Incidental Mutation 'R0815:Cacna1s'
ID 78553
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 038995-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0815 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 135980549-136047268 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 136040695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1231 (I1231F)
Ref Sequence ENSEMBL: ENSMUSP00000125262 (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: I1497F

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107695
Gene: ENSMUSG00000026407
AA Change: I1497F

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: I1478F

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107699
Gene: ENSMUSG00000026407
AA Change: I1478F

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 noncoding transcript
Transcript: ENSMUST00000159106
Predicted Effect possibly damaging
Transcript: ENSMUST00000160641
AA Change: I1497F

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125278
Gene: ENSMUSG00000026407
AA Change: I1497F

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 possibly damaging
Transcript: ENSMUST00000161865
AA Change: I1231F

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125262
Gene: ENSMUSG00000026407
AA Change: I1231F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194155
Meta Mutation Damage Score 0.1690 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,865,184 (GRCm39) probably benign Het
Abcf2 A T 5: 24,772,268 (GRCm39) Y487N probably damaging Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Atp2a2 T C 5: 122,609,299 (GRCm39) I188V probably benign Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Celsr2 G T 3: 108,308,617 (GRCm39) T1770K possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Dpp10 A G 1: 123,360,658 (GRCm39) probably null Het
Dscaml1 A G 9: 45,656,372 (GRCm39) I1571V probably benign Het
Eif3j2 T A 18: 43,610,036 (GRCm39) Y259F probably benign Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fbxo21 T C 5: 118,133,573 (GRCm39) probably benign Het
Frmd8 A T 19: 5,915,084 (GRCm39) probably benign Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Lipm A T 19: 34,096,161 (GRCm39) T326S probably benign Het
Lrrc8c T C 5: 105,756,400 (GRCm39) L725P probably damaging Het
Map3k19 A G 1: 127,762,375 (GRCm39) probably benign Het
Med31 T A 11: 72,104,657 (GRCm39) N50I probably damaging Het
Myo15b T G 11: 115,757,162 (GRCm39) probably benign Het
Nemp1 T C 10: 127,528,893 (GRCm39) L199S probably damaging Het
Nod2 G A 8: 89,399,290 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or2ak6 A G 11: 58,593,435 (GRCm39) R303G possibly damaging Het
Or5b21 A G 19: 12,840,008 (GRCm39) I290V probably benign Het
Parva G A 7: 112,167,071 (GRCm39) V215M probably damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Rbm11 C T 16: 75,393,525 (GRCm39) R74C probably damaging Het
Robo3 A G 9: 37,333,479 (GRCm39) V744A probably damaging Het
Rsbn1 T G 3: 103,861,469 (GRCm39) S522A probably damaging Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sec31b G A 19: 44,506,612 (GRCm39) Q909* probably null Het
Slc38a11 T A 2: 65,184,124 (GRCm39) I176L possibly damaging Het
Slc39a4 C T 15: 76,496,839 (GRCm39) D574N probably damaging Het
Slc44a1 T G 4: 53,536,421 (GRCm39) V199G possibly damaging Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Son C A 16: 91,452,372 (GRCm39) A373D probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Speg A G 1: 75,392,036 (GRCm39) Y1606C probably damaging Het
Srgap1 A T 10: 121,621,379 (GRCm39) V1061D probably damaging Het
Stat5a A G 11: 100,765,908 (GRCm39) probably null Het
Supt4a T A 11: 87,628,409 (GRCm39) probably benign Het
Teddm1b A G 1: 153,750,638 (GRCm39) K149R possibly damaging Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Upp2 A G 2: 58,661,568 (GRCm39) T144A probably benign Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R possibly damaging 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
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
R3804:Cacna1s UTSW 1 136,034,756 (GRCm39) missense possibly damaging 0.85
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'- TGGAGTACAGCAGCTACCACAAAAG -3'
(R):5'- TGCTGAAGTGTTGAGTGGACACC -3'

Sequencing Primer
(F):5'- GAACACTGAGCCAGGGTATG -3'
(R):5'- GAGTGGACACCTTTCACCCTG -3'
Posted On 2013-10-16