Incidental Mutation 'R7971:Cacnb2'
| ID |
650589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacnb2
|
| Ensembl Gene |
ENSMUSG00000057914 |
| Gene Name |
calcium channel, voltage-dependent, beta 2 subunit |
| Synonyms |
Cchb2, Cavbeta2 |
| MMRRC Submission |
046014-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7971 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
14607899-14992719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14976409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 277
(M277L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114719]
[ENSMUST00000114723]
[ENSMUST00000193800]
|
| AlphaFold |
Q8CC27 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114719
AA Change: M233L
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: M233L
| 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 |
possibly damaging
Transcript: ENSMUST00000114723
AA Change: M277L
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: M277L
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193800
AA Change: M227L
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: M227L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (46/47) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530401A14Rik |
G |
A |
11: 81,754,526 (GRCm39) |
A16T |
unknown |
Het |
| Abcc1 |
T |
A |
16: 14,266,443 (GRCm39) |
D880E |
probably benign |
Het |
| Adamts2 |
G |
A |
11: 50,647,523 (GRCm39) |
V299I |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,186,578 (GRCm39) |
S1331P |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,605,661 (GRCm39) |
L1968S |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Cd80 |
T |
A |
16: 38,294,391 (GRCm39) |
Y91* |
probably null |
Het |
| Cfap46 |
A |
G |
7: 139,215,043 (GRCm39) |
S1561P |
unknown |
Het |
| Clasp1 |
C |
T |
1: 118,449,559 (GRCm39) |
R647W |
probably damaging |
Het |
| Creld1 |
T |
C |
6: 113,468,933 (GRCm39) |
V299A |
probably benign |
Het |
| Csk |
C |
A |
9: 57,535,970 (GRCm39) |
G260V |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dgkg |
G |
A |
16: 22,388,966 (GRCm39) |
Q403* |
probably null |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,119 (GRCm39) |
D314G |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,376,499 (GRCm39) |
L1428Q |
probably damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,537,703 (GRCm39) |
V293A |
probably benign |
Het |
| Gm4353 |
C |
A |
7: 115,682,747 (GRCm39) |
S278I |
possibly damaging |
Het |
| Hmgb2 |
A |
G |
8: 57,966,168 (GRCm39) |
M75V |
possibly damaging |
Het |
| Hoxa4 |
G |
A |
6: 52,168,711 (GRCm39) |
|
probably benign |
Het |
| Ifi206 |
A |
T |
1: 173,298,976 (GRCm39) |
W877R |
unknown |
Het |
| Ifi44 |
T |
A |
3: 151,454,857 (GRCm39) |
I123F |
possibly damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,908,353 (GRCm39) |
Y323C |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,351,631 (GRCm39) |
T858A |
probably benign |
Het |
| Mest |
T |
A |
6: 30,740,734 (GRCm39) |
I38N |
|
Het |
| Npy2r |
A |
T |
3: 82,448,175 (GRCm39) |
I200N |
probably damaging |
Het |
| Olfm4 |
T |
A |
14: 80,259,240 (GRCm39) |
M496K |
probably damaging |
Het |
| Olfml2a |
A |
T |
2: 38,831,794 (GRCm39) |
|
probably null |
Het |
| Omd |
A |
T |
13: 49,743,730 (GRCm39) |
H260L |
probably benign |
Het |
| Or8c16 |
G |
T |
9: 38,130,843 (GRCm39) |
L238F |
probably benign |
Het |
| Pigk |
C |
A |
3: 152,450,176 (GRCm39) |
Q274K |
probably benign |
Het |
| Pmpca |
G |
A |
2: 26,283,164 (GRCm39) |
G352R |
probably damaging |
Het |
| Prex1 |
C |
T |
2: 166,423,859 (GRCm39) |
S1181N |
probably damaging |
Het |
| Prkg2 |
A |
T |
5: 99,079,873 (GRCm39) |
F762Y |
probably damaging |
Het |
| Rcc1l |
A |
G |
5: 134,194,208 (GRCm39) |
S250P |
probably damaging |
Het |
| Rufy1 |
A |
T |
11: 50,312,498 (GRCm39) |
F152Y |
probably damaging |
Het |
| Scaf1 |
T |
A |
7: 44,652,965 (GRCm39) |
T1179S |
unknown |
Het |
| Sh3d19 |
A |
G |
3: 86,022,103 (GRCm39) |
D511G |
probably benign |
Het |
| Shroom3 |
C |
T |
5: 93,098,933 (GRCm39) |
S1471L |
probably damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,248,695 (GRCm39) |
L484P |
probably damaging |
Het |
| Slc35a1 |
T |
C |
4: 34,664,161 (GRCm39) |
D319G |
probably benign |
Het |
| Synm |
T |
C |
7: 67,384,983 (GRCm39) |
E893G |
possibly damaging |
Het |
| Tatdn2 |
A |
G |
6: 113,687,235 (GRCm39) |
|
probably null |
Het |
| Thada |
T |
A |
17: 84,580,197 (GRCm39) |
D1419V |
possibly damaging |
Het |
| Tmem87b |
A |
G |
2: 128,692,250 (GRCm39) |
D535G |
probably null |
Het |
| Tnfrsf25 |
A |
C |
4: 152,204,193 (GRCm39) |
Q378P |
probably damaging |
Het |
| Trim34a |
T |
C |
7: 103,897,025 (GRCm39) |
C30R |
probably damaging |
Het |
| Triml2 |
T |
C |
8: 43,643,313 (GRCm39) |
S212P |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
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 |
|
|
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 |
|
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'- AGTTTCAGTGCAAGGAGACC -3'
(R):5'- CCAAGGCAACCTTTAGGAAACG -3'
Sequencing Primer
(F):5'- TGCAAGGAGACCAAAGACTATTC -3'
(R):5'- GGCAACCTTTAGGAAACGAATAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation