Incidental Mutation 'R7792:Cacna1b'
| ID |
599910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1b
|
| Ensembl Gene |
ENSMUSG00000004113 |
| Gene Name |
calcium channel, voltage-dependent, N type, alpha 1B subunit |
| Synonyms |
alpha(1B), Cav2.2, Cchn1a |
| MMRRC Submission |
045848-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7792 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24493899-24653164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24567977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 1037
(L1037H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041342]
[ENSMUST00000070864]
[ENSMUST00000100348]
[ENSMUST00000102939]
[ENSMUST00000114447]
[ENSMUST00000124183]
|
| AlphaFold |
O55017 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041342
AA Change: L1037H
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113
AA Change: L1037H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
133 |
355 |
1.2e-57 |
PFAM |
|
PDB:4DEX|B
|
358 |
467 |
8e-66 |
PDB |
|
Pfam:Ion_trans
|
516 |
708 |
1.1e-47 |
PFAM |
|
Pfam:PKD_channel
|
569 |
715 |
2.3e-7 |
PFAM |
|
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
858 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
913 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
933 |
N/A |
INTRINSIC |
|
low complexity region
|
1091 |
1102 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1174 |
1408 |
2.7e-52 |
PFAM |
|
Pfam:Ion_trans
|
1498 |
1698 |
1.2e-59 |
PFAM |
|
Pfam:PKD_channel
|
1551 |
1705 |
8.1e-9 |
PFAM |
|
Ca_chan_IQ
|
1837 |
1871 |
1.09e-11 |
SMART |
|
low complexity region
|
2040 |
2050 |
N/A |
INTRINSIC |
|
low complexity region
|
2092 |
2114 |
N/A |
INTRINSIC |
|
low complexity region
|
2276 |
2292 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070864
AA Change: L1036H
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113
AA Change: L1036H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
133 |
355 |
1.4e-57 |
PFAM |
|
PDB:4DEX|B
|
358 |
467 |
8e-66 |
PDB |
|
Pfam:Ion_trans
|
516 |
708 |
1.2e-47 |
PFAM |
|
Pfam:PKD_channel
|
569 |
715 |
1.5e-7 |
PFAM |
|
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
857 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
912 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
932 |
N/A |
INTRINSIC |
|
low complexity region
|
1090 |
1101 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1173 |
1403 |
1.8e-52 |
PFAM |
|
Pfam:Ion_trans
|
1493 |
1695 |
5.4e-60 |
PFAM |
|
Pfam:PKD_channel
|
1544 |
1702 |
4.9e-9 |
PFAM |
|
Ca_chan_IQ
|
1798 |
1832 |
7.2e-12 |
SMART |
|
low complexity region
|
2001 |
2011 |
N/A |
INTRINSIC |
|
low complexity region
|
2053 |
2075 |
N/A |
INTRINSIC |
|
low complexity region
|
2237 |
2253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100348
AA Change: L1038H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113
AA Change: L1038H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
133 |
355 |
1.4e-57 |
PFAM |
|
PDB:4DEX|B
|
358 |
468 |
5e-68 |
PDB |
|
Pfam:Ion_trans
|
517 |
709 |
1.2e-47 |
PFAM |
|
Pfam:PKD_channel
|
570 |
716 |
1.6e-7 |
PFAM |
|
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
917 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
1092 |
1103 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1175 |
1409 |
3.2e-52 |
PFAM |
|
Pfam:Ion_trans
|
1499 |
1699 |
1.4e-59 |
PFAM |
|
Pfam:PKD_channel
|
1552 |
1706 |
5.6e-9 |
PFAM |
|
Ca_chan_IQ
|
1838 |
1872 |
1.09e-11 |
SMART |
|
low complexity region
|
2041 |
2051 |
N/A |
INTRINSIC |
|
low complexity region
|
2093 |
2115 |
N/A |
INTRINSIC |
|
