Incidental Mutation 'R3975:Cacna2d4'
ID 312598
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 040939-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3975 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 119236526-119352407 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 119278173 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037434] [ENSMUST00000037434] [ENSMUST00000186622]
AlphaFold Q5RJF7
Predicted Effect probably null
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: 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 benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190015
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency 95% (59/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 T A 1: 63,547,729 (GRCm38) Y416* probably null Het
Akr1b10 G T 6: 34,392,496 (GRCm38) probably null Het
Arap2 G T 5: 62,748,894 (GRCm38) P261T possibly damaging Het
Bckdha C A 7: 25,631,433 (GRCm38) D53Y probably damaging Het
Bfsp2 A G 9: 103,480,072 (GRCm38) V52A probably benign Het
Bola3 T C 6: 83,351,267 (GRCm38) L45P probably benign Het
Ceacam16 C A 7: 19,853,612 (GRCm38) Q410H probably damaging Het
Cenpe A G 3: 135,235,225 (GRCm38) probably null Het
Cenpe T C 3: 135,238,472 (GRCm38) probably null Het
Clca1 A T 3: 145,032,639 (GRCm38) V36D probably damaging Het
Copa T A 1: 172,121,245 (GRCm38) S1155T probably benign Het
Crb2 C A 2: 37,793,668 (GRCm38) P1061T possibly damaging Het
Crot T C 5: 8,977,541 (GRCm38) T264A probably benign Het
Cyp51 C T 5: 4,091,877 (GRCm38) G346S probably damaging Het
Dnah6 A G 6: 73,121,992 (GRCm38) S2027P possibly damaging Het
Fam129a T C 1: 151,649,335 (GRCm38) Y164H probably damaging Het
Fbxo18 T C 2: 11,767,210 (GRCm38) H220R possibly damaging Het
Gdf2 T A 14: 33,944,834 (GRCm38) V171D probably damaging Het
Gm9825 A T 6: 7,983,149 (GRCm38) noncoding transcript Het
Golgb1 T G 16: 36,918,571 (GRCm38) V2424G probably damaging Het
Gpbp1l1 T C 4: 116,570,985 (GRCm38) probably null Het
Gpx6 C A 13: 21,317,658 (GRCm38) S150Y probably damaging Het
Greb1l A G 18: 10,522,247 (GRCm38) N672S possibly damaging Het
Kcnma1 C T 14: 24,003,747 (GRCm38) probably null Het
Lrba T C 3: 86,351,255 (GRCm38) F1350L probably damaging Het
Nat8f4 A G 6: 85,901,070 (GRCm38) V157A possibly damaging Het
Nt5dc2 T C 14: 31,138,875 (GRCm38) S439P probably damaging Het
Olfr1090 T A 2: 86,754,543 (GRCm38) H65L probably damaging Het
Olfr134 A G 17: 38,175,495 (GRCm38) N137S probably benign Het
Olfr141 G A 2: 86,806,460 (GRCm38) P180S possibly damaging Het
Olfr693 T C 7: 106,677,785 (GRCm38) R234G probably damaging Het
Orm3 A T 4: 63,356,158 (GRCm38) probably null Het
Otof A G 5: 30,370,712 (GRCm38) L1929P probably damaging Het
Pex5l C A 3: 33,015,015 (GRCm38) C111F probably damaging Het
Plcl1 T A 1: 55,698,215 (GRCm38) M905K probably benign Het
Prdm6 T C 18: 53,540,206 (GRCm38) I186T possibly damaging Het
Rara T G 11: 98,970,569 (GRCm38) I236S probably damaging Het
Reln A T 5: 21,995,366 (GRCm38) S1379T possibly damaging Het
Rp1l1 T A 14: 64,030,309 (GRCm38) Y1115N probably damaging Het
Rpe65 A T 3: 159,604,585 (GRCm38) N135I probably damaging Het
Rps6 A G 4: 86,856,813 (GRCm38) V18A probably benign Het
Scrn3 T C 2: 73,335,777 (GRCm38) S385P possibly damaging Het
Sis T C 3: 72,943,635 (GRCm38) T577A probably damaging Het
Slx1b G A 7: 126,691,807 (GRCm38) L239F probably damaging Het
Smad4 G T 18: 73,677,736 (GRCm38) T59K possibly damaging Het
Smad6 A G 9: 64,020,930 (GRCm38) V32A probably benign Het
Smc6 T A 12: 11,274,074 (GRCm38) F73L probably damaging Het
Sorbs2 T C 8: 45,772,710 (GRCm38) probably null Het
Svbp T A 4: 119,195,893 (GRCm38) F32I probably benign Het
Tap1 C A 17: 34,189,567 (GRCm38) probably benign Het
