Incidental Mutation 'IGL00961:Cacnb4'
ID26973
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacnb4
Ensembl Gene ENSMUSG00000017412
Gene Namecalcium channel, voltage-dependent, beta 4 subunit
SynonymsCchb4, 3110038O15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.240) question?
Stock #IGL00961
Quality Score
Status
Chromosome2
Chromosomal Location52428320-52676831 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 52477712 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 82 (I82F)
Ref Sequence ENSEMBL: ENSMUSP00000077438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078324] [ENSMUST00000102760] [ENSMUST00000102761] [ENSMUST00000178799]
PDB Structure
BETA4 SUBUNIT OF CA2+ CHANNEL [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000078324
AA Change: I82F

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077438
Gene: ENSMUSG00000017412
AA Change: I82F

DomainStartEndE-ValueType
Pfam:VGCC_beta4Aa_N 49 90 5.4e-27 PFAM
SH3 94 159 4.96e-2 SMART
low complexity region 172 189 N/A INTRINSIC
low complexity region 193 206 N/A INTRINSIC
GuKc 217 398 3.46e-37 SMART
low complexity region 465 481 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102760
AA Change: I49F

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000099821
Gene: ENSMUSG00000017412
AA Change: I49F

DomainStartEndE-ValueType
Pfam:VGCC_beta4Aa_N 16 57 9.4e-28 PFAM
SH3 61 126 4.96e-2 SMART
low complexity region 139 156 N/A INTRINSIC
low complexity region 160 173 N/A INTRINSIC
GuKc 184 365 3.46e-37 SMART
low complexity region 432 448 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102761
AA Change: I36F

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000099822
Gene: ENSMUSG00000017412
AA Change: I36F

DomainStartEndE-ValueType
Pfam:VGCC_beta4Aa_N 3 44 4.8e-27 PFAM
SH3 48 113 4.96e-2 SMART
low complexity region 126 143 N/A INTRINSIC
low complexity region 147 160 N/A INTRINSIC
GuKc 171 352 3.46e-37 SMART
low complexity region 419 435 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178799
AA Change: I82F

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136811
Gene: ENSMUSG00000017412
AA Change: I82F

DomainStartEndE-ValueType
Pfam:VGCC_beta4Aa_N 49 90 1.3e-24 PFAM
SH3 94 159 4.96e-2 SMART
low complexity region 172 189 N/A INTRINSIC
GuKc 217 398 3.46e-37 SMART
low complexity region 465 481 N/A INTRINSIC
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 member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function 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. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutants have lethargic behavior, unstable gait and seizures, with peripheral motor nerves showing reduced conduction velocity and prolonged distal latency. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921522P10Rik C A 8: 8,663,425 probably benign Het
Arfgef3 T A 10: 18,611,237 I1350F probably damaging Het
Arfip1 A G 3: 84,497,788 V236A probably benign Het
Bicc1 A G 10: 70,961,157 I124T probably damaging Het
Card11 A T 5: 140,899,709 M365K probably damaging Het
Chd2 A G 7: 73,444,249 S1560P probably damaging Het
Depdc1a T A 3: 159,523,814 N594K possibly damaging Het
Dmbx1 A T 4: 115,920,006 V215E probably benign Het
Farp2 A T 1: 93,621,313 E1047V possibly damaging Het
Gm21759 A T 5: 8,179,731 probably benign Het
Gpr182 C T 10: 127,750,690 V131I probably benign Het
Irx1 T C 13: 71,959,957 D202G probably damaging Het
Lrp6 T C 6: 134,507,646 D338G probably damaging Het
Nrxn3 A T 12: 90,204,546 I241L possibly damaging Het
Parp6 A G 9: 59,632,959 Y265C probably damaging Het
Prex1 G T 2: 166,585,736 Q999K probably damaging Het
Rad54b T C 4: 11,599,699 I301T probably damaging Het
Rnf213 A T 11: 119,440,843 I2294F possibly damaging Het
Ska3 T C 14: 57,822,124 I81M possibly damaging Het
Smap1 T C 1: 23,848,274 N308S probably benign Het
Stag3 A G 5: 138,298,349 K490E probably benign Het
Stk11ip C T 1: 75,530,266 R664C probably damaging Het
Tmem176b T A 6: 48,834,070 I259F possibly damaging Het
Usp37 T C 1: 74,490,155 T122A probably benign Het
Vmn2r7 T C 3: 64,715,813 E453G possibly damaging Het
Other mutations in Cacnb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Cacnb4 APN 2 52464625 missense probably damaging 1.00
IGL01801:Cacnb4 APN 2 52434711 missense probably benign 0.15
IGL01992:Cacnb4 APN 2 52465670 missense probably damaging 1.00
IGL03030:Cacnb4 APN 2 52474882 missense probably damaging 1.00
R0789:Cacnb4 UTSW 2 52451883 missense probably damaging 1.00
R1069:Cacnb4 UTSW 2 52455611 missense probably damaging 1.00
R1646:Cacnb4 UTSW 2 52474900 missense possibly damaging 0.87
R2050:Cacnb4 UTSW 2 52469586 missense probably damaging 0.99
R3939:Cacnb4 UTSW 2 52469489 missense probably damaging 1.00
R3941:Cacnb4 UTSW 2 52469489 missense probably damaging 1.00
R4455:Cacnb4 UTSW 2 52465653 missense probably damaging 1.00
R4497:Cacnb4 UTSW 2 52477771 missense probably damaging 1.00
R4707:Cacnb4 UTSW 2 52474915 missense probably benign 0.45
R4824:Cacnb4 UTSW 2 52675810 missense probably benign 0.00
R4957:Cacnb4 UTSW 2 52558291 missense probably damaging 0.99
R5913:Cacnb4 UTSW 2 52434784 intron probably benign
R6372:Cacnb4 UTSW 2 52434667 missense probably benign 0.00
R6945:Cacnb4 UTSW 2 52474954 missense probably damaging 1.00
Posted On2013-04-17