Incidental Mutation 'R7820:Cacnb2'
| ID |
601796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacnb2
|
| Ensembl Gene |
ENSMUSG00000057914 |
| Gene Name |
calcium channel, voltage-dependent, beta 2 subunit |
| Synonyms |
Cchb2, Cavbeta2 |
| MMRRC Submission |
045874-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7820 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
14607899-14992719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14965477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 152
(N152K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114719]
[ENSMUST00000114723]
[ENSMUST00000193800]
|
| AlphaFold |
Q8CC27 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114719
AA Change: N108K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: N108K
| 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 damaging
Transcript: ENSMUST00000114723
AA Change: N152K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: N152K
| 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 benign
Transcript: ENSMUST00000193522
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193800
AA Change: N102K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: N102K
| 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 |
0.5123 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (49/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
T |
A |
7: 50,249,371 (GRCm39) |
I135N |
probably benign |
Het |
| Abca14 |
A |
T |
7: 119,811,944 (GRCm39) |
N175I |
probably benign |
Het |
| Adam12 |
A |
G |
7: 133,599,917 (GRCm39) |
V99A |
probably benign |
Het |
| Ankfn1 |
G |
T |
11: 89,311,956 (GRCm39) |
P730T |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,867,983 (GRCm39) |
S847P |
probably damaging |
Het |
| Cacna1i |
C |
T |
15: 80,256,573 (GRCm39) |
A989V |
probably benign |
Het |
| Cemip2 |
C |
T |
19: 21,784,825 (GRCm39) |
A436V |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,244,064 (GRCm39) |
Y1334N |
probably damaging |
Het |
| Cimap1a |
A |
C |
7: 140,429,176 (GRCm39) |
T128P |
probably benign |
Het |
| Clca4a |
A |
T |
3: 144,666,432 (GRCm39) |
D473E |
probably damaging |
Het |
| Crhr2 |
A |
C |
6: 55,079,764 (GRCm39) |
I191S |
probably damaging |
Het |
| Eef1akmt3 |
T |
C |
10: 126,869,063 (GRCm39) |
Q137R |
possibly damaging |
Het |
| Eml1 |
T |
C |
12: 108,481,433 (GRCm39) |
I432T |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,819,784 (GRCm39) |
T2504A |
probably benign |
Het |
| Hmgxb4 |
G |
T |
8: 75,727,574 (GRCm39) |
E186* |
probably null |
Het |
| Ighv16-1 |
T |
C |
12: 114,032,589 (GRCm39) |
N71S |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,468,100 (GRCm39) |
V61A |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,567,685 (GRCm39) |
G1679R |
unknown |
Het |
| Mast4 |
G |
A |
13: 102,890,596 (GRCm39) |
S1086L |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,682,692 (GRCm39) |
E724G |
possibly damaging |
Het |
| Mfap5 |
C |
A |
6: 122,497,880 (GRCm39) |
D51E |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,778,511 (GRCm39) |
L245P |
probably damaging |
Het |
| Mtx1 |
G |
T |
3: 89,121,315 (GRCm39) |
H106Q |
probably benign |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Ngp |
A |
G |
9: 110,249,932 (GRCm39) |
T77A |
probably benign |
Het |
| Oca2 |
A |
T |
7: 55,981,713 (GRCm39) |
I612F |
probably damaging |
Het |
| Or11a4 |
A |
T |
17: 37,536,786 (GRCm39) |
M257L |
probably benign |
Het |
| Or4c119 |
T |
A |
2: 88,986,592 (GRCm39) |
D309V |
probably benign |
Het |
| Or8b3 |
A |
T |
9: 38,314,862 (GRCm39) |
I228F |
probably damaging |
Het |
| Otop3 |
T |
A |
11: 115,230,414 (GRCm39) |
V97D |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,893,837 (GRCm39) |
|
probably benign |
Het |
| Pdc |
T |
C |
1: 150,209,021 (GRCm39) |
I168T |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Plekha7 |
A |
T |
7: 115,836,715 (GRCm39) |
F18I |
probably benign |
Het |
| Plppr4 |
A |
G |
3: 117,115,598 (GRCm39) |
I753T |
possibly damaging |
Het |
| Pms2 |
T |
G |
5: 143,851,451 (GRCm39) |
S123A |
possibly damaging |
Het |
| Pou4f2 |
T |
A |
8: 79,163,131 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
A |
T |
13: 63,670,875 (GRCm39) |
L885Q |
probably damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rgs11 |
T |
A |
17: 26,424,169 (GRCm39) |
|
probably null |
Het |
| Samd3 |
T |
A |
10: 26,109,416 (GRCm39) |
|
probably null |
Het |
| Slit3 |
A |
G |
11: 35,591,235 (GRCm39) |
D1349G |
probably benign |
Het |
| Sorbs2 |
A |
T |
8: 46,249,593 (GRCm39) |
Q868L |
probably null |
Het |
| Speer4f1 |
T |
A |
5: 17,684,528 (GRCm39) |
S185R |
probably damaging |
Het |
| Spin2f |
A |
G |
X: 30,905,635 (GRCm39) |
K28R |
probably benign |
Het |
| Tas2r125 |
T |
G |
6: 132,886,841 (GRCm39) |
I76M |
probably benign |
Het |
| Tex15 |
A |
T |
8: 34,065,090 (GRCm39) |
I1507F |
probably damaging |
Het |
| Vmn1r215 |
A |
T |
13: 23,260,715 (GRCm39) |
I252F |
probably damaging |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,652 (GRCm39) |
F12S |
possibly damaging |
Het |
| Zfp128 |
A |
G |
7: 12,624,949 (GRCm39) |
Y439C |
probably benign |
Het |
| Zfp764l1 |
A |
T |
7: 126,990,608 (GRCm39) |
W460R |
possibly damaging |
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 |
|
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'- TGGGCACACACTTTTCTGAG -3'
(R):5'- TAAGGATCACAGCACTCAGC -3'
Sequencing Primer
(F):5'- GGCACACACTTTTCTGAGCTGAAC -3'
(R):5'- AGCGAGGACAACGTCTGC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation