Incidental Mutation 'R7710:Cacna2d4'
ID 594531
Institutional Source Beutler Lab
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 # R7710 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 119213487-119329368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119251200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 463 (I463V)
Ref Sequence ENSEMBL: ENSMUSP00000140197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037434] [ENSMUST00000186622]
AlphaFold Q5RJF7
Predicted Effect probably benign
Transcript: ENSMUST00000037434
AA Change: I463V

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: I463V

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 benign
Transcript: ENSMUST00000186622
AA Change: I463V

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: I463V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,150,810 (GRCm39) E151K Het
Ap3b1 T C 13: 94,587,581 (GRCm39) S452P probably damaging Het
Calhm4 A T 10: 33,920,045 (GRCm39) M74K possibly damaging Het
Ccdc142 T C 6: 83,078,677 (GRCm39) S5P probably benign Het
Cd300ld C T 11: 114,875,038 (GRCm39) V199M probably damaging Het
Cep162 T C 9: 87,114,172 (GRCm39) Y300C probably damaging Het
Ces2h C T 8: 105,727,497 (GRCm39) Q5* probably null Het
Col9a3 C T 2: 180,251,158 (GRCm39) L310F probably damaging Het
Copa A G 1: 171,937,411 (GRCm39) D454G possibly damaging Het
Ctnnbip1 A C 4: 149,630,277 (GRCm39) M29L probably benign Het
Ctnnbl1 A G 2: 157,616,491 (GRCm39) D64G probably benign Het
Dcxr T A 11: 120,617,908 (GRCm39) T23S probably benign Het
Dennd1b T A 1: 138,990,670 (GRCm39) H211Q probably damaging Het
Ercc8 G A 13: 108,320,397 (GRCm39) A328T probably benign Het
Fam217a T C 13: 35,095,111 (GRCm39) D216G possibly damaging Het
Fat2 T A 11: 55,201,589 (GRCm39) Y495F probably benign Het
Fbxw13 G A 9: 109,024,968 (GRCm39) S15F probably damaging Het
Fras1 T A 5: 96,792,962 (GRCm39) C964* probably null Het
Fshr T A 17: 89,292,683 (GRCm39) H665L probably benign Het
Gm10447 A T 11: 53,347,437 (GRCm39) C31S unknown Het
Gm13272 A T 4: 88,698,586 (GRCm39) Q167L probably benign Het
Gtpbp2 T C 17: 46,478,713 (GRCm39) I510T possibly damaging Het
Hps6 G A 19: 45,993,007 (GRCm39) A315T probably benign Het
Igfbp6 A C 15: 102,056,285 (GRCm39) T115P probably damaging Het
Ikzf4 A G 10: 128,468,610 (GRCm39) V623A possibly damaging Het
Il11ra1 T C 4: 41,764,846 (GRCm39) V100A probably benign Het
Ints1 T C 5: 139,756,840 (GRCm39) T493A probably benign Het
Itgax C T 7: 127,735,028 (GRCm39) T453I probably benign Het
Kras T C 6: 145,166,354 (GRCm39) T183A probably benign Het
Lhcgr T C 17: 89,050,210 (GRCm39) T439A probably damaging Het
Lrrn4 T C 2: 132,721,451 (GRCm39) H122R probably benign Het
Muc2 A T 7: 141,287,452 (GRCm39) R210S possibly damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Myo18b T C 5: 113,022,891 (GRCm39) D167G unknown Het
Nedd8 G A 14: 55,909,446 (GRCm39) probably benign Het
Or5b94 A C 19: 12,652,340 (GRCm39) Y257S probably damaging Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Pbxip1 T A 3: 89,355,408 (GRCm39) D642E probably damaging Het
Pcdhb10 A T 18: 37,546,654 (GRCm39) R577* probably null Het
Pcna-ps2 T A 19: 9,261,489 (GRCm39) Y249* probably null Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pla2g6 A T 15: 79,171,358 (GRCm39) V744E probably damaging Het
Ppfibp1 A G 6: 146,897,903 (GRCm39) I207V probably benign Het
Prr11 T C 11: 86,994,433 (GRCm39) D71G probably benign Het
Rnf150 A C 8: 83,590,781 (GRCm39) Y48S probably damaging Het
Rsf1 G A 7: 97,331,041 (GRCm39) G1237D Het
Rusc2 C T 4: 43,416,119 (GRCm39) T475I probably benign Het
Scgb1b20 T A 7: 33,072,867 (GRCm39) I25N probably damaging Het
Sdr39u1 T C 14: 56,137,116 (GRCm39) N65S probably benign Het
Sh3gl3 T C 7: 81,933,294 (GRCm39) V219A possibly damaging Het
Shcbp1 A G 8: 4,814,965 (GRCm39) F171S probably benign Het
Shq1 A G 6: 100,648,006 (GRCm39) F6S probably damaging Het
Slc12a4 C T 8: 106,672,203 (GRCm39) R868H possibly damaging Het
Smg6 T C 11: 74,821,445 (GRCm39) V572A probably benign Het
Syn3 A G 10: 86,243,534 (GRCm39) V135A probably damaging Het
Tars3 A T 7: 65,314,717 (GRCm39) D425V probably benign Het
Tmem253 A T 14: 52,254,608 (GRCm39) Q21L possibly damaging Het
Trpm3 G T 19: 22,896,154 (GRCm39) R997L probably damaging Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Ugt1a9 A G 1: 87,998,831 (GRCm39) T94A probably benign Het
Vmn1r62 A G 7: 5,678,182 (GRCm39) probably benign Het
Vmn2r61 T C 7: 41,916,472 (GRCm39) C362R probably damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp94 T C 7: 24,003,107 (GRCm39) K112E probably benign Het
Zfp954 A T 7: 7,120,889 (GRCm39) V47E probably 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
IGL01576:Cacna2d4 APN 6 119,258,602 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- AGCAGAGAAGGCCTTTCTTTG -3'
(R):5'- GCACAACGTTAGACTCTCCG -3'

Sequencing Primer
(F):5'- TGTCTTGTACTAGGAGACAAGGC -3'
(R):5'- GTTAGACTCTCCGGACCAAGATGTC -3'
Posted On 2019-11-12