Incidental Mutation 'R9067:Cacnb1'
ID 689319
Institutional Source Beutler Lab
Gene Symbol Cacnb1
Ensembl Gene ENSMUSG00000020882
Gene Name calcium channel, voltage-dependent, beta 1 subunit
Synonyms Cchb1, Cchlb1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9067 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 97892339-97913860 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 97896131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 386 (D386Y)
Ref Sequence ENSEMBL: ENSMUSP00000017552 (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: D386Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017552
Gene: ENSMUSG00000020882
AA Change: D386Y

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: D431Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090412
Gene: ENSMUSG00000020882
AA Change: D431Y

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: D431Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099433
Gene: ENSMUSG00000020882
AA Change: D431Y

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: D384Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103186
Gene: ENSMUSG00000020882
AA Change: D384Y

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: D386Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103187
Gene: ENSMUSG00000020882
AA Change: D386Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T G 2: 19,522,493 (GRCm39) D202A probably damaging Het
Aass T A 6: 23,077,123 (GRCm39) R745S probably benign Het
Adamts14 C T 10: 61,085,439 (GRCm39) R195H possibly damaging Het
Afm T C 5: 90,671,674 (GRCm39) F119L probably benign Het
Alox5ap T A 5: 149,222,190 (GRCm39) V93E probably damaging Het
Ascl3 G A 7: 109,327,104 (GRCm39) P72S probably benign Het
Ccdc121rt3 T G 5: 112,502,706 (GRCm39) I333L possibly damaging Het
Cep350 T C 1: 155,737,485 (GRCm39) E2786G probably benign Het
Chd1 A T 17: 15,951,107 (GRCm39) K227N possibly damaging Het
Cyp4f13 C G 17: 33,143,801 (GRCm39) E508Q probably damaging Het
Dlgap1 T A 17: 71,116,186 (GRCm39) L843Q probably damaging Het
Elk4 T G 1: 131,942,143 (GRCm39) I5S possibly damaging Het
Erc1 A T 6: 119,774,036 (GRCm39) D306E possibly damaging Het
Fars2 G A 13: 36,388,846 (GRCm39) V112I probably benign Het
Gdf2 A T 14: 33,663,411 (GRCm39) T102S probably benign Het
Glb1 A G 9: 114,302,922 (GRCm39) N586S probably damaging Het
Gm45861 T A 8: 27,995,043 (GRCm39) S472T unknown Het
Gm5800 G A 14: 51,951,995 (GRCm39) A89V possibly damaging Het
Gpalpp1 A G 14: 76,344,792 (GRCm39) S64P probably damaging Het
Hbq1a T C 11: 32,250,400 (GRCm39) V63A probably damaging Het
Htr7 A G 19: 36,034,490 (GRCm39) V55A probably benign Het
Ica1 T A 6: 8,667,362 (GRCm39) D268V probably benign Het
Ipo8 T C 6: 148,678,730 (GRCm39) E956G probably damaging Het
Itprid2 G A 2: 79,475,180 (GRCm39) E380K probably benign Het
Jarid2 G T 13: 44,994,326 (GRCm39) V13L Het
Kdr T C 5: 76,109,428 (GRCm39) D983G probably damaging Het
Klhl23 C G 2: 69,664,083 (GRCm39) I477M possibly damaging Het
Kpna2 G T 11: 106,882,039 (GRCm39) H262Q possibly damaging Het
Lcor C T 19: 41,573,698 (GRCm39) R818W probably damaging Het
Lrrc17 G A 5: 21,766,033 (GRCm39) E172K probably benign Het
Lrrc45 A T 11: 120,606,649 (GRCm39) I184F possibly damaging Het
Med11 A G 11: 70,342,910 (GRCm39) T36A probably benign Het
Mtf2 A G 5: 108,252,133 (GRCm39) D423G probably benign Het
Ndfip2 A G 14: 105,525,157 (GRCm39) D146G probably benign Het
Nfat5 A G 8: 108,094,536 (GRCm39) I926V probably benign Het
Paqr6 T A 3: 88,273,328 (GRCm39) S107T probably damaging Het
Pdgfrb G A 18: 61,201,291 (GRCm39) S459N probably null Het
Pld5 T A 1: 175,917,474 (GRCm39) H153L probably benign Het
Pmfbp1 A G 8: 110,263,244 (GRCm39) R788G possibly damaging Het
Smok2a A C 17: 13,445,825 (GRCm39) R467S probably damaging Het
Sncaip A C 18: 53,039,973 (GRCm39) K722N probably damaging Het
Sycp2 A G 2: 177,989,214 (GRCm39) probably null Het
Syne2 T A 12: 75,950,994 (GRCm39) W382R probably damaging Het
Tiam2 T C 17: 3,561,407 (GRCm39) V1324A probably damaging Het
Tmem120b A T 5: 123,236,307 (GRCm39) I47F probably damaging Het
Tubg2 G A 11: 101,049,957 (GRCm39) C201Y probably damaging Het
Umodl1 A G 17: 31,192,677 (GRCm39) E268G probably damaging Het
Zfyve26 T G 12: 79,318,915 (GRCm39) D1141A probably damaging 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
R2101:Cacnb1 UTSW 11 97,896,554 (GRCm39) missense probably damaging 1.00
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
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'- TTTCTCCTGAGCGAGGTGAG -3'
(R):5'- TTTCCCTATCCCTAGAATGAGAGG -3'

Sequencing Primer
(F):5'- TGAGCACCTGTACCTGGAG -3'
(R):5'- CCTAGAATGAGAGGGAGTTGGGC -3'
Posted On 2021-11-19