Incidental Mutation 'R6158:Cacnb2'
| ID |
489674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacnb2
|
| Ensembl Gene |
ENSMUSG00000057914 |
| Gene Name |
calcium channel, voltage-dependent, beta 2 subunit |
| Synonyms |
Cchb2, Cavbeta2 |
| MMRRC Submission |
044305-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6158 (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 G
at 14990412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 454
(D454G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114719]
[ENSMUST00000114723]
[ENSMUST00000193800]
|
| AlphaFold |
Q8CC27 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114719
AA Change: D454G
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: D454G
| 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 benign
Transcript: ENSMUST00000114723
AA Change: D498G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: D498G
| 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 |
noncoding transcript
Transcript: ENSMUST00000144423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193262
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193452
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193800
AA Change: D448G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: D448G
| 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 |
|
| Meta Mutation Damage Score |
0.0691 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.5%
- 20x: 92.6%
|
| Validation Efficiency |
98% (65/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,217,410 (GRCm39) |
V793A |
possibly damaging |
Het |
| 2900092C05Rik |
A |
G |
7: 12,246,599 (GRCm39) |
T32A |
probably benign |
Het |
| Adprhl1 |
C |
T |
8: 13,274,977 (GRCm39) |
V594M |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,496,220 (GRCm39) |
Y845N |
probably damaging |
Het |
| Arhgap24 |
A |
T |
5: 103,040,778 (GRCm39) |
I575L |
probably benign |
Het |
| Aurka |
A |
C |
2: 172,205,516 (GRCm39) |
|
probably null |
Het |
| C1qtnf5 |
A |
T |
9: 44,020,267 (GRCm39) |
|
probably benign |
Het |
| Chchd5 |
T |
C |
2: 128,972,437 (GRCm39) |
L87P |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,793,671 (GRCm39) |
R1377L |
unknown |
Het |
| Cpne8 |
A |
C |
15: 90,456,191 (GRCm39) |
S191A |
probably damaging |
Het |
| Dhx30 |
A |
T |
9: 109,916,098 (GRCm39) |
I671N |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,495,642 (GRCm39) |
K1423N |
possibly damaging |
Het |
| Dnm3 |
T |
C |
1: 162,148,556 (GRCm39) |
M272V |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,037,411 (GRCm39) |
S3688C |
possibly damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,285,401 (GRCm39) |
L1407F |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,378,037 (GRCm39) |
S410P |
probably damaging |
Het |
| Gm11565 |
T |
A |
11: 99,805,744 (GRCm39) |
C45* |
probably null |
Het |
| Gngt1 |
A |
T |
6: 3,994,311 (GRCm39) |
R30* |
probably null |
Het |
| Htt |
T |
C |
5: 35,064,430 (GRCm39) |
I2943T |
possibly damaging |
Het |
| Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
| Lmo7 |
T |
A |
14: 102,137,573 (GRCm39) |
D247E |
probably benign |
Het |
| Mastl |
G |
T |
2: 23,022,784 (GRCm39) |
N646K |
possibly damaging |
Het |
| Mei4 |
G |
T |
9: 81,809,629 (GRCm39) |
L237F |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,969,430 (GRCm39) |
P170S |
possibly damaging |
Het |
| Mgam |
T |
A |
6: 40,734,648 (GRCm39) |
I896K |
probably damaging |
Het |
| Mix23 |
T |
A |
16: 35,910,299 (GRCm39) |
V118D |
probably damaging |
Het |
| Moxd1 |
T |
A |
10: 24,160,675 (GRCm39) |
C443S |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 113,022,038 (GRCm39) |
N451K |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,121,602 (GRCm39) |
I768V |
probably benign |
Het |
| Nos1 |
A |
C |
5: 118,005,639 (GRCm39) |
I120L |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,393,434 (GRCm39) |
V345A |
probably benign |
Het |
| Or1j15 |
A |
T |
2: 36,459,128 (GRCm39) |
T173S |
probably benign |
Het |
| Or2aj5 |
C |
A |
16: 19,424,675 (GRCm39) |
V248F |
probably damaging |
Het |
| Or4c11c |
T |
C |
2: 88,661,490 (GRCm39) |
F10L |
probably damaging |
Het |
| Or5t15 |
A |
G |
2: 86,681,859 (GRCm39) |
L61P |
possibly damaging |
Het |
| Or8g50 |
C |
T |
9: 39,648,372 (GRCm39) |
T87I |
probably benign |
Het |
| Pdzph1 |
T |
G |
17: 59,280,622 (GRCm39) |
Q553H |
probably damaging |
Het |
| Piwil1 |
T |
A |
5: 128,824,940 (GRCm39) |
L546* |
probably null |
Het |
| Pla2g4f |
T |
C |
2: 120,131,552 (GRCm39) |
T724A |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,266,596 (GRCm39) |
M660K |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,679,767 (GRCm39) |
D103G |
possibly damaging |
Het |
| Rnf186 |
A |
G |
4: 138,694,565 (GRCm39) |
D35G |
probably damaging |
Het |
| Rock2 |
A |
G |
12: 17,004,919 (GRCm39) |
D424G |
probably benign |
Het |
| Scg2 |
A |
T |
1: 79,413,117 (GRCm39) |
D495E |
probably damaging |
Het |
| Slc39a2 |
G |
A |
14: 52,131,681 (GRCm39) |
|
probably null |
Het |
| Snrnp48 |
T |
A |
13: 38,394,212 (GRCm39) |
Y100* |
probably null |
Het |
| Spaca1 |
A |
G |
4: 34,029,176 (GRCm39) |
M99T |
probably damaging |
Het |
| Specc1 |
T |
G |
11: 62,008,950 (GRCm39) |
F235L |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,283,802 (GRCm39) |
|
probably null |
Het |
| Swap70 |
T |
A |
7: 109,869,230 (GRCm39) |
M341K |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,036,487 (GRCm39) |
D67G |
probably benign |
Het |
| Tmem135 |
T |
A |
7: 88,805,652 (GRCm39) |
I251F |
probably benign |
Het |
| Tmem87a |
A |
T |
2: 120,190,584 (GRCm39) |
|
probably null |
Het |
| Tom1l2 |
C |
T |
11: 60,123,753 (GRCm39) |
D128N |
probably damaging |
Het |
| Tpx2 |
C |
A |
2: 152,715,024 (GRCm39) |
H82N |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,738,733 (GRCm39) |
C738S |
possibly damaging |
Het |
| Ttyh1 |
A |
G |
7: 4,128,561 (GRCm39) |
T153A |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,566,566 (GRCm39) |
G1199S |
probably benign |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,274 (GRCm39) |
N108K |
probably benign |
Het |
| Vmn2r63 |
T |
A |
7: 42,583,104 (GRCm39) |
D37V |
probably damaging |
Het |
| Vwce |
C |
T |
19: 10,621,585 (GRCm39) |
R206C |
possibly damaging |
Het |
| Wrn |
G |
T |
8: 33,809,200 (GRCm39) |
F265L |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,363 (GRCm39) |
C479* |
probably null |
Het |
| Zfp831 |
A |
T |
2: 174,485,651 (GRCm39) |
T109S |
possibly damaging |
Het |
| Znfx1 |
G |
T |
2: 166,898,646 (GRCm39) |
Q93K |
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 |
|
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'- AAGTTGTGCCACTAGGTGTTTC -3'
(R):5'- TTGGGTTTCAGAGTCAAACGTC -3'
Sequencing Primer
(F):5'- TCCAATAGCTGACTGTGAGC -3'
(R):5'- AGAGTCAAACGTCTCTTGCCTAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation