Incidental Mutation 'IGL02125:Cacna2d2'
ID 280816
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacna2d2
Ensembl Gene ENSMUSG00000010066
Gene Name calcium channel, voltage-dependent, alpha 2/delta subunit 2
Synonyms a2d2
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # IGL02125
Quality Score
Status
Chromosome 9
Chromosomal Location 107276948-107406545 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 107391103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 411 (Q411*)
Ref Sequence ENSEMBL: ENSMUSP00000125943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010210] [ENSMUST00000085092] [ENSMUST00000164988] [ENSMUST00000166799] [ENSMUST00000168532] [ENSMUST00000170737]
AlphaFold Q6PHS9
Predicted Effect probably null
Transcript: ENSMUST00000010210
AA Change: Q411*
SMART Domains Protein: ENSMUSP00000010210
Gene: ENSMUSG00000010066
AA Change: Q411*

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
low complexity region 43 57 N/A INTRINSIC
Pfam:VWA_N 144 268 2e-48 PFAM
VWA 292 467 4.93e-22 SMART
Pfam:Cache_1 488 577 9.9e-32 PFAM
Pfam:VGCC_alpha2 583 673 1.8e-33 PFAM
low complexity region 968 977 N/A INTRINSIC
low complexity region 1114 1137 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000085092
AA Change: Q411*
SMART Domains Protein: ENSMUSP00000082173
Gene: ENSMUSG00000010066
AA Change: Q411*

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
low complexity region 43 57 N/A INTRINSIC
Pfam:VWA_N 144 268 2e-48 PFAM
VWA 292 467 4.93e-22 SMART
Pfam:Cache_1 488 577 1e-31 PFAM
Pfam:VGCC_alpha2 583 676 5.8e-35 PFAM
low complexity region 974 983 N/A INTRINSIC
low complexity region 1120 1143 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000164988
AA Change: Q411*
SMART Domains Protein: ENSMUSP00000130451
Gene: ENSMUSG00000010066
AA Change: Q411*

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
low complexity region 43 57 N/A INTRINSIC
Pfam:VWA_N 144 268 6.7e-49 PFAM
VWA 292 467 4.93e-22 SMART
Pfam:Cache_1 488 577 2.4e-31 PFAM
Pfam:VGCC_alpha2 583 675 2.5e-34 PFAM
low complexity region 974 983 N/A INTRINSIC
low complexity region 1123 1146 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000166799
AA Change: Q411*
SMART Domains Protein: ENSMUSP00000126029
Gene: ENSMUSG00000010066
AA Change: Q411*

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
low complexity region 43 57 N/A INTRINSIC
Pfam:VWA_N 144 268 8.5e-44 PFAM
VWA 292 467 4.93e-22 SMART
Pfam:Cache_1 488 576 1.3e-32 PFAM
Pfam:VGCC_alpha2 583 675 1.4e-47 PFAM
low complexity region 975 984 N/A INTRINSIC
low complexity region 1123 1146 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000168532
AA Change: Q411*
SMART Domains Protein: ENSMUSP00000132512
Gene: ENSMUSG00000010066
AA Change: Q411*

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
low complexity region 43 57 N/A INTRINSIC
Pfam:VWA_N 144 268 2.1e-48 PFAM
VWA 292 467 4.93e-22 SMART
Pfam:Cache_1 488 577 1e-31 PFAM
Pfam:VGCC_alpha2 583 676 5.8e-35 PFAM
low complexity region 974 983 N/A INTRINSIC
low complexity region 1122 1145 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169354
Predicted Effect probably null
Transcript: ENSMUST00000170737
AA Change: Q411*
SMART Domains Protein: ENSMUSP00000125943
Gene: ENSMUSG00000010066
AA Change: Q411*

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
low complexity region 43 57 N/A INTRINSIC
Pfam:VWA_N 144 268 2e-48 PFAM
VWA 292 467 4.93e-22 SMART
Pfam:Cache_1 488 577 1e-31 PFAM
Pfam:VGCC_alpha2 583 673 1.9e-33 PFAM
low complexity region 968 977 N/A INTRINSIC
low complexity region 1116 1139 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171809
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygotes for different mutant alleles show variable movement abnormalities including waddling, reeling or very slow gait, ataxia, and mild spike-wave seizures. While gross CNS abnormalities and demyelination are present in some mutant lines, they are not observed in others. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A T 8: 56,324,974 (GRCm39) C493* probably null Het
Aldh16a1 G A 7: 44,795,459 (GRCm39) P400L probably damaging Het
Ankrd12 A G 17: 66,277,139 (GRCm39) probably benign Het
Anxa5 G A 3: 36,506,413 (GRCm39) T213I probably damaging Het
Baz2b A G 2: 59,798,984 (GRCm39) L380S probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cdh19 A G 1: 110,857,614 (GRCm39) V240A possibly damaging Het
Cltc A T 11: 86,595,636 (GRCm39) probably benign Het
Dclk3 T A 9: 111,298,175 (GRCm39) V573E probably damaging Het
Dhx29 T C 13: 113,091,834 (GRCm39) probably benign Het
Dip2b T C 15: 100,084,131 (GRCm39) L918P possibly damaging Het
Dzip3 A T 16: 48,747,959 (GRCm39) N1150K probably damaging Het
Fgf5 T C 5: 98,402,391 (GRCm39) S41P possibly damaging Het
Galc A T 12: 98,197,768 (GRCm39) Y120N probably damaging Het
Gldc T C 19: 30,124,641 (GRCm39) N219S probably benign Het
Gm11563 A T 11: 99,549,631 (GRCm39) V41E unknown Het
Gpatch11 T A 17: 79,147,538 (GRCm39) N106K probably benign Het
Gpx3 A G 11: 54,798,068 (GRCm39) N68S probably damaging Het
Ibtk T C 9: 85,617,123 (GRCm39) N150D probably damaging Het
Iglc2 G A 16: 19,017,462 (GRCm39) P48S probably benign Het
Itih5 G A 2: 10,245,798 (GRCm39) R629H probably benign Het
Kank1 T A 19: 25,388,067 (GRCm39) V552E possibly damaging Het
Kmt2a T A 9: 44,759,983 (GRCm39) H655L probably damaging Het
Mme A T 3: 63,256,070 (GRCm39) N510I probably damaging Het
Mrtfb A G 16: 13,218,047 (GRCm39) probably null Het
Obscn G T 11: 58,984,152 (GRCm39) Q1768K possibly damaging Het
Obscn A G 11: 58,913,188 (GRCm39) I6943T probably damaging Het
Or51k2 T A 7: 103,596,279 (GRCm39) C169S probably damaging Het
Or5ac25 T C 16: 59,181,879 (GRCm39) N234S probably benign Het
Otud3 A T 4: 138,624,025 (GRCm39) probably null Het
Parp4 A G 14: 56,827,959 (GRCm39) K237E probably benign Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Pttg1ip2 T C 5: 5,500,644 (GRCm39) *151W probably null Het
Rbbp6 T C 7: 122,570,352 (GRCm39) probably null Het
Rdh16 G T 10: 127,647,188 (GRCm39) probably benign Het
Ropn1 A G 16: 34,487,147 (GRCm39) T28A probably benign Het
Sec24d T C 3: 123,152,607 (GRCm39) V873A probably damaging Het
Serpinb3b T A 1: 107,082,474 (GRCm39) L263F probably damaging Het
Shq1 T C 6: 100,607,967 (GRCm39) T315A probably benign Het
Slc13a4 T C 6: 35,255,223 (GRCm39) E355G probably benign Het
Slc26a9 T C 1: 131,687,175 (GRCm39) S445P probably damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Slc4a10 A T 2: 62,098,515 (GRCm39) M550L probably benign Het
Spata31e5 T C 1: 28,815,419 (GRCm39) N871S possibly damaging Het
Syt17 T C 7: 118,009,197 (GRCm39) D341G probably benign Het
Tmem62 A G 2: 120,826,993 (GRCm39) Y430C probably benign Het
