Incidental Mutation 'R1992:Cacna1b'
ID 223542
Institutional Source Beutler Lab
Gene Symbol Cacna1b
Ensembl Gene ENSMUSG00000004113
Gene Name calcium channel, voltage-dependent, N type, alpha 1B subunit
Synonyms alpha(1B), Cav2.2, Cchn1a
MMRRC Submission 040003-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1992 (G1)
Quality Score 195
Status Not validated
Chromosome 2
Chromosomal Location 24493899-24653164 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24622318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 222 (P222L)
Ref Sequence ENSEMBL: ENSMUSP00000110090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041342] [ENSMUST00000070864] [ENSMUST00000100348] [ENSMUST00000102939] [ENSMUST00000114447]
AlphaFold O55017
Predicted Effect probably damaging
Transcript: ENSMUST00000041342
AA Change: P222L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113
AA Change: P222L

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Ion_trans 133 355 1.2e-57 PFAM
PDB:4DEX|B 358 467 8e-66 PDB
Pfam:Ion_trans 516 708 1.1e-47 PFAM
Pfam:PKD_channel 569 715 2.3e-7 PFAM
low complexity region 728 739 N/A INTRINSIC
low complexity region 849 858 N/A INTRINSIC
low complexity region 903 913 N/A INTRINSIC
low complexity region 916 933 N/A INTRINSIC
low complexity region 1091 1102 N/A INTRINSIC
Pfam:Ion_trans 1174 1408 2.7e-52 PFAM
Pfam:Ion_trans 1498 1698 1.2e-59 PFAM
Pfam:PKD_channel 1551 1705 8.1e-9 PFAM
Ca_chan_IQ 1837 1871 1.09e-11 SMART
low complexity region 2040 2050 N/A INTRINSIC
low complexity region 2092 2114 N/A INTRINSIC
low complexity region 2276 2292 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000070864
AA Change: P222L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113
AA Change: P222L

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Ion_trans 133 355 1.4e-57 PFAM
PDB:4DEX|B 358 467 8e-66 PDB
Pfam:Ion_trans 516 708 1.2e-47 PFAM
Pfam:PKD_channel 569 715 1.5e-7 PFAM
low complexity region 728 739 N/A INTRINSIC
low complexity region 848 857 N/A INTRINSIC
low complexity region 902 912 N/A INTRINSIC
low complexity region 915 932 N/A INTRINSIC
low complexity region 1090 1101 N/A INTRINSIC
Pfam:Ion_trans 1173 1403 1.8e-52 PFAM
Pfam:Ion_trans 1493 1695 5.4e-60 PFAM
Pfam:PKD_channel 1544 1702 4.9e-9 PFAM
Ca_chan_IQ 1798 1832 7.2e-12 SMART
low complexity region 2001 2011 N/A INTRINSIC
low complexity region 2053 2075 N/A INTRINSIC
low complexity region 2237 2253 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100348
AA Change: P222L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113
AA Change: P222L

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Ion_trans 133 355 1.4e-57 PFAM
PDB:4DEX|B 358 468 5e-68 PDB
Pfam:Ion_trans 517 709 1.2e-47 PFAM
Pfam:PKD_channel 570 716 1.6e-7 PFAM
low complexity region 729 740 N/A INTRINSIC
low complexity region 850 859 N/A INTRINSIC
low complexity region 904 914 N/A INTRINSIC
low complexity region 917 934 N/A INTRINSIC
low complexity region 1092 1103 N/A INTRINSIC
Pfam:Ion_trans 1175 1409 3.2e-52 PFAM
Pfam:Ion_trans 1499 1699 1.4e-59 PFAM
Pfam:PKD_channel 1552 1706 5.6e-9 PFAM
Ca_chan_IQ 1838 1872 1.09e-11 SMART
low complexity region 2041 2051 N/A INTRINSIC
low complexity region 2093 2115 N/A INTRINSIC
low complexity region 2277 2293 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102939
AA Change: P222L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113
AA Change: P222L

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Ion_trans 133 355 1.4e-57 PFAM
PDB:4DEX|B 358 467 1e-65 PDB
Pfam:Ion_trans 516 708 1.2e-47 PFAM
Pfam:PKD_channel 569 715 1.6e-7 PFAM
low complexity region 728 739 N/A INTRINSIC
low complexity region 849 858 N/A INTRINSIC
low complexity region 903 913 N/A INTRINSIC
low complexity region 916 933 N/A INTRINSIC
low complexity region 1091 1102 N/A INTRINSIC
Pfam:Ion_trans 1174 1404 1.9e-52 PFAM
Pfam:Ion_trans 1494 1696 5.5e-60 PFAM
Pfam:PKD_channel 1545 1703 5e-9 PFAM
Ca_chan_IQ 1835 1869 1.09e-11 SMART
low complexity region 2038 2048 N/A INTRINSIC
low complexity region 2090 2112 N/A INTRINSIC
low complexity region 2274 2290 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114447
AA Change: P222L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113
AA Change: P222L

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Ion_trans 94 367 8.5e-69 PFAM
Pfam:Ion_trans 482 721 2.4e-57 PFAM
Pfam:PKD_channel 571 715 1e-7 PFAM
low complexity region 729 740 N/A INTRINSIC
low complexity region 850 859 N/A INTRINSIC
low complexity region 904 914 N/A INTRINSIC
low complexity region 917 934 N/A INTRINSIC
low complexity region 1092 1103 N/A INTRINSIC
Pfam:Ion_trans 1139 1421 1.3e-62 PFAM
Pfam:Ion_trans 1464 1711 3.2e-64 PFAM
Pfam:PKD_channel 1550 1706 2.7e-9 PFAM
Pfam:GPHH 1713 1783 1.9e-39 PFAM
Ca_chan_IQ 1838 1872 1.09e-11 SMART
low complexity region 2041 2051 N/A INTRINSIC
low complexity region 2093 2115 N/A INTRINSIC
low complexity region 2277 2293 N/A INTRINSIC
Meta Mutation Damage Score 0.9272 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice deficient in this gene exhibit defects in nociception, memory and learning. They also exhibit hyperactive and hyperaggressive behaviors as well as defects in the the sleep-wake cycle. Deficits in the sympathetic nervous system results in defects in circulatory regulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 123 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T C 1: 138,781,380 (GRCm39) T90A probably damaging Het
A930011G23Rik T C 5: 99,381,784 (GRCm39) D326G possibly damaging Het
Abcc2 A T 19: 43,795,581 (GRCm39) I446F probably damaging Het
Adam34l T C 8: 44,080,176 (GRCm39) K16R probably benign Het
Adamts14 A G 10: 61,034,439 (GRCm39) Y1150H probably benign Het
Adgrl2 A G 3: 148,522,880 (GRCm39) I217T possibly damaging Het
Afap1l1 A T 18: 61,874,842 (GRCm39) Y446* probably null Het
Aimp2 G A 5: 143,843,548 (GRCm39) A14V probably damaging Het
Akap8 G A 17: 32,535,586 (GRCm39) H143Y probably damaging Het
Aldh2 A T 5: 121,714,026 (GRCm39) V207E possibly damaging Het
Aoc1l2 T A 6: 48,907,703 (GRCm39) H234Q probably damaging Het
Armc3 T C 2: 19,297,953 (GRCm39) Y575H probably damaging Het
Arpp21 T C 9: 111,986,861 (GRCm39) E230G probably damaging Het
Arrdc3 G A 13: 81,031,808 (GRCm39) D14N probably damaging Het
Atn1 A G 6: 124,722,291 (GRCm39) probably benign Het
Atxn7l1 G A 12: 33,408,743 (GRCm39) D302N probably damaging Het
Bbs1 T A 19: 4,941,736 (GRCm39) H518L probably benign Het
Bltp1 A T 3: 37,054,181 (GRCm39) H3100L probably benign Het
Bmpr1a C A 14: 34,147,050 (GRCm39) G241C probably damaging Het
Calcrl T C 2: 84,200,855 (GRCm39) Y63C probably damaging Het
Cand2 A G 6: 115,762,093 (GRCm39) H173R possibly damaging Het
Cap2 T A 13: 46,791,357 (GRCm39) Y175N possibly damaging Het
Card14 A T 11: 119,212,647 (GRCm39) probably null Het
Cd3d T A 9: 44,896,299 (GRCm39) Y29* probably null Het
Cd4 A G 6: 124,844,651 (GRCm39) V378A possibly damaging Het
Cluh A T 11: 74,550,828 (GRCm39) H318L probably damaging Het
Clvs1 T A 4: 9,281,899 (GRCm39) D114E probably benign Het
Cnot4 T A 6: 35,000,344 (GRCm39) T548S probably benign Het
Col18a1 T C 10: 76,916,988 (GRCm39) I114V unknown Het
Cr2 G A 1: 194,836,458 (GRCm39) P1278S possibly damaging Het
Crebbp A T 16: 3,946,561 (GRCm39) probably null Het
Dnah7a T G 1: 53,621,835 (GRCm39) K1097Q possibly damaging Het
Doc2a T A 7: 126,450,979 (GRCm39) probably null Het
Dpp10 A T 1: 123,832,833 (GRCm39) V48E probably null Het
Dsg2 A G 18: 20,734,530 (GRCm39) K836R probably damaging Het
Egr2 T C 10: 67,375,857 (GRCm39) V164A probably damaging Het
Erbin A T 13: 103,970,221 (GRCm39) S1132T probably benign Het
Espn T A 4: 152,213,012 (GRCm39) probably null Het
Fam83b A G 9: 76,399,304 (GRCm39) S600P probably benign Het
Fanca A T 8: 124,024,551 (GRCm39) N425K possibly damaging Het
Flot2 C T 11: 77,949,445 (GRCm39) L294F probably damaging Het
Frs2 A G 10: 116,910,459 (GRCm39) V301A probably benign Het
Fv1 T A 4: 147,953,618 (GRCm39) N61K possibly damaging Het
Fxr2 A G 11: 69,540,659 (GRCm39) E339G possibly damaging Het
Gck T C 11: 5,856,515 (GRCm39) Y214C probably damaging Het
Golga3 C G 5: 110,340,839 (GRCm39) T551R probably damaging Het
Gorab A G 1: 163,224,625 (GRCm39) S59P probably damaging Het
Gsdme C T 6: 50,185,102 (GRCm39) V451M probably damaging Het
H2-T13 A C 17: 36,391,938 (GRCm39) I216S probably damaging Het
Herc4 T A 10: 63,081,743 (GRCm39) V22E possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hoxa2 A T 6: 52,141,576 (GRCm39) S17T probably damaging Het
Hs3st5 A G 10: 36,708,882 (GRCm39) Y139C probably damaging Het
Ism1 G A 2: 139,587,937 (GRCm39) V221I probably benign Het
Kalrn T G 16: 33,796,108 (GRCm39) L1222F probably damaging Het
Katnip A G 7: 125,419,261 (GRCm39) N476S probably benign Het
Kdm4c A G 4: 74,261,631 (GRCm39) D602G possibly damaging Het
Ktn1 A G 14: 47,932,978 (GRCm39) K711E probably damaging Het
Lce1k A T 3: 92,714,125 (GRCm39) C20S unknown Het
Macf1 A G 4: 123,350,488 (GRCm39) S3792P probably damaging Het
Maml3 C T 3: 51,598,178 (GRCm39) M189I probably benign Het
Mcc C A 18: 44,624,382 (GRCm39) E213* probably null Het
Mep1a T G 17: 43,813,573 (GRCm39) I13L probably benign Het
Mkrn2 G T 6: 115,586,562 (GRCm39) C16F probably damaging Het
Mlh1 C T 9: 111,057,631 (GRCm39) A727T probably damaging Het
Muc21 A T 17: 35,929,600 (GRCm39) S1529T probably benign Het
Naa16 T C 14: 79,593,931 (GRCm39) Y344C probably damaging Het
Nebl T A 2: 17,457,321 (GRCm39) I80F probably damaging Het
Nlrc4 T A 17: 74,752,628 (GRCm39) Y585F probably benign Het
Nrcam A G 12: 44,587,753 (GRCm39) K149R probably damaging Het
Nufip1 T A 14: 76,372,287 (GRCm39) I467N probably damaging Het
Nup133 A G 8: 124,632,960 (GRCm39) I1057T possibly damaging Het
Obscn A T 11: 58,886,653 (GRCm39) probably benign Het
Or10ag52 T A 2: 87,043,588 (GRCm39) C117* probably null Het
Or5k1 A G 16: 58,617,309 (GRCm39) V300A probably benign Het
Or5k14 A C 16: 58,692,874 (GRCm39) I213R probably benign Het
Pi4k2a A T 19: 42,104,377 (GRCm39) I380F probably damaging Het
Piezo2 A T 18: 63,207,733 (GRCm39) L1426Q probably null Het
Pik3cg A T 12: 32,254,024 (GRCm39) D654E possibly damaging Het
Poli G T 18: 70,642,058 (GRCm39) P714Q probably damaging Het
Polr3f A G 2: 144,378,230 (GRCm39) N201D probably benign Het
Prorp A G 12: 55,384,991 (GRCm39) D89G probably damaging Het
Ptprz1 A T 6: 22,959,747 (GRCm39) K81N probably benign Het
Rbm19 T C 5: 120,271,948 (GRCm39) probably null Het
Sec24a C T 11: 51,627,190 (GRCm39) V241I probably benign Het
Sgk3 A G 1: 9,950,567 (GRCm39) T160A possibly damaging Het
Slc1a4 A G 11: 20,254,375 (GRCm39) I497T probably benign Het
Slc26a9 A T 1: 131,690,532 (GRCm39) D512V probably damaging Het
Slc43a3 C T 2: 84,788,084 (GRCm39) R489C probably damaging Het
Slc5a12 T A 2: 110,452,089 (GRCm39) F327L probably benign Het
Slitrk3 A G 3: 72,957,104 (GRCm39) V556A possibly damaging Het
Spata6l A G 19: 28,926,024 (GRCm39) F130L probably damaging Het
Spib T C 7: 44,178,281 (GRCm39) E180G probably benign Het
Spint2 T A 7: 28,958,833 (GRCm39) N128Y probably damaging Het
Spx G A 6: 142,364,245 (GRCm39) G102E probably benign Het
Spz1 T A 13: 92,712,166 (GRCm39) E103D possibly damaging Het
Sstr2 T C 11: 113,515,495 (GRCm39) I138T probably benign Het
Sytl3 T A 17: 7,000,448 (GRCm39) I206N possibly damaging Het
Tcaf2 T C 6: 42,606,791 (GRCm39) T388A probably benign Het
Tdpoz8 G T 3: 92,981,344 (GRCm39) A121S probably benign Het
Thap12 T C 7: 98,365,572 (GRCm39) V580A possibly damaging Het
Tlr5 T A 1: 182,801,912 (GRCm39) D405E probably damaging Het
Tnxb T C 17: 34,890,878 (GRCm39) V407A probably damaging Het
Tpx2 T A 2: 152,732,544 (GRCm39) M606K probably benign Het
Trim43a T G 9: 88,466,312 (GRCm39) L211R probably damaging Het
Trim46 A T 3: 89,145,008 (GRCm39) Y489N probably damaging Het
Ttc28 C T 5: 111,424,188 (GRCm39) S1485L probably benign Het
Ttll8 T C 15: 88,798,654 (GRCm39) T694A probably benign Het
Txnl1 T C 18: 63,812,585 (GRCm39) T70A probably benign Het
Ube3a C T 7: 58,953,535 (GRCm39) A823V probably damaging Het
Ubqln5 C A 7: 103,778,741 (GRCm39) V28F probably damaging Het
Ulk1 T A 5: 110,935,017 (GRCm39) Q972L probably damaging Het
Unc93b1 T C 19: 3,994,062 (GRCm39) Y398H probably benign Het
Usp1 A G 4: 98,822,531 (GRCm39) D615G probably benign Het
Utp15 A G 13: 98,387,420 (GRCm39) C385R probably benign Het
Vmn2r91 T A 17: 18,356,142 (GRCm39) V603D probably damaging Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Wnt8a A G 18: 34,677,937 (GRCm39) D115G probably damaging Het
Yjefn3 A T 8: 70,341,645 (GRCm39) probably null Het
Ywhab A T 2: 163,853,807 (GRCm39) I95F probably damaging Het
Zfp143 C T 7: 109,660,489 (GRCm39) probably benign Het
Zfp607b C G 7: 27,401,949 (GRCm39) T135R possibly damaging Het
Zfp970 A G 2: 177,166,663 (GRCm39) Q79R possibly damaging Het
Other mutations in Cacna1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Cacna1b APN 2 24,541,212 (GRCm39) nonsense probably null
IGL00508:Cacna1b APN 2 24,547,301 (GRCm39) critical splice donor site probably null
IGL01085:Cacna1b APN 2 24,569,006 (GRCm39) missense probably damaging 0.98
IGL01310:Cacna1b APN 2 24,575,794 (GRCm39) missense probably damaging 1.00
IGL01361:Cacna1b APN 2 24,569,107 (GRCm39) missense possibly damaging 0.49
IGL01471:Cacna1b APN 2 24,547,304 (GRCm39) missense probably damaging 1.00
IGL01537:Cacna1b APN 2 24,548,540 (GRCm39) missense probably damaging 1.00
IGL01547:Cacna1b APN 2 24,522,047 (GRCm39) unclassified probably benign
IGL01750:Cacna1b APN 2 24,544,407 (GRCm39) missense probably damaging 1.00
IGL01813:Cacna1b APN 2 24,499,902 (GRCm39) missense probably damaging 1.00
IGL01939:Cacna1b APN 2 24,551,769 (GRCm39) missense probably damaging 1.00
IGL01955:Cacna1b APN 2 24,529,149 (GRCm39) missense probably damaging 1.00
IGL01972:Cacna1b APN 2 24,525,107 (GRCm39) critical splice donor site probably null
IGL01987:Cacna1b APN 2 24,587,579 (GRCm39) splice site probably null
IGL02096:Cacna1b APN 2 24,568,927 (GRCm39) missense probably benign 0.01
IGL02111:Cacna1b APN 2 24,497,003 (GRCm39) missense probably damaging 0.96
IGL02254:Cacna1b APN 2 24,506,827 (GRCm39) splice site probably null
IGL03084:Cacna1b APN 2 24,499,944 (GRCm39) missense probably benign
IGL03184:Cacna1b APN 2 24,548,501 (GRCm39) critical splice donor site probably null
IGL03202:Cacna1b APN 2 24,541,124 (GRCm39) missense probably damaging 1.00
IGL03210:Cacna1b APN 2 24,540,584 (GRCm39) missense probably benign 0.00
IGL03402:Cacna1b APN 2 24,652,821 (GRCm39) missense probably damaging 1.00
PIT4283001:Cacna1b UTSW 2 24,521,953 (GRCm39) missense probably damaging 1.00
R0062:Cacna1b UTSW 2 24,648,343 (GRCm39) missense probably damaging 1.00
R0062:Cacna1b UTSW 2 24,648,343 (GRCm39) missense probably damaging 1.00
R0206:Cacna1b UTSW 2 24,497,492 (GRCm39) missense probably damaging 1.00
R0208:Cacna1b UTSW 2 24,497,492 (GRCm39) missense probably damaging 1.00
R0240:Cacna1b UTSW 2 24,528,669 (GRCm39) unclassified probably benign
R0265:Cacna1b UTSW 2 24,651,856 (GRCm39) missense probably damaging 1.00
R0352:Cacna1b UTSW 2 24,515,244 (GRCm39) intron probably benign
R0376:Cacna1b UTSW 2 24,549,015 (GRCm39) splice site probably benign
R0383:Cacna1b UTSW 2 24,651,856 (GRCm39) missense probably damaging 1.00
R0432:Cacna1b UTSW 2 24,577,716 (GRCm39) missense probably damaging 1.00
R0595:Cacna1b UTSW 2 24,540,001 (GRCm39) splice site probably benign
R0660:Cacna1b UTSW 2 24,544,458 (GRCm39) missense probably damaging 1.00
R0664:Cacna1b UTSW 2 24,544,458 (GRCm39) missense probably damaging 1.00
R1107:Cacna1b UTSW 2 24,587,615 (GRCm39) missense probably damaging 1.00
R1184:Cacna1b UTSW 2 24,577,757 (GRCm39) splice site probably null
R1445:Cacna1b UTSW 2 24,608,148 (GRCm39) splice site probably benign
R1446:Cacna1b UTSW 2 24,596,189 (GRCm39) missense probably benign 0.01
R1496:Cacna1b UTSW 2 24,568,047 (GRCm39) missense probably benign
R1614:Cacna1b UTSW 2 24,580,819 (GRCm39) missense possibly damaging 0.88
R1626:Cacna1b UTSW 2 24,496,721 (GRCm39) missense probably damaging 1.00
