Incidental Mutation 'R3941:Cacnb4'
| ID |
307433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacnb4
|
| Ensembl Gene |
ENSMUSG00000017412 |
| Gene Name |
calcium channel, voltage-dependent, beta 4 subunit |
| Synonyms |
Cchb4, 3110038O15Rik |
| MMRRC Submission |
040923-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R3941 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
52318332-52566816 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 52359501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 169
(R169L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078324]
[ENSMUST00000102760]
[ENSMUST00000102761]
[ENSMUST00000178799]
|
| AlphaFold |
Q8R0S4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078324
AA Change: R169L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077438
Gene: ENSMUSG00000017412
AA Change: R169L
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000102760
AA Change: R136L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099821
Gene: ENSMUSG00000017412
AA Change: R136L
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000102761
AA Change: R123L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099822
Gene: ENSMUSG00000017412
AA Change: R123L
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000178799
AA Change: R169L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136811
Gene: ENSMUSG00000017412
AA Change: R169L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Meta Mutation Damage Score |
0.1684 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
98% (55/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,214,263 (GRCm39) |
T193S |
probably benign |
Het |
| Arhgap11a |
A |
T |
2: 113,667,242 (GRCm39) |
L435Q |
probably damaging |
Het |
| Bin1 |
T |
C |
18: 32,539,211 (GRCm39) |
V48A |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Btn1a1 |
T |
G |
13: 23,643,434 (GRCm39) |
R338S |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,916,455 (GRCm39) |
T404A |
probably benign |
Het |
| Cd2ap |
G |
C |
17: 43,119,690 (GRCm39) |
H488D |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,375,467 (GRCm39) |
T498A |
probably benign |
Het |
| Cngb3 |
A |
G |
4: 19,396,786 (GRCm39) |
N380D |
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,817,033 (GRCm39) |
S426F |
unknown |
Het |
| Cr2 |
A |
T |
1: 194,848,122 (GRCm39) |
H345Q |
probably damaging |
Het |
| Cttnbp2 |
T |
A |
6: 18,427,452 (GRCm39) |
K743M |
probably benign |
Het |
| Depdc1b |
T |
C |
13: 108,505,370 (GRCm39) |
S245P |
probably damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,124,825 (GRCm39) |
H2016Y |
probably benign |
Het |
| Eif2s3y |
G |
T |
Y: 1,012,079 (GRCm39) |
R98L |
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,753,167 (GRCm39) |
G915S |
probably damaging |
Het |
| Fcgr1 |
A |
G |
3: 96,193,349 (GRCm39) |
L216P |
probably benign |
Het |
| Fpr-rs3 |
T |
C |
17: 20,845,111 (GRCm39) |
N10S |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
| Gabrr3 |
A |
G |
16: 59,253,864 (GRCm39) |
N194D |
probably damaging |
Het |
| Hey1 |
A |
G |
3: 8,729,638 (GRCm39) |
L273P |
probably damaging |
Het |
| Irf6 |
A |
G |
1: 192,850,857 (GRCm39) |
K365E |
probably benign |
Het |
| Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,389,265 (GRCm39) |
A3217V |
probably damaging |
Het |
| Mei4 |
C |
T |
9: 81,809,336 (GRCm39) |
R140C |
probably benign |
Het |
| Mir100hg |
T |
C |
9: 41,501,570 (GRCm39) |
L143P |
probably damaging |
Het |
| Mpo |
A |
T |
11: 87,688,175 (GRCm39) |
K278M |
probably benign |
Het |
| Mprip |
T |
C |
11: 59,622,328 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
G |
C |
6: 122,040,522 (GRCm39) |
G691R |
probably benign |
Het |
| Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
| Nipal4 |
C |
T |
11: 46,041,473 (GRCm39) |
V241M |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,330,551 (GRCm39) |
L615* |
probably null |
Het |
| Pcdh1 |
A |
G |
18: 38,332,511 (GRCm39) |
V164A |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,641,037 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
A |
G |
12: 76,620,133 (GRCm39) |
E623G |
probably damaging |
Het |
| Psors1c2 |
G |
T |
17: 35,844,825 (GRCm39) |
G29* |
probably null |
Het |
| Slc25a54 |
A |
T |
3: 109,019,479 (GRCm39) |
D361V |
probably damaging |
Het |
| Slc39a12 |
A |
T |
2: 14,400,992 (GRCm39) |
H123L |
possibly damaging |
Het |
| Sorl1 |
T |
C |
9: 41,900,764 (GRCm39) |
|
probably null |
Het |
| Strn |
A |
T |
17: 78,965,369 (GRCm39) |
I641N |
probably damaging |
Het |
| Tapbp |
A |
G |
17: 34,139,457 (GRCm39) |
E151G |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,343,445 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
G |
A |
17: 43,348,901 (GRCm39) |
C171Y |
probably damaging |
Het |
| Ttyh1 |
T |
A |
7: 4,132,317 (GRCm39) |
L155H |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,587,329 (GRCm39) |
|
probably null |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,393 (GRCm39) |
V78A |
probably benign |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,682 (GRCm39) |
Y167H |
probably damaging |
Het |
| Washc1 |
T |
C |
17: 66,425,123 (GRCm39) |
S376P |
probably damaging |
Het |
| Wnt10a |
T |
A |
1: 74,842,656 (GRCm39) |
|
probably null |
Het |
| Xrcc4 |
A |
G |
13: 90,219,752 (GRCm39) |
V16A |
probably benign |
Het |
| Zeb1 |
T |
C |
18: 5,767,799 (GRCm39) |
V770A |
probably benign |
Het |
| Zfp410 |
A |
G |
12: 84,385,527 (GRCm39) |
N90S |
probably damaging |
Het |
|
| Other mutations in Cacnb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00961:Cacnb4
|
APN |
2 |
52,367,724 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01328:Cacnb4
|
APN |
2 |
52,354,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01801:Cacnb4
|
APN |
2 |
52,324,723 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01992:Cacnb4
|
APN |
2 |
52,355,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03030:Cacnb4
|
APN |
2 |
52,364,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0789:Cacnb4
|
UTSW |
2 |
52,341,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1069:Cacnb4
|
UTSW |
2 |
52,345,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Cacnb4
|
UTSW |
2 |
52,364,912 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2050:Cacnb4
|
UTSW |
2 |
52,359,598 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3939:Cacnb4
|
UTSW |
2 |
52,359,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4455:Cacnb4
|
UTSW |
2 |
52,355,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4497:Cacnb4
|
UTSW |
2 |
52,367,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Cacnb4
|
UTSW |
2 |
52,364,927 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4824:Cacnb4
|
UTSW |
2 |
52,565,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4957:Cacnb4
|
UTSW |
2 |
52,448,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5913:Cacnb4
|
UTSW |
2 |
52,324,796 (GRCm39) |
intron |
probably benign |
|
|
R6372:Cacnb4
|
UTSW |
2 |
52,324,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6945:Cacnb4
|
UTSW |
2 |
52,364,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Cacnb4
|
UTSW |
2 |
52,359,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7821:Cacnb4
|
UTSW |
2 |
52,324,520 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8015:Cacnb4
|
UTSW |
2 |
52,354,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8043:Cacnb4
|
UTSW |
2 |
52,355,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8181:Cacnb4
|
UTSW |
2 |
52,364,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8376:Cacnb4
|
UTSW |
2 |
52,354,665 (GRCm39) |
nonsense |
probably null |
|
|
R8466:Cacnb4
|
UTSW |
2 |
52,354,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8765:Cacnb4
|
UTSW |
2 |
52,327,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9018:Cacnb4
|
UTSW |
2 |
52,324,706 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9574:Cacnb4
|
UTSW |
2 |
52,327,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9624:Cacnb4
|
UTSW |
2 |
52,364,942 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9778:Cacnb4
|
UTSW |
2 |
52,359,615 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Cacnb4
|
UTSW |
2 |
52,565,824 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAAGAACCCAACTTCCTG -3'
(R):5'- TGAGATGTGAGGGTAACTGAATTAC -3'
Sequencing Primer
(F):5'- TCCAACAGAAAACAGAGGTTGAGTC -3'
(R):5'- GAATTACTATTGAGGGTAGCTTTCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation