Incidental Mutation 'R7800:Cacnb1'
| ID |
600487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacnb1
|
| Ensembl Gene |
ENSMUSG00000020882 |
| Gene Name |
calcium channel, voltage-dependent, beta 1 subunit |
| Synonyms |
Cchb1, Cchlb1 |
| MMRRC Submission |
045855-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7800 (G1)
|
| Quality Score |
188.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97892339-97913860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 97900121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 346
(I346L)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000017552
AA Change: I346L
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000017552
Gene: ENSMUSG00000020882
AA Change: I346L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000092736
AA Change: I391L
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090412
Gene: ENSMUSG00000020882
AA Change: I391L
| Domain | Start | End | E-Value | Type |
|---|
|
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: I391L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099433
Gene: ENSMUSG00000020882
AA Change: I391L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000107561
AA Change: I344L
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103186
Gene: ENSMUSG00000020882
AA Change: I344L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000107562
AA Change: I346L
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103187
Gene: ENSMUSG00000020882
AA Change: I346L
| Domain | Start | End | E-Value | Type |
|---|
|
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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (47/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,078,698 (GRCm39) |
D1264G |
probably benign |
Het |
| Ace |
T |
C |
11: 105,876,884 (GRCm39) |
F1122S |
probably damaging |
Het |
| Actr10 |
T |
G |
12: 70,990,283 (GRCm39) |
Y112D |
probably benign |
Het |
| Camsap2 |
T |
C |
1: 136,209,639 (GRCm39) |
T607A |
probably damaging |
Het |
| Cby3 |
T |
C |
11: 50,250,175 (GRCm39) |
F32S |
probably damaging |
Het |
| Cers5 |
G |
T |
15: 99,634,122 (GRCm39) |
H409N |
probably benign |
Het |
| Ces1h |
A |
T |
8: 94,106,322 (GRCm39) |
L11H |
|
Het |
| Clcnkb |
T |
C |
4: 141,141,833 (GRCm39) |
Y51C |
probably benign |
Het |
| Cnnm2 |
A |
G |
19: 46,866,420 (GRCm39) |
E856G |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,491,690 (GRCm39) |
V378A |
probably benign |
Het |
| Crisp4 |
A |
C |
1: 18,198,973 (GRCm39) |
S154A |
probably benign |
Het |
| Disp1 |
C |
T |
1: 182,880,550 (GRCm39) |
R241Q |
probably benign |
Het |
| Ermard |
G |
A |
17: 15,277,065 (GRCm39) |
R429H |
probably benign |
Het |
| Extl1 |
C |
T |
4: 134,098,929 (GRCm39) |
G34D |
probably benign |
Het |
| Gen1 |
T |
C |
12: 11,291,863 (GRCm39) |
D707G |
probably benign |
Het |
| H1f3 |
C |
A |
13: 23,739,541 (GRCm39) |
T93N |
possibly damaging |
Het |
| Igkv5-37 |
A |
C |
6: 69,940,499 (GRCm39) |
S48R |
possibly damaging |
Het |
| Ilvbl |
C |
T |
10: 78,419,809 (GRCm39) |
A571V |
possibly damaging |
Het |
| Itgb1 |
A |
G |
8: 129,439,718 (GRCm39) |
K136E |
possibly damaging |
Het |
| Lhx8 |
A |
G |
3: 154,027,284 (GRCm39) |
F253L |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,562,594 (GRCm39) |
T459A |
possibly damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,636,621 (GRCm39) |
Y574C |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,396,635 (GRCm39) |
|
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 77,952,488 (GRCm39) |
R576S |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,041,904 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or2ag12 |
A |
G |
7: 106,276,781 (GRCm39) |
V304A |
probably benign |
Het |
| Or8b53 |
T |
G |
9: 38,667,914 (GRCm39) |
L310W |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,722,376 (GRCm39) |
Y326F |
probably damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,064,426 (GRCm39) |
D363E |
probably damaging |
Het |
| Pcdhb3 |
T |
A |
18: 37,434,974 (GRCm39) |
N313K |
probably benign |
Het |
| Pcdhb9 |
A |
C |
18: 37,534,602 (GRCm39) |
S199R |
probably benign |
Het |
| Pde4dip |
C |
T |
3: 97,622,599 (GRCm39) |
D1537N |
probably damaging |
Het |
| Pinx1 |
A |
G |
14: 64,156,984 (GRCm39) |
K304E |
probably benign |
Het |
| Pnlip |
T |
C |
19: 58,670,134 (GRCm39) |
V458A |
probably benign |
Het |
| Polr3a |
C |
A |
14: 24,534,455 (GRCm39) |
M60I |
probably null |
Het |
| Qrich2 |
G |
T |
11: 116,347,686 (GRCm39) |
S1046* |
probably null |
Het |
| Rigi |
T |
C |
4: 40,211,618 (GRCm39) |
E650G |
probably benign |
Het |
| Rps6ka5 |
G |
A |
12: 100,524,824 (GRCm39) |
P638S |
probably damaging |
Het |
| Slc6a13 |
T |
A |
6: 121,298,658 (GRCm39) |
N158K |
probably damaging |
Het |
| Sord |
T |
C |
2: 122,089,561 (GRCm39) |
V187A |
probably damaging |
Het |
| Sult2a2 |
A |
G |
7: 13,468,710 (GRCm39) |
T59A |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,896,558 (GRCm39) |
D777G |
probably damaging |
Het |
| Tmed9 |
A |
G |
13: 55,743,345 (GRCm39) |
D159G |
probably benign |
Het |
| Trbc1 |
A |
G |
6: 41,516,195 (GRCm39) |
I142V |
|
Het |
| Usp17ld |
A |
G |
7: 102,900,041 (GRCm39) |
V297A |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,069 (GRCm39) |
*316R |
probably null |
Het |
| Wdr59 |
C |
A |
8: 112,248,570 (GRCm39) |
R15L |
|
Het |
| Zfp189 |
C |
T |
4: 49,529,367 (GRCm39) |
P157S |
possibly damaging |
Het |
| Zfp407 |
C |
T |
18: 84,578,800 (GRCm39) |
G771D |
probably damaging |
Het |
|
| Other mutations in Cacnb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
R9067:Cacnb1
|
UTSW |
11 |
97,896,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACAGCGTACCCGACTCTTTC -3'
(R):5'- TCATTGAGCGCTCCAACACG -3'
Sequencing Primer
(F):5'- TCCACCCATATTAGGTTGTGTAG -3'
(R):5'- AACACGCGTTCCAGCCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation