Incidental Mutation 'R6114:Cacnb2'
ID 484991
Institutional Source Beutler Lab
Gene Symbol Cacnb2
Ensembl Gene ENSMUSG00000057914
Gene Name calcium channel, voltage-dependent, beta 2 subunit
Synonyms Cchb2, Cavbeta2
MMRRC Submission 044263-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6114 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 14607899-14992719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14980012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 285 (H285L)
Ref Sequence ENSEMBL: ENSMUSP00000141221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114719] [ENSMUST00000114723] [ENSMUST00000193800]
AlphaFold Q8CC27
Predicted Effect noncoding transcript
Transcript: ENSMUST00000114718
SMART Domains Protein: ENSMUSP00000110366
Gene: ENSMUSG00000057914

DomainStartEndE-ValueType
Pfam:VGCC_beta4Aa_N 24 65 5.9e-28 PFAM
SH3 69 133 2.42e-2 SMART
low complexity region 149 161 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114719
AA Change: H291L

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: H291L

DomainStartEndE-ValueType
Pfam:VGCC_beta4Aa_N 24 65 1.7e-26 PFAM
SH3 69 133 2.42e-2 SMART
low complexity region 149 161 N/A INTRINSIC
GuKc 232 414 6.11e-38 SMART
low complexity region 419 448 N/A INTRINSIC
low complexity region 546 561 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114723
AA Change: H335L

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: H335L

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: ENSMUST00000191903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193452
Predicted Effect unknown
Transcript: ENSMUST00000193522
AA Change: H108L
Predicted Effect possibly damaging
Transcript: ENSMUST00000193800
AA Change: H285L

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: H285L

DomainStartEndE-ValueType
Pfam:VGCC_beta4Aa_N 18 59 3.2e-27 PFAM
SH3 63 127 2.42e-2 SMART
low complexity region 143 155 N/A INTRINSIC
GuKc 226 408 6.11e-38 SMART
low complexity region 413 442 N/A INTRINSIC
low complexity region 540 555 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194921
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 94% (60/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C A 14: 68,809,252 (GRCm39) V237L probably benign Het
Aff1 T C 5: 103,990,163 (GRCm39) S878P probably damaging Het
Ahcy A C 2: 154,904,079 (GRCm39) L386R probably damaging Het
Ank2 T C 3: 126,804,700 (GRCm39) N607D probably damaging Het
Arid5b T C 10: 67,933,574 (GRCm39) D776G possibly damaging Het
Art4 T A 6: 136,834,211 (GRCm39) T11S unknown Het
Blm T C 7: 80,163,235 (GRCm39) T39A probably damaging Het
Cabin1 T A 10: 75,583,805 (GRCm39) M221L probably benign Het
Cacna1c T C 6: 118,573,101 (GRCm39) T1675A probably benign Het
Cchcr1 A G 17: 35,836,227 (GRCm39) E339G probably damaging Het
Cd14 A G 18: 36,859,006 (GRCm39) W150R probably damaging Het
Cep162 A G 9: 87,085,763 (GRCm39) I1187T probably benign Het
Cntnap4 A G 8: 113,568,385 (GRCm39) H807R probably damaging Het
Copb1 T A 7: 113,846,036 (GRCm39) H178L probably benign Het
Cpxm2 A G 7: 131,756,035 (GRCm39) V103A probably benign Het
Egfr A G 11: 16,854,374 (GRCm39) T849A possibly damaging Het
Endou T A 15: 97,611,757 (GRCm39) K294* probably null Het
Hoxd9 A G 2: 74,529,709 (GRCm39) N322D probably damaging Het
Hsph1 C A 5: 149,550,852 (GRCm39) V416L possibly damaging Het
Igkv4-78 T A 6: 69,036,743 (GRCm39) T97S possibly damaging Het
Itga10 G T 3: 96,556,351 (GRCm39) C162F probably damaging Het
Lmod2 A G 6: 24,603,691 (GRCm39) E222G probably damaging Het
Lpar5 A G 6: 125,058,639 (GRCm39) N120S probably damaging Het
Lrrc37 T A 11: 103,508,617 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,632,029 (GRCm39) I1318V probably benign Het
Lst1 T C 17: 35,407,336 (GRCm39) T11A possibly damaging Het
Mfn1 C A 3: 32,617,985 (GRCm39) A106D probably damaging Het
Ms4a12 G T 19: 11,192,654 (GRCm39) N227K probably benign Het
Nr1h4 T A 10: 89,314,678 (GRCm39) N273Y possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or10a3b A T 7: 108,444,593 (GRCm39) M208K possibly damaging Het
Or1l8 A T 2: 36,817,701 (GRCm39) C142S possibly damaging Het
Or6c202 T A 10: 128,996,202 (GRCm39) H217L probably benign Het
Pcdhgc3 C G 18: 37,940,925 (GRCm39) T442R probably benign Het
Pcnx2 T C 8: 126,500,686 (GRCm39) N1468S probably damaging Het
Pde2a A T 7: 101,160,319 (GRCm39) probably null Het
Pitx2 C G 3: 128,998,062 (GRCm39) probably null Het
Reck T A 4: 43,922,895 (GRCm39) I390N probably damaging Het
Rora A G 9: 69,278,605 (GRCm39) N254S probably benign Het
Samd4b A G 7: 28,222,217 (GRCm39) probably null Het
Scn8a A G 15: 100,938,477 (GRCm39) T1949A probably damaging Het
Slc22a15 A T 3: 101,768,168 (GRCm39) Y346* probably null Het
Slc24a5 A G 2: 124,925,012 (GRCm39) T218A probably benign Het
Slc38a10 G A 11: 120,020,138 (GRCm39) Q305* probably null Het
Slc45a4 G A 15: 73,477,453 (GRCm39) P28S probably damaging Het
Smyd5 A T 6: 85,417,244 (GRCm39) probably benign Het
Sox8 T C 17: 25,786,494 (GRCm39) D403G probably damaging Het
Stx7 A G 10: 24,060,883 (GRCm39) probably null Het
Svil T C 18: 5,108,639 (GRCm39) S1522P probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tasor2 G A 13: 3,640,081 (GRCm39) T352M probably damaging Het
Tcf25 A T 8: 124,111,114 (GRCm39) K192M probably damaging Het
Tecpr1 C T 5: 144,141,458 (GRCm39) G804S possibly damaging Het
Teddm1a C G 1: 153,767,614 (GRCm39) S26C probably damaging Het
Usp13 C T 3: 32,908,818 (GRCm39) P155S probably damaging Het
Usp17lb T A 7: 104,489,571 (GRCm39) D451V possibly damaging Het
Vmn1r173 A G 7: 23,402,254 (GRCm39) N163S possibly damaging Het
Vmn2r103 G T 17: 20,032,587 (GRCm39) C787F probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zbtb40 T A 4: 136,716,002 (GRCm39) I988F probably damaging Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp536 A T 7: 37,179,161 (GRCm39) I84N probably damaging Het
Other mutations in Cacnb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Cacnb2 APN 2 14,989,081 (GRCm39) missense possibly damaging 0.95
IGL01806:Cacnb2 APN 2 14,619,079 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATGCTAGGCAAGACAGGTGC -3'
(R):5'- ATCCCAGTAACTACACTAGCTGTTG -3'

Sequencing Primer
(F):5'- GGATCCCCTGCAACTGGAATTATAG -3'
(R):5'- ACTACACTAGCTGTTGACATGG -3'
Posted On 2017-08-16