Incidental Mutation 'IGL01576:Cacna2d4'
ID 91257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacna2d4
Ensembl Gene ENSMUSG00000041460
Gene Name calcium channel, voltage-dependent, alpha 2/delta subunit 4
Synonyms 5730412N02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01576
Quality Score
Status
Chromosome 6
Chromosomal Location 119213487-119329368 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 119258602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 563 (R563*)
Ref Sequence ENSEMBL: ENSMUSP00000140197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037434] [ENSMUST00000186622]
AlphaFold Q5RJF7
Predicted Effect probably null
Transcript: ENSMUST00000037434
AA Change: R588*
SMART Domains Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: R588*

DomainStartEndE-ValueType
Blast:WNT1 79 144 1e-13 BLAST
Pfam:VWA_N 155 271 7.3e-40 PFAM
VWA 296 481 4.37e-14 SMART
Pfam:Cache_1 494 586 1.1e-24 PFAM
low complexity region 837 849 N/A INTRINSIC
low complexity region 975 984 N/A INTRINSIC
low complexity region 1000 1011 N/A INTRINSIC
low complexity region 1120 1143 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000186622
AA Change: R563*
SMART Domains Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: R563*

DomainStartEndE-ValueType
Blast:WNT1 79 144 1e-13 BLAST
Pfam:VWA_N 155 271 6.4e-44 PFAM
VWA 296 481 2.7e-16 SMART
Pfam:Cache_1 494 559 1.1e-7 PFAM
low complexity region 812 824 N/A INTRINSIC
low complexity region 950 959 N/A INTRINSIC
low complexity region 975 986 N/A INTRINSIC
low complexity region 1095 1118 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190015
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 a spontaneous mutation exhibit severe loss of retinal signaling associated with abnormal photoreceptor ribbon synapses and cone-rod dysfunction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,531,293 (GRCm39) probably benign Het
Ank3 A G 10: 69,816,121 (GRCm39) E541G probably damaging Het
Arhgef5 A T 6: 43,250,962 (GRCm39) D571V probably benign Het
Birc6 A G 17: 74,984,365 (GRCm39) N4459S possibly damaging Het
Brsk2 T C 7: 141,535,292 (GRCm39) I38T possibly damaging Het
Car7 T A 8: 105,276,180 (GRCm39) probably null Het
Chml T C 1: 175,515,271 (GRCm39) T217A probably benign Het
Dnah7b T G 1: 46,307,813 (GRCm39) N3042K probably damaging Het
Efcab2 T G 1: 178,264,957 (GRCm39) probably benign Het
Espn T C 4: 152,208,174 (GRCm39) E397G probably damaging Het
Fam20c A G 5: 138,793,094 (GRCm39) T443A probably damaging Het
Fam221b T C 4: 43,666,227 (GRCm39) E128G probably benign Het
Fat4 A G 3: 38,943,096 (GRCm39) D663G probably damaging Het
Fndc10 T A 4: 155,779,433 (GRCm39) V159D probably benign Het
Gm14496 A G 2: 181,633,164 (GRCm39) Y49C possibly damaging Het
Gpr63 G T 4: 25,008,445 (GRCm39) D390Y possibly damaging Het
Herc2 G A 7: 55,876,409 (GRCm39) probably null Het
Igdcc3 A G 9: 65,085,152 (GRCm39) T199A probably damaging Het
Ireb2 T C 9: 54,799,794 (GRCm39) Y412H probably damaging Het
Lpin3 T C 2: 160,739,047 (GRCm39) V285A probably benign Het
Mdga1 T C 17: 30,062,101 (GRCm39) S443G possibly damaging Het
Med22 C T 2: 26,799,004 (GRCm39) probably null Het
Or7c70 G T 10: 78,683,207 (GRCm39) L181I possibly damaging Het
Pals2 G A 6: 50,140,472 (GRCm39) R164Q probably benign Het
Pcnt T G 10: 76,204,656 (GRCm39) D2583A probably damaging Het
Pkn3 G A 2: 29,977,054 (GRCm39) R598Q probably damaging Het
Pnpla7 T C 2: 24,906,575 (GRCm39) V646A probably damaging Het
Podxl A T 6: 31,501,319 (GRCm39) V412D probably damaging Het
Rad51ap1 A T 6: 126,905,123 (GRCm39) S129R probably damaging Het
Relb T C 7: 19,346,526 (GRCm39) I349V probably benign Het
Rorb C T 19: 18,934,698 (GRCm39) G224D probably damaging Het
Slc40a1 T A 1: 45,948,757 (GRCm39) I508F probably damaging Het
Tanc1 G A 2: 59,628,079 (GRCm39) V619M probably damaging Het
Tgm7 A T 2: 120,931,514 (GRCm39) D216E probably damaging Het
Tmem132e A G 11: 82,329,200 (GRCm39) D493G probably damaging Het
Zfp110 T A 7: 12,583,598 (GRCm39) C749S probably damaging Het
Zscan4d T C 7: 10,896,519 (GRCm39) N284D possibly damaging Het
Other mutations in Cacna2d4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Cacna2d4 APN 6 119,314,894 (GRCm39) splice site probably benign
IGL00469:Cacna2d4 APN 6 119,245,239 (GRCm39) missense probably damaging 1.00
IGL00518:Cacna2d4 APN 6 119,320,536 (GRCm39) missense probably damaging 1.00
IGL00946:Cacna2d4 APN 6 119,248,876 (GRCm39) missense possibly damaging 0.82
IGL01447:Cacna2d4 APN 6 119,219,865 (GRCm39) missense probably damaging 1.00
IGL01514:Cacna2d4 APN 6 119,259,134 (GRCm39) splice site probably benign
IGL01934:Cacna2d4 APN 6 119,285,729 (GRCm39) missense probably damaging 1.00
IGL02231:Cacna2d4 APN 6 119,254,869 (GRCm39) splice site probably benign
IGL02516:Cacna2d4 APN 6 119,248,831 (GRCm39) splice site probably benign
IGL02688:Cacna2d4 APN 6 119,247,710 (GRCm39) splice site probably null
IGL03110:Cacna2d4 APN 6 119,213,698 (GRCm39) missense probably benign 0.05
IGL03365:Cacna2d4 APN 6 119,248,225 (GRCm39) missense probably benign 0.15
saccharine UTSW 6 119,322,067 (GRCm39) splice site probably benign
Steveo UTSW 6 119,324,213 (GRCm39) critical splice donor site probably null
Sussmann UTSW 6 119,251,279 (GRCm39) missense probably damaging 1.00
R0139:Cacna2d4 UTSW 6 119,255,230 (GRCm39) intron probably benign
R0157:Cacna2d4 UTSW 6 119,289,385 (GRCm39) missense probably benign 0.00
R0158:Cacna2d4 UTSW 6 119,213,709 (GRCm39) missense possibly damaging 0.68
R0245:Cacna2d4 UTSW 6 119,285,682 (GRCm39) missense probably damaging 1.00
R0612:Cacna2d4 UTSW 6 119,258,679 (GRCm39) splice site probably benign
R0659:Cacna2d4 UTSW 6 119,322,067 (GRCm39) splice site probably benign
R0722:Cacna2d4 UTSW 6 119,284,247 (GRCm39) missense probably damaging 1.00
R0743:Cacna2d4 UTSW 6 119,284,247 (GRCm39) missense probably damaging 1.00
R0833:Cacna2d4 UTSW 6 119,284,247 (GRCm39) missense probably damaging 1.00
R0835:Cacna2d4 UTSW 6 119,284,247 (GRCm39) missense probably damaging 1.00
R0836:Cacna2d4 UTSW 6 119,284,247 (GRCm39) missense probably damaging 1.00
R0884:Cacna2d4 UTSW 6 119,284,247 (GRCm39) missense probably damaging 1.00
R1052:Cacna2d4 UTSW 6 119,277,294 (GRCm39) missense probably damaging 1.00
R1168:Cacna2d4 UTSW 6 119,284,247 (GRCm39) missense probably damaging 1.00
R1170:Cacna2d4 UTSW 6 119,284,247 (GRCm39) missense probably damaging 1.00
R1451:Cacna2d4 UTSW 6 119,213,785 (GRCm39) missense probably benign 0.01
R1564:Cacna2d4 UTSW 6 119,218,156 (GRCm39) missense possibly damaging 0.67
R1809:Cacna2d4 UTSW 6 119,247,785 (GRCm39) missense probably damaging 0.99
R1936:Cacna2d4 UTSW 6 119,247,722 (GRCm39) missense possibly damaging 0.82
R2078:Cacna2d4 UTSW 6 119,315,077 (GRCm39) missense probably benign 0.02
R2198:Cacna2d4 UTSW 6 119,324,220 (GRCm39) splice site probably benign
R2280:Cacna2d4 UTSW 6 119,327,002 (GRCm39) missense possibly damaging 0.85
R3757:Cacna2d4 UTSW 6 119,218,124 (GRCm39) missense probably damaging 0.98
R3975:Cacna2d4 UTSW 6 119,255,134 (GRCm39) splice site probably null
R3976:Cacna2d4 UTSW 6 119,255,134 (GRCm39) splice site probably null
R4238:Cacna2d4 UTSW 6 119,217,669 (GRCm39) missense probably null 1.00
R4591:Cacna2d4 UTSW 6 119,275,425 (GRCm39) missense probably benign 0.02
R4856:Cacna2d4 UTSW 6 119,255,217 (GRCm39) missense possibly damaging 0.90
R4899:Cacna2d4 UTSW 6 119,245,157 (GRCm39) nonsense probably null
R5319:Cacna2d4 UTSW 6 119,324,213 (GRCm39) critical splice donor site probably null
R5351:Cacna2d4 UTSW 6 119,245,162 (GRCm39) missense probably damaging 1.00
R5366:Cacna2d4 UTSW 6 119,251,279 (GRCm39) missense probably damaging 1.00
R5393:Cacna2d4 UTSW 6 119,216,015 (GRCm39) missense probably benign 0.20
R5395:Cacna2d4 UTSW 6 119,248,379 (GRCm39) missense possibly damaging 0.71
R5408:Cacna2d4 UTSW 6 119,325,752 (GRCm39) missense probably damaging 1.00
R5603:Cacna2d4 UTSW 6 119,221,246 (GRCm39) missense probably damaging 1.00
R5661:Cacna2d4 UTSW 6 119,320,492 (GRCm39) missense probably benign
R5898:Cacna2d4 UTSW 6 119,251,192 (GRCm39) missense probably damaging 1.00
R5928:Cacna2d4 UTSW 6 119,258,659 (GRCm39) missense probably benign 0.06
R6186:Cacna2d4 UTSW 6 119,258,650 (GRCm39) missense possibly damaging 0.94
R6218:Cacna2d4 UTSW 6 119,216,021 (GRCm39) missense probably damaging 0.99
R6257:Cacna2d4 UTSW 6 119,258,580 (GRCm39) critical splice acceptor site probably null
R6409:Cacna2d4 UTSW 6 119,259,189 (GRCm39) missense probably damaging 0.99
R6931:Cacna2d4 UTSW 6 119,259,195 (GRCm39) missense possibly damaging 0.49
R7221:Cacna2d4 UTSW 6 119,213,624 (GRCm39) missense probably benign 0.02
R7363:Cacna2d4 UTSW 6 119,320,939 (GRCm39) missense probably damaging 1.00
R7371:Cacna2d4 UTSW 6 119,285,670 (GRCm39) missense probably benign 0.07
R7382:Cacna2d4 UTSW 6 119,216,048 (GRCm39) missense probably damaging 1.00
R7431:Cacna2d4 UTSW 6 119,221,237 (GRCm39) missense probably damaging 0.98
R7517:Cacna2d4 UTSW 6 119,248,882 (GRCm39) missense probably benign 0.01
R7527:Cacna2d4 UTSW 6 119,248,208 (GRCm39) missense probably benign 0.00
R7529:Cacna2d4 UTSW 6 119,247,727 (GRCm39) missense probably benign 0.01
R7710:Cacna2d4 UTSW 6 119,251,200 (GRCm39) missense probably benign 0.05
R7880:Cacna2d4 UTSW 6 119,326,116 (GRCm39) missense probably damaging 0.99
R8007:Cacna2d4 UTSW 6 119,289,405 (GRCm39) missense probably benign
R8084:Cacna2d4 UTSW 6 119,277,313 (GRCm39) missense probably damaging 1.00
R8159:Cacna2d4 UTSW 6 119,274,488 (GRCm39) missense probably benign 0.01
R8391:Cacna2d4 UTSW 6 119,325,706 (GRCm39) missense probably benign 0.04
R8700:Cacna2d4 UTSW 6 119,258,654 (GRCm39) missense probably damaging 1.00
R8857:Cacna2d4 UTSW 6 119,248,909 (GRCm39) nonsense probably null
R8973:Cacna2d4 UTSW 6 119,218,142 (GRCm39) missense probably damaging 1.00
R8976:Cacna2d4 UTSW 6 119,315,118 (GRCm39) missense possibly damaging 0.79
R8998:Cacna2d4 UTSW 6 119,219,876 (GRCm39) missense possibly damaging 0.90
R9129:Cacna2d4 UTSW 6 119,313,415 (GRCm39) critical splice donor site probably null
R9199:Cacna2d4 UTSW 6 119,244,787 (GRCm39) missense probably benign 0.12
R9228:Cacna2d4 UTSW 6 119,248,476 (GRCm39) missense probably benign 0.07
R9310:Cacna2d4 UTSW 6 119,248,914 (GRCm39) critical splice donor site probably null
R9315:Cacna2d4 UTSW 6 119,213,670 (GRCm39) missense probably benign
R9335:Cacna2d4 UTSW 6 119,279,014 (GRCm39) missense probably damaging 1.00
R9416:Cacna2d4 UTSW 6 119,274,479 (GRCm39) missense probably benign 0.06
R9514:Cacna2d4 UTSW 6 119,213,611 (GRCm39) missense probably benign
R9600:Cacna2d4 UTSW 6 119,322,023 (GRCm39) missense probably benign 0.02
RF023:Cacna2d4 UTSW 6 119,245,191 (GRCm39) missense probably benign 0.19
Z1176:Cacna2d4 UTSW 6 119,289,411 (GRCm39) missense probably benign 0.23
Posted On 2013-12-09