Incidental Mutation 'R9600:Cacna2d4'
ID 723666
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9600 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 119213487-119329368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119322023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 962 (S962R)
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: S987R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: S987R

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: S962R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: S962R

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: 99.1%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A G 11: 80,261,197 (GRCm39) V210A probably damaging Het
Abcc9 G A 6: 142,536,102 (GRCm39) A1544V possibly damaging Het
Akap6 A G 12: 52,933,341 (GRCm39) T278A probably benign Het
Arfgef1 T A 1: 10,233,977 (GRCm39) I1106F probably benign Het
Armc7 T C 11: 115,367,038 (GRCm39) L61S probably damaging Het
Atp1a3 G A 7: 24,700,027 (GRCm39) T111M probably benign Het
Bltp1 A T 3: 37,095,565 (GRCm39) K1103* probably null Het
Camsap2 T C 1: 136,204,936 (GRCm39) T526A Het
Casq2 A T 3: 102,052,622 (GRCm39) D378V unknown Het
Chst8 C T 7: 34,374,646 (GRCm39) D398N possibly damaging Het
Cmya5 C T 13: 93,226,604 (GRCm39) G2828D probably damaging Het
Cntnap2 T A 6: 45,969,009 (GRCm39) N250K probably damaging Het
Cpne5 T C 17: 29,380,520 (GRCm39) N401D probably damaging Het
Cse1l A G 2: 166,757,119 (GRCm39) N7S probably damaging Het
Cyp4f39 G A 17: 32,705,920 (GRCm39) G337D probably damaging Het
Dera C T 6: 137,814,135 (GRCm39) R308C probably benign Het
Drd5 T A 5: 38,478,174 (GRCm39) I389N possibly damaging Het
F830016B08Rik A G 18: 60,433,237 (GRCm39) T107A probably damaging Het
Fbxw22 C A 9: 109,212,986 (GRCm39) L320F probably damaging Het
Fndc3b G T 3: 27,552,941 (GRCm39) T352K probably damaging Het
Gm36864 T A 7: 43,886,275 (GRCm39) I169K unknown Het
Hdac4 A T 1: 91,889,277 (GRCm39) D749E probably damaging Het
Herc1 C T 9: 66,304,594 (GRCm39) A805V possibly damaging Het
Hrh1 A G 6: 114,457,453 (GRCm39) K245E probably benign Het
Khdc1a A G 1: 21,421,204 (GRCm39) T130A probably benign Het
Lrp5 C G 19: 3,641,712 (GRCm39) A1417P probably benign Het
Macf1 T C 4: 123,365,002 (GRCm39) Q3253R possibly damaging Het
Mdn1 T A 4: 32,684,723 (GRCm39) L811* probably null Het
Mettl8 T C 2: 70,812,383 (GRCm39) D84G possibly damaging Het
Miga1 T G 3: 151,993,186 (GRCm39) T412P probably benign Het
Mtor G T 4: 148,632,092 (GRCm39) R2322L possibly damaging Het
Muc16 T C 9: 18,567,147 (GRCm39) N1791D unknown Het
Myo9b C G 8: 71,743,075 (GRCm39) S45R possibly damaging Het
Nup50l A T 6: 96,142,156 (GRCm39) L296Q possibly damaging Het
Olfm4 T C 14: 80,243,747 (GRCm39) F105S probably damaging Het
Or5af2 A T 11: 58,708,370 (GRCm39) I179F possibly damaging Het
Osbpl1a T C 18: 13,015,277 (GRCm39) I384V probably benign Het
Pcnx1 T C 12: 82,030,435 (GRCm39) L1131P Het
Pex6 T A 17: 47,035,322 (GRCm39) V827E probably damaging Het
Plek A C 11: 16,940,119 (GRCm39) S197A probably benign Het
Pmpca T C 2: 26,282,598 (GRCm39) Y269H probably benign Het
Pop1 T C 15: 34,512,881 (GRCm39) I493T probably benign Het
Rap1gap2 T C 11: 74,283,954 (GRCm39) N615D probably benign Het
Rtp3 T C 9: 110,815,198 (GRCm39) Y389C unknown Het
Rusf1 T A 7: 127,875,676 (GRCm39) D253V possibly damaging Het
Sardh T C 2: 27,120,513 (GRCm39) Q423R probably benign Het
Slc11a1 T C 1: 74,422,688 (GRCm39) probably null Het
Slc5a4b T C 10: 75,896,239 (GRCm39) D572G probably damaging Het
Slco1a8 T G 6: 141,949,234 (GRCm39) probably null Het
Slfn14 A G 11: 83,170,048 (GRCm39) V532A probably benign Het
Spmip10 T C 18: 56,725,450 (GRCm39) W37R probably benign Het
Stxbp1 T C 2: 32,701,120 (GRCm39) Y264C possibly damaging Het
Syce1l T C 8: 114,381,750 (GRCm39) I230T unknown Het
Taf5l T C 8: 124,730,173 (GRCm39) Y172C Het
Trpc4 A T 3: 54,102,248 (GRCm39) K49* probably null Het
Ttc13 A G 8: 125,415,284 (GRCm39) V285A probably benign Het
Ttc17 A T 2: 94,204,890 (GRCm39) L344Q probably damaging Het
Unc79 A G 12: 103,135,972 (GRCm39) H2469R probably benign Het
Xkr7 A G 2: 152,896,393 (GRCm39) I416V probably benign Het
Zeb2 C A 2: 44,987,180 (GRCm39) D35Y unknown Het
Zfp28 A G 7: 6,397,917 (GRCm39) H784R probably benign Het
Zfp644 A C 5: 106,783,909 (GRCm39) S848R probably benign Het
Zfp809 G A 9: 22,150,384 (GRCm39) E294K possibly damaging Het
Zfp820 A G 17: 22,038,861 (GRCm39) Y156H probably benign 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
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
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'- TAGAAGATAGCCTGGCTCCC -3'
(R):5'- CAGAGGTGATGTGACGTCAC -3'

Sequencing Primer
(F):5'- CCTGGCCAAGGGAAGAGG -3'
(R):5'- GTGACGTCACACACAGAGG -3'
Posted On 2022-09-12