Incidental Mutation 'IGL02894:Cacna2d3'
ID 363368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacna2d3
Ensembl Gene ENSMUSG00000021991
Gene Name calcium channel, voltage-dependent, alpha2/delta subunit 3
Synonyms alpha 2 delta-3, alpha2delta3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02894
Quality Score
Status
Chromosome 14
Chromosomal Location 28626900-29443821 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to T at 28786276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022567] [ENSMUST00000225733] [ENSMUST00000225863]
AlphaFold Q9Z1L5
Predicted Effect probably null
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 probably benign
Transcript: ENSMUST00000225733
Predicted Effect probably benign
Transcript: ENSMUST00000225863
Coding Region Coverage
Validation Efficiency
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
A630023A22Rik T A 14: 33,776,817 (GRCm39) probably benign Het
Aurka T A 2: 172,208,868 (GRCm39) probably null Het
Cdh12 A G 15: 21,586,380 (GRCm39) Y733C probably damaging Het
Cdon A T 9: 35,366,722 (GRCm39) E199D probably benign Het
Celsr2 A T 3: 108,302,526 (GRCm39) L558Q probably damaging Het
Clcnkb C A 4: 141,135,130 (GRCm39) R536L probably benign Het
Cyp3a11 G A 5: 145,805,836 (GRCm39) Q151* probably null Het
Dnah7a A T 1: 53,616,487 (GRCm39) V1158E probably benign Het
Dnah8 G T 17: 30,940,084 (GRCm39) E1677* probably null Het
Dock3 T C 9: 106,807,298 (GRCm39) N1343S probably benign Het
Dock6 T A 9: 21,723,111 (GRCm39) E1603D probably damaging Het
Fam91a1 C T 15: 58,315,080 (GRCm39) T589M probably benign Het
Fat2 T A 11: 55,147,479 (GRCm39) N3921I probably damaging Het
Gm10188 A G 1: 132,157,037 (GRCm39) probably benign Het
Grid2ip A G 5: 143,376,863 (GRCm39) E976G probably benign Het
Hapln3 G T 7: 78,771,521 (GRCm39) Q123K probably benign Het
Hnrnpul1 G A 7: 25,450,329 (GRCm39) P128S possibly damaging Het
Hsd3b1 T A 3: 98,760,245 (GRCm39) I249F possibly damaging Het
Kbtbd3 A T 9: 4,331,444 (GRCm39) H606L probably benign Het
Krt82 T C 15: 101,451,155 (GRCm39) Y418C probably damaging Het
Mcm3ap C A 10: 76,313,601 (GRCm39) A565E probably benign Het
Minar1 T G 9: 89,485,155 (GRCm39) I81L probably damaging Het
Naip2 A G 13: 100,297,505 (GRCm39) S844P probably damaging Het
Naip2 C T 13: 100,320,297 (GRCm39) V240I probably benign Het
Notch2 T A 3: 98,009,748 (GRCm39) C558* probably null Het
Npdc1 T A 2: 25,298,007 (GRCm39) H185Q probably benign Het
Or2a25 A T 6: 42,888,451 (GRCm39) probably benign Het
Or4c31 T G 2: 88,292,070 (GRCm39) Y148D probably damaging Het
Or5d37 T C 2: 87,924,107 (GRCm39) I58V possibly damaging Het
Osbpl3 A T 6: 50,323,312 (GRCm39) I257N possibly damaging Het
Pkd1l2 T A 8: 117,740,630 (GRCm39) T2156S probably damaging Het
Ppp1r13b A G 12: 111,797,888 (GRCm39) probably benign Het
Ppp3ca C A 3: 136,503,573 (GRCm39) H49N probably damaging Het
Prrc2c A T 1: 162,505,626 (GRCm39) L1100I probably damaging Het
Ptpn21 A C 12: 98,655,891 (GRCm39) probably benign Het
Ptpn7 A T 1: 135,070,906 (GRCm39) M332L probably damaging Het
Ptprq T A 10: 107,503,285 (GRCm39) Q791L probably benign Het
Ptprz1 G A 6: 23,035,148 (GRCm39) R1966H probably damaging Het
Ralgapa1 T A 12: 55,763,854 (GRCm39) Q1404L possibly damaging Het
Reln C A 5: 22,090,546 (GRCm39) M3437I possibly damaging Het
S100a7l2 A T 3: 90,995,700 (GRCm39) F67L probably benign Het
Slc13a1 T C 6: 24,137,041 (GRCm39) probably benign Het
Slc4a11 T C 2: 130,529,075 (GRCm39) probably null Het
Slc9a2 A G 1: 40,802,762 (GRCm39) E604G probably benign Het
Sod3 T G 5: 52,525,348 (GRCm39) S16A possibly damaging Het
Taok3 A G 5: 117,401,678 (GRCm39) I650V probably benign Het
Uggt2 T C 14: 119,319,211 (GRCm39) I270M probably damaging Het
Ugt3a1 T A 15: 9,367,487 (GRCm39) I410N probably damaging Het
Ush2a G A 1: 188,184,043 (GRCm39) S1449N probably damaging Het
Usp29 A T 7: 6,964,633 (GRCm39) M159L probably benign Het
Vmn1r122 A T 7: 20,867,649 (GRCm39) F135L probably benign Het
Wdr11 T C 7: 129,232,890 (GRCm39) probably benign Het
Zc3h14 T A 12: 98,725,202 (GRCm39) probably null Het
Zfp955a A T 17: 33,461,426 (GRCm39) C235* probably null 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
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
R0730:Cacna2d3 UTSW 14 28,704,322 (GRCm39) missense probably benign 0.02
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
Posted On 2015-12-18