Incidental Mutation 'R4899:Cacna2d4'
ID 472511
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 042503-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4899 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 119236526-119352407 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 119268196 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 288 (W288*)
Ref Sequence ENSEMBL: ENSMUSP00000140197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037434] [ENSMUST00000186622]
AlphaFold Q5RJF7
Predicted Effect probably null
Transcript: ENSMUST00000037434
AA Change: W288*
SMART Domains Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: W288*

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 noncoding transcript
Transcript: ENSMUST00000186176
Predicted Effect probably null
Transcript: ENSMUST00000186622
AA Change: W288*
SMART Domains Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: W288*

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: ENSMUST00000187222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191331
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010005H15Rik A T 16: 36,257,365 (GRCm38) Y96F possibly damaging Het
9230110C19Rik A T 9: 8,022,493 (GRCm38) S243T possibly damaging Het
Abhd18 C G 3: 40,905,869 (GRCm38) probably null Het
Adra2c A T 5: 35,280,361 (GRCm38) Y159F probably damaging Het
AI481877 T C 4: 59,062,640 (GRCm38) Y872C probably damaging Het
Alkal2 T A 12: 30,884,973 (GRCm38) S64T probably benign Het
Apbb1ip T C 2: 22,823,349 (GRCm38) V72A unknown Het
Atp13a5 A G 16: 29,378,500 (GRCm38) L13P probably damaging Het
Azin2 G A 4: 128,934,653 (GRCm38) P254S probably benign Het
Bmpr1b T C 3: 141,840,683 (GRCm38) R481G probably damaging Het
Cass4 A G 2: 172,427,869 (GRCm38) T626A probably benign Het
Cep112 T A 11: 108,606,284 (GRCm38) D683E probably damaging Het
Chat G T 14: 32,448,977 (GRCm38) S188R possibly damaging Het
Cit A G 5: 115,863,028 (GRCm38) Y162C possibly damaging Het
Clca3a1 T A 3: 144,737,961 (GRCm38) Y676F probably damaging Het
Clec2h A G 6: 128,675,824 (GRCm38) N185D probably benign Het
Cnbd2 G T 2: 156,339,221 (GRCm38) V192F probably benign Het
Col6a3 C A 1: 90,802,427 (GRCm38) G1112V probably damaging Het
Cyp3a25 A G 5: 145,977,671 (GRCm38) F483S possibly damaging Het
Dscam T C 16: 96,683,818 (GRCm38) E1103G probably benign Het
Dync2h1 G A 9: 7,131,921 (GRCm38) Q1629* probably null Het
E330014E10Rik T C 5: 95,801,727 (GRCm38) V111A probably benign Het
Enpp6 A G 8: 46,987,083 (GRCm38) Y38C probably damaging Het
Epg5 T A 18: 77,985,057 (GRCm38) L1271Q probably damaging Het
Fam47e G A 5: 92,574,669 (GRCm38) V75I probably benign Het
Fat3 T C 9: 15,969,799 (GRCm38) D3259G probably damaging Het
Fbxw28 T C 9: 109,330,853 (GRCm38) D211G probably damaging Het
Flnc A G 6: 29,446,843 (GRCm38) N990D probably benign Het
Frat1 T G 19: 41,830,322 (GRCm38) L52R probably damaging Het
Ftmt C G 18: 52,331,586 (GRCm38) probably benign Het
H2-M1 C T 17: 36,671,220 (GRCm38) G163D probably benign Het
Hapln1 A G 13: 89,601,650 (GRCm38) K105E possibly damaging Het
Igkv17-127 G T 6: 67,861,397 (GRCm38) A31S probably benign Het
Il6st T C 13: 112,501,161 (GRCm38) L628P probably damaging Het
Kcnj6 A G 16: 94,832,613 (GRCm38) I213T probably damaging Het
Kidins220 T C 12: 25,013,443 (GRCm38) probably null Het
Lama2 TTTGCGCATT TTT 10: 27,043,643 (GRCm38) probably null Het
Llgl1 C T 11: 60,709,568 (GRCm38) P581L probably benign Het
Marc2 A T 1: 184,845,624 (GRCm38) I65N probably damaging Het
Mertk C A 2: 128,783,925 (GRCm38) P660Q probably damaging Het
Mkl1 A G 15: 81,018,386 (GRCm38) Y241H probably damaging Het
Napepld A G 5: 21,683,440 (GRCm38) Y4H probably benign Het
Ncam1 T A 9: 49,545,251 (GRCm38) probably null Het
Nuak2 A T 1: 132,324,986 (GRCm38) K93* probably null Het
Oat A T 7: 132,564,222 (GRCm38) D211E probably benign Het
Olfr1214 A C 2: 88,988,110 (GRCm38) L31V probably null Het
Olfr1355 A T 10: 78,879,207 (GRCm38) S12C probably benign Het
Olfr171 G A 16: 19,624,200 (GRCm38) A300V probably benign Het
Olfr348 A G 2: 36,786,798 (GRCm38) Q91R probably benign Het
Olfr64 A G 7: 103,893,465 (GRCm38) I90T possibly damaging Het
Pde4dip C A 3: 97,709,558 (GRCm38) K1789N probably damaging Het
Piezo2 T C 18: 63,078,791 (GRCm38) I1322V possibly damaging Het
Pih1d1 A G 7: 45,154,527 (GRCm38) probably benign Het
Plekhd1 T C 12: 80,722,327 (GRCm38) S454P probably damaging Het
Polr2h G A 16: 20,720,553 (GRCm38) V89M probably damaging Het
Pptc7 G A 5: 122,284,717 (GRCm38) G17S possibly damaging Het
Ptpra T C 2: 130,544,436 (GRCm38) V602A probably damaging Het
Rnf123 C T 9: 108,063,680 (GRCm38) R654H probably damaging Het
Rufy4 T C 1: 74,147,663 (GRCm38) C537R probably damaging Het
Samsn1 A G 16: 75,879,103 (GRCm38) S135P probably damaging Het
Sgsm3 A G 15: 81,006,779 (GRCm38) N147S probably benign Het
Slc22a29 T C 19: 8,161,569 (GRCm38) T510A probably benign Het
Smc4 T A 3: 69,031,811 (GRCm38) H978Q probably damaging Het
Sox7 G A 14: 63,948,478 (GRCm38) R321H probably damaging Het
Spred3 T C 7: 29,161,833 (GRCm38) D307G probably damaging Het
Syne2 T A 12: 75,854,101 (GRCm38) D11E probably benign Het
Tob1 ACAGCAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCA 11: 94,214,452 (GRCm38) probably benign Het
Top2b A T 14: 16,387,313 (GRCm38) I134F probably damaging Het
Tspan1 T A 4: 116,163,366 (GRCm38) R206* probably null Het
Ttc3 A T 16: 94,429,455 (GRCm38) N837I probably damaging Het
Vmn1r36 T C 6: 66,716,565 (GRCm38) T72A possibly damaging Het
Vmn2r10 A G 5: 109,003,458 (GRCm38) S97P probably damaging Het
Zfp2 T A 11: 50,900,014 (GRCm38) I401F probably damaging Het
Zfp629 T C 7: 127,611,018 (GRCm38) T540A possibly damaging Het
Zfr G A 15: 12,166,145 (GRCm38) V834I probably benign 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
R3975:Cacna2d4 UTSW 6 119,278,173 (GRCm38) splice site probably null
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
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'- AGGCTTACTTCCAATCTCAGC -3'
(R):5'- TGCAATCTGAGCACAACAATGG -3'

Sequencing Primer
(F):5'- TTACTTCCAATCTCAGCACCCCAG -3'
(R):5'- TATTTTCCCAGAGCAGGTGAGAGC -3'
Posted On 2017-04-14