Incidental Mutation 'IGL01806:Cacnb2'
ID 155688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacnb2
Ensembl Gene ENSMUSG00000057914
Gene Name calcium channel, voltage-dependent, beta 2 subunit
Synonyms Cchb2, Cavbeta2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01806
Quality Score
Status
Chromosome 2
Chromosomal Location 14607899-14992719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14619079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 38 (Y38C)
Ref Sequence ENSEMBL: ENSMUSP00000110371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114723]
AlphaFold Q8CC27
Predicted Effect probably damaging
Transcript: ENSMUST00000114723
AA Change: Y38C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: Y38C

DomainStartEndE-ValueType
low complexity region 50 61 N/A INTRINSIC
Pfam:VGCC_beta4Aa_N 68 109 2.7e-25 PFAM
SH3 113 177 2.42e-2 SMART
low complexity region 193 205 N/A INTRINSIC
GuKc 276 458 6.11e-38 SMART
low complexity region 463 492 N/A INTRINSIC
low complexity region 590 605 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192112
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit lethality at E10.5 with growth retardation, abnormal yolk vasculature and abnormal cardiac development and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg1 T C 8: 95,739,559 (GRCm39) S670P probably damaging Het
Ap5m1 T A 14: 49,317,797 (GRCm39) F351L probably damaging Het
Ccdc28a C T 10: 18,095,262 (GRCm39) A151T possibly damaging Het
Cgnl1 T C 9: 71,557,604 (GRCm39) E976G probably damaging Het
Cyp2c39 A G 19: 39,525,264 (GRCm39) Y189C probably damaging Het
Dbt T C 3: 116,326,954 (GRCm39) V101A probably damaging Het
Evc A G 5: 37,477,578 (GRCm39) probably null Het
Fastkd5 A G 2: 130,457,532 (GRCm39) Y353H probably benign Het
Gm6408 G A 5: 146,418,892 (GRCm39) R30H probably damaging Het
Lhx8 A G 3: 154,027,992 (GRCm39) S156P probably damaging Het
Mki67 T C 7: 135,300,686 (GRCm39) I1449M probably damaging Het
Mtrr A T 13: 68,728,719 (GRCm39) V27E possibly damaging Het
Myh14 A G 7: 44,307,363 (GRCm39) V226A probably benign Het
Nek1 T C 8: 61,577,246 (GRCm39) S1076P possibly damaging Het
Or52z14 C T 7: 103,253,548 (GRCm39) A229V probably benign Het
Or6ae1 G T 7: 139,742,841 (GRCm39) N7K probably benign Het
Pcdhb7 A G 18: 37,475,548 (GRCm39) D228G possibly damaging Het
Pias3 T C 3: 96,611,073 (GRCm39) S414P probably benign Het
Plcd4 G A 1: 74,591,192 (GRCm39) V196I probably benign Het
Proca1 A G 11: 78,095,737 (GRCm39) D123G probably damaging Het
Ptpn3 A G 4: 57,254,915 (GRCm39) probably null Het
Ptprq C A 10: 107,535,469 (GRCm39) R432L probably damaging Het
Rasgrp4 A G 7: 28,838,475 (GRCm39) K108E possibly damaging Het
Siglecg A G 7: 43,060,888 (GRCm39) probably null Het
Srpra A G 9: 35,126,201 (GRCm39) T465A possibly damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Zeb1 G A 18: 5,767,867 (GRCm39) V793M possibly damaging Het
Other mutations in Cacnb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Cacnb2 APN 2 14,989,081 (GRCm39) missense possibly damaging 0.95
IGL01939:Cacnb2 APN 2 14,976,380 (GRCm39) missense probably benign 0.16
IGL02941:Cacnb2 APN 2 14,963,640 (GRCm39) missense probably benign 0.00
PIT1430001:Cacnb2 UTSW 2 14,976,412 (GRCm39) nonsense probably null
PIT4498001:Cacnb2 UTSW 2 14,879,630 (GRCm39) nonsense probably null
PIT4508001:Cacnb2 UTSW 2 14,989,230 (GRCm39) missense probably benign 0.00
R0095:Cacnb2 UTSW 2 14,963,586 (GRCm39) missense probably damaging 1.00
R0731:Cacnb2 UTSW 2 14,990,517 (GRCm39) missense possibly damaging 0.95
R1521:Cacnb2 UTSW 2 14,619,163 (GRCm39) missense probably benign 0.18
R1829:Cacnb2 UTSW 2 14,990,775 (GRCm39) missense possibly damaging 0.89
R2174:Cacnb2 UTSW 2 14,963,578 (GRCm39) missense probably benign 0.21
R2471:Cacnb2 UTSW 2 14,989,125 (GRCm39) missense probably damaging 1.00
R2473:Cacnb2 UTSW 2 14,989,125 (GRCm39) missense probably damaging 1.00
R3801:Cacnb2 UTSW 2 14,829,074 (GRCm39) missense possibly damaging 0.85
R3831:Cacnb2 UTSW 2 14,986,236 (GRCm39) missense probably damaging 1.00
R3832:Cacnb2 UTSW 2 14,986,236 (GRCm39) missense probably damaging 1.00
R3833:Cacnb2 UTSW 2 14,986,236 (GRCm39) missense probably damaging 1.00
R3981:Cacnb2 UTSW 2 14,609,314 (GRCm39) missense probably benign
R4231:Cacnb2 UTSW 2 14,986,251 (GRCm39) missense probably damaging 1.00
R4426:Cacnb2 UTSW 2 14,980,026 (GRCm39) nonsense probably null
R4569:Cacnb2 UTSW 2 14,990,811 (GRCm39) missense possibly damaging 0.94
R4815:Cacnb2 UTSW 2 14,879,591 (GRCm39) missense probably damaging 1.00
R4911:Cacnb2 UTSW 2 14,986,151 (GRCm39) missense possibly damaging 0.83
R5189:Cacnb2 UTSW 2 14,990,849 (GRCm39) missense possibly damaging 0.56
R6114:Cacnb2 UTSW 2 14,980,012 (GRCm39) missense possibly damaging 0.88
R6158:Cacnb2 UTSW 2 14,990,412 (GRCm39) missense possibly damaging 0.62
R6530:Cacnb2 UTSW 2 14,979,978 (GRCm39) missense probably damaging 1.00
R6612:Cacnb2 UTSW 2 14,979,960 (GRCm39) missense probably benign 0.41
R6882:Cacnb2 UTSW 2 14,829,110 (GRCm39) missense probably benign 0.00
R6889:Cacnb2 UTSW 2 14,990,826 (GRCm39) missense possibly damaging 0.55
R7804:Cacnb2 UTSW 2 14,972,848 (GRCm39) missense probably benign 0.08
R7820:Cacnb2 UTSW 2 14,965,477 (GRCm39) missense probably damaging 1.00
R7971:Cacnb2 UTSW 2 14,976,409 (GRCm39) missense possibly damaging 0.51
R7980:Cacnb2 UTSW 2 14,609,326 (GRCm39) missense probably benign
R7993:Cacnb2 UTSW 2 14,968,731 (GRCm39) missense probably benign 0.16
R8762:Cacnb2 UTSW 2 14,972,759 (GRCm39) missense possibly damaging 0.71
R8868:Cacnb2 UTSW 2 14,989,080 (GRCm39) missense probably benign 0.41
R9147:Cacnb2 UTSW 2 14,972,773 (GRCm39) missense possibly damaging 0.89
R9148:Cacnb2 UTSW 2 14,972,773 (GRCm39) missense possibly damaging 0.89
R9211:Cacnb2 UTSW 2 14,879,308 (GRCm39) missense unknown
R9521:Cacnb2 UTSW 2 14,609,138 (GRCm39) start gained probably benign
R9773:Cacnb2 UTSW 2 14,976,452 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04