low complexity region
|
2277 |
2293 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102939
AA Change: L1037H
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113
AA Change: L1037H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
133 |
355 |
1.4e-57 |
PFAM |
|
PDB:4DEX|B
|
358 |
467 |
1e-65 |
PDB |
|
Pfam:Ion_trans
|
516 |
708 |
1.2e-47 |
PFAM |
|
Pfam:PKD_channel
|
569 |
715 |
1.6e-7 |
PFAM |
|
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
858 |
N/A |
INTRINSIC |
|
low complexity region
|
903 |
913 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
933 |
N/A |
INTRINSIC |
|
low complexity region
|
1091 |
1102 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1174 |
1404 |
1.9e-52 |
PFAM |
|
Pfam:Ion_trans
|
1494 |
1696 |
5.5e-60 |
PFAM |
|
Pfam:PKD_channel
|
1545 |
1703 |
5e-9 |
PFAM |
|
Ca_chan_IQ
|
1835 |
1869 |
1.09e-11 |
SMART |
|
low complexity region
|
2038 |
2048 |
N/A |
INTRINSIC |
|
low complexity region
|
2090 |
2112 |
N/A |
INTRINSIC |
|
low complexity region
|
2274 |
2290 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114447
AA Change: L1038H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113
AA Change: L1038H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
94 |
367 |
8.5e-69 |
PFAM |
|
Pfam:Ion_trans
|
482 |
721 |
2.4e-57 |
PFAM |
|
Pfam:PKD_channel
|
571 |
715 |
1e-7 |
PFAM |
|
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
917 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
1092 |
1103 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1139 |
1421 |
1.3e-62 |
PFAM |
|
Pfam:Ion_trans
|
1464 |
1711 |
3.2e-64 |
PFAM |
|
Pfam:PKD_channel
|
1550 |
1706 |
2.7e-9 |
PFAM |
|
Pfam:GPHH
|
1713 |
1783 |
1.9e-39 |
PFAM |
|
Ca_chan_IQ
|
1838 |
1872 |
1.09e-11 |
SMART |
|
low complexity region
|
2041 |
2051 |
N/A |
INTRINSIC |
|
low complexity region
|
2093 |
2115 |
N/A |
INTRINSIC |
|
low complexity region
|
2277 |
2293 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124183
|
| SMART Domains |
Protein: ENSMUSP00000114605
Gene: ENSMUSG00000004113
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (97/97) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice deficient in this gene exhibit defects in nociception, memory and learning. They also exhibit hyperactive and hyperaggressive behaviors as well as defects in the the sleep-wake cycle. Deficits in the sympathetic nervous system results in defects in circulatory regulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
T |
8: 111,769,896 (GRCm39) |
V332F |
possibly damaging |
Het |
| Abhd15 |
T |
A |
11: 77,409,560 (GRCm39) |
S425T |
probably benign |
Het |
| Acads |
A |
T |
5: 115,250,840 (GRCm39) |
F152L |
probably damaging |
Het |
| Acp3 |
T |
A |
9: 104,204,165 (GRCm39) |
H43L |
probably damaging |
Het |
| Adora2a |
A |
G |
10: 75,169,480 (GRCm39) |
S315G |
probably benign |
Het |
| Agxt2 |
A |
T |
15: 10,381,472 (GRCm39) |
D242V |
probably damaging |
Het |
| Alx4 |
A |
G |
2: 93,473,056 (GRCm39) |
D18G |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,610,970 (GRCm39) |
S2639P |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,295,453 (GRCm39) |
V1204D |
possibly damaging |
Het |
| Arid2 |
A |
G |
15: 96,267,256 (GRCm39) |
T579A |
probably benign |
Het |
| B4galt1 |
C |
T |
4: 40,809,373 (GRCm39) |
G332S |
probably benign |
Het |
| B4galt4 |
C |
A |
16: 38,578,172 (GRCm39) |
Y206* |
probably null |
Het |
| Bcl2l14 |
A |
T |
6: 134,409,277 (GRCm39) |
T284S |
possibly damaging |
Het |
| Bop1 |
C |
T |
15: 76,338,548 (GRCm39) |
V465M |
probably damaging |
Het |
| Cadm2 |
G |
A |
