Incidental Mutation 'PIT4498001:Cacnb2'
| ID |
556045 |
| Institutional Source |
Beutler Lab
|
| 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)
|
| Stock # |
PIT4498001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
14607899-14992719 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 14879630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 84
(L84*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114719]
[ENSMUST00000114723]
[ENSMUST00000193800]
[ENSMUST00000195841]
|
| AlphaFold |
Q8CC27 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000114719
AA Change: L40*
|
| SMART Domains |
Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: L40*
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000114723
AA Change: L84*
|
| SMART Domains |
Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: L84*
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably null
Transcript: ENSMUST00000193800
AA Change: L34*
|
| SMART Domains |
Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: L34*
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
unknown
Transcript: ENSMUST00000195841
AA Change: W45R
|
| Coding Region Coverage |
- 1x: 93.2%
- 3x: 91.0%
- 10x: 86.1%
- 20x: 75.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
T |
C |
19: 40,562,800 (GRCm39) |
N191S |
probably benign |
Het |
| Cdhr2 |
C |
T |
13: 54,866,052 (GRCm39) |
T284M |
possibly damaging |
Het |
| Defb45 |
T |
C |
2: 152,438,394 (GRCm39) |
|
probably benign |
Het |
| Dkk3 |
C |
T |
7: 111,718,679 (GRCm39) |
V236M |
probably benign |
Het |
| Dscc1 |
A |
T |
15: 54,945,711 (GRCm39) |
V328D |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,372,889 (GRCm39) |
Y938C |
probably damaging |
Het |
| Erc1 |
A |
T |
6: 119,756,452 (GRCm39) |
F435I |
possibly damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,908,323 (GRCm39) |
Y626C |
possibly damaging |
Het |
| Fmn2 |
A |
G |
1: 174,440,170 (GRCm39) |
R1196G |
probably damaging |
Het |
| Gabrr1 |
C |
T |
4: 33,160,225 (GRCm39) |
S303F |
probably damaging |
Het |
| Ggt1 |
T |
C |
10: 75,414,689 (GRCm39) |
V169A |
possibly damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gm3182 |
T |
A |
14: 4,481,832 (GRCm38) |
C9S |
probably damaging |
Het |
| Gpr88 |
A |
C |
3: 116,046,264 (GRCm39) |
S16A |
unknown |
Het |
| Kalrn |
A |
T |
16: 33,851,952 (GRCm39) |
M2076K |
possibly damaging |
Het |
| Katnip |
A |
G |
7: 125,412,768 (GRCm39) |
T371A |
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,566,025 (GRCm39) |
I402T |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,489,714 (GRCm39) |
D57G |
probably benign |
Het |
| Ncl |
T |
C |
1: 86,279,162 (GRCm39) |
T584A |
possibly damaging |
Het |
| Nfx1 |
A |
T |
4: 40,977,244 (GRCm39) |
Q306L |
probably benign |
Het |
| Ogdh |
A |
T |
11: 6,290,504 (GRCm39) |
D374V |
probably benign |
Het |
| Or5d39 |
T |
A |
2: 87,980,259 (GRCm39) |
T35S |
probably benign |
Het |
| Pak5 |
T |
A |
2: 135,925,211 (GRCm39) |
H697L |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,234,469 (GRCm39) |
C1425R |
probably damaging |
Het |
| Pramel26 |
T |
C |
4: 143,539,406 (GRCm39) |
E29G |
possibly damaging |
Het |
| Rab3gap2 |
T |
A |
1: 185,013,882 (GRCm39) |
I1196N |
probably damaging |
Het |
| Ralyl |
A |
T |
3: 14,172,299 (GRCm39) |
D56V |
probably damaging |
Het |
| Scin |
C |
T |
12: 40,119,446 (GRCm39) |
|
probably null |
Het |
| Slc25a19 |
T |
C |
11: 115,514,781 (GRCm39) |
I69V |
possibly damaging |
Het |
| Slc8a1 |
G |
T |
17: 81,956,269 (GRCm39) |
Y256* |
probably null |
Het |
| Smyd1 |
T |
C |
6: 71,196,272 (GRCm39) |
H372R |
probably benign |
Het |
| St8sia1 |
T |
C |
6: 142,859,848 (GRCm39) |
T94A |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,527,916 (GRCm39) |
M1391K |
possibly damaging |
Het |
| Tlr9 |
G |
A |
9: 106,100,721 (GRCm39) |
R4H |
probably benign |
Het |
| Trim50 |
A |
G |
5: 135,382,331 (GRCm39) |
D61G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,597,295 (GRCm39) |
P19873S |
probably damaging |
Het |
| Vmn1r228 |
G |
T |
17: 20,996,772 (GRCm39) |
H249N |
probably benign |
Het |
| Vmn2r108 |
C |
T |
17: 20,683,279 (GRCm39) |
G642S |
probably damaging |
Het |
| Wdr27 |
A |
G |
17: 15,154,831 (GRCm39) |
S29P |
probably benign |
Het |
| Zan |
A |
G |
5: 137,415,298 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cacnb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL02941:Cacnb2
|
APN |
2 |
14,963,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT1430001:Cacnb2
|
UTSW |
2 |
14,976,412 (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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTAATGAAGAATGTGCAGGGC -3'
(R):5'- TACTCCAGTGGATCAGGCAG -3'
Sequencing Primer
(F):5'- GCTGCCAAATGGATTGTTTTCTC -3'
(R):5'- CAGGAGATTCAGGGGATCCATCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation