Incidental Mutation 'R9416:Cacna1s'
ID 712032
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9416 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 135980549-136047268 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 136022689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 874 (L874Q)
Ref Sequence ENSEMBL: ENSMUSP00000107699 (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: L874Q

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107695
Gene: ENSMUSG00000026407
AA Change: L874Q

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: L874Q

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107699
Gene: ENSMUSG00000026407
AA Change: L874Q

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: L874Q

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125278
Gene: ENSMUSG00000026407
AA Change: L874Q

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 possibly damaging
Transcript: ENSMUST00000161865
AA Change: L627Q

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125262
Gene: ENSMUSG00000026407
AA Change: L627Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C T 4: 86,342,477 (GRCm39) T1672I probably damaging Het
Ahnak T G 19: 8,990,266 (GRCm39) M3850R unknown Het
Cacna2d4 A T 6: 119,274,479 (GRCm39) D622V probably benign Het
Ccdc150 T C 1: 54,317,990 (GRCm39) S310P probably damaging Het
Cecr2 A T 6: 120,735,538 (GRCm39) N148Y Het
Celsr2 T C 3: 108,322,084 (GRCm39) T243A probably damaging Het
Coro1b C T 19: 4,201,473 (GRCm39) T279I probably damaging Het
Cyp51 A G 5: 4,150,198 (GRCm39) I175T probably damaging Het
Dnajc21 T C 15: 10,462,048 (GRCm39) I118V possibly damaging Het
Dtna T C 18: 23,780,112 (GRCm39) probably null Het
Etl4 A G 2: 20,748,784 (GRCm39) K374R probably benign Het
Fance G A 17: 28,537,327 (GRCm39) C53Y probably damaging Het
Gm14496 G T 2: 181,640,647 (GRCm39) C538F probably damaging Het
Gon4l T A 3: 88,803,538 (GRCm39) V1383D probably benign Het
Gpr6 C A 10: 40,946,944 (GRCm39) D213Y possibly damaging Het
Has2 A G 15: 56,531,684 (GRCm39) Y344H probably damaging Het
Kcnh2 A T 5: 24,537,964 (GRCm39) M133K probably benign Het
Kdm5a A G 6: 120,365,056 (GRCm39) H152R probably damaging Het
Klhl33 C T 14: 51,130,225 (GRCm39) R163H probably damaging Het
Lax1 T A 1: 133,611,752 (GRCm39) Q61L probably benign Het
Lct T C 1: 128,228,329 (GRCm39) T1055A possibly damaging Het
Lrrc8c A G 5: 105,756,163 (GRCm39) Y646C possibly damaging Het
Mtarc1 T C 1: 184,527,633 (GRCm39) T274A probably benign Het
Myo1b A G 1: 51,902,577 (GRCm39) V51A probably damaging Het
Naip2 T A 13: 100,298,243 (GRCm39) S598C probably damaging Het
Neb A G 2: 52,137,215 (GRCm39) S250P Het
Nim1k A T 13: 120,189,362 (GRCm39) C16S probably benign Het
Oosp1 T C 19: 11,664,769 (GRCm39) T96A probably damaging Het
Or1e1c T C 11: 73,265,790 (GRCm39) S75P probably damaging Het
Or2q1 G T 6: 42,795,197 (GRCm39) R264L probably benign Het
Or8k17 T A 2: 86,066,744 (GRCm39) Q138L probably damaging Het
Pik3c2b C T 1: 133,005,187 (GRCm39) R563C probably damaging Het
Ppp1r18 CGAGGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGAGGA 17: 36,184,743 (GRCm39) probably benign Het
Prps1l1 T A 12: 35,035,089 (GRCm39) M68K Het
Prr11 A T 11: 86,992,254 (GRCm39) L207* probably null Het
Psme3 T C 11: 101,211,559 (GRCm39) Y202H probably damaging Het
Ptma A G 1: 86,455,694 (GRCm39) S57G unknown Het
Rab24 A G 13: 55,468,049 (GRCm39) V33A unknown Het
Reep6 A G 10: 80,166,091 (GRCm39) T83A probably benign Het
Semp2l2b C T 10: 21,943,752 (GRCm39) R76Q probably benign Het
Shroom4 GCAACAACAACAACAACAACAACAACA GCAACAACAACAACAACAACAACA X: 6,536,131 (GRCm39) probably benign Het
Siglec1 T C 2: 130,925,390 (GRCm39) K357R probably benign Het
Slc2a4 T A 11: 69,836,728 (GRCm39) H167L probably benign Het
Slc8a3 T A 12: 81,361,838 (GRCm39) H327L probably benign Het
Slf1 G A 13: 77,194,656 (GRCm39) L890F Het
Smchd1 A C 17: 71,701,791 (GRCm39) I1067R probably benign Het
Stk33 T A 7: 108,940,689 (GRCm39) N7I probably benign Het
Tex47 T C 5: 7,355,194 (GRCm39) M125T possibly damaging Het
Thada A T 17: 84,766,292 (GRCm39) L38* probably null Het
Thbs1 A G 2: 117,947,983 (GRCm39) D381G probably benign Het
Uggt1 A T 1: 36,203,603 (GRCm39) V1009D Het
Usp17la A T 7: 104,508,531 (GRCm39) probably benign Het
Zfp438 A T 18: 5,214,054 (GRCm39) N301K probably benign Het
Zfp606 T A 7: 12,227,907 (GRCm39) I676N 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
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
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
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'- GGAGTTGGGTAACATGACGTTC -3'
(R):5'- ACATTGTCCCTTTAGCCCAG -3'

Sequencing Primer
(F):5'- GGGTAACATGACGTTCCTTGACAC -3'
(R):5'- GGACCACCCAAGGATGTTC -3'
Posted On 2022-05-16