Incidental Mutation 'R7363:Cacna2d4'
ID 571474
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 045448-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7363 (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 G at 119320939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 917 (Y917C)
Ref Sequence ENSEMBL: ENSMUSP00000140197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037434] [ENSMUST00000186622]
AlphaFold Q5RJF7
Predicted Effect probably damaging
Transcript: ENSMUST00000037434
AA Change: Y942C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: Y942C

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 damaging
Transcript: ENSMUST00000186622
AA Change: Y917C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: Y917C

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (72/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,244,782 (GRCm39) N190I probably damaging Het
Ablim1 G T 19: 57,204,173 (GRCm39) L73I probably benign Het
Adamts4 A T 1: 171,086,608 (GRCm39) Q800L probably benign Het
Atm A T 9: 53,376,598 (GRCm39) I2014N probably damaging Het
Atp2a1 A G 7: 126,062,061 (GRCm39) C12R possibly damaging Het
B3galnt1 A T 3: 69,483,157 (GRCm39) Y35N probably damaging Het
Bnc2 A T 4: 84,210,308 (GRCm39) M687K probably benign Het
Cemip2 T C 19: 21,833,575 (GRCm39) F1338L probably benign Het
Ces2e A G 8: 105,659,632 (GRCm39) probably null Het
Cldn23 A G 8: 36,292,659 (GRCm39) probably null Het
Cntn5 G T 9: 10,172,021 (GRCm39) S54R probably benign Het
Cyria T A 12: 12,390,665 (GRCm39) probably null Het
Dido1 G T 2: 180,304,310 (GRCm39) S1198* probably null Het
Dnah12 A G 14: 26,445,766 (GRCm39) M776V probably benign Het
Dnah14 A G 1: 181,518,089 (GRCm39) probably null Het
Dnttip1 GGGCCGGC GGGC 2: 164,599,605 (GRCm39) probably null Het
Dusp28 A T 1: 92,834,861 (GRCm39) T29S probably benign Het
Erich1 A T 8: 14,083,688 (GRCm39) S127R probably benign Het
Fam151a T A 4: 106,602,681 (GRCm39) L200H probably damaging Het
Fbxw8 A T 5: 118,263,057 (GRCm39) H207Q probably damaging Het
Fgf22 A G 10: 79,592,676 (GRCm39) E116G probably benign Het
Gapvd1 C A 2: 34,602,207 (GRCm39) V647F probably benign Het
Garin4 A T 1: 190,895,910 (GRCm39) S244R probably damaging Het
Gja4 T A 4: 127,206,487 (GRCm39) Y92F probably damaging Het
Gtf3c2 G A 5: 31,327,600 (GRCm39) R288W probably damaging Het
Hira G T 16: 18,716,532 (GRCm39) R99L possibly damaging Het
Ighv16-1 C T 12: 114,032,721 (GRCm39) G27D probably damaging Het
Igkv1-133 C T 6: 67,702,395 (GRCm39) P38S probably benign Het
Igkv4-59 T C 6: 69,415,396 (GRCm39) Y53C probably damaging Het
Il23a T C 10: 128,133,020 (GRCm39) E113G probably damaging Het
Kcnip1 A G 11: 33,584,589 (GRCm39) V188A probably benign Het
L3mbtl3 T C 10: 26,216,850 (GRCm39) K155E unknown Het
Lancl2 T G 6: 57,699,664 (GRCm39) C169G probably benign Het
Lrrc26 A G 2: 25,180,581 (GRCm39) D194G probably benign Het
Lrrfip1 C T 1: 91,050,842 (GRCm39) A545V probably benign Het
Lrtm1 T C 14: 28,743,850 (GRCm39) F106S probably damaging Het
Lypd2 A T 15: 74,604,848 (GRCm39) M49K probably damaging Het
Mbd1 A C 18: 74,406,357 (GRCm39) D63A probably damaging Het
Mdn1 T C 4: 32,691,729 (GRCm39) F990L probably damaging Het
Mtfr1l T C 4: 134,256,577 (GRCm39) E196G probably benign Het
Myh10 A G 11: 68,705,874 (GRCm39) T2007A probably benign Het
Nckap1 G A 2: 80,370,512 (GRCm39) R393C probably damaging Het
Nup205 C T 6: 35,209,508 (GRCm39) T1605M probably benign Het
Or1e33 T C 11: 73,738,741 (GRCm39) D70G probably damaging Het
Or5j3 GTACTTTTT GT 2: 86,128,338 (GRCm39) probably null Het
Pgap2 T A 7: 101,875,467 (GRCm39) probably null Het
Pitrm1 A G 13: 6,619,387 (GRCm39) S741G probably benign Het
Plcd4 A T 1: 74,590,231 (GRCm39) S155C probably null Het
Poc5 A T 13: 96,540,925 (GRCm39) T365S possibly damaging Het
Ppp2r5c G A 12: 110,489,041 (GRCm39) A71T probably benign Het
Prdm6 T A 18: 53,598,199 (GRCm39) I187N possibly damaging Het
Pxk A G 14: 8,152,118 (GRCm38) Q478R probably benign Het
Rgl1 T C 1: 152,394,914 (GRCm39) Y718C probably damaging Het
Ring1 G T 17: 34,243,336 (GRCm39) T2K possibly damaging Het
Sdk1 A G 5: 142,173,897 (GRCm39) S2022G probably benign Het
Sec61a1 C A 6: 88,492,533 (GRCm39) V32F probably benign Het
Sv2b G A 7: 74,797,402 (GRCm39) P331S probably damaging Het
Syne1 T C 10: 5,090,970 (GRCm39) S795G possibly damaging Het
Tmod2 T C 9: 75,484,023 (GRCm39) E309G probably damaging Het
Tpp2 T G 1: 44,024,582 (GRCm39) S987A probably benign Het
Trim75 G C 8: 65,435,539 (GRCm39) H304D probably damaging Het
Trp53bp2 G T 1: 182,272,231 (GRCm39) D447Y probably damaging Het
Ube3a A G 7: 58,936,751 (GRCm39) K697E probably benign Het
Vmn2r13 T A 5: 109,339,909 (GRCm39) H22L probably benign Het
Vmn2r4 G A 3: 64,314,432 (GRCm39) S183F probably damaging Het
Vwa8 T C 14: 79,256,147 (GRCm39) Y721H probably benign Het
Wbp1l C T 19: 46,642,569 (GRCm39) P190L possibly damaging Het
Zcchc4 A T 5: 52,942,510 (GRCm39) Q105L possibly damaging Het
Zfp236 T C 18: 82,639,456 (GRCm39) R1264G probably damaging Het
Zfpm2 T A 15: 40,616,413 (GRCm39) N54K probably damaging Het
Zkscan3 C T 13: 21,571,992 (GRCm39) G547S 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
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
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'- ACAGGGCCTGAAATCATGC -3'
(R):5'- GGACACCACTGTCTTCTCAGTAC -3'

Sequencing Primer
(F):5'- TGCAAACATGGGCATGCC -3'
(R):5'- ATCAGGCCAGAGTCCCAAGG -3'
Posted On 2019-09-13