Incidental Mutation 'R0730:Cacna2d3'
ID 67503
Institutional Source Beutler Lab
Gene Symbol Cacna2d3
Ensembl Gene ENSMUSG00000021991
Gene Name calcium channel, voltage-dependent, alpha2/delta subunit 3
Synonyms alpha 2 delta-3, alpha2delta3
MMRRC Submission 038911-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0730 (G1)
Quality Score 222
Status Validated
Chromosome 14
Chromosomal Location 28626900-29443821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28704322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 820 (I820V)
Ref Sequence ENSEMBL: ENSMUSP00000022567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022567]
AlphaFold Q9Z1L5
Predicted Effect probably benign
Transcript: ENSMUST00000022567
AA Change: I820V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: I820V

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
Meta Mutation Damage Score 0.0804 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 99% (99/100)
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,486,774 (GRCm39) I168N probably benign Het
Adamts20 G A 15: 94,245,571 (GRCm39) A577V probably benign Het
Agtr1a A T 13: 30,565,279 (GRCm39) S115C probably damaging Het
Ankrd11 T C 8: 123,618,692 (GRCm39) Y1720C probably damaging Het
Ano6 A T 15: 95,818,252 (GRCm39) T353S probably damaging Het
App A G 16: 84,876,840 (GRCm39) F184L probably damaging Het
Arhgef38 T A 3: 132,843,232 (GRCm39) Y446F probably benign Het
Aspg T A 12: 112,078,693 (GRCm39) Y57* probably null Het
Atp1a4 G A 1: 172,067,774 (GRCm39) probably benign Het
Bdp1 G A 13: 100,195,459 (GRCm39) probably benign Het
Bicd2 T A 13: 49,531,717 (GRCm39) S246T possibly damaging Het
Brd10 T A 19: 29,695,381 (GRCm39) I1438F probably benign Het
Bsn T A 9: 107,984,011 (GRCm39) M3348L unknown Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cdc40 A G 10: 40,720,952 (GRCm39) probably benign Het
Cdh23 T C 10: 60,159,493 (GRCm39) E2094G probably damaging Het
Celsr2 T A 3: 108,305,922 (GRCm39) N2061Y probably damaging Het
Cfap206 G A 4: 34,711,391 (GRCm39) A502V probably benign Het
Cfap54 T C 10: 92,870,599 (GRCm39) T29A probably benign Het
Cfap57 T C 4: 118,470,117 (GRCm39) probably null Het
Chd5 A G 4: 152,432,441 (GRCm39) E43G possibly damaging Het
Clk1 G A 1: 58,453,558 (GRCm39) H343Y probably benign Het
Cntn4 A C 6: 106,527,447 (GRCm39) K443T probably damaging Het
Csn2 G A 5: 87,842,811 (GRCm39) A72V possibly damaging Het
Ctdp1 T A 18: 80,493,457 (GRCm39) H346L probably benign Het
Ctif A T 18: 75,698,083 (GRCm39) N192K probably damaging Het
Ddr2 G A 1: 169,823,135 (GRCm39) A383V probably benign Het
Derl3 C T 10: 75,731,076 (GRCm39) probably benign Het
Dgkh T C 14: 78,821,919 (GRCm39) I865V probably damaging Het
Dip2b C T 15: 100,069,532 (GRCm39) A619V probably damaging Het
Elapor1 T A 3: 108,376,851 (GRCm39) H509L probably benign Het
Eml1 A G 12: 108,496,585 (GRCm39) T614A possibly damaging Het
Eogt G C 6: 97,092,970 (GRCm39) Y402* probably null Het
Erbb4 A G 1: 68,298,449 (GRCm39) V647A probably damaging Het
Esm1 G T 13: 113,350,036 (GRCm39) probably null Het
Fbxo31 A G 8: 122,282,103 (GRCm39) probably benign Het
Fbxw5 T A 2: 25,394,630 (GRCm39) D201E possibly damaging Het