R1917:Cacna1b UTSW 2 24,506,891 (GRCm39) missense probably null 0.80
R1984:Cacna1b UTSW 2 24,538,998 (GRCm39) missense probably damaging 1.00
R1986:Cacna1b UTSW 2 24,538,998 (GRCm39) missense probably damaging 1.00
R1989:Cacna1b UTSW 2 24,611,386 (GRCm39) missense probably damaging 1.00
R1990:Cacna1b UTSW 2 24,622,318 (GRCm39) missense probably damaging 1.00
R1991:Cacna1b UTSW 2 24,622,318 (GRCm39) missense probably damaging 1.00
R2098:Cacna1b UTSW 2 24,540,558 (GRCm39) missense probably damaging 1.00
R2139:Cacna1b UTSW 2 24,569,485 (GRCm39) missense probably benign 0.07
R2196:Cacna1b UTSW 2 24,651,800 (GRCm39) missense probably damaging 1.00
R2229:Cacna1b UTSW 2 24,575,816 (GRCm39) missense probably damaging 1.00
R2292:Cacna1b UTSW 2 24,496,632 (GRCm39) missense probably benign 0.01
R2570:Cacna1b UTSW 2 24,496,649 (GRCm39) nonsense probably null
R2850:Cacna1b UTSW 2 24,651,800 (GRCm39) missense probably damaging 1.00
R2911:Cacna1b UTSW 2 24,497,553 (GRCm39) splice site probably null
R2937:Cacna1b UTSW 2 24,496,540 (GRCm39) missense probably benign 0.00
R2938:Cacna1b UTSW 2 24,496,540 (GRCm39) missense probably benign 0.00
R3522:Cacna1b UTSW 2 24,653,055 (GRCm39) missense possibly damaging 0.94
R3800:Cacna1b UTSW 2 24,548,971 (GRCm39) missense probably benign 0.15
R4166:Cacna1b UTSW 2 24,567,923 (GRCm39) missense probably benign 0.32
R4300:Cacna1b UTSW 2 24,525,251 (GRCm39) missense probably damaging 1.00
R4366:Cacna1b UTSW 2 24,592,632 (GRCm39) missense probably damaging 1.00
R4493:Cacna1b UTSW 2 24,542,950 (GRCm39) missense probably damaging 0.99
R4494:Cacna1b UTSW 2 24,542,950 (GRCm39) missense probably damaging 0.99
R4522:Cacna1b UTSW 2 24,544,442 (GRCm39) missense probably damaging 1.00
R4612:Cacna1b UTSW 2 24,516,864 (GRCm39) nonsense probably null
R4673:Cacna1b UTSW 2 24,521,956 (GRCm39) missense probably damaging 1.00
R4703:Cacna1b UTSW 2 24,544,475 (GRCm39) missense probably damaging 1.00
R4704:Cacna1b UTSW 2 24,544,475 (GRCm39) missense probably damaging 1.00
R4777:Cacna1b UTSW 2 24,622,337 (GRCm39) missense probably damaging 1.00
R4795:Cacna1b UTSW 2 24,527,499 (GRCm39) missense possibly damaging 0.58
R4796:Cacna1b UTSW 2 24,527,499 (GRCm39) missense possibly damaging 0.58
R4962:Cacna1b UTSW 2 24,547,378 (GRCm39) missense probably damaging 1.00
R4962:Cacna1b UTSW 2 24,508,330 (GRCm39) missense probably damaging 1.00
R4974:Cacna1b UTSW 2 24,538,535 (GRCm39) missense probably damaging 0.99
R4990:Cacna1b UTSW 2 24,568,886 (GRCm39) critical splice donor site probably null
R5109:Cacna1b UTSW 2 24,580,797 (GRCm39) missense possibly damaging 0.88
R5117:Cacna1b UTSW 2 24,622,340 (GRCm39) missense probably damaging 1.00
R5176:Cacna1b UTSW 2 24,525,143 (GRCm39) missense probably damaging 1.00
R5253:Cacna1b UTSW 2 24,609,964 (GRCm39) missense probably damaging 1.00
R5372:Cacna1b UTSW 2 24,623,971 (GRCm39) missense probably damaging 1.00
R5374:Cacna1b UTSW 2 24,596,228 (GRCm39) missense probably damaging 1.00
R5465:Cacna1b UTSW 2 24,540,438 (GRCm39) critical splice donor site probably null
R5568:Cacna1b UTSW 2 24,497,612 (GRCm39) missense probably damaging 1.00
R5580:Cacna1b UTSW 2 24,540,566 (GRCm39) missense probably damaging 1.00
