Incidental Mutation 'IGL02349:Cacnb3'
ID289438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacnb3
Ensembl Gene ENSMUSG00000003352
Gene Namecalcium channel, voltage-dependent, beta 3 subunit
SynonymsCchb3, Beta3
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.553) question?
Stock #IGL02349
Quality Score
Status
Chromosome15
Chromosomal Location98630840-98644529 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 98640961 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 159 (K159*)
Ref Sequence ENSEMBL: ENSMUSP00000155514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003442] [ENSMUST00000003450] [ENSMUST00000109150] [ENSMUST00000230490]
Predicted Effect probably null
Transcript: ENSMUST00000003442
AA Change: K159*
SMART Domains Protein: ENSMUSP00000003442
Gene: ENSMUSG00000003352
AA Change: K159*

DomainStartEndE-ValueType
Pfam:VGCC_beta4Aa_N 16 58 8.7e-22 PFAM
SH3 62 125 1.04e0 SMART
GuKc 176 357 1.3e-32 SMART
low complexity region 363 379 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000003450
SMART Domains Protein: ENSMUSP00000003450
Gene: ENSMUSG00000003360

DomainStartEndE-ValueType
coiled coil region 63 93 N/A INTRINSIC
low complexity region 110 130 N/A INTRINSIC
low complexity region 143 159 N/A INTRINSIC
coiled coil region 161 200 N/A INTRINSIC
low complexity region 210 223 N/A INTRINSIC
coiled coil region 320 352 N/A INTRINSIC
DEXDc 409 641 2.95e-65 SMART
HELICc 677 758 2.43e-34 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109150
AA Change: K158*
SMART Domains Protein: ENSMUSP00000104778
Gene: ENSMUSG00000003352
AA Change: K158*

DomainStartEndE-ValueType
Pfam:VGCC_beta4Aa_N 15 57 2.2e-21 PFAM
SH3 61 124 1.04e0 SMART
GuKc 175 356 1.3e-32 SMART
low complexity region 362 378 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230064
Predicted Effect probably null
Transcript: ENSMUST00000230490
AA Change: K159*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230769
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 regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for a null allele show altered Ca2+ channel activity, hyporesponsiveness to DHP, high blood pressure on a high salt diet, and impaired calcium responses and cytokine production in CD4 T cells. Homozygotes for another null allele show enhancedNMDA activity and long term potentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,406,464 I484V probably benign Het
Acly C T 11: 100,519,679 E158K probably benign Het
Akap3 T A 6: 126,860,263 D3E probably benign Het
Alg8 A G 7: 97,379,894 N152S possibly damaging Het
Ano7 A G 1: 93,391,490 T323A probably benign Het
Bmp1 T C 14: 70,507,549 Y252C possibly damaging Het
Capns2 T A 8: 92,902,062 V193D probably benign Het
Cct2 A G 10: 117,053,139 I48T probably benign Het
Cep152 A G 2: 125,594,956 S555P probably damaging Het
Col5a3 T C 9: 20,772,361 E1533G unknown Het
Cyp17a1 A G 19: 46,667,497 L451P probably damaging Het
D1Ertd622e A G 1: 97,646,052 L96P probably damaging Het
Dgcr8 T C 16: 18,280,306 E407G possibly damaging Het
Dhx57 T A 17: 80,255,571 N876Y probably damaging Het
Dnah7b T A 1: 46,099,503 L235* probably null Het
Fgfr2 A G 7: 130,242,606 Y50H probably damaging Het
Gars T A 6: 55,048,064 probably benign Het
Gfpt2 A T 11: 49,807,703 I42F probably benign Het
Glcci1 A G 6: 8,558,581 K35E probably damaging Het
Gpatch1 T A 7: 35,307,255 M163L probably damaging Het
Gpr132 T C 12: 112,852,855 Y117C probably damaging Het
Ints1 G A 5: 139,768,468 P650S probably damaging Het
Itga2b T C 11: 102,461,363 D464G probably damaging Het
Kansl2 C A 15: 98,529,446 G185C probably damaging Het
Kat6b T A 14: 21,637,593 M570K probably damaging Het
Map3k19 T A 1: 127,823,769 D615V possibly damaging Het
Map3k7cl A G 16: 87,556,013 probably benign Het
Msto1 A C 3: 88,910,898 S360R possibly damaging Het
Myo15b C A 11: 115,863,105 probably benign Het
Nhlrc2 T C 19: 56,591,719 V428A possibly damaging Het
Olfr33 G A 7: 102,714,126 R96C probably damaging Het
Olfr348 A C 2: 36,787,046 T174P possibly damaging Het
Olfr470 A G 7: 107,845,605 S43P probably benign Het
Olfr568 A T 7: 102,877,909 Y263F probably benign Het
Olfr61 T C 7: 140,638,471 F257L probably benign Het
Olfr874 T A 9: 37,746,206 M24K probably benign Het
Pcm1 G T 8: 41,288,155 probably null Het
Plekhg3 A T 12: 76,562,300 N149I probably damaging Het
Rbp3 C A 14: 33,955,719 H541Q probably damaging Het
Rgp1 T C 4: 43,581,236 probably null Het
Scyl2 A T 10: 89,657,938 probably benign Het
Tas2r144 A C 6: 42,216,076 H250P probably benign Het
Tmppe T C 9: 114,405,200 V189A probably benign Het
Trp53bp1 G A 2: 121,199,074 S1875L probably damaging Het
Txnl4a T A 18: 80,218,729 L60H probably damaging Het
Upp2 A G 2: 58,777,886 D217G probably benign Het
Vmn2r74 A G 7: 85,952,516 L638P probably damaging Het
Vnn1 A G 10: 23,898,503 N148S possibly damaging Het
Xrcc1 C T 7: 24,567,042 Q241* probably null Het
Zfp990 A G 4: 145,530,877 probably benign Het
Other mutations in Cacnb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01142:Cacnb3 APN 15 98642002 nonsense probably null
IGL01298:Cacnb3 APN 15 98639853 missense probably damaging 1.00
IGL01535:Cacnb3 APN 15 98639588 missense probably benign 0.02
IGL01537:Cacnb3 APN 15 98643420 missense probably damaging 1.00
IGL02304:Cacnb3 APN 15 98642382 missense probably damaging 1.00
R0270:Cacnb3 UTSW 15 98642559 missense probably damaging 0.98
R1677:Cacnb3 UTSW 15 98642574 missense probably damaging 1.00
R3407:Cacnb3 UTSW 15 98641187 missense probably benign 0.19
R3408:Cacnb3 UTSW 15 98641187 missense probably benign 0.19
R4160:Cacnb3 UTSW 15 98640720 missense probably damaging 1.00
R5123:Cacnb3 UTSW 15 98639869 missense probably damaging 1.00
R5356:Cacnb3 UTSW 15 98641617 missense probably damaging 0.96
R7773:Cacnb3 UTSW 15 98639938 critical splice donor site probably null
Posted On2015-04-16