Fgfr1 G A 8: 26,045,760 (GRCm39) D123N probably benign Het
G530012D18Rik A C 1: 85,504,757 (GRCm39) probably benign Het
Gnat1 G A 9: 107,556,662 (GRCm39) T29I probably damaging Het
Gtf2ird2 A T 5: 134,221,597 (GRCm39) R67* probably null Het
Il22b A T 10: 118,130,142 (GRCm39) D87E probably benign Het
Kcnq3 T C 15: 65,867,457 (GRCm39) T729A probably benign Het
Klrc2 A T 6: 129,635,659 (GRCm39) S156R probably damaging Het
Krt76 A T 15: 101,795,784 (GRCm39) L462Q probably damaging Het
Lama3 C A 18: 12,589,907 (GRCm39) probably benign Het
Lin28a A T 4: 133,735,319 (GRCm39) S56T probably damaging Het
Macf1 A G 4: 123,276,323 (GRCm39) probably benign Het
Macrod2 C T 2: 142,059,594 (GRCm39) probably benign Het
Mansc1 C T 6: 134,594,424 (GRCm39) probably benign Het
Map1b G T 13: 99,566,274 (GRCm39) S2149* probably null Het
Mgst1 A T 6: 138,124,667 (GRCm39) T34S probably benign Het
Mlf2 C T 6: 124,911,354 (GRCm39) T123M probably damaging Het
Mospd2 C T X: 163,731,253 (GRCm39) probably benign Het
Mrpl15 A T 1: 4,847,834 (GRCm39) V155E probably damaging Het
Mstn A T 1: 53,100,953 (GRCm39) Y10F possibly damaging Het
Myo1g C T 11: 6,470,794 (GRCm39) V21M probably damaging Het
Myom2 T C 8: 15,149,326 (GRCm39) I599T probably benign Het
Ndc80 A T 17: 71,803,241 (GRCm39) N633K probably benign Het
Nhs C A X: 160,620,296 (GRCm39) V1487L possibly damaging Het
Npc1 T C 18: 12,352,382 (GRCm39) T106A probably benign Het
Nup133 C T 8: 124,675,747 (GRCm39) V57M probably benign Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Oprm1 T C 10: 6,782,652 (GRCm39) probably benign Het
Or5j1 T C 2: 86,879,492 (GRCm39) I29M probably benign Het
Or6c219 T A 10: 129,780,980 (GRCm39) H317L probably benign Het
Or8j3 A G 2: 86,029,069 (GRCm39) V9A probably benign Het
Ostf1 C T 19: 18,581,571 (GRCm39) V14I unknown Het
Pcdhb14 C A 18: 37,581,921 (GRCm39) D342E probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pdpr T C 8: 111,852,387 (GRCm39) probably null Het
Plce1 G A 19: 38,705,135 (GRCm39) V847M probably damaging Het
Pon3 A G 6: 5,230,444 (GRCm39) M288T probably benign Het
Psd2 A T 18: 36,111,627 (GRCm39) D84V possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapa1 T C 12: 55,712,448 (GRCm39) K1808E probably damaging Het
Ramp3 T C 11: 6,626,476 (GRCm39) probably benign Het
Rasgrf1 T A 9: 89,833,062 (GRCm39) probably benign Het
Rictor A G 15: 6,803,467 (GRCm39) probably benign Het
Rptor A T 11: 119,775,780 (GRCm39) I984F probably benign Het
Slc1a6 C T 10: 78,631,842 (GRCm39) P223S probably benign Het
Taar8b A C 10: 23,967,924 (GRCm39) V90G probably damaging Het
Tbc1d21 A G 9: 58,267,160 (GRCm39) V327A probably benign Het
Tex21 T C 12: 76,250,940 (GRCm39) T499A probably benign Het
Tg A T 15: 66,550,638 (GRCm39) D256V probably damaging Het
Tmf1 A G 6: 97,153,453 (GRCm39) S207P probably benign Het
Tpr A G 1: 150,269,158 (GRCm39) probably benign Het
Ufd1 A G 16: 18,633,637 (GRCm39) T21A probably damaging Het
Unc13a T C 8: 72,108,929 (GRCm39) D115G possibly damaging Het
Usb1 T A 8: 96,070,669 (GRCm39) F198L probably damaging Het
Utrn A T 10: 12,573,902 (GRCm39) probably benign Het
