Incidental Mutation 'R4990:Cacna1b'
ID 386100
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 042584-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4990 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 24493899-24653164 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 24568886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041342] [ENSMUST00000041342] [ENSMUST00000041342] [ENSMUST00000070864] [ENSMUST00000070864] [ENSMUST00000070864] [ENSMUST00000100348] [ENSMUST00000100348] [ENSMUST00000100348] [ENSMUST00000102939] [ENSMUST00000102939] [ENSMUST00000102939] [ENSMUST00000114447] [ENSMUST00000114447] [ENSMUST00000114447] [ENSMUST00000124183]
AlphaFold O55017
Predicted Effect probably null
Transcript: ENSMUST00000041342
SMART Domains Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113

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 null
Transcript: ENSMUST00000041342
SMART Domains Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113

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 null
Transcript: ENSMUST00000041342
SMART Domains Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113

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 null
Transcript: ENSMUST00000070864
SMART Domains Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113

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 null
Transcript: ENSMUST00000070864
SMART Domains Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113

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 null
Transcript: ENSMUST00000070864
SMART Domains Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113

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 null
Transcript: ENSMUST00000100348
SMART Domains Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113

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 null
Transcript: ENSMUST00000100348
SMART Domains Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113

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 null
Transcript: ENSMUST00000100348
SMART Domains Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113

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 null
Transcript: ENSMUST00000102939
SMART Domains Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113

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 null
Transcript: ENSMUST00000102939
SMART Domains Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113

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 null
Transcript: ENSMUST00000102939
SMART Domains Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113

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 null
Transcript: ENSMUST00000114447
SMART Domains Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113

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
Predicted Effect probably null
Transcript: ENSMUST00000114447
SMART Domains Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113

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
Predicted Effect probably null
Transcript: ENSMUST00000114447
SMART Domains Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121558
Predicted Effect probably benign
Transcript: ENSMUST00000124183
SMART Domains Protein: ENSMUSP00000114605
Gene: ENSMUSG00000004113

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
low complexity region 44 60 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,334,098 (GRCm39) I1135V possibly damaging Het
Abca14 G A 7: 119,911,388 (GRCm39) R1324K probably benign Het
Amer3 A C 1: 34,627,822 (GRCm39) D687A probably benign Het
Aplnr G A 2: 84,967,721 (GRCm39) V249M probably damaging Het
Atg16l1 A G 1: 87,717,091 (GRCm39) K471R probably benign Het
Catspere2 A C 1: 177,925,987 (GRCm39) I218L probably benign Het
Ccdc152 A G 15: 3,330,639 (GRCm39) I12T probably benign Het
Cds1 A G 5: 101,946,245 (GRCm39) Y148C probably damaging Het
Cenpe T A 3: 134,962,401 (GRCm39) L1989Q probably damaging Het
Cep295 T C 9: 15,243,434 (GRCm39) Q1674R probably damaging Het
D930020B18Rik C G 10: 121,490,666 (GRCm39) P89A probably damaging Het
D930020B18Rik C T 10: 121,490,667 (GRCm39) P89L probably damaging Het
Dock2 T C 11: 34,586,078 (GRCm39) M535V probably damaging Het
Dscam A G 16: 96,626,715 (GRCm39) V398A probably benign Het
Elmo1 T C 13: 20,526,689 (GRCm39) F413S probably damaging Het
Emb T A 13: 117,401,046 (GRCm39) N198K probably damaging Het
Eno3 A G 11: 70,549,473 (GRCm39) D98G probably damaging Het
Fbp1 C T 13: 63,012,888 (GRCm39) V102I probably benign Het
Fbxw18 T C 9: 109,517,461 (GRCm39) E414G probably damaging Het
Grem2 A G 1: 174,664,379 (GRCm39) C157R probably damaging Het
Hnrnpr G A 4: 136,063,609 (GRCm39) V239I probably damaging Het
Hnrnpr A G 4: 136,056,690 (GRCm39) E230G probably damaging Het
Ipo11 A T 13: 106,997,395 (GRCm39) I688K probably benign Het
Irx4 G T 13: 73,413,626 (GRCm39) R32L probably benign Het
Kcnh7 T C 2: 62,564,632 (GRCm39) N876D probably benign Het
Klk1b26 T A 7: 43,665,673 (GRCm39) probably null Het
Lrp2 G T 2: 69,311,732 (GRCm39) T2582K probably benign Het
Lrriq1 A G 10: 103,036,420 (GRCm39) I911T probably damaging Het
Megf6 A G 4: 154,351,683 (GRCm39) E1132G possibly damaging Het
Mesp1 A G 7: 79,442,669 (GRCm39) Y203H probably damaging Het
Ms4a4a T C 19: 11,356,201 (GRCm39) S29P probably benign Het
Nbeal2 A C 9: 110,463,871 (GRCm39) C1174G probably benign Het
Neb C T 2: 52,145,558 (GRCm39) V2989I probably benign Het
Nkx2-1 T C 12: 56,581,724 (GRCm39) Y41C possibly damaging Het
Nrxn3 T A 12: 89,227,244 (GRCm39) I293N probably damaging Het
Nt5e A G 9: 88,237,646 (GRCm39) N192S probably benign Het
Ntng1 A T 3: 110,042,577 (GRCm39) probably null Het
Or13a17 G A 7: 140,271,360 (GRCm39) E181K probably damaging Het
Or3a1d A G 11: 74,238,023 (GRCm39) I129T probably damaging Het
Or4c110 A T 2: 88,831,816 (GRCm39) I272K probably damaging Het
Or4c15b A T 2: 89,113,671 (GRCm39) probably null Het
Panx1 A G 9: 14,921,513 (GRCm39) Y121H probably damaging Het
Pcsk4 A G 10: 80,161,215 (GRCm39) I233T possibly damaging Het
Pgm3 T A 9: 86,440,465 (GRCm39) I409F probably damaging Het
Plg T C 17: 12,630,397 (GRCm39) Y645H probably benign Het
Pon3 T C 6: 5,221,619 (GRCm39) H337R probably benign Het
Rasa2 A G 9: 96,474,042 (GRCm39) I162T probably benign Het
Ror1 A G 4: 100,299,161 (GRCm39) I845V probably benign Het
Rpl4 T C 9: 64,082,167 (GRCm39) V22A probably benign Het
Ryr3 T C 2: 112,740,318 (GRCm39) N531S probably damaging Het
Ryr3 G T 2: 112,466,122 (GRCm39) Q4746K probably damaging Het
Sbno1 A T 5: 124,538,228 (GRCm39) F571I probably damaging Het
Scarf1 T C 11: 75,416,841 (GRCm39) V761A probably benign Het
Sec22b T G 3: 97,828,427 (GRCm39) probably null Het
Slc45a2 A G 15: 11,001,236 (GRCm39) M112V probably benign Het
Snai3 G A 8: 123,183,071 (GRCm39) T158M possibly damaging Het
Spata31d1a T C 13: 59,850,965 (GRCm39) N388D probably benign Het
Speer1e A T 5: 11,236,381 (GRCm39) E138V probably damaging Het
Sv2b T C 7: 74,767,470 (GRCm39) N642S possibly damaging Het
Svil T A 18: 5,056,810 (GRCm39) I561K probably benign Het
Trappc11 A T 8: 47,943,930 (GRCm39) D1127E probably benign Het
Triobp C A 15: 78,851,205 (GRCm39) A453D probably benign Het
Tubd1 T C 11: 86,448,665 (GRCm39) L295P probably damaging Het
Ulk4 C T 9: 121,021,852 (GRCm39) V620I probably benign Het
Vmn2r39 A G 7: 9,026,675 (GRCm39) I442T probably benign Het
Wwc1 T C 11: 35,767,393 (GRCm39) T413A probably benign Het
Zfp131 A C 13: 120,244,449 (GRCm39) V77G probably damaging Het
Zfyve26 T C 12: 79,334,607 (GRCm39) D137G probably 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
R1992: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
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'- CACACAAGGAAGTTTACCAAGG -3'
(R):5'- TGCACAGGACTCAAGCAAG -3'

Sequencing Primer
(F):5'- GGAAGTTTACCAAGGGAAGAATTG -3'
(R):5'- CGGTGCTTGTACCCAAGG -3'
Posted On 2016-05-10