging Het
Otof G A 5: 30,532,976 (GRCm39) R1589C probably damaging Het
Pla2g3 C T 11: 3,440,952 (GRCm39) Q306* probably null Het
Pramel12 A G 4: 143,145,605 (GRCm39) E358G probably benign Het
Prl6a1 A T 13: 27,499,400 (GRCm39) H56L possibly damaging Het
Rev3l T C 10: 39,735,219 (GRCm39) probably null Het
Rims2 T A 15: 39,155,664 (GRCm39) F115Y probably damaging Het
Spcs2 T C 7: 99,488,924 (GRCm39) T221A probably benign Het
Stmn1 C T 4: 134,200,146 (GRCm39) A73V probably damaging Het
Syne1 T A 10: 5,261,728 (GRCm39) K2250I probably damaging Het
Tcf7l2 C T 19: 55,920,200 (GRCm39) Q578* probably null Het
Tgtp2 A T 11: 48,950,083 (GRCm39) M163K probably benign Het
Ttn T C 2: 76,542,006 (GRCm39) N33660S probably benign Het
Txndc11 A G 16: 10,902,683 (GRCm39) F655L probably benign Het
Ubtf G A 11: 102,205,026 (GRCm39) T86I probably damaging Het
Vmn2r89 T A 14: 51,693,783 (GRCm39) W378R probably damaging Het
Zic1 T A 9: 91,247,070 (GRCm39) M1L 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
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
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
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'- CACGCGCTAGAGAGTCCG -3'
(R):5'- TTGCAGCATCCTCGGAGAC -3'
Posted On 2022-04-18