Vars1 A G 17: 35,233,276 (GRCm39) N954S probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Wdr33 C T 18: 31,968,429 (GRCm39) probably benign Het
Zfp236 A G 18: 82,658,369 (GRCm39) probably benign Het
Zfp445 A T 9: 122,690,823 (GRCm39) V124E probably damaging Het
Zfp616 A T 11: 73,975,648 (GRCm39) H639L probably damaging Het
Zfyve16 C A 13: 92,657,985 (GRCm39) S642I probably damaging Het
Zswim5 C T 4: 116,842,943 (GRCm39) T896I possibly damaging Het
Other mutations in Cacna2d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Cacna2d3 APN 14 29,022,688 (GRCm39) splice site probably benign
IGL01150:Cacna2d3 APN 14 28,905,598 (GRCm39) missense possibly damaging 0.95
IGL01390:Cacna2d3 APN 14 28,665,548 (GRCm39) missense possibly damaging 0.91
IGL01626:Cacna2d3 APN 14 28,665,564 (GRCm39) missense possibly damaging 0.90
IGL02127:Cacna2d3 APN 14 28,785,832 (GRCm39) unclassified probably benign
IGL02237:Cacna2d3 APN 14 29,068,954 (GRCm39) missense probably benign 0.09
IGL02274:Cacna2d3 APN 14 28,678,827 (GRCm39) splice site probably null
IGL02604:Cacna2d3 APN 14 29,015,066 (GRCm39) missense possibly damaging 0.61
IGL02806:Cacna2d3 APN 14 29,073,907 (GRCm39) splice site probably null
IGL02838:Cacna2d3 APN 14 29,022,785 (GRCm39) critical splice acceptor site probably null
IGL02894:Cacna2d3 APN 14 28,786,276 (GRCm39) critical splice acceptor site probably null
IGL03061:Cacna2d3 APN 14 28,780,388 (GRCm39) missense probably damaging 0.98
IGL03117:Cacna2d3 APN 14 29,189,909 (GRCm39) missense probably damaging 1.00
IGL03265:Cacna2d3 APN 14 28,674,243 (GRCm39) missense probably damaging 0.98
IGL03266:Cacna2d3 APN 14 29,022,705 (GRCm39) missense probably benign 0.01
IGL03396:Cacna2d3 APN 14 29,442,834 (GRCm39) nonsense probably null
R0094:Cacna2d3 UTSW 14 28,892,460 (GRCm39) critical splice donor site probably null
R0326:Cacna2d3 UTSW 14 28,767,601 (GRCm39) missense probably damaging 0.96
R0485:Cacna2d3 UTSW 14 29,256,476 (GRCm39) missense possibly damaging 0.89
R0669:Cacna2d3 UTSW 14 29,189,906 (GRCm39) missense probably benign 0.40
R0736:Cacna2d3 UTSW 14 28,780,585 (GRCm39) missense probably benign 0.02
R1073:Cacna2d3 UTSW 14 28,767,580 (GRCm39) missense probably damaging 0.99
R1116:Cacna2d3 UTSW 14 28,786,278 (GRCm39) splice site probably benign
R1312:Cacna2d3 UTSW 14 28,767,625 (GRCm39) missense probably benign 0.00
R1467:Cacna2d3 UTSW 14 29,055,736 (GRCm39) missense possibly damaging 0.67
R1467:Cacna2d3 UTSW 14 29,055,736 (GRCm39) missense possibly damaging 0.67
R1501:Cacna2d3 UTSW 14 28,703,137 (GRCm39) missense probably damaging 1.00
R1525:Cacna2d3 UTSW 14 28,694,199 (GRCm39) missense probably benign 0.01
R1574:Cacna2d3 UTSW 14 29,073,779 (GRCm39) missense probably damaging 1.00
R1574:Cacna2d3 UTSW 14 29,073,779 (GRCm39) missense probably damaging 1.00
R1866:Cacna2d3 UTSW 14 28,691,171 (GRCm39) missense probably damaging 1.00
R2403:Cacna2d3 UTSW 14 28,627,259 (GRCm39) missense probably benign 0.38
R2981:Cacna2d3 UTSW 14 28,785,875 (GRCm39) missense probably damaging 1.00
R3715:Cacna2d3 UTSW 14 29,068,880 (GRCm39) missense probably damaging 1.00
R3791:Cacna2d3 UTSW 14 28,905,538 (GRCm39) missense probably benign 0.03
R3847:Cacna2d3 UTSW 14 29,069,077 (GRCm39) critical splice donor site probably null
R3849:Cacna2d3 UTSW 14 29,069,077 (GRCm39) critical splice donor site probably null
R3850:Cacna2d3 UTSW 14 29,069,077 (GRCm39) critical splice donor site probably null
R4558:Cacna2d3 UTSW 14 28,825,670 (GRCm39) missense possibly damaging 0.70
R4594:Cacna2d3 UTSW 14 28,704,303 (GRCm39) missense probably benign 0.13
R4681:Cacna2d3 UTSW 14 29,015,092 (GRCm39) missense probably damaging 1.00
R4868:Cacna2d3 UTSW 14 28,678,743 (GRCm39) splice site probably null
R4965:Cacna2d3 UTSW 14 28,704,289 (GRCm39) missense probably benign 0.07
R5133:Cacna2d3 UTSW 14 29,015,135 (GRCm39) missense possibly damaging 0.75
R5311:Cacna2d3 UTSW 14 29,068,987 (GRCm39) missense probably damaging 0.99
R5432:Cacna2d3 UTSW 14 28,665,512 (GRCm39) critical splice donor site probably null
R5873:Cacna2d3 UTSW 14 29,442,891 (GRCm39) missense probably benign 0.31
R6103:Cacna2d3 UTSW 14 29,118,446 (GRCm39) missense probably damaging 1.00
R6197:Cacna2d3 UTSW 14 28,630,278 (GRCm39) missense probably benign 0.38
R6396:Cacna2d3 UTSW 14 29,118,522 (GRCm39) missense probably benign 0.03
R6626:Cacna2d3 UTSW 14 28,786,143 (GRCm39) unclassified probably benign
R6632:Cacna2d3 UTSW 14 28,627,222 (GRCm39) makesense probably null
R6706:Cacna2d3 UTSW 14 28,846,642 (GRCm39) critical splice acceptor site probably null
R6765:Cacna2d3 UTSW 14 28,777,934 (GRCm39) missense probably damaging 1.00
R6945:Cacna2d3 UTSW 14 28,691,275 (GRCm39) intron probably benign
R7009:Cacna2d3 UTSW 14 28,691,322 (GRCm39) start codon destroyed probably null
R7069:Cacna2d3 UTSW 14 28,691,260 (GRCm39) intron probably benign
R7146:Cacna2d3 UTSW 14 29,443,654 (GRCm39) missense unknown
R7427:Cacna2d3 UTSW 14 28,786,232 (GRCm39) missense probably damaging 1.00
R7428:Cacna2d3 UTSW 14 28,786,232 (GRCm39) missense probably damaging 1.00
R7445:Cacna2d3 UTSW 14 28,780,575 (GRCm39) missense possibly damaging 0.88
R7505:Cacna2d3 UTSW 14 28,767,501 (GRCm39) splice site probably null
R7560:Cacna2d3 UTSW 14 28,780,378 (GRCm39) missense probably benign 0.18
R7703:Cacna2d3 UTSW 14 28,765,503 (GRCm39) missense possibly damaging 0.90
R8042:Cacna2d3 UTSW 14 28,826,995 (GRCm39) splice site probably benign
R8096:Cacna2d3 UTSW 14 28,825,657 (GRCm39) missense possibly damaging 0.62
R8280:Cacna2d3 UTSW 14 28,704,328 (GRCm39) missense probably benign 0.25
R8814:Cacna2d3 UTSW 14 28,819,772 (GRCm39) missense probably damaging 1.00
R8838:Cacna2d3 UTSW 14 28,691,220 (GRCm39) missense probably benign 0.03
R8864:Cacna2d3 UTSW 14 29,055,735 (GRCm39) missense probably damaging 1.00
R9103:Cacna2d3 UTSW 14 29,068,971 (GRCm39) missense probably damaging 1.00
R9341:Cacna2d3 UTSW 14 28,704,315 (GRCm39) missense possibly damaging 0.92
R9343:Cacna2d3 UTSW 14 28,704,315 (GRCm39) missense possibly damaging 0.92
R9567:Cacna2d3 UTSW 14 28,627,268 (GRCm39) missense probably benign 0.38
Z1088:Cacna2d3 UTSW 14 28,786,265 (GRCm39) missense probably damaging 0.99
Z1177:Cacna2d3 UTSW 14 29,069,120 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- TCAGAAATCTGGCACTGTTTGCCC -3'
(R):5'- ACTGCTGCTGCCTTTCAGATGTTG -3'

Sequencing Primer
(F):5'- ACTGTTTGCCCCAGCTAC -3'
(R):5'- GTATGCCTGTGTCAGCAATC -3'
Posted On 2013-09-03