Incidental Mutation 'R6945:Cacna2d3'
ID 540854
Institutional Source Beutler Lab
Gene Symbol Cacna2d3
Ensembl Gene ENSMUSG00000021991
Gene Name calcium channel, voltage-dependent, alpha2/delta subunit 3
Synonyms alpha2delta3, alpha 2 delta-3
MMRRC Submission 045059-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6945 (G1)
Quality Score 143.008
Status Validated
Chromosome 14
Chromosomal Location 28904943-29721864 bp(-) (GRCm38)
Type of Mutation intron
DNA Base Change (assembly) G to A at 28969318 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022567] [ENSMUST00000225668] [ENSMUST00000225985]
AlphaFold Q9Z1L5
Predicted Effect probably benign
Transcript: ENSMUST00000022567
SMART Domains Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
Blast:WNT1 28 103 2e-33 BLAST
Pfam:VWA_N 113 229 6.8e-40 PFAM
VWA 254 439 4.13e-24 SMART
Pfam:Cache_1 452 548 3e-32 PFAM
low complexity region 1070 1088 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000225668
AA Change: H17Y
Predicted Effect unknown
Transcript: ENSMUST00000225985
AA Change: H17Y
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 96% (51/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have a decreased startle reflex and occasional animals show increased aggression and hyperactivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T A 16: 20,400,009 (GRCm38) T208S probably benign Het
Acaa2 A G 18: 74,793,309 (GRCm38) E112G probably benign Het
Adgrb1 A G 15: 74,550,024 (GRCm38) N881S probably damaging Het
Adgre1 A G 17: 57,420,399 (GRCm38) E443G probably benign Het
Adgre1 A G 17: 57,410,844 (GRCm38) E314G probably benign Het
Akp3 A G 1: 87,125,631 (GRCm38) Y102C probably damaging Het
Birc6 A G 17: 74,579,531 (GRCm38) N618S probably benign Het
Bpifc A G 10: 85,979,214 (GRCm38) V296A probably benign Het
Cacnb4 T C 2: 52,474,954 (GRCm38) N99S probably damaging Het
Cd38 A G 5: 43,908,006 (GRCm38) Y283C probably damaging Het
Celf4 T A 18: 25,496,236 (GRCm38) Q411L probably damaging Het
Cemip A T 7: 83,998,547 (GRCm38) H108Q probably damaging Het
Col23a1 A G 11: 51,561,893 (GRCm38) E225G unknown Het
Dnah11 T C 12: 118,060,310 (GRCm38) E1902G probably damaging Het
Dst A G 1: 34,190,490 (GRCm38) D2063G probably damaging Het
Fsip2 A T 2: 82,992,840 (GRCm38) I6306L probably benign Het
Furin A G 7: 80,391,090 (GRCm38) S667P possibly damaging Het
Glmp T A 3: 88,325,832 (GRCm38) S92R probably benign Het
Gm11563 C G 11: 99,658,472 (GRCm38) C152S unknown Het
Gm3486 A G 14: 41,484,561 (GRCm38) V185A probably benign Het
Gvin2 G A 7: 105,901,980 (GRCm38) Q622* probably null Het
Hyal1 C A 9: 107,579,170 (GRCm38) A102E probably damaging Het
Invs T C 4: 48,421,785 (GRCm38) C806R probably benign Het
L1td1 T C 4: 98,733,696 (GRCm38) V165A probably benign Het
Lama1 A G 17: 67,813,866 (GRCm38) T2666A Het
Lrit1 G C 14: 37,060,095 (GRCm38) V242L probably damaging Het
Lrrc8a A G 2: 30,256,227 (GRCm38) Y351C probably damaging Het
Myh7b T C 2: 155,622,232 (GRCm38) F551S possibly damaging Het
Myo19 A G 11: 84,897,560 (GRCm38) T333A probably benign Het
Nrp2 A T 1: 62,760,788 (GRCm38) N387I probably damaging Het
Oas2 T C 5: 120,736,139 (GRCm38) D543G probably benign Het
Or2g25 A G 17: 37,659,514 (GRCm38) I273T possibly damaging Het
Or5al6 A G 2: 86,146,084 (GRCm38) S217P probably damaging Het
Pak5 A G 2: 136,100,939 (GRCm38) V427A probably benign Het
Pfas G A 11: 69,000,530 (GRCm38) A247V probably benign Het
Pramel52-ps C T 5: 94,383,631 (GRCm38) H125Y possibly damaging Het
Psat1 T A 19: 15,917,181 (GRCm38) T115S probably benign Het
Psme4 T A 11: 30,837,437 (GRCm38) D1077E probably benign Het
Rabgap1l A G 1: 160,682,182 (GRCm38) S442P probably benign Het
Ralgapa1 A G 12: 55,776,191 (GRCm38) M280T possibly damaging Het
Rb1cc1 A T 1: 6,261,032 (GRCm38) E394D probably damaging Het
Seh1l T C 18: 67,789,390 (GRCm38) V271A probably benign Het
Sf3b1 A T 1: 54,997,156 (GRCm38) N919K probably benign Het
Sftpd A G 14: 41,174,492 (GRCm38) S245P possibly damaging Het
Slc22a15 T C 3: 101,924,114 (GRCm38) E2G probably damaging Het
Spta1 A G 1: 174,209,325 (GRCm38) D1134G possibly damaging Het
Syna A G 5: 134,558,961 (GRCm38) V378A probably damaging Het
Tchp A G 5: 114,709,350 (GRCm38) K77E possibly damaging Het
Tescl T C 7: 24,333,531 (GRCm38) N123S probably benign Het
Trio C T 15: 27,824,090 (GRCm38) R1443Q probably damaging Het
Trrap A T 5: 144,790,855 (GRCm38) Y462F possibly damaging Het
Vmn1r78 A G 7: 12,152,905 (GRCm38) T148A probably benign Het
Vmn2r111 T C 17: 22,559,051 (GRCm38) N549S possibly damaging Het
Zfp1007 A C 5: 109,676,845 (GRCm38) N246K probably benign Het
Other mutations in Cacna2d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Cacna2d3 APN 14 29,300,731 (GRCm38) splice site probably benign
IGL01150:Cacna2d3 APN 14 29,183,641 (GRCm38) missense possibly damaging 0.95
IGL01390:Cacna2d3 APN 14 28,943,591 (GRCm38) missense possibly damaging 0.91
IGL01626:Cacna2d3 APN 14 28,943,607 (GRCm38) missense possibly damaging 0.90
IGL02127:Cacna2d3 APN 14 29,063,875 (GRCm38) unclassified probably benign
IGL02237:Cacna2d3 APN 14 29,346,997 (GRCm38) missense probably benign 0.09
IGL02274:Cacna2d3 APN 14 28,956,870 (GRCm38) splice site probably null
IGL02604:Cacna2d3 APN 14 29,293,109 (GRCm38) missense possibly damaging 0.61
IGL02806:Cacna2d3 APN 14 29,351,950 (GRCm38) splice site probably null
IGL02838:Cacna2d3 APN 14 29,300,828 (GRCm38) critical splice acceptor site probably null
IGL02894:Cacna2d3 APN 14 29,064,319 (GRCm38) critical splice acceptor site probably null
IGL03061:Cacna2d3 APN 14 29,058,431 (GRCm38) missense probably damaging 0.98
IGL03117:Cacna2d3 APN 14 29,467,952 (GRCm38) missense probably damaging 1.00
IGL03265:Cacna2d3 APN 14 28,952,286 (GRCm38) missense probably damaging 0.98
IGL03266:Cacna2d3 APN 14 29,300,748 (GRCm38) missense probably benign 0.01
IGL03396:Cacna2d3 APN 14 29,720,877 (GRCm38) nonsense probably null
R0094:Cacna2d3 UTSW 14 29,170,503 (GRCm38) critical splice donor site probably null
R0326:Cacna2d3 UTSW 14 29,045,644 (GRCm38) missense probably damaging 0.96
R0485:Cacna2d3 UTSW 14 29,534,519 (GRCm38) missense possibly damaging 0.89
R0669:Cacna2d3 UTSW 14 29,467,949 (GRCm38) missense probably benign 0.40
R0730:Cacna2d3 UTSW 14 28,982,365 (GRCm38) missense probably benign 0.02
R0736:Cacna2d3 UTSW 14 29,058,628 (GRCm38) missense probably benign 0.02
R1073:Cacna2d3 UTSW 14 29,045,623 (GRCm38) missense probably damaging 0.99
R1116:Cacna2d3 UTSW 14 29,064,321 (GRCm38) splice site probably benign
R1312:Cacna2d3 UTSW 14 29,045,668 (GRCm38) missense probably benign 0.00
R1467:Cacna2d3 UTSW 14 29,333,779 (GRCm38) missense possibly damaging 0.67
R1467:Cacna2d3 UTSW 14 29,333,779 (GRCm38) missense possibly damaging 0.67
R1501:Cacna2d3 UTSW 14 28,981,180 (GRCm38) missense probably damaging 1.00
R1525:Cacna2d3 UTSW 14 28,972,242 (GRCm38) missense probably benign 0.01
R1574:Cacna2d3 UTSW 14 29,351,822 (GRCm38) missense probably damaging 1.00
R1574:Cacna2d3 UTSW 14 29,351,822 (GRCm38) missense probably damaging 1.00
R1866:Cacna2d3 UTSW 14 28,969,214 (GRCm38) missense probably damaging 1.00
R2403:Cacna2d3 UTSW 14 28,905,302 (GRCm38) missense probably benign 0.38
R2981:Cacna2d3 UTSW 14 29,063,918 (GRCm38) missense probably damaging 1.00
R3715:Cacna2d3 UTSW 14 29,346,923 (GRCm38) missense probably damaging 1.00
R3791:Cacna2d3 UTSW 14 29,183,581 (GRCm38) missense probably benign 0.03
R3847:Cacna2d3 UTSW 14 29,347,120 (GRCm38) critical splice donor site probably null
R3849:Cacna2d3 UTSW 14 29,347,120 (GRCm38) critical splice donor site probably null
R3850:Cacna2d3 UTSW 14 29,347,120 (GRCm38) critical splice donor site probably null
R4558:Cacna2d3 UTSW 14 29,103,713 (GRCm38) missense possibly damaging 0.70
R4594:Cacna2d3 UTSW 14 28,982,346 (GRCm38) missense probably benign 0.13
R4681:Cacna2d3 UTSW 14 29,293,135 (GRCm38) missense probably damaging 1.00
R4868:Cacna2d3 UTSW 14 28,956,786 (GRCm38) splice site probably null
R4965:Cacna2d3 UTSW 14 28,982,332 (GRCm38) missense probably benign 0.07
R5133:Cacna2d3 UTSW 14 29,293,178 (GRCm38) missense possibly damaging 0.75
R5311:Cacna2d3 UTSW 14 29,347,030 (GRCm38) missense probably damaging 0.99
R5432:Cacna2d3 UTSW 14 28,943,555 (GRCm38) critical splice donor site probably null
R5873:Cacna2d3 UTSW 14 29,720,934 (GRCm38) missense probably benign 0.31
R6103:Cacna2d3 UTSW 14 29,396,489 (GRCm38) missense probably damaging 1.00
R6197:Cacna2d3 UTSW 14 28,908,321 (GRCm38) missense probably benign 0.38
R6396:Cacna2d3 UTSW 14 29,396,565 (GRCm38) missense probably benign 0.03
R6626:Cacna2d3 UTSW 14 29,064,186 (GRCm38) unclassified probably benign
R6632:Cacna2d3 UTSW 14 28,905,265 (GRCm38) makesense probably null
R6706:Cacna2d3 UTSW 14 29,124,685 (GRCm38) critical splice acceptor site probably null
R6765:Cacna2d3 UTSW 14 29,055,977 (GRCm38) missense probably damaging 1.00
R7009:Cacna2d3 UTSW 14 28,969,365 (GRCm38) start codon destroyed probably null
R7069:Cacna2d3 UTSW 14 28,969,303 (GRCm38) intron probably benign
R7146:Cacna2d3 UTSW 14 29,721,697 (GRCm38) missense unknown
R7427:Cacna2d3 UTSW 14 29,064,275 (GRCm38) missense probably damaging 1.00
R7428:Cacna2d3 UTSW 14 29,064,275 (GRCm38) missense probably damaging 1.00
R7445:Cacna2d3 UTSW 14 29,058,618 (GRCm38) missense possibly damaging 0.88
R7505:Cacna2d3 UTSW 14 29,045,544 (GRCm38) splice site probably null
R7560:Cacna2d3 UTSW 14 29,058,421 (GRCm38) missense probably benign 0.18
R7703:Cacna2d3 UTSW 14 29,043,546 (GRCm38) missense possibly damaging 0.90
R8042:Cacna2d3 UTSW 14 29,105,038 (GRCm38) splice site probably benign
R8096:Cacna2d3 UTSW 14 29,103,700 (GRCm38) missense possibly damaging 0.62
R8280:Cacna2d3 UTSW 14 28,982,371 (GRCm38) missense probably benign 0.25
R8814:Cacna2d3 UTSW 14 29,097,815 (GRCm38) missense probably damaging 1.00
R8838:Cacna2d3 UTSW 14 28,969,263 (GRCm38) missense probably benign 0.03
R8864:Cacna2d3 UTSW 14 29,333,778 (GRCm38) missense probably damaging 1.00
R9103:Cacna2d3 UTSW 14 29,347,014 (GRCm38) missense probably damaging 1.00
R9341:Cacna2d3 UTSW 14 28,982,358 (GRCm38) missense possibly damaging 0.92
R9343:Cacna2d3 UTSW 14 28,982,358 (GRCm38) missense possibly damaging 0.92
R9567:Cacna2d3 UTSW 14 28,905,311 (GRCm38) missense probably benign 0.38
Z1088:Cacna2d3 UTSW 14 29,064,308 (GRCm38) missense probably damaging 0.99
Z1177:Cacna2d3 UTSW 14 29,347,163 (GRCm38) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- CCTGGTCAGTTCAGGCTTGTATC -3'
(R):5'- TTGTGGAGACATCCCCATCTG -3'

Sequencing Primer
(F):5'- CTTACTTAGGTAAACTGAGAGCACC -3'
(R):5'- GAGACATCCCCATCTGCTCACTG -3'
Posted On 2018-11-28