Upp1 A G 11: 9,075,650 (GRCm39) probably benign Het
Vmn1r91 T G 7: 19,835,429 (GRCm39) V116G probably damaging Het
Vmn2r101 A T 17: 19,809,963 (GRCm39) I250F possibly damaging Het
Vmn2r116 T G 17: 23,616,601 (GRCm39) probably benign Het
Vmn2r72 C T 7: 85,399,919 (GRCm39) V377I probably benign Het
Zfp592 G T 7: 80,687,932 (GRCm39) A953S probably benign Het
Other mutations in Cacna2d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Cacna2d2 APN 9 107,392,072 (GRCm39) missense probably damaging 1.00
IGL00425:Cacna2d2 APN 9 107,404,550 (GRCm39) missense probably damaging 1.00
IGL01294:Cacna2d2 APN 9 107,391,280 (GRCm39) missense probably damaging 1.00
IGL01969:Cacna2d2 APN 9 107,386,415 (GRCm39) missense probably benign
IGL01974:Cacna2d2 APN 9 107,394,621 (GRCm39) missense probably benign 0.00
IGL02001:Cacna2d2 APN 9 107,399,315 (GRCm39) missense probably benign
IGL02143:Cacna2d2 APN 9 107,395,474 (GRCm39) splice site probably null
IGL02150:Cacna2d2 APN 9 107,404,515 (GRCm39) splice site probably benign
IGL02213:Cacna2d2 APN 9 107,391,247 (GRCm39) missense probably damaging 1.00
IGL02220:Cacna2d2 APN 9 107,392,078 (GRCm39) missense probably damaging 1.00
IGL02238:Cacna2d2 APN 9 107,390,757 (GRCm39) missense probably damaging 0.99
IGL02466:Cacna2d2 APN 9 107,342,753 (GRCm39) missense probably damaging 1.00
IGL02569:Cacna2d2 APN 9 107,391,245 (GRCm39) missense probably damaging 0.99
IGL02571:Cacna2d2 APN 9 107,402,845 (GRCm39) missense possibly damaging 0.93
IGL02825:Cacna2d2 APN 9 107,401,659 (GRCm39) missense probably damaging 1.00
IGL03000:Cacna2d2 APN 9 107,401,397 (GRCm39) splice site probably null
IGL03064:Cacna2d2 APN 9 107,386,474 (GRCm39) missense probably damaging 1.00
Blow UTSW 9 107,390,805 (GRCm39) missense probably null 0.90
dilemma UTSW 9 107,392,063 (GRCm39) missense probably damaging 1.00
hera UTSW 9 107,390,479 (GRCm39) missense probably damaging 1.00
Ionian UTSW 9 107,402,575 (GRCm39) missense probably benign 0.05
Solomonic UTSW 9 107,401,861 (GRCm39) missense possibly damaging 0.94
PIT4131001:Cacna2d2 UTSW 9 107,401,867 (GRCm39) missense probably damaging 1.00
R0233:Cacna2d2 UTSW 9 107,391,869 (GRCm39) missense probably damaging 0.96
R0233:Cacna2d2 UTSW 9 107,391,869 (GRCm39) missense probably damaging 0.96
R0387:Cacna2d2 UTSW 9 107,391,080 (GRCm39) missense probably damaging 1.00
R0410:Cacna2d2 UTSW 9 107,401,819 (GRCm39) missense probably damaging 1.00
R0538:Cacna2d2 UTSW 9 107,401,582 (GRCm39) splice site probably benign
R0545:Cacna2d2 UTSW 9 107,402,422 (GRCm39) missense probably damaging 1.00
R0729:Cacna2d2 UTSW 9 107,394,456 (GRCm39) missense probably benign 0.06
R1024:Cacna2d2 UTSW 9 107,404,249 (GRCm39) critical splice donor site probably null
R1538:Cacna2d2 UTSW 9 107,394,615 (GRCm39) missense probably damaging 1.00
R1750:Cacna2d2 UTSW 9 107,401,843 (GRCm39) missense probably damaging 1.00
R1774:Cacna2d2 UTSW 9 107,403,350 (GRCm39) missense probably benign 0.19
R1800:Cacna2d2 UTSW 9 107,404,632 (GRCm39) missense possibly damaging 0.46
R1873:Cacna2d2 UTSW 9 107,391,071 (GRCm39) missense probably damaging 0.98
R1935:Cacna2d2 UTSW 9 107,386,455 (GRCm39) missense probably damaging 1.00
R1936:Cacna2d2 UTSW 9 107,386,455 (GRCm39) missense probably damaging 1.00
R1971:Cacna2d2 UTSW 9 107,389,205 (GRCm39) missense probably damaging 0.98
