Incidental Mutation 'R3804:Cacna1s'
ID 274468
Institutional Source Beutler Lab
Gene Symbol Cacna1s
Ensembl Gene ENSMUSG00000026407
Gene Name calcium channel, voltage-dependent, L type, alpha 1S subunit
Synonyms mdg, muscle dysgenesis, sj, Cav1.1, Cchl1a3, DHPR alpha1s, fmd
MMRRC Submission 040879-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3804 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 135980549-136047268 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 136034756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1319 (C1319S)
Ref Sequence ENSEMBL: ENSMUSP00000125278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112064] [ENSMUST00000112068] [ENSMUST00000160641] [ENSMUST00000161865]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000112064
AA Change: C1319S

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107695
Gene: ENSMUSG00000026407
AA Change: C1319S

DomainStartEndE-ValueType
Pfam:Ion_trans 50 345 4.3e-68 PFAM
Pfam:Ion_trans 431 672 4.5e-56 PFAM
Pfam:PKD_channel 516 667 1.9e-7 PFAM
low complexity region 675 685 N/A INTRINSIC
low complexity region 740 756 N/A INTRINSIC
Pfam:Ion_trans 798 1076 2.6e-65 PFAM
Pfam:Ion_trans 1117 1392 1.2e-71 PFAM
Pfam:PKD_channel 1126 1387 8.4e-13 PFAM
Pfam:GPHH 1394 1463 2.3e-38 PFAM
Ca_chan_IQ 1515 1548 3.71e-14 SMART
low complexity region 1657 1669 N/A INTRINSIC
Pfam:CAC1F_C 1756 1845 2.8e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112068
AA Change: C1300S

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107699
Gene: ENSMUSG00000026407
AA Change: C1300S

DomainStartEndE-ValueType
Pfam:Ion_trans 88 333 9.1e-57 PFAM
PDB:4DEY|B 334 417 1e-20 PDB
Pfam:Ion_trans 466 660 3.7e-46 PFAM
Pfam:PKD_channel 513 667 6.7e-7 PFAM
low complexity region 675 685 N/A INTRINSIC
low complexity region 740 756 N/A INTRINSIC
low complexity region 804 818 N/A INTRINSIC
Pfam:Ion_trans 834 1064 3.9e-53 PFAM
Pfam:Ion_trans 1152 1361 6.7e-66 PFAM
Pfam:PKD_channel 1201 1368 8.4e-10 PFAM
Blast:EFh 1382 1410 5e-8 BLAST
Ca_chan_IQ 1496 1529 3.71e-14 SMART
low complexity region 1638 1650 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000160641
AA Change: C1319S

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125278
Gene: ENSMUSG00000026407
AA Change: C1319S

DomainStartEndE-ValueType
Pfam:Ion_trans 88 333 9.3e-57 PFAM
PDB:4DEY|B 334 417 1e-20 PDB
Pfam:Ion_trans 466 660 3.8e-46 PFAM
Pfam:PKD_channel 513 667 6.7e-7 PFAM
low complexity region 675 685 N/A INTRINSIC
low complexity region 740 756 N/A INTRINSIC
low complexity region 804 818 N/A INTRINSIC
Pfam:Ion_trans 834 1064 4e-53 PFAM
Pfam:PKD_channel 1126 1387 6.1e-12 PFAM
Pfam:Ion_trans 1152 1380 9e-65 PFAM
Blast:EFh 1401 1429 5e-8 BLAST
Ca_chan_IQ 1515 1548 3.71e-14 SMART
low complexity region 1657 1669 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161700
Predicted Effect probably benign
Transcript: ENSMUST00000161865
AA Change: C1053S

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125262
Gene: ENSMUSG00000026407
AA Change: C1053S

DomainStartEndE-ValueType
Pfam:Ion_trans 3 98 1.1e-21 PFAM
Pfam:Ion_trans 184 425 3.3e-56 PFAM
Pfam:PKD_channel 267 420 1.8e-7 PFAM
low complexity region 428 438 N/A INTRINSIC
low complexity region 493 509 N/A INTRINSIC
Pfam:Ion_trans 551 829 1.9e-65 PFAM
Pfam:Ion_trans 870 1126 5.4e-72 PFAM
Pfam:PKD_channel 954 1121 7.2e-10 PFAM
Pfam:GPHH 1128 1197 1.8e-38 PFAM
Ca_chan_IQ 1249 1282 3.71e-14 SMART
low complexity region 1391 1403 N/A INTRINSIC
Meta Mutation Damage Score 0.4479 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show edema and failure of myoblast differentiation by day 13 of embryonic development and die perinatally. All muscles degenerate and additional secondary anomalies of the skeleton, short jaw, and cleft palate are seen. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(3) Spontaneous(1)

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik C T 8: 79,974,922 (GRCm39) E54K probably benign Het
Adgra1 A G 7: 139,425,510 (GRCm39) T8A probably benign Het
Alms1 A G 6: 85,596,629 (GRCm39) Y954C probably damaging Het
AU021092 A C 16: 5,034,626 (GRCm39) F199V possibly damaging Het
Bahcc1 C T 11: 120,174,184 (GRCm39) P1648L probably benign Het
Capn13 G A 17: 73,646,396 (GRCm39) P339L probably benign Het
Ccdc39 A T 3: 33,874,044 (GRCm39) M596K probably damaging Het
Cfap418 A G 4: 10,898,014 (GRCm39) T199A probably benign Het
Cntn5 A G 9: 9,781,668 (GRCm39) probably benign Het
Cyth4 A G 15: 78,494,002 (GRCm39) K159E probably damaging Het
Dgkz C A 2: 91,769,975 (GRCm39) R563L probably benign Het
Dnah8 A G 17: 30,889,621 (GRCm39) E718G probably benign Het
Dop1a T C 9: 86,403,048 (GRCm39) L1416P probably damaging Het
Dstyk G A 1: 132,377,464 (GRCm39) A110T probably damaging Het
Eif1 A G 11: 100,211,650 (GRCm39) K95E probably damaging Het
Espnl A G 1: 91,249,943 (GRCm39) D30G probably benign Het
Gast T C 11: 100,227,636 (GRCm39) S73P probably damaging Het
Gmppb T C 9: 107,927,773 (GRCm39) Y176H probably damaging Het
Grap2 A G 15: 80,507,947 (GRCm39) T4A possibly damaging Het
Grm8 T G 6: 28,125,635 (GRCm39) N164H possibly damaging Het
Gstm3 G A 3: 107,871,551 (GRCm39) T210I probably benign Het
Gtf3c3 A G 1: 54,463,166 (GRCm39) probably null Het
Hmcn2 A G 2: 31,242,897 (GRCm39) probably null Het
Icam2 A G 11: 106,271,648 (GRCm39) L94P probably damaging Het
Iqcm C A 8: 76,396,021 (GRCm39) T188K possibly damaging Het
Jarid2 T A 13: 45,056,307 (GRCm39) N365K probably benign Het
Kank4 A G 4: 98,668,370 (GRCm39) S26P probably damaging Het
Lgr4 A G 2: 109,838,542 (GRCm39) K498E probably benign Het
Meltf A G 16: 31,703,816 (GRCm39) H181R probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nf1 A G 11: 79,450,347 (GRCm39) D511G probably null Het
Nhlrc3 A G 3: 53,366,052 (GRCm39) V147A possibly damaging Het
Nrap C T 19: 56,310,211 (GRCm39) D1595N probably damaging Het
Or1e16 T C 11: 73,286,776 (GRCm39) Q24R probably benign Het
Or5p4 A T 7: 107,680,378 (GRCm39) I126F probably damaging Het
Or6c212 T A 10: 129,558,918 (GRCm39) D165V possibly damaging Het
Or6n2 T A 1: 173,897,474 (GRCm39) N203K probably damaging Het
Pak3 G A X: 142,492,727 (GRCm39) V87I probably damaging Het
Pgm2l1 T C 7: 99,901,474 (GRCm39) V121A probably benign Het
Phf19 A G 2: 34,789,670 (GRCm39) L350P probably damaging Het
Phf8 T C X: 150,355,572 (GRCm39) S512P possibly damaging Het
Phkb G T 8: 86,648,858 (GRCm39) E225* probably null Het