Tesk1 C T 4: 43,445,786 (GRCm38) P280S possibly damaging Het
Thrb A G 14: 18,033,456 (GRCm38) I406M probably damaging Het
Tsc22d1 T C 14: 76,418,609 (GRCm38) S761P probably damaging Het
Ttn T C 2: 76,876,653 (GRCm38) probably benign Het
Umodl1 C A 17: 30,984,789 (GRCm38) Y525* probably null Het
Vmn2r70 C T 7: 85,559,332 (GRCm38) V646I probably benign Het
Wipf1 C T 2: 73,437,169 (GRCm38) G295D probably benign Het
Wisp3 C G 10: 39,155,098 (GRCm38) C143S probably damaging Het
Zim1 A T 7: 6,677,130 (GRCm38) H511Q probably damaging Het
Other mutations in Cacna2d4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Cacna2d4 APN 6 119,337,933 (GRCm38) splice site probably benign
IGL00469:Cacna2d4 APN 6 119,268,278 (GRCm38) missense probably damaging 1.00
IGL00518:Cacna2d4 APN 6 119,343,575 (GRCm38) missense probably damaging 1.00
IGL00946:Cacna2d4 APN 6 119,271,915 (GRCm38) missense possibly damaging 0.82
IGL01447:Cacna2d4 APN 6 119,242,904 (GRCm38) missense probably damaging 1.00
IGL01514:Cacna2d4 APN 6 119,282,173 (GRCm38) splice site probably benign
IGL01576:Cacna2d4 APN 6 119,281,641 (GRCm38) nonsense probably null
IGL01934:Cacna2d4 APN 6 119,308,768 (GRCm38) missense probably damaging 1.00
IGL02231:Cacna2d4 APN 6 119,277,908 (GRCm38) splice site probably benign
IGL02516:Cacna2d4 APN 6 119,271,870 (GRCm38) splice site probably benign
IGL02688:Cacna2d4 APN 6 119,270,749 (GRCm38) splice site probably null
IGL03110:Cacna2d4 APN 6 119,236,737 (GRCm38) missense probably benign 0.05
IGL03365:Cacna2d4 APN 6 119,271,264 (GRCm38) missense probably benign 0.15
saccharine UTSW 6 119,345,106 (GRCm38) splice site probably benign
Steveo UTSW 6 119,347,252 (GRCm38) critical splice donor site probably null
Sussmann UTSW 6 119,274,318 (GRCm38) missense probably damaging 1.00
R0139:Cacna2d4 UTSW 6 119,278,269 (GRCm38) intron probably benign
R0157:Cacna2d4 UTSW 6 119,312,424 (GRCm38) missense probably benign 0.00
R0158:Cacna2d4 UTSW 6 119,236,748 (GRCm38) missense possibly damaging 0.68
R0245:Cacna2d4 UTSW 6 119,308,721 (GRCm38) missense probably damaging 1.00
R0612:Cacna2d4 UTSW 6 119,281,718 (GRCm38) splice site probably benign
R0659:Cacna2d4 UTSW 6 119,345,106 (GRCm38) splice site probably benign
R0722:Cacna2d4 UTSW 6 119,307,286 (GRCm38) missense probably damaging 1.00
R0743:Cacna2d4 UTSW 6 119,307,286 (GRCm38) missense probably damaging 1.00
R0833:Cacna2d4 UTSW 6 119,307,286 (GRCm38) missense probably damaging 1.00
R0835:Cacna2d4 UTSW 6 119,307,286 (GRCm38) missense probably damaging 1.00
R0836:Cacna2d4 UTSW 6 119,307,286 (GRCm38) missense probably damaging 1.00
R0884:Cacna2d4 UTSW 6 119,307,286 (GRCm38) missense probably damaging 1.00
R1052:Cacna2d4 UTSW 6 119,300,333 (GRCm38) missense probably damaging 1.00
R1168:Cacna2d4 UTSW 6 119,307,286 (GRCm38) missense probably damaging 1.00
R1170:Cacna2d4 UTSW 6 119,307,286 (GRCm38) missense probably damaging 1.00
R1451:Cacna2d4 UTSW 6 119,236,824 (GRCm38) missense probably benign 0.01
R1564:Cacna2d4 UTSW 6 119,241,195 (GRCm38) missense possibly damaging 0.67
R1809:Cacna2d4 UTSW 6 119,270,824 (GRCm38) missense probably damaging 0.99
R1936:Cacna2d4 UTSW 6 119,270,761 (GRCm38) missense possibly damaging 0.82
R2078:Cacna2d4 UTSW 6 119,338,116 (GRCm38) missense probably benign 0.02
R2198:Cacna2d4 UTSW 6 119,347,259 (GRCm38) splice site probably benign
R2280:Cacna2d4 UTSW 6 119,350,041 (GRCm38) missense possibly damaging 0.85
R3757:Cacna2d4 UTSW 6 119,241,163 (GRCm38) missense probably damaging 0.98
R3976:Cacna2d4 UTSW 6 119,278,173 (GRCm38) splice site probably null
R4238:Cacna2d4 UTSW 6 119,240,708 (GRCm38) missense probably null 1.00
R4591:Cacna2d4 UTSW 6 119,298,464 (GRCm38) missense probably benign 0.02
R4856:Cacna2d4 UTSW 6 119,278,256 (GRCm38) missense possibly damaging 0.90
R4899:Cacna2d4 UTSW 6 119,268,196 (GRCm38) nonsense probably null
R5319:Cacna2d4 UTSW 6 119,347,252 (GRCm38) critical splice donor site probably null
R5351:Cacna2d4 UTSW 6 119,268,201 (GRCm38) missense probably damaging 1.00
R5366:Cacna2d4 UTSW 6 119,274,318 (GRCm38) missense probably damaging 1.00
R5393:Cacna2d4 UTSW 6 119,239,054 (GRCm38) missense probably benign 0.20
R5395:Cacna2d4 UTSW 6 119,271,418 (GRCm38) missense possibly damaging 0.71
R5408:Cacna2d4 UTSW 6 119,348,791 (GRCm38) missense probably damaging 1.00
R5603:Cacna2d4 UTSW 6 119,244,285 (GRCm38) missense probably damaging 1.00
R5661:Cacna2d4 UTSW 6 119,343,531 (GRCm38) missense probably benign
R5898:Cacna2d4 UTSW 6 119,274,231 (GRCm38) missense probably damaging 1.00
R5928:Cacna2d4 UTSW 6 119,281,698 (GRCm38) missense probably benign 0.06
R6186:Cacna2d4 UTSW 6 119,281,689 (GRCm38) missense possibly damaging 0.94
R6218:Cacna2d4 UTSW 6 119,239,060 (GRCm38) missense probably damaging 0.99
R6257:Cacna2d4 UTSW 6 119,281,619 (GRCm38) critical splice acceptor site probably null
R6409:Cacna2d4 UTSW 6 119,282,228 (GRCm38) missense probably damaging 0.99
R6931:Cacna2d4 UTSW 6 119,282,234 (GRCm38) missense possibly damaging 0.49
R7221:Cacna2d4 UTSW 6 119,236,663 (GRCm38) missense probably benign 0.02
R7363:Cacna2d4 UTSW 6 119,343,978 (GRCm38) missense probably damaging 1.00
R7371:Cacna2d4 UTSW 6 119,308,709 (GRCm38) missense probably benign 0.07
R7382:Cacna2d4 UTSW 6 119,239,087 (GRCm38) missense probably damaging 1.00
R7431:Cacna2d4 UTSW 6 119,244,276 (GRCm38) missense probably damaging 0.98
R7517:Cacna2d4 UTSW 6 119,271,921 (GRCm38) missense probably benign 0.01
R7527:Cacna2d4 UTSW 6 119,271,247 (GRCm38) missense probably benign 0.00
R7529:Cacna2d4 UTSW 6 119,270,766 (GRCm38) missense probably benign 0.01
R7710:Cacna2d4 UTSW 6 119,274,239 (GRCm38) missense probably benign 0.05
R7880:Cacna2d4 UTSW 6 119,349,155 (GRCm38) missense probably damaging 0.99
R8007:Cacna2d4 UTSW 6 119,312,444 (GRCm38) missense probably benign
R8084:Cacna2d4 UTSW 6 119,300,352 (GRCm38) missense probably damaging 1.00
R8159:Cacna2d4 UTSW 6 119,297,527 (GRCm38) missense probably benign 0.01
R8391:Cacna2d4 UTSW 6 119,348,745 (GRCm38) missense probably benign 0.04
R8700:Cacna2d4 UTSW 6 119,281,693 (GRCm38) missense probably damaging 1.00
R8857:Cacna2d4 UTSW 6 119,271,948 (GRCm38) nonsense probably null
R8973:Cacna2d4 UTSW 6 119,241,181 (GRCm38) missense probably damaging 1.00
R8976:Cacna2d4 UTSW 6 119,338,157 (GRCm38) missense possibly damaging 0.79
R8998:Cacna2d4 UTSW 6 119,242,915 (GRCm38) missense possibly damaging 0.90
R9129:Cacna2d4 UTSW 6 119,336,454 (GRCm38) critical splice donor site probably null
R9199:Cacna2d4 UTSW 6 119,267,826 (GRCm38) missense probably benign 0.12
R9228:Cacna2d4 UTSW 6 119,271,515 (GRCm38) missense probably benign 0.07
R9310:Cacna2d4 UTSW 6 119,271,953 (GRCm38) critical splice donor site probably null
R9315:Cacna2d4 UTSW 6 119,236,709 (GRCm38) missense probably benign
R9335:Cacna2d4 UTSW 6 119,302,053 (GRCm38) missense probably damaging 1.00
R9416:Cacna2d4 UTSW 6 119,297,518 (GRCm38) missense probably benign 0.06
R9514:Cacna2d4 UTSW 6 119,236,650 (GRCm38) missense probably benign
R9600:Cacna2d4 UTSW 6 119,345,062 (GRCm38) missense probably benign 0.02
RF023:Cacna2d4 UTSW 6 119,268,230 (GRCm38) missense probably benign 0.19
Z1176:Cacna2d4 UTSW 6 119,312,450 (GRCm38) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- CCCGATATAAGGTGAGCCTGAG -3'
(R):5'- GACCGTCGAGTTTCCTCTTG -3'

Sequencing Primer
(F):5'- GGATGGTACCTAAGCCACAGC -3'
(R):5'- CTTGTATGATCTGAGGAATTTTAGCC -3'
Posted On 2015-04-30