R2095:Cacna2d2 UTSW 9 107,404,364 (GRCm39) missense probably benign 0.05
R2135:Cacna2d2 UTSW 9 107,403,712 (GRCm39) missense possibly damaging 0.74
R2197:Cacna2d2 UTSW 9 107,404,602 (GRCm39) missense probably damaging 0.97
R2266:Cacna2d2 UTSW 9 107,390,479 (GRCm39) missense probably damaging 1.00
R2483:Cacna2d2 UTSW 9 107,389,221 (GRCm39) missense probably damaging 1.00
R4021:Cacna2d2 UTSW 9 107,391,257 (GRCm39) missense probably damaging 1.00
R4392:Cacna2d2 UTSW 9 107,277,479 (GRCm39) missense possibly damaging 0.47
R4629:Cacna2d2 UTSW 9 107,404,521 (GRCm39) missense probably damaging 1.00
R5053:Cacna2d2 UTSW 9 107,392,063 (GRCm39) missense probably damaging 1.00
R5327:Cacna2d2 UTSW 9 107,390,805 (GRCm39) missense probably null 0.90
R5347:Cacna2d2 UTSW 9 107,391,313 (GRCm39) missense probably benign
R5719:Cacna2d2 UTSW 9 107,401,851 (GRCm39) missense probably benign 0.36
R5737:Cacna2d2 UTSW 9 107,403,946 (GRCm39) missense possibly damaging 0.70
R5739:Cacna2d2 UTSW 9 107,389,528 (GRCm39) missense probably benign 0.37
R6037:Cacna2d2 UTSW 9 107,390,738 (GRCm39) missense probably damaging 1.00
R6037:Cacna2d2 UTSW 9 107,390,738 (GRCm39) missense probably damaging 1.00
R6084:Cacna2d2 UTSW 9 107,374,720 (GRCm39) critical splice donor site probably null
R6170:Cacna2d2 UTSW 9 107,404,533 (GRCm39) missense probably damaging 1.00
R6254:Cacna2d2 UTSW 9 107,386,415 (GRCm39) missense probably benign
R6427:Cacna2d2 UTSW 9 107,392,641 (GRCm39) missense possibly damaging 0.67
R7652:Cacna2d2 UTSW 9 107,401,397 (GRCm39) splice site probably null
R7850:Cacna2d2 UTSW 9 107,402,575 (GRCm39) missense probably benign 0.05
R7936:Cacna2d2 UTSW 9 107,401,326 (GRCm39) missense probably damaging 1.00
R7978:Cacna2d2 UTSW 9 107,395,456 (GRCm39) missense probably benign 0.14
R8039:Cacna2d2 UTSW 9 107,404,632 (GRCm39) missense possibly damaging 0.92
R8165:Cacna2d2 UTSW 9 107,402,653 (GRCm39) splice site probably null
R8274:Cacna2d2 UTSW 9 107,401,861 (GRCm39) missense possibly damaging 0.94
R8286:Cacna2d2 UTSW 9 107,392,063 (GRCm39) missense probably damaging 1.00
R8354:Cacna2d2 UTSW 9 107,401,334 (GRCm39) missense possibly damaging 0.95
R8464:Cacna2d2 UTSW 9 107,389,206 (GRCm39) missense probably damaging 0.99
R8479:Cacna2d2 UTSW 9 107,403,596 (GRCm39) critical splice donor site probably null
R8765:Cacna2d2 UTSW 9 107,394,358 (GRCm39) missense probably damaging 1.00
R8848:Cacna2d2 UTSW 9 107,391,855 (GRCm39) missense possibly damaging 0.75
R9037:Cacna2d2 UTSW 9 107,386,395 (GRCm39) missense probably benign 0.08
R9225:Cacna2d2 UTSW 9 107,403,403 (GRCm39) missense probably benign 0.10
R9295:Cacna2d2 UTSW 9 107,386,419 (GRCm39) missense probably benign 0.02
R9372:Cacna2d2 UTSW 9 107,394,802 (GRCm39) missense probably benign 0.00
R9414:Cacna2d2 UTSW 9 107,392,395 (GRCm39) missense probably damaging 1.00
R9417:Cacna2d2 UTSW 9 107,392,689 (GRCm39) nonsense probably null
R9435:Cacna2d2 UTSW 9 107,396,384 (GRCm39) missense probably benign 0.01
R9584:Cacna2d2 UTSW 9 107,277,404 (GRCm39) missense probably damaging 0.97
R9642:Cacna2d2 UTSW 9 107,392,627 (GRCm39) missense possibly damaging 0.94
R9784:Cacna2d2 UTSW 9 107,404,346 (GRCm39) missense probably benign 0.00
Z1176:Cacna2d2 UTSW 9 107,403,301 (GRCm39) missense probably benign 0.14
Z1176:Cacna2d2 UTSW 9 107,394,492 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16