16: 66,568,523 (GRCm39) |
T254M |
probably benign |
Het |
| Ccdc180 |
T |
C |
4: 45,890,389 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
A |
T |
8: 129,618,918 (GRCm39) |
D875E |
possibly damaging |
Het |
| Cenpu |
A |
G |
8: 47,015,502 (GRCm39) |
D139G |
possibly damaging |
Het |
| Cep57l1 |
A |
T |
10: 41,598,936 (GRCm39) |
C292* |
probably null |
Het |
| Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
| Chst14 |
A |
G |
2: 118,758,256 (GRCm39) |
H350R |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,455,492 (GRCm39) |
I434F |
possibly damaging |
Het |
| Crispld2 |
A |
G |
8: 120,757,809 (GRCm39) |
T385A |
probably benign |
Het |
| Crmp1 |
A |
C |
5: 37,441,439 (GRCm39) |
N507T |
probably damaging |
Het |
| Cyp4f40 |
T |
A |
17: 32,890,143 (GRCm39) |
I271N |
probably damaging |
Het |
| D630003M21Rik |
G |
T |
2: 158,052,082 (GRCm39) |
Q670K |
possibly damaging |
Het |
| Ddx42 |
T |
C |
11: 106,127,822 (GRCm39) |
I342T |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,740,839 (GRCm39) |
I4116F |
probably damaging |
Het |
| Ehd2 |
T |
C |
7: 15,684,683 (GRCm39) |
H372R |
probably benign |
Het |
| Gja8 |
C |
A |
3: 96,827,092 (GRCm39) |
C190F |
probably damaging |
Het |
| Gm8297 |
A |
T |
14: 16,165,939 (GRCm39) |
D72V |
possibly damaging |
Het |
| Golgb1 |
A |
G |
16: 36,739,092 (GRCm39) |
D2518G |
probably benign |
Het |
| Hsd17b12 |
C |
A |
2: 93,863,986 (GRCm39) |
M285I |
probably benign |
Het |
| Hus1 |
T |
C |
11: 8,950,133 (GRCm39) |
E196G |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,807,273 (GRCm39) |
N413S |
probably benign |
Het |
| Irf2 |
G |
A |
8: 47,260,314 (GRCm39) |
R82Q |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,779,493 (GRCm39) |
D259G |
possibly damaging |
Het |
| Jph1 |
T |
A |
1: 17,074,602 (GRCm39) |
Q472L |
probably benign |
Het |
| Kif2a |
T |
C |
13: 107,124,490 (GRCm39) |
Q142R |
probably benign |
Het |
| Lonp1 |
T |
C |
17: 56,929,515 (GRCm39) |
Y174C |
probably damaging |
Het |
| Mapk14 |
T |
C |
17: 28,965,271 (GRCm39) |
F348L |
probably damaging |
Het |
| Marchf10 |
G |
T |
11: 105,281,054 (GRCm39) |
D410E |
probably benign |
Het |
| Mff |
A |
T |
1: 82,724,802 (GRCm39) |
|
probably null |
Het |
| Mtrex |
A |
T |
13: 113,009,443 (GRCm39) |
D985E |
probably benign |
Het |
| Necab3 |
G |
A |
2: 154,388,200 (GRCm39) |
R271C |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,021,182 (GRCm39) |
F556L |
possibly damaging |
Het |
| Nt5c2 |
T |
C |
19: 46,878,385 (GRCm39) |
K425E |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,296,302 (GRCm39) |
W511R |
probably damaging |
Het |
| Or1j18 |
A |
C |
2: 36,624,342 (GRCm39) |
E3A |
probably benign |
Het |
| Or2v1 |
T |
A |
11: 49,025,496 (GRCm39) |
I159N |
possibly damaging |
Het |
| Or4k77 |
T |
C |
2: 111,199,748 (GRCm39) |
I257T |
probably benign |
Het |
| Or52p2 |
T |
A |
7: 102,238,090 (GRCm39) |
|
probably benign |
Het |
| P2rx2 |
G |
C |
5: 110,488,210 (GRCm39) |
A448G |
possibly damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,618,757 (GRCm39) |
N56K |
possibly damaging |
Het |
| Pdzd7 |
A |
C |
19: 45,028,657 (GRCm39) |
M162R |
possibly damaging |
Het |
| Phyhd1 |
A |
G |
2: 30,156,782 (GRCm39) |
M1V |
probably null |
Het |
| Plaat3 |
T |
C |
19: 7,556,660 (GRCm39) |
C154R |
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,534,950 (GRCm39) |
E1126G |
possibly damaging |
Het |
| Plekhm1 |
A |
T |
11: 103,287,886 (GRCm39) |
V87D |
probably damaging |
Het |
| Pole |
G |
A |
5: 110,445,332 (GRCm39) |
|
probably null |
Het |
| Pramel22 |
A |
G |
4: 143,381,123 (GRCm39) |
