Incidental Mutation 'R8998:Cacna2d4'
ID 690280
Institutional Source Beutler Lab
Gene Symbol Cacna2d4
Ensembl Gene ENSMUSG00000041460
Gene Name calcium channel, voltage-dependent, alpha 2/delta subunit 4
Synonyms 5730412N02Rik
MMRRC Submission 068829-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8998 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 119213487-119329368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 119219876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 215 (Q215H)
Ref Sequence ENSEMBL: ENSMUSP00000140197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037434] [ENSMUST00000186622]
AlphaFold Q5RJF7
Predicted Effect possibly damaging
Transcript: ENSMUST00000037434
AA Change: Q215H

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: Q215H

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 possibly damaging
Transcript: ENSMUST00000186622
AA Change: Q215H

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: Q215H

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: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (41/41)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A G 11: 69,033,051 (GRCm39) K575R probably benign Het
Atp10b T A 11: 43,150,726 (GRCm39) *1475R probably null Het
Baz2b T C 2: 59,799,608 (GRCm39) D237G probably benign Het
Capn15 G A 17: 26,182,055 (GRCm39) R651C probably damaging Het
Cby2 T C 14: 75,820,654 (GRCm39) E357G probably damaging Het
Ccdc28b A G 4: 129,516,471 (GRCm39) V29A probably benign Het
Cyb5rl A G 4: 106,938,157 (GRCm39) T170A possibly damaging Het
D330020A13Rik A G 6: 120,271,890 (GRCm39) T189A unknown Het
Emsy C A 7: 98,268,512 (GRCm39) V524F possibly damaging Het
Eppk1 T A 15: 75,980,765 (GRCm39) N3315I probably damaging Het
Erich2 T G 2: 70,361,964 (GRCm39) probably benign Het
Fkbp15 T C 4: 62,242,365 (GRCm39) D529G probably damaging Het
Gbx2 C A 1: 89,856,745 (GRCm39) G215V possibly damaging Het
Gzmd T A 14: 56,368,144 (GRCm39) Y105F possibly damaging Het
Hpse G A 5: 100,840,109 (GRCm39) T336M probably damaging Het
Hrg A G 16: 22,772,455 (GRCm39) D88G probably damaging Het
Kif20b G A 19: 34,914,253 (GRCm39) probably benign Het
Kmt2a A G 9: 44,733,174 (GRCm39) M2381T unknown Het
Krtap5-3 T A 7: 141,755,933 (GRCm39) C257S unknown Het
Met C T 6: 17,491,534 (GRCm39) R99W probably benign Het
Nlrp4b A G 7: 10,449,629 (GRCm39) R611G probably null Het
Or10a3b A C 7: 108,445,017 (GRCm39) S67A probably benign Het
Or4b1d C T 2: 89,969,472 (GRCm39) V4I probably benign Het
Or8b1c T C 9: 38,384,787 (GRCm39) V248A probably benign Het
Or9m1 T A 2: 87,733,189 (GRCm39) Y277F probably damaging Het
Pclo A G 5: 14,727,510 (GRCm39) I2123V unknown Het
Phf10 G C 17: 15,170,883 (GRCm39) A350G probably benign Het
Pira2 T C 7: 3,845,490 (GRCm39) Y298C probably damaging Het
Pkhd1 A T 1: 20,434,425 (GRCm39) Y2338N probably damaging Het
Psme4 C T 11: 30,788,957 (GRCm39) L1120F possibly damaging Het
Safb2 A T 17: 56,870,391 (GRCm39) H934Q possibly damaging Het
Slc4a7 T A 14: 14,775,346 (GRCm38) L884Q probably damaging Het
Smc4 A C 3: 68,934,894 (GRCm39) probably benign Het
Spag16 T C 1: 69,935,706 (GRCm39) V311A probably benign Het
Sprr2j-ps T C 3: 92,326,176 (GRCm39) V17A unknown Het
Tenm3 T C 8: 48,729,722 (GRCm39) Y1428C probably damaging Het
Tent4b A G 8: 88,977,350 (GRCm39) H384R probably benign Het
Treml2 A G 17: 48,609,775 (GRCm39) D69G possibly damaging Het
Ttn T C 2: 76,658,277 (GRCm39) K12368E unknown Het
Usp17le T C 7: 104,417,969 (GRCm39) D391G probably benign Het
Usp28 G A 9: 48,949,139 (GRCm39) R911Q probably benign Het
Wdfy3 A C 5: 101,993,058 (GRCm39) S3274R probably benign Het
Ythdc2 T C 18: 44,997,371 (GRCm39) V976A probably benign Het
Zfp334 A G 2: 165,223,408 (GRCm39) S212P 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
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
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
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'- GTTGCCCTTGAAGCTTCCAC -3'
(R):5'- ACAGAATACTCTACGCTGTGC -3'

Sequencing Primer
(F):5'- ACTCTCGGCCTGACTCC -3'
(R):5'- ACTCTACGCTGTGCAATAATTTC -3'
Posted On 2021-11-19