Incidental Mutation 'R5729:Cacna2d1'
ID 452647
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 043346-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.346) question?
Stock # R5729 (G1)
Quality Score 222
Status Not validated
Chromosome 5
Chromosomal Location 16139689-16579509 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 16140037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 9 (L9*)
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
AA Change: L9*
SMART Domains Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: L9*

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: L9*
SMART Domains Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: L9*

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: L9*
SMART Domains Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: L9*

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: L9*
SMART Domains Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: L9*

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: L9*
SMART Domains Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: L9*

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: L9*
SMART Domains Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: L9*

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: L9*
SMART Domains Protein: ENSMUSP00000143082
Gene: ENSMUSG00000040118
AA Change: L9*

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000199704
AA Change: L9*
SMART Domains Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: L9*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180447
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (62/64)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 A T 1: 177,623,824 (GRCm39) V46E possibly damaging Het
Aldoart2 T C 12: 55,612,690 (GRCm39) V205A probably benign Het
Atp1a2 A G 1: 172,120,938 (GRCm39) S45P probably damaging Het
Atp4a A G 7: 30,411,851 (GRCm39) K29E possibly damaging Het
AU040320 T A 4: 126,724,208 (GRCm39) D428E probably damaging Het
Bend7 T C 2: 4,768,085 (GRCm39) L347P probably damaging Het
Ccdc103 A T 11: 102,773,904 (GRCm39) I50F probably damaging Het
Cdc5l T C 17: 45,737,495 (GRCm39) I88V probably benign Het
Cracr2a T C 6: 127,584,199 (GRCm39) V86A possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dgkd C T 1: 87,864,054 (GRCm39) Q90* probably null Het
Dnajc21 A T 15: 10,449,682 (GRCm39) D446E probably benign Het
Fam13a T G 6: 58,916,292 (GRCm39) R648S probably damaging Het
Gabrg2 A G 11: 41,858,450 (GRCm39) V226A probably damaging Het
Gm5499 A T 17: 87,385,944 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Irf2bp1 G T 7: 18,739,172 (GRCm39) E271* probably null Het
Krt86 T G 15: 101,374,429 (GRCm39) V274G probably benign Het
Lats2 A T 14: 57,960,192 (GRCm39) C151S probably benign Het
Mapk3 A T 7: 126,363,979 (GRCm39) T254S probably benign Het
Mat2b A T 11: 40,573,373 (GRCm39) M202K probably damaging Het
Mos A G 4: 3,870,971 (GRCm39) Y282H probably benign Het
Myo3b A G 2: 69,936,083 (GRCm39) K108R probably damaging Het
Naa16 A G 14: 79,593,220 (GRCm39) Y417H probably damaging Het
Oat A T 7: 132,159,984 (GRCm39) I412N probably damaging Het
Or4d11 A T 19: 12,013,272 (GRCm39) I278N probably damaging Het
Pcdh1 A T 18: 38,335,999 (GRCm39) V73D probably damaging Het
Pigv A T 4: 133,392,134 (GRCm39) Y345* probably null Het
Pitpnc1 G T 11: 107,228,264 (GRCm39) F34L probably benign Het
Plxnd1 A G 6: 115,942,838 (GRCm39) L1282P probably damaging Het
Ppp1r3a T C 6: 14,719,762 (GRCm39) D384G probably benign Het
Ppp2ca G A 11: 52,008,856 (GRCm39) E119K probably damaging Het
Psg29 A T 7: 16,944,459 (GRCm39) N323I probably damaging Het
Rasa4 T C 5: 136,122,016 (GRCm39) V108A probably benign Het
Rbm14 A G 19: 4,852,577 (GRCm39) probably benign Het
Rfc1 A T 5: 65,434,795 (GRCm39) V657E probably damaging Het
Rhcg A T 7: 79,250,371 (GRCm39) N237K probably damaging Het
Rpgrip1 A G 14: 52,397,617 (GRCm39) Q1302R probably benign Het
Rragc A G 4: 123,818,645 (GRCm39) M287V possibly damaging Het
Scn7a A G 2: 66,572,301 (GRCm39) probably null Het
Sema6a C T 18: 47,414,410 (GRCm39) C506Y probably damaging Het
Senp1 G T 15: 97,964,412 (GRCm39) H267Q possibly damaging Het
Skor2 A G 18: 76,946,578 (GRCm39) E100G unknown Het
Slc38a11 A T 2: 65,147,365 (GRCm39) C371S probably benign Het
Snai3 G A 8: 123,181,629 (GRCm39) A276V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Spag6 C T 2: 18,720,525 (GRCm39) T99I probably benign Het
Spop A G 11: 95,376,675 (GRCm39) I243V possibly damaging Het
Sra1 A T 18: 36,800,496 (GRCm39) probably benign Het
Stag3 T A 5: 138,288,485 (GRCm39) S140T possibly damaging Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tbc1d2b G C 9: 90,089,925 (GRCm39) A868G probably benign Het
Tead2 A G 7: 44,870,166 (GRCm39) probably benign Het
Tmem53 C A 4: 117,125,669 (GRCm39) H261N probably damaging Het
Ube4a A T 9: 44,844,627 (GRCm39) S932T probably damaging Het
Usp9y A T Y: 1,381,339 (GRCm39) D827E probably damaging Het
Vmn2r53 T C 7: 12,334,733 (GRCm39) E309G probably damaging Het
Wrn T C 8: 33,758,806 (GRCm39) S1026G probably benign Het
Zfp646 G A 7: 127,484,626 (GRCm39) A1760T probably 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
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
Predicted Primers PCR Primer
(F):5'- TTCCACAGTCGCCCTTGATG -3'
(R):5'- ACAGTCTTCAGCTTGCAGC -3'

Sequencing Primer
(F):5'- ACGCGCTAGAGAGTCCG -3'
(R):5'- TTGCAGCATCCTCGGAGAC -3'
Posted On 2017-01-03