L300P |
probably benign |
Het |
| R3hcc1 |
T |
C |
14: 69,942,957 (GRCm39) |
M207V |
probably benign |
Het |
| R3hcc1l |
T |
A |
19: 42,552,403 (GRCm39) |
S467T |
probably damaging |
Het |
| Rasgrp4 |
G |
T |
7: 28,842,527 (GRCm39) |
R267L |
probably damaging |
Het |
| Rbm20 |
T |
C |
19: 53,838,567 (GRCm39) |
I848T |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,061,923 (GRCm39) |
S56P |
possibly damaging |
Het |
| Rmc1 |
G |
A |
18: 12,314,656 (GRCm39) |
D289N |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,447,222 (GRCm39) |
D3089E |
probably benign |
Het |
| Sall2 |
C |
T |
14: 52,553,521 (GRCm39) |
G16R |
probably damaging |
Het |
| Scgb1b19 |
G |
A |
7: 32,987,912 (GRCm39) |
C93Y |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,297,334 (GRCm39) |
K1442* |
probably null |
Het |
| Sepsecs |
A |
G |
5: 52,801,391 (GRCm39) |
S424P |
probably damaging |
Het |
| Set |
G |
T |
2: 29,960,323 (GRCm39) |
V219F |
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,868,295 (GRCm39) |
F390I |
probably damaging |
Het |
| Simc1 |
G |
A |
13: 54,695,143 (GRCm39) |
V1269M |
probably damaging |
Het |
| Ska3 |
T |
G |
14: 58,047,512 (GRCm39) |
D341A |
probably damaging |
Het |
| Slc16a10 |
A |
T |
10: 39,913,411 (GRCm39) |
|
probably null |
Het |
| Srgap1 |
T |
A |
10: 121,761,872 (GRCm39) |
N92I |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,431,624 (GRCm39) |
V639A |
probably damaging |
Het |
| Stk11 |
A |
T |
10: 79,961,271 (GRCm39) |
|
probably benign |
Het |
| Sult5a1 |
G |
A |
8: 123,872,180 (GRCm39) |
H221Y |
probably benign |
Het |
| Sytl3 |
T |
A |
17: 7,003,977 (GRCm39) |
M559K |
probably benign |
Het |
| Tab2 |
A |
C |
10: 7,794,897 (GRCm39) |
D528E |
possibly damaging |
Het |
| Tbc1d15 |
A |
G |
10: 115,057,492 (GRCm39) |
I218T |
possibly damaging |
Het |
| Tenm4 |
T |
A |
7: 96,423,221 (GRCm39) |
M672K |
possibly damaging |
Het |
| Tent4b |
A |
T |
8: 88,979,182 (GRCm39) |
Q561L |
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,437,985 (GRCm39) |
K346R |
probably benign |
Het |
| Thsd1 |
G |
T |
8: 22,733,114 (GRCm39) |
G54W |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,800,275 (GRCm39) |
L618I |
probably damaging |
Het |
| Top3a |
T |
C |
11: 60,633,790 (GRCm39) |
S769G |
probably benign |
Het |
| Trp63 |
C |
A |
16: 25,686,974 (GRCm39) |
P396Q |
possibly damaging |
Het |
| Uggt1 |
T |
C |
1: 36,247,065 (GRCm39) |
S311G |
probably damaging |
Het |
| Usp10 |
G |
A |
8: 120,678,740 (GRCm39) |
E574K |
possibly damaging |
Het |
| Wfdc6b |
T |
A |
2: 164,459,822 (GRCm39) |
I148K |
probably damaging |
Het |
| Zcchc2 |
T |
G |
1: 105,945,982 (GRCm39) |
I474R |
probably damaging |
Het |
| Zdhhc2 |
A |
G |
8: 40,900,182 (GRCm39) |
K82R |
probably benign |
Het |
| Zfp273 |
A |
G |
13: 67,974,135 (GRCm39) |
D421G |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,238,601 (GRCm39) |
I639T |
probably damaging |
Het |
| Zfp429 |
A |
T |
13: 67,538,558 (GRCm39) |
C295* |
probably null |
Het |
|
| Other mutations in Cacna1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Cacna1b
|
APN |
2 |
24,541,212 (GRCm39) |
nonsense |
probably null |
|
|
IGL00508:Cacna1b
|
APN |
2 |
24,547,301 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01085:Cacna1b
|
APN |
2 |
24,569,006 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01310:Cacna1b
|
APN |
2 |
24,575,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01361:Cacna1b
|
APN |
2 |
24,569,107 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01471:Cacna1b
|
APN |
2 |
24,547,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01537:Cacna1b
