Incidental Mutation 'R2101:Cacnb1'
ID 230520
Institutional Source Beutler Lab
Gene Symbol Cacnb1
Ensembl Gene ENSMUSG00000020882
Gene Name calcium channel, voltage-dependent, beta 1 subunit
Synonyms Cchb1, Cchlb1
MMRRC Submission 040105-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2101 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 97892339-97913860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 97896554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 369 (V369G)
Ref Sequence ENSEMBL: ENSMUSP00000103187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017552] [ENSMUST00000092736] [ENSMUST00000103144] [ENSMUST00000107561] [ENSMUST00000107562]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000017552
AA Change: V369G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000017552
Gene: ENSMUSG00000020882
AA Change: V369G

DomainStartEndE-ValueType
low complexity region 41 53 N/A INTRINSIC
Pfam:VGCC_beta4Aa_N 58 99 1.1e-26 PFAM
SH3 103 167 2.98e-2 SMART
low complexity region 182 193 N/A INTRINSIC
GuKc 228 409 5.57e-41 SMART
low complexity region 412 443 N/A INTRINSIC
low complexity region 523 543 N/A INTRINSIC
low complexity region 549 557 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000092736
AA Change: V414G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000090412
Gene: ENSMUSG00000020882
AA Change: V414G

DomainStartEndE-ValueType
low complexity region 41 53 N/A INTRINSIC
Pfam:VGCC_beta4Aa_N 58 99 4.7e-26 PFAM
SH3 103 167 2.98e-2 SMART
low complexity region 182 193 N/A INTRINSIC
low complexity region 219 234 N/A INTRINSIC
GuKc 273 454 5.57e-41 SMART
low complexity region 457 488 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000103144
AA Change: V414G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099433
Gene: ENSMUSG00000020882
AA Change: V414G

DomainStartEndE-ValueType
low complexity region 41 53 N/A INTRINSIC
Pfam:VGCC_beta4Aa_N 58 99 1.4e-25 PFAM
SH3 103 167 2.98e-2 SMART
low complexity region 182 193 N/A INTRINSIC
low complexity region 219 234 N/A INTRINSIC
GuKc 273 454 5.57e-41 SMART
low complexity region 457 488 N/A INTRINSIC
low complexity region 603 623 N/A INTRINSIC
low complexity region 629 637 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107561
AA Change: V367G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103186
Gene: ENSMUSG00000020882
AA Change: V367G

DomainStartEndE-ValueType
Pfam:VGCC_beta4Aa_N 11 52 8e-27 PFAM
SH3 56 120 2.98e-2 SMART
low complexity region 135 146 N/A INTRINSIC
low complexity region 172 187 N/A INTRINSIC
GuKc 226 407 5.57e-41 SMART
low complexity region 410 441 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107562
AA Change: V369G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103187
Gene: ENSMUSG00000020882
AA Change: V369G

DomainStartEndE-ValueType
low complexity region 41 53 N/A INTRINSIC
Pfam:VGCC_beta4Aa_N 58 99 4.2e-26 PFAM
SH3 103 167 2.98e-2 SMART
low complexity region 182 193 N/A INTRINSIC
GuKc 228 409 5.57e-41 SMART
low complexity region 412 443 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135462
Meta Mutation Damage Score 0.6976 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant animals have reduced muscle mass, thin limbs, a curved spine, and flexed necks and extremeties. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 G A 2: 103,397,207 (GRCm39) A46T probably benign Het
Agap3 T A 5: 24,692,797 (GRCm39) L47Q probably damaging Het
Apaf1 T G 10: 90,895,942 (GRCm39) I377L probably benign Het
Astn2 G A 4: 65,499,923 (GRCm39) R937* probably null Het
Cdc42bpa G T 1: 179,974,533 (GRCm39) V1464L probably benign Het
Cdkn2aip A T 8: 48,166,036 (GRCm39) M90K probably damaging Het
Chd3 A T 11: 69,239,877 (GRCm39) D1650E probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clca3a2 T C 3: 144,783,699 (GRCm39) T639A probably damaging Het
Cluh G T 11: 74,551,328 (GRCm39) probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Col11a2 A T 17: 34,271,143 (GRCm39) D528V probably damaging Het
Cyfip2 A G 11: 46,133,270 (GRCm39) L810P probably damaging Het
D430041D05Rik A G 2: 103,979,175 (GRCm39) V2084A probably damaging Het
Dcc G A 18: 71,943,941 (GRCm39) H237Y possibly damaging Het
Ddx60 T A 8: 62,393,679 (GRCm39) F38L probably damaging Het
Dio2 T C 12: 90,696,597 (GRCm39) *130W probably null Het
Dock5 G T 14: 68,031,459 (GRCm39) F990L probably benign Het
Dpy19l1 A T 9: 24,393,331 (GRCm39) V146E probably damaging Het
Dscam T C 16: 96,411,549 (GRCm39) T1776A probably benign Het
Enpep C T 3: 129,092,587 (GRCm39) S532N probably benign Het
Gdf6 A G 4: 9,860,025 (GRCm39) D369G probably damaging Het
Gtf2b T C 3: 142,477,144 (GRCm39) probably benign Het
Hmbox1 A G 14: 65,066,028 (GRCm39) probably benign Het
Hps3 C A 3: 20,066,947 (GRCm39) V540F possibly damaging Het
Hsd3b6 T A 3: 98,713,553 (GRCm39) I249F possibly damaging Het
Hunk T A 16: 90,229,388 (GRCm39) probably null Het
Kidins220 T A 12: 25,107,422 (GRCm39) L1625Q probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Myo10 T A 15: 25,722,345 (GRCm39) L186Q probably benign Het
N4bp2 T A 5: 65,948,224 (GRCm39) W285R probably damaging Het
Nat8l T C 5: 34,155,716 (GRCm39) L124P probably damaging Het
Nemp2 T C 1: 52,680,225 (GRCm39) probably null Het
Nkain2 G A 10: 32,205,813 (GRCm39) T74I possibly damaging Het
Nol4 A G 18: 22,956,466 (GRCm39) S239P probably damaging Het
Or4c118 T A 2: 88,975,301 (GRCm39) E22V probably benign Het
Pcbp3 T C 10: 76,625,589 (GRCm39) I152V possibly damaging Het
Pcp4l1 G T 1: 171,003,174 (GRCm39) P10Q probably damaging Het
Pla1a T C 16: 38,235,730 (GRCm39) N135D probably damaging Het
Plb1 T A 5: 32,507,004 (GRCm39) M1193K probably damaging Het
Prc1 T C 7: 79,962,032 (GRCm39) V73A probably benign Het
Prkd2 T A 7: 16,603,490 (GRCm39) W807R probably damaging Het
Prp2rt G T 13: 97,235,730 (GRCm39) R6S probably damaging Het
Ptprb C T 10: 116,150,943 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,559 (GRCm39) I993V probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rev3l T C 10: 39,704,092 (GRCm39) V2046A probably benign Het
Rnpep G T 1: 135,199,355 (GRCm39) N334K probably damaging Het
Sarm1 G A 11: 78,366,115 (GRCm39) P695S probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Slc38a10 A T 11: 120,023,567 (GRCm39) V283E probably damaging Het
Slco6c1 A T 1: 97,000,595 (GRCm39) L552* probably null Het
Tas2r136 T C 6: 132,754,495 (GRCm39) M211V probably benign Het
Tax1bp3 G A 11: 73,071,947 (GRCm39) D65N probably damaging Het
Tdrd5 A G 1: 156,129,209 (GRCm39) F167S probably damaging Het
Tfeb G A 17: 48,100,590 (GRCm39) V269M probably damaging Het
Tspan12 A T 6: 21,799,887 (GRCm39) F153L probably benign Het
Txnrd1 T G 10: 82,717,573 (GRCm39) L186V probably damaging Het
Upk1b A T 16: 38,600,499 (GRCm39) C160* probably null Het
Uty T C Y: 1,176,541 (GRCm39) Q172R probably damaging Het
Vmn1r23 T C 6: 57,903,437 (GRCm39) K114E possibly damaging Het
Vmn2r99 T G 17: 19,598,253 (GRCm39) N92K probably damaging Het
Vstm2a T A 11: 16,213,191 (GRCm39) M192K probably benign Het
Zc3h12c A G 9: 52,027,721 (GRCm39) V547A probably benign Het
Zfp944 T A 17: 22,558,809 (GRCm39) N146I probably benign Het
Other mutations in Cacnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Cacnb1 APN 11 97,913,190 (GRCm39) missense possibly damaging 0.50
IGL02633:Cacnb1 APN 11 97,913,199 (GRCm39) missense probably damaging 0.98
awkward UTSW 11 97,896,608 (GRCm39) missense probably damaging 1.00
R1037:Cacnb1 UTSW 11 97,895,843 (GRCm39) utr 3 prime probably benign
R2363:Cacnb1 UTSW 11 97,903,672 (GRCm39) missense possibly damaging 0.87
R4159:Cacnb1 UTSW 11 97,903,100 (GRCm39) missense probably damaging 1.00
R4942:Cacnb1 UTSW 11 97,893,809 (GRCm39) missense probably damaging 1.00
R5360:Cacnb1 UTSW 11 97,909,097 (GRCm39) critical splice donor site probably null
R5653:Cacnb1 UTSW 11 97,900,105 (GRCm39) critical splice donor site probably null
R6137:Cacnb1 UTSW 11 97,896,608 (GRCm39) missense probably damaging 1.00
R7154:Cacnb1 UTSW 11 97,895,959 (GRCm39) missense probably damaging 0.99
R7163:Cacnb1 UTSW 11 97,903,726 (GRCm39) missense probably benign 0.20
R7800:Cacnb1 UTSW 11 97,900,121 (GRCm39) missense possibly damaging 0.56
R7816:Cacnb1 UTSW 11 97,896,115 (GRCm39) missense probably damaging 1.00
R8143:Cacnb1 UTSW 11 97,894,146 (GRCm39) missense probably benign 0.00
R8336:Cacnb1 UTSW 11 97,894,119 (GRCm39) missense probably benign 0.00
R8889:Cacnb1 UTSW 11 97,901,192 (GRCm39) missense probably damaging 1.00
R8892:Cacnb1 UTSW 11 97,901,192 (GRCm39) missense probably damaging 1.00
R8933:Cacnb1 UTSW 11 97,896,578 (GRCm39) missense probably damaging 0.99
R9067:Cacnb1 UTSW 11 97,896,131 (GRCm39) missense probably damaging 1.00
R9087:Cacnb1 UTSW 11 97,893,833 (GRCm39) missense possibly damaging 0.91
R9166:Cacnb1 UTSW 11 97,910,534 (GRCm39) missense probably damaging 1.00
R9710:Cacnb1 UTSW 11 97,902,197 (GRCm39) missense probably benign
R9790:Cacnb1 UTSW 11 97,900,186 (GRCm39) missense probably damaging 1.00
R9791:Cacnb1 UTSW 11 97,900,186 (GRCm39) missense probably damaging 1.00
Z1176:Cacnb1 UTSW 11 97,913,381 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CGCAGTAGGGAGTATTTGAGC -3'
(R):5'- GATCTCATTCTGGCAGAGAGG -3'

Sequencing Primer
(F):5'- CAGTAGGGAGTATTTGAGCCATTTG -3'
(R):5'- TCATTCTGGCAGAGAGGCTCAG -3'
Posted On 2014-09-18