R5677:Cacna1b UTSW 2 24,569,370 (GRCm39) missense possibly damaging 0.64
R6277:Cacna1b UTSW 2 24,620,808 (GRCm39) missense probably damaging 1.00
R6294:Cacna1b UTSW 2 24,609,069 (GRCm39) missense possibly damaging 0.94
R6609:Cacna1b UTSW 2 24,543,061 (GRCm39) missense probably damaging 1.00
R6929:Cacna1b UTSW 2 24,522,022 (GRCm39) missense probably damaging 1.00
R7016:Cacna1b UTSW 2 24,652,860 (GRCm39) missense possibly damaging 0.77
R7112:Cacna1b UTSW 2 24,580,773 (GRCm39) missense probably damaging 0.97
R7162:Cacna1b UTSW 2 24,590,034 (GRCm39) missense probably benign 0.06
R7401:Cacna1b UTSW 2 24,569,306 (GRCm39) missense probably benign 0.00
R7402:Cacna1b UTSW 2 24,497,671 (GRCm39) missense probably benign 0.21
R7442:Cacna1b UTSW 2 24,497,513 (GRCm39) missense probably benign
R7450:Cacna1b UTSW 2 24,525,147 (GRCm39) nonsense probably null
R7481:Cacna1b UTSW 2 24,506,874 (GRCm39) missense probably damaging 0.99
R7792:Cacna1b UTSW 2 24,567,977 (GRCm39) missense probably damaging 0.99
R7999:Cacna1b UTSW 2 24,540,638 (GRCm39) missense probably damaging 1.00
R8041:Cacna1b UTSW 2 24,547,311 (GRCm39) missense probably damaging 1.00
R8084:Cacna1b UTSW 2 24,575,808 (GRCm39) missense probably benign 0.21
R8147:Cacna1b UTSW 2 24,569,188 (GRCm39) missense probably damaging 0.97
R8170:Cacna1b UTSW 2 24,568,886 (GRCm39) critical splice donor site probably null
R8371:Cacna1b UTSW 2 24,610,036 (GRCm39) missense possibly damaging 0.46
R8391:Cacna1b UTSW 2 24,596,212 (GRCm39) missense probably damaging 1.00
R8723:Cacna1b UTSW 2 24,548,510 (GRCm39) missense probably damaging 1.00
R8836:Cacna1b UTSW 2 24,542,982 (GRCm39) missense possibly damaging 0.93
R8856:Cacna1b UTSW 2 24,569,530 (GRCm39) missense probably benign 0.00
R8922:Cacna1b UTSW 2 24,622,340 (GRCm39) missense possibly damaging 0.94
R8940:Cacna1b UTSW 2 24,653,084 (GRCm39) unclassified probably benign
R9140:Cacna1b UTSW 2 24,525,224 (GRCm39) missense probably damaging 1.00
R9414:Cacna1b UTSW 2 24,538,514 (GRCm39) missense probably damaging 0.99
R9476:Cacna1b UTSW 2 24,540,058 (GRCm39) missense probably damaging 0.99
R9510:Cacna1b UTSW 2 24,540,058 (GRCm39) missense probably damaging 0.99
R9520:Cacna1b UTSW 2 24,651,799 (GRCm39) missense probably damaging 0.97
R9566:Cacna1b UTSW 2 24,498,092 (GRCm39) nonsense probably null
R9671:Cacna1b UTSW 2 24,596,282 (GRCm39) missense probably benign 0.00
R9757:Cacna1b UTSW 2 24,609,113 (GRCm39) missense probably damaging 0.99
R9784:Cacna1b UTSW 2 24,651,801 (GRCm39) missense possibly damaging 0.88
R9797:Cacna1b UTSW 2 24,508,287 (GRCm39) missense probably damaging 1.00
Z1088:Cacna1b UTSW 2 24,623,957 (GRCm39) missense probably damaging 1.00
Z1088:Cacna1b UTSW 2 24,551,856 (GRCm39) missense probably damaging 1.00
Z1176:Cacna1b UTSW 2 24,516,896 (GRCm39) nonsense probably null
Z1177:Cacna1b UTSW 2 24,569,000 (GRCm39) missense probably damaging 0.97
Z1177:Cacna1b UTSW 2 24,551,802 (GRCm39) missense probably damaging 1.00
Z1177:Cacna1b UTSW 2 24,528,689 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCTAGGTCTGGAAGCTCAGAAG -3'
(R):5'- AGACACTGAATTCCCTGTTCC -3'

Sequencing Primer
(F):5'- AAGCTCAGAAGGCCCTCTG -3'
(R):5'- GAATTCAGGCTCCCCACTTTCAG -3'
Posted On 2014-08-25