|
APN |
2 |
24,548,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01547:Cacna1b
|
APN |
2 |
24,522,047 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01750:Cacna1b
|
APN |
2 |
24,544,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01813:Cacna1b
|
APN |
2 |
24,499,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01939:Cacna1b
|
APN |
2 |
24,551,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01955:Cacna1b
|
APN |
2 |
24,529,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01972:Cacna1b
|
APN |
2 |
24,525,107 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01987:Cacna1b
|
APN |
2 |
24,587,579 (GRCm39) |
splice site |
probably null |
|
|
IGL02096:Cacna1b
|
APN |
2 |
24,568,927 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02111:Cacna1b
|
APN |
2 |
24,497,003 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02254:Cacna1b
|
APN |
2 |
24,506,827 (GRCm39) |
splice site |
probably null |
|
|
IGL03084:Cacna1b
|
APN |
2 |
24,499,944 (GRCm39) |
missense |
probably benign |
|
|
IGL03184:Cacna1b
|
APN |
2 |
24,548,501 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03202:Cacna1b
|
APN |
2 |
24,541,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03210:Cacna1b
|
APN |
2 |
24,540,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03402:Cacna1b
|
APN |
2 |
24,652,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4283001:Cacna1b
|
UTSW |
2 |
24,521,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Cacna1b
|
UTSW |
2 |
24,648,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Cacna1b
|
UTSW |
2 |
24,648,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Cacna1b
|
UTSW |
2 |
24,497,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0208:Cacna1b
|
UTSW |
2 |
24,497,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Cacna1b
|
UTSW |
2 |
24,528,669 (GRCm39) |
unclassified |
probably benign |
|
|
R0265:Cacna1b
|
UTSW |
2 |
24,651,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0352:Cacna1b
|
UTSW |
2 |
24,515,244 (GRCm39) |
intron |
probably benign |
|
|
R0376:Cacna1b
|
UTSW |
2 |
24,549,015 (GRCm39) |
splice site |
probably benign |
|
|
R0383:Cacna1b
|
UTSW |
2 |
24,651,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0432:Cacna1b
|
UTSW |
2 |
24,577,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0595:Cacna1b
|
UTSW |
2 |
24,540,001 (GRCm39) |
splice site |
probably benign |
|
|
R0660:Cacna1b
|
UTSW |
2 |
24,544,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0664:Cacna1b
|
UTSW |
2 |
24,544,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1107:Cacna1b
|
UTSW |
2 |
24,587,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Cacna1b
|
UTSW |
2 |
24,577,757 (GRCm39) |
splice site |
probably null |
|
|
R1445:Cacna1b
|
UTSW |
2 |
24,608,148 (GRCm39) |
splice site |
probably benign |
|
|
R1446:Cacna1b
|
UTSW |
2 |
24,596,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1496:Cacna1b
|
UTSW |
2 |
24,568,047 (GRCm39) |
missense |
probably benign |
|
|
R1614:Cacna1b
|
UTSW |
2 |
24,580,819 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1626:Cacna1b
|
UTSW |
2 |
24,496,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Cacna1b
|
UTSW |
2 |
24,506,891 (GRCm39) |
missense |
probably null |
0.80 |
|
R1984:Cacna1b
|
UTSW |
2 |
24,538,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:Cacna1b
|
UTSW |
2 |
24,538,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1989:Cacna1b
|
UTSW |
2 |
24,611,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Cacna1b
|
UTSW |
2 |
24,622,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Cacna1b
|
UTSW |
2 |
24,622,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Cacna1b
|
UTSW |
2 |
24,622,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2098:Cacna1b
|
UTSW |
2 |
24,540,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Cacna1b
|
UTSW |
2 |
24,569,485 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2196:Cacna1b
|
UTSW |
2 |
24,651,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Cacna1b
|
UTSW |
2 |
24,575,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2292:Cacna1b
|
UTSW |
2 |
24,496,632 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2570:Cacna1b
|
UTSW |
2 |
24,496,649 (GRCm39) |
nonsense |
probably null |
|
|
R2850:Cacna1b
|
UTSW |
2 |
24,651,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2911:Cacna1b
|
UTSW |
2 |
24,497,553 (GRCm39) |
splice site |
probably null |
|
|
R2937:Cacna1b
|
UTSW |
2 |
24,496,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2938:Cacna1b
|
UTSW |
2 |
24,496,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3522:Cacna1b
|
UTSW |
2 |
24,653,055 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3800:Cacna1b
|
UTSW |
2 |
24,548,971 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4166:Cacna1b
|
UTSW |
2 |
24,567,923 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4300:Cacna1b
|
UTSW |
2 |
24,525,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4366:Cacna1b
|
UTSW |
2 |
24,592,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4493:Cacna1b
|
UTSW |
2 |
24,542,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4494:Cacna1b
|
UTSW |
2 |
24,542,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4522:Cacna1b
|
UTSW |
2 |
24,544,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Cacna1b
|
UTSW |
2 |
24,516,864 (GRCm39) |
nonsense |
probably null |
|
|
R4673:Cacna1b
|
UTSW |
2 |
24,521,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Cacna1b
|
UTSW |
2 |
24,544,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Cacna1b
|
UTSW |
2 |
24,544,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Cacna1b
|
UTSW |
2 |
24,622,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Cacna1b
|
UTSW |
2 |
24,527,499 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4796:Cacna1b
|
UTSW |
2 |
24,527,499 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4962:Cacna1b
|
UTSW |
2 |
24,547,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Cacna1b
|
UTSW |
2 |
24,508,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Cacna1b
|
UTSW |
2 |
24,538,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4990:Cacna1b
|
UTSW |
2 |
24,568,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5109:Cacna1b
|
UTSW |
2 |
24,580,797 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5117:Cacna1b
|
UTSW |
2 |
24,622,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5176:Cacna1b
|
UTSW |
2 |
24,525,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5253:Cacna1b
|
UTSW |
2 |
24,609,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Cacna1b
|
UTSW |
2 |
24,623,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5374:Cacna1b
|
UTSW |
2 |
24,596,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5465:Cacna1b
|
UTSW |
2 |
24,540,438 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5568:Cacna1b
|
UTSW |
2 |
24,497,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Cacna1b
|
UTSW |
2 |
24,540,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Cacna1b
|
UTSW |
2 |
24,569,370 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6277:Cacna1b
|
UTSW |
2 |
24,620,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6294:Cacna1b