Pif1 T A 9: 65,495,588 (GRCm39) V166E probably damaging Het
Plaa T C 4: 94,458,125 (GRCm39) D615G probably damaging Het
Prpf4b T C 13: 35,067,665 (GRCm39) probably benign Het
Rxra T C 2: 27,646,272 (GRCm39) C374R probably damaging Het
Septin3 T C 15: 82,170,630 (GRCm39) probably benign Het
Skint4 G T 4: 111,975,378 (GRCm39) V113L probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc22a15 C T 3: 101,804,590 (GRCm39) G145D probably damaging Het
Slc28a1 A T 7: 80,775,969 (GRCm39) I222F probably damaging Het
Slc43a2 T C 11: 75,454,424 (GRCm39) L323P probably benign Het
Sorbs3 A G 14: 70,436,800 (GRCm39) probably benign Het
Spink10 C T 18: 62,786,485 (GRCm39) probably benign Het
Suclg2 A T 6: 95,474,649 (GRCm39) I372N probably damaging Het
Sun1 C A 5: 139,211,117 (GRCm39) C164* probably null Het
Tax1bp1 T C 6: 52,719,770 (GRCm39) F453L probably benign Het
Tmem54 A G 4: 129,002,013 (GRCm39) N9S probably benign Het
Tmx4 A G 2: 134,462,497 (GRCm39) W145R probably damaging Het
Top1 A G 2: 160,544,688 (GRCm39) H268R probably damaging Het
Ttn A G 2: 76,641,075 (GRCm39) L13598P probably damaging Het
Vmn1r40 A G 6: 89,691,991 (GRCm39) I269M probably benign Het
Wdr7 G T 18: 63,853,907 (GRCm39) R80L probably benign Het
Zap70 A T 1: 36,810,223 (GRCm39) Q111L possibly damaging Het
Zfp808 T A 13: 62,319,897 (GRCm39) H375Q probably damaging Het
Zkscan2 A T 7: 123,094,365 (GRCm39) probably benign Het
Other mutations in Cacna1s
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Cacna1s APN 1 136,012,011 (GRCm39) nonsense probably null
IGL00517:Cacna1s APN 1 136,015,077 (GRCm39) missense probably damaging 1.00
IGL01316:Cacna1s APN 1 136,046,702 (GRCm39) missense probably benign 0.01
IGL01348:Cacna1s APN 1 136,002,890 (GRCm39) missense possibly damaging 0.95
IGL01739:Cacna1s APN 1 136,024,870 (GRCm39) critical splice donor site probably null
IGL01773:Cacna1s APN 1 136,046,491 (GRCm39) missense probably benign 0.32
IGL02056:Cacna1s APN 1 136,046,738 (GRCm39) missense probably benign
IGL02262:Cacna1s APN 1 136,035,867 (GRCm39) missense probably damaging 0.98
IGL02324:Cacna1s APN 1 136,002,914 (GRCm39) splice site probably benign
IGL02352:Cacna1s APN 1 136,020,990 (GRCm39) splice site probably benign
IGL02359:Cacna1s APN 1 136,020,990 (GRCm39) splice site probably benign
IGL02370:Cacna1s APN 1 136,013,085 (GRCm39) missense probably damaging 1.00
IGL02377:Cacna1s APN 1 135,996,732 (GRCm39) missense probably damaging 1.00
IGL02474:Cacna1s APN 1 136,046,118 (GRCm39) missense probably benign
IGL02606:Cacna1s APN 1 136,007,257 (GRCm39) missense probably damaging 0.99
IGL02833:Cacna1s APN 1 135,998,743 (GRCm39) missense probably benign 0.03
IGL02974:Cacna1s APN 1 136,020,355 (GRCm39) missense possibly damaging 0.78
IGL03064:Cacna1s APN 1 136,039,731 (GRCm39) missense probably damaging 1.00
IGL03093:Cacna1s APN 1 136,043,802 (GRCm39) missense probably benign 0.00
IGL03286:Cacna1s APN 1 136,005,397 (GRCm39) missense probably benign
brookstone UTSW 1 136,020,432 (GRCm39) missense probably benign 0.01
flyfish UTSW 1 136,043,799 (GRCm39) missense probably benign 0.21
forelle UTSW 1 136,023,596 (GRCm39) missense probably damaging 0.99
river UTSW 1 136,033,582 (GRCm39) missense possibly damaging 0.88
stream UTSW 1 136,033,552 (GRCm39) missense probably damaging 1.00
BB009:Cacna1s UTSW 1 136,012,097 (GRCm39) missense probably damaging 0.99
BB019:Cacna1s UTSW 1 136,012,097 (GRCm39) missense probably damaging 0.99
G1Funyon:Cacna1s UTSW 1 136,001,179 (GRCm39) unclassified probably benign
N/A:Cacna1s UTSW 1 136,001,247 (GRCm39) missense probably benign 0.00
R0030:Cacna1s UTSW 1 136,022,727 (GRCm39) critical splice donor site probably null
R0030:Cacna1s UTSW 1 136,022,727 (GRCm39) critical splice donor site probably null
R0097:Cacna1s UTSW 1 136,028,360 (GRCm39) missense possibly damaging 0.79
R0097:Cacna1s UTSW 1 136,028,360 (GRCm39) missense possibly damaging 0.79
R0240:Cacna1s UTSW 1 136,001,234 (GRCm39) unclassified probably benign
R0255:Cacna1s UTSW 1 136,046,544 (GRCm39) missense possibly damaging 0.93
R0302:Cacna1s UTSW 1 136,028,342 (GRCm39) missense probably benign 0.01
R0319:Cacna1s UTSW 1 135,998,455 (GRCm39) missense probably damaging 0.99
R0411:Cacna1s UTSW 1 136,041,041 (GRCm39) missense probably damaging 1.00
R0413:Cacna1s UTSW 1 136,025,947 (GRCm39) missense probably benign 0.00
R0482:Cacna1s UTSW 1 136,041,132 (GRCm39) missense probably benign
R0491:Cacna1s UTSW 1 136,016,746 (GRCm39) splice site probably benign
R0518:Cacna1s UTSW 1 136,004,597 (GRCm39) missense probably benign
R0717:Cacna1s UTSW 1 136,026,029 (GRCm39) missense probably damaging 1.00
R0725:Cacna1s UTSW 1 136,026,264 (GRCm39) splice site probably benign
R0815:Cacna1s UTSW 1 136,040,695 (GRCm39) missense possibly damaging 0.95
R1384:Cacna1s UTSW 1 136,022,709 (GRCm39) missense probably benign 0.02
R1518:Cacna1s UTSW 1 136,026,289 (GRCm39) missense probably damaging 1.00
R1548:Cacna1s UTSW 1 136,038,675 (GRCm39) missense probably damaging 1.00
R1725:Cacna1s UTSW 1 136,026,361 (GRCm39) missense probably damaging 1.00
R1728:Cacna1s UTSW 1 136,046,454 (GRCm39) missense probably benign
R1729:Cacna1s UTSW 1 136,046,454 (GRCm39) missense probably benign
R1730:Cacna1s UTSW 1 136,046,454 (GRCm39) missense probably benign
R1739:Cacna1s UTSW 1 136,046,454 (GRCm39) missense probably benign
R1762:Cacna1s UTSW 1 136,046,454 (GRCm39) missense probably benign
R1783:Cacna1s UTSW 1 136,046,454 (GRCm39) missense probably benign
R1784:Cacna1s UTSW 1 136,046,454 (GRCm39) missense probably benign
R1785:Cacna1s UTSW 1 136,046,454 (GRCm39) missense probably benign
R1800:Cacna1s UTSW 1 136,004,592 (GRCm39) missense probably benign
R1924:Cacna1s UTSW 1 136,016,755 (GRCm39) splice site probably null
R1969:Cacna1s UTSW 1 136,046,833 (GRCm39) missense probably benign 0.42
R2072:Cacna1s UTSW 1 136,007,242 (GRCm39) missense probably benign
R2380:Cacna1s UTSW 1 136,023,586 (GRCm39) missense probably damaging 1.00
R3110:Cacna1s UTSW 1 136,002,831 (GRCm39) nonsense probably null
R3112:Cacna1s UTSW 1 136,002,831 (GRCm39) nonsense probably null
R3151:Cacna1s UTSW 1 136,033,532 (GRCm39) missense probably damaging 1.00
R3696:Cacna1s UTSW 1 136,033,552 (GRCm39) missense probably damaging 1.00
R3722:Cacna1s UTSW 1 135,996,780 (GRCm39) missense possibly damaging 0.77
R3813:Cacna1s UTSW 1 136,013,085 (GRCm39) missense probably damaging 1.00
R3905:Cacna1s UTSW 1 136,012,007 (GRCm39) missense probably damaging 0.99
R3907:Cacna1s UTSW 1 136,012,007 (GRCm39) missense probably damaging 0.99
R3909:Cacna1s UTSW 1 136,012,007 (GRCm39) missense probably damaging 0.99
R4170:Cacna1s UTSW 1 136,035,933 (GRCm39) missense probably damaging 1.00
R4329:Cacna1s UTSW 1 136,046,771 (GRCm39) missense probably benign 0.00
R4485:Cacna1s UTSW 1 136,004,590 (GRCm39) missense probably damaging 1.00
R4581:Cacna1s UTSW 1 135,998,708 (GRCm39) splice site probably null
R4719:Cacna1s UTSW 1 136,046,390 (GRCm39) splice site probably benign
R4816:Cacna1s UTSW 1 136,043,007 (GRCm39) missense possibly damaging 0.89
R4909:Cacna1s UTSW 1 136,007,342 (GRCm39) missense probably damaging 0.99
R4917:Cacna1s UTSW 1 136,029,302 (GRCm39) critical splice donor site probably null
R5296:Cacna1s UTSW 1 136,023,523 (GRCm39) missense probably benign 0.11
R5411:Cacna1s UTSW 1 136,033,549 (GRCm39) missense probably benign 0.09
R5503:Cacna1s UTSW 1 136,014,480 (GRCm39) missense probably damaging 1.00
R5533:Cacna1s UTSW 1 136,026,113 (GRCm39) critical splice donor site probably null
R5714:Cacna1s UTSW 1 136,039,804 (GRCm39) missense probably benign 0.44
R5775:Cacna1s UTSW 1 136,035,860 (GRCm39) missense probably damaging 1.00
R5814:Cacna1s UTSW 1 136,034,880 (GRCm39) missense probably benign 0.31
R5820:Cacna1s UTSW 1 136,007,342 (GRCm39) missense probably damaging 1.00
R5822:Cacna1s UTSW 1 136,039,816 (GRCm39) missense probably damaging 1.00
R5877:Cacna1s UTSW 1 136,028,405 (GRCm39) missense probably damaging 0.99
R5923:Cacna1s UTSW 1 136,004,560 (GRCm39) missense possibly damaging 0.79
R6021:Cacna1s UTSW 1 136,034,225 (GRCm39) missense probably benign 0.15
R6037:Cacna1s UTSW 1 135,998,705 (GRCm39) missense possibly damaging 0.90
R6037:Cacna1s UTSW 1 135,998,705 (GRCm39) missense possibly damaging 0.90
R6056:Cacna1s UTSW 1 136,033,574 (GRCm39) missense probably damaging 1.00
R6143:Cacna1s UTSW 1 136,004,496 (GRCm39) missense probably damaging 0.99
R6222:Cacna1s UTSW 1 136,032,360 (GRCm39) missense probably benign 0.00
R6237:Cacna1s UTSW 1 136,033,582 (GRCm39) missense possibly damaging 0.88
R6274:Cacna1s UTSW 1 136,016,783 (GRCm39) missense probably benign 0.02
R6609:Cacna1s UTSW 1 136,041,129 (GRCm39) missense probably benign 0.30
R6626:Cacna1s UTSW 1 136,022,703 (GRCm39) missense probably damaging 1.00
R6838:Cacna1s UTSW 1 136,012,175 (GRCm39) missense possibly damaging 0.91
R6848:Cacna1s UTSW 1 136,020,432 (GRCm39) missense probably benign 0.01
R6849:Cacna1s UTSW 1 136,020,432 (GRCm39) missense probably benign 0.01
R6850:Cacna1s UTSW 1 136,020,432 (GRCm39) missense probably benign 0.01
R6851:Cacna1s UTSW 1 136,020,432 (GRCm39) missense probably benign 0.01
R6868:Cacna1s UTSW 1 136,020,432 (GRCm39) missense probably benign 0.01
R6879:Cacna1s UTSW 1 136,043,697 (GRCm39) missense probably benign 0.12
R6893:Cacna1s UTSW 1 136,005,431 (GRCm39) missense probably benign 0.05
R7017:Cacna1s UTSW 1 136,023,596 (GRCm39) missense probably damaging 0.99
R7228:Cacna1s UTSW 1 135,998,797 (GRCm39) missense possibly damaging 0.90
R7283:Cacna1s UTSW 1 136,001,446 (GRCm39) missense probably damaging 1.00
R7357:Cacna1s UTSW 1 135,998,759 (GRCm39) missense probably damaging 0.99
R7385:Cacna1s UTSW 1 136,020,371 (GRCm39) missense probably damaging 0.99
R7421:Cacna1s UTSW 1 136,014,540 (GRCm39) missense probably damaging 1.00
R7505:Cacna1s UTSW 1 136,013,187 (GRCm39) nonsense probably null
R7519:Cacna1s UTSW 1 135,998,494 (GRCm39) missense probably damaging 0.99
R7675:Cacna1s UTSW 1 136,038,612 (GRCm39) missense probably damaging 1.00
R7746:Cacna1s UTSW 1 135,996,756 (GRCm39) missense probably damaging 0.99
R7779:Cacna1s UTSW 1 136,046,767 (GRCm39) missense probably damaging 1.00
R7850:Cacna1s UTSW 1 135,998,786 (GRCm39) missense probably damaging 1.00
R7932:Cacna1s UTSW 1 136,012,097 (GRCm39) missense probably damaging 0.99
R7935:Cacna1s UTSW 1 136,020,333 (GRCm39) missense possibly damaging 0.62
R7950:Cacna1s UTSW 1 136,028,363 (GRCm39) missense probably benign 0.01
R7969:Cacna1s UTSW 1 136,004,470 (GRCm39) missense probably damaging 1.00
R8083:Cacna1s UTSW 1 136,023,529 (GRCm39) missense possibly damaging 0.91
R8101:Cacna1s UTSW 1 136,046,403 (GRCm39) missense probably benign 0.02
R8123:Cacna1s UTSW 1 136,035,917 (GRCm39) missense probably damaging 1.00
R8191:Cacna1s UTSW 1 136,035,893 (GRCm39) missense probably damaging 1.00
R8194:Cacna1s UTSW 1 136,005,430 (GRCm39) missense probably benign 0.33
R8251:Cacna1s UTSW 1 136,014,461 (GRCm39) missense probably damaging 1.00
R8265:Cacna1s UTSW 1 136,020,364 (GRCm39) nonsense probably null
R8301:Cacna1s UTSW 1 136,001,179 (GRCm39) unclassified probably benign
R8310:Cacna1s UTSW 1 136,015,075 (GRCm39) missense probably damaging 1.00
R8359:Cacna1s UTSW 1 136,043,799 (GRCm39) missense probably benign 0.21
R8461:Cacna1s UTSW 1 136,001,440 (GRCm39) missense possibly damaging 0.53
R8553:Cacna1s UTSW 1 136,019,540 (GRCm39) missense possibly damaging 0.93
R8743:Cacna1s UTSW 1 136,033,286 (GRCm39) missense probably damaging 1.00
R8766:Cacna1s UTSW 1 136,002,881 (GRCm39) missense probably damaging 1.00
R8884:Cacna1s UTSW 1 136,042,981 (GRCm39) missense probably benign 0.05
R8897:Cacna1s UTSW 1 136,045,392 (GRCm39) missense probably benign 0.01
R8939:Cacna1s UTSW 1 136,014,544 (GRCm39) critical splice donor site probably null
R8953:Cacna1s UTSW 1 136,025,170 (GRCm39) missense possibly damaging 0.94
R9039:Cacna1s UTSW 1 136,016,057 (GRCm39) missense probably benign
R9058:Cacna1s UTSW 1 135,998,436 (GRCm39) nonsense probably null
R9137:Cacna1s UTSW 1 135,996,744 (GRCm39) missense possibly damaging 0.89
R9332:Cacna1s UTSW 1 136,020,452 (GRCm39) nonsense probably null
R9416:Cacna1s UTSW 1 136,022,689 (GRCm39) missense possibly damaging 0.88
R9427:Cacna1s UTSW 1 136,012,090 (GRCm39) missense probably benign 0.30
R9446:Cacna1s UTSW 1 136,045,362 (GRCm39) missense probably benign 0.00
R9564:Cacna1s UTSW 1 136,046,516 (GRCm39) missense probably benign
R9620:Cacna1s UTSW 1 136,035,909 (GRCm39) missense probably damaging 1.00
X0025:Cacna1s UTSW 1 136,043,708 (GRCm39) missense probably benign 0.00
Z1176:Cacna1s UTSW 1 136,034,822 (GRCm39) nonsense probably null
Z1177:Cacna1s UTSW 1 136,045,424 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAAGTTGCCCTCACTCCAAG -3'
(R):5'- CAGACTTCTCACCAGGAAGG -3'

Sequencing Primer
(F):5'- GCCCTGCATTTAAACAAACGTTGG -3'
(R):5'- TTCTCACCAGGAAGGCGCAG -3'
Posted On 2015-04-02