Incidental Mutation 'R9129:Cacna2d4'
ID 693466
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 # R9129 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 119213487-119329368 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 119313415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037434] [ENSMUST00000186622]
AlphaFold Q5RJF7
Predicted Effect probably benign
Transcript: ENSMUST00000037434
SMART Domains Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460

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
SMART Domains Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460

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: 99.0%
Validation Efficiency 99% (68/69)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,523,223 (GRCm39) S1238P probably damaging Het
Akap9 T C 5: 4,119,089 (GRCm39) L3532S probably benign Het
Ankfn1 A G 11: 89,312,042 (GRCm39) L701P Het
Aph1b A C 9: 66,686,595 (GRCm39) I225S probably benign Het
Asic4 A T 1: 75,446,469 (GRCm39) H337L possibly damaging Het
Atp8b3 T C 10: 80,368,412 (GRCm39) E187G probably damaging Het
Atp9a A G 2: 168,517,205 (GRCm39) M376T probably benign Het
Bod1l G T 5: 41,976,220 (GRCm39) T1698K probably damaging Het
Catsper1 C A 19: 5,390,402 (GRCm39) probably benign Het
Cd248 T C 19: 5,120,140 (GRCm39) S663P probably benign Het
Crispld2 A T 8: 120,737,488 (GRCm39) M80L possibly damaging Het
Cwc22 G A 2: 77,726,659 (GRCm39) Q807* probably null Het
Cyp2a4 T C 7: 26,014,136 (GRCm39) Y438H probably benign Het
Cyp2b23 A T 7: 26,381,189 (GRCm39) probably benign Het
Dsp T A 13: 38,377,126 (GRCm39) V1637D probably benign Het
Elovl1 A T 4: 118,289,156 (GRCm39) Y227F possibly damaging Het
Ern1 T C 11: 106,300,946 (GRCm39) K483E probably benign Het
Fzd2 T C 11: 102,496,465 (GRCm39) F303S probably benign Het
Gm9944 A T 4: 144,179,763 (GRCm39) V42D unknown Het
Grik5 G A 7: 24,767,429 (GRCm39) probably benign Het
Hdac4 T C 1: 91,909,929 (GRCm39) D445G probably benign Het
Hinfp C T 9: 44,209,062 (GRCm39) R352H probably damaging Het
Hrnr A G 3: 93,231,277 (GRCm39) H505R unknown Het
Hsfy2 C T 1: 56,675,752 (GRCm39) D262N probably benign Het
Hspa4 G A 11: 53,174,463 (GRCm39) Q186* probably null Het
Ipo8 T C 6: 148,700,125 (GRCm39) H584R probably benign Het
Krtap8-1 T A 16: 89,284,636 (GRCm39) R54* probably null Het
Lama4 T A 10: 38,932,887 (GRCm39) Y588N probably benign Het
Lekr1 T A 3: 65,591,426 (GRCm39) Y54* probably null Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Lypd10 A G 7: 24,413,170 (GRCm39) D163G probably benign Het
Lzts3 A T 2: 130,476,865 (GRCm39) Y528N possibly damaging Het
Mdn1 T A 4: 32,676,812 (GRCm39) V628E probably benign Het
Mgat5b A C 11: 116,859,348 (GRCm39) probably benign Het
Mical2 A C 7: 111,870,589 (GRCm39) K26T possibly damaging Het
Mllt10 C T 2: 18,167,404 (GRCm39) S443L probably benign Het
Mtf1 G A 4: 124,698,913 (GRCm39) probably benign Het
Myom2 T C 8: 15,154,068 (GRCm39) F669L probably damaging Het
Nlrp9c A T 7: 26,077,428 (GRCm39) probably null Het
Nog G C 11: 89,192,602 (GRCm39) S82W probably damaging Het
Ntrk2 A G 13: 59,276,084 (GRCm39) T795A probably benign Het
Or4a78 A G 2: 89,497,930 (GRCm39) F100S probably damaging Het
Or56a3b G A 7: 104,771,223 (GRCm39) M186I probably benign Het
Or5m3 A T 2: 85,838,356 (GRCm39) M79L Het
Or5w17 A T 2: 87,584,048 (GRCm39) F96L probably benign Het
Pira12 C A 7: 3,898,500 (GRCm39) probably null Het
Prl6a1 A T 13: 27,502,064 (GRCm39) I144L Het
Rab11fip5 A G 6: 85,317,892 (GRCm39) V999A probably benign Het
Serpinb6b TTGTTTCTGT TTGT 13: 33,162,139 (GRCm39) probably benign Het
Shisa6 A G 11: 66,110,853 (GRCm39) M296T probably benign Het
Slc18a1 T A 8: 69,491,533 (GRCm39) T494S probably benign Het
Slc22a29 T G 19: 8,146,669 (GRCm39) I378L probably benign Het
Slc23a2 C T 2: 131,920,332 (GRCm39) probably null Het
Slc2a7 G T 4: 150,243,001 (GRCm39) R274L probably benign Het
Spta1 A G 1: 174,058,911 (GRCm39) T1949A possibly damaging Het
Szt2 A G 4: 118,221,866 (GRCm39) V3339A unknown Het
Tcp10a G A 17: 7,593,935 (GRCm39) D87N probably benign Het
Tgm5 T G 2: 120,877,270 (GRCm39) Q638P probably damaging Het
Tmem145 A G 7: 25,014,265 (GRCm39) T460A possibly damaging Het
Ttc3 A T 16: 94,185,208 (GRCm39) M50L probably benign Het
Ush1c A G 7: 45,854,629 (GRCm39) S708P probably benign Het
Vmn1r217 T A 13: 23,298,876 (GRCm39) T9S probably benign Het
Vmn1r26 T C 6: 57,985,373 (GRCm39) Y272C Het
Vmn1r75 G T 7: 11,614,513 (GRCm39) A82S probably benign Het
Vmn2r117 T A 17: 23,678,918 (GRCm39) R769* probably null Het
Vps13b C A 15: 35,448,793 (GRCm39) A589E probably damaging Het
Vps13d G A 4: 144,898,249 (GRCm39) R304W Het
Vps41 A G 13: 19,011,775 (GRCm39) E294G probably benign Het
Xpo7 T C 14: 70,909,113 (GRCm39) T802A probably benign Het
Ylpm1 T A 12: 85,104,052 (GRCm39) D2022E Het
Zfp433 T A 10: 81,555,724 (GRCm39) C75* probably null Het
Zyg11a A T 4: 108,039,009 (GRCm39) S737T 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
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'- TCACCAGAGACTCAGCCTTC -3'
(R):5'- GGTCTGATCAGGGACAAGAC -3'

Sequencing Primer
(F):5'- AGCTCAGCCGCTGTGATAAG -3'
(R):5'- TCTGATCAGGGACAAGACACTGG -3'
Posted On 2022-01-20