Incidental Mutation 'IGL02941:Cacnb2'
ID 364516
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacnb2
Ensembl Gene ENSMUSG00000057914
Gene Name calcium channel, voltage-dependent, beta 2 subunit
Synonyms Cchb2, Cavbeta2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02941
Quality Score
Status
Chromosome 2
Chromosomal Location 14607899-14992719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 14963640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 85 (V85I)
Ref Sequence ENSEMBL: ENSMUSP00000110367 (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 probably benign
Transcript: ENSMUST00000114719
AA Change: V85I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: V85I

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 probably benign
Transcript: ENSMUST00000114723
AA Change: V129I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: V129I

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: ENSMUST00000123719
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148676
Predicted Effect probably benign
Transcript: ENSMUST00000193800
AA Change: V79I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: V79I

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: ENSMUST00000193452
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156027
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193262
Predicted Effect probably benign
Transcript: ENSMUST00000193522
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 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik G A 7: 50,249,284 (GRCm39) R106Q probably damaging Het
Amhr2 T C 15: 102,355,724 (GRCm39) V223A probably damaging Het
Aqr T A 2: 113,943,835 (GRCm39) H1101L probably damaging Het
Arnt T A 3: 95,367,681 (GRCm39) probably benign Het
Cast A T 13: 74,848,806 (GRCm39) D727E probably damaging Het
Ccdc134 C T 15: 82,025,151 (GRCm39) R217W probably damaging Het
Cemip2 G A 19: 21,801,207 (GRCm39) D775N possibly damaging Het
Col5a3 A G 9: 20,715,962 (GRCm39) S360P unknown Het
Cyp4f16 T C 17: 32,756,061 (GRCm39) I30T possibly damaging Het
Dop1b T C 16: 93,552,361 (GRCm39) F267L probably benign Het
Fbxo3 A G 2: 103,880,639 (GRCm39) T250A probably damaging Het
Gm4953 C T 1: 158,995,963 (GRCm39) noncoding transcript Het
Gm9242 T C 16: 97,292,279 (GRCm39) probably benign Het
Gsr G A 8: 34,179,453 (GRCm39) V354I probably damaging Het
H2bc21 A G 3: 96,128,732 (GRCm39) Y84C possibly damaging Het
Hecw1 T A 13: 14,552,311 (GRCm39) D96V probably damaging Het
Il18r1 A G 1: 40,537,711 (GRCm39) Y492C probably damaging Het
Itgb5 T G 16: 33,764,465 (GRCm39) probably benign Het
Lars2 T G 9: 123,288,650 (GRCm39) L832R probably damaging Het
Ms4a6c A G 19: 11,448,466 (GRCm39) probably benign Het
Nrxn1 T C 17: 90,515,811 (GRCm39) S1227G probably damaging Het
Or1j11 T C 2: 36,312,132 (GRCm39) C241R probably damaging Het
Or2c1 T C 16: 3,657,680 (GRCm39) V281A possibly damaging Het
Or52r1c A G 7: 102,735,528 (GRCm39) T263A probably benign Het
Pcdh17 A G 14: 84,685,747 (GRCm39) Y738C probably damaging Het
Pcsk5 C A 19: 17,424,865 (GRCm39) C1646F probably damaging Het
Pirb A G 7: 3,720,377 (GRCm39) V332A probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polrmt A T 10: 79,573,092 (GRCm39) probably benign Het
Saxo1 G T 4: 86,363,821 (GRCm39) R221S probably damaging Het
Specc1l A G 10: 75,077,022 (GRCm39) I93V probably benign Het
St8sia2 T A 7: 73,626,397 (GRCm39) probably benign Het
Tep1 A T 14: 51,103,494 (GRCm39) N265K probably damaging Het
Thbd A T 2: 148,248,954 (GRCm39) Y305N probably damaging Het
Tmem120a T C 5: 135,764,605 (GRCm39) T325A probably damaging Het
Vill G A 9: 118,895,955 (GRCm39) probably benign Het
Wdr35 A G 12: 9,077,507 (GRCm39) D1060G probably damaging Het
Xrn2 T A 2: 146,868,444 (GRCm39) F166I probably damaging Het
Zc3h7a T G 16: 10,976,458 (GRCm39) probably null Het
Zdhhc13 G A 7: 48,466,886 (GRCm39) probably benign Het
Zfp808 T A 13: 62,320,944 (GRCm39) N724K possibly 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
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
R6114:Cacnb2 UTSW 2 14,980,012 (GRCm39) missense possibly damaging 0.88
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
Posted On 2015-12-18