|
UTSW |
2 |
24,609,069 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6609:Cacna1b
|
UTSW |
2 |
24,543,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6929:Cacna1b
|
UTSW |
2 |
24,522,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7016:Cacna1b
|
UTSW |
2 |
24,652,860 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7112:Cacna1b
|
UTSW |
2 |
24,580,773 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7162:Cacna1b
|
UTSW |
2 |
24,590,034 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7401:Cacna1b
|
UTSW |
2 |
24,569,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7402:Cacna1b
|
UTSW |
2 |
24,497,671 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7442:Cacna1b
|
UTSW |
2 |
24,497,513 (GRCm39) |
missense |
probably benign |
|
|
R7450:Cacna1b
|
UTSW |
2 |
24,525,147 (GRCm39) |
nonsense |
probably null |
|
|
R7481:Cacna1b
|
UTSW |
2 |
24,506,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7999:Cacna1b
|
UTSW |
2 |
24,540,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8041:Cacna1b
|
UTSW |
2 |
24,547,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8084:Cacna1b
|
UTSW |
2 |
24,575,808 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8147:Cacna1b
|
UTSW |
2 |
24,569,188 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8170:Cacna1b
|
UTSW |
2 |
24,568,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8371:Cacna1b
|
UTSW |
2 |
24,610,036 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8391:Cacna1b
|
UTSW |
2 |
24,596,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8723:Cacna1b
|
UTSW |
2 |
24,548,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8836:Cacna1b
|
UTSW |
2 |
24,542,982 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8856:Cacna1b
|
UTSW |
2 |
24,569,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8922:Cacna1b
|
UTSW |
2 |
24,622,340 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8940:Cacna1b
|
UTSW |
2 |
24,653,084 (GRCm39) |
unclassified |
probably benign |
|
|
R9140:Cacna1b
|
UTSW |
2 |
24,525,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9414:Cacna1b
|
UTSW |
2 |
24,538,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9476:Cacna1b
|
UTSW |
2 |
24,540,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9510:Cacna1b
|
UTSW |
2 |
24,540,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9520:Cacna1b
|
UTSW |
2 |
24,651,799 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9566:Cacna1b
|
UTSW |
2 |
24,498,092 (GRCm39) |
nonsense |
probably null |
|
|
R9671:Cacna1b
|
UTSW |
2 |
24,596,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9757:Cacna1b
|
UTSW |
2 |
24,609,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9784:Cacna1b
|
UTSW |
2 |
24,651,801 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9797:Cacna1b
|
UTSW |
2 |
24,508,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Cacna1b
|
UTSW |
2 |
24,623,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Cacna1b
|
UTSW |
2 |
24,551,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cacna1b
|
UTSW |
2 |
24,516,896 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Cacna1b
|
UTSW |
2 |
24,569,000 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Cacna1b
|
UTSW |
2 |
24,551,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cacna1b
|
UTSW |
2 |
24,528,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGAAGCAAGCTGGATCCC -3'
(R):5'- GTAGCCCAGGATCTATTTGCC -3'
Sequencing Primer
(F):5'- TTAACACTGAGCACCAAGGACTGAG -3'
(R):5'- CCAGGATCTATTTGCCTTGTGGAAAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation