Incidental Mutation 'R0240:Cacna1b'
| ID |
59278 |
| 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 |
038478-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0240 (G1)
|
| Quality Score |
124 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24493899-24653164 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 24528669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041342]
[ENSMUST00000070864]
[ENSMUST00000100348]
[ENSMUST00000102939]
[ENSMUST00000114447]
|
| AlphaFold |
O55017 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041342
|
| SMART Domains |
Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113
| 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 |
probably benign
Transcript: ENSMUST00000070864
|
| SMART Domains |
Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113
| 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 benign
Transcript: ENSMUST00000100348
|
| SMART Domains |
Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113
| 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 benign
Transcript: ENSMUST00000102939
|
| SMART Domains |
Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113
| 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 benign
Transcript: ENSMUST00000114447
|
| SMART Domains |
Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113
| 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: ENSMUST00000125798
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
100% (112/112) |
| 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: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
T |
C |
8: 123,506,920 (GRCm39) |
L71P |
probably damaging |
Het |
| Adamts2 |
A |
T |
11: 50,666,201 (GRCm39) |
D399V |
probably damaging |
Het |
| Adck2 |
T |
A |
6: 39,560,752 (GRCm39) |
V380E |
probably benign |
Het |
| Alg11 |
T |
A |
8: 22,555,468 (GRCm39) |
V243D |
possibly damaging |
Het |
| Ankrd27 |
T |
A |
7: 35,318,864 (GRCm39) |
L585Q |
probably damaging |
Het |
| Armh4 |
A |
G |
14: 50,005,859 (GRCm39) |
|
probably benign |
Het |
| Atp7a |
T |
A |
X: 105,153,447 (GRCm39) |
N1117K |
probably damaging |
Het |
| Bltp3a |
T |
A |
17: 28,114,844 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
T |
A |
14: 29,818,926 (GRCm39) |
M1210L |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,001,234 (GRCm39) |
|
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,852,670 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,559,315 (GRCm39) |
S1858T |
probably benign |
Het |
| Cotl1 |
C |
T |
8: 120,567,063 (GRCm39) |
W26* |
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,492,635 (GRCm39) |
T3000A |
probably benign |
Het |
| Dcp1a |
T |
A |
14: 30,206,551 (GRCm39) |
|
probably benign |
Het |
| Ddhd2 |
A |
T |
8: 26,229,617 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
C |
17: 30,984,653 (GRCm39) |
I3117T |
probably damaging |
Het |
| Dnm3 |
G |
T |
1: 162,181,194 (GRCm39) |
Q162K |
probably benign |
Het |
| Dpy19l2 |
G |
T |
9: 24,569,876 (GRCm39) |
A359D |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,676,746 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,897,873 (GRCm39) |
K1025R |
probably damaging |
Het |
| Eml2 |
C |
A |
7: 18,918,797 (GRCm39) |
Y82* |
probably null |
Het |
| Eml6 |
A |
G |
11: 29,742,367 (GRCm39) |
V1057A |
possibly damaging |
Het |
| Eral1 |
A |
G |
11: 77,966,884 (GRCm39) |
|
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,220,976 (GRCm39) |
S911P |
probably benign |
Het |
| Fbxo8 |
A |
G |
8: 57,043,296 (GRCm39) |
|
probably benign |
Het |
| Flrt1 |
A |
T |
19: 7,074,475 (GRCm39) |
|
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,766,235 (GRCm39) |
|
probably benign |
Het |
| G3bp1 |
G |
A |
11: 55,382,854 (GRCm39) |
G139D |
probably damaging |
Het |
| Gabra6 |
C |
T |
11: 42,205,774 (GRCm39) |
V351I |
probably benign |
Het |
| Galc |
A |
T |
12: 98,218,293 (GRCm39) |
H186Q |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,890,177 (GRCm39) |
D702G |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,010,085 (GRCm39) |
E291G |
possibly damaging |
Het |
| Hectd3 |
T |
G |
4: 116,859,810 (GRCm39) |
V749G |
probably damaging |
Het |
| Kash5 |
C |
T |
7: 44,849,675 (GRCm39) |
A83T |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,187,648 (GRCm39) |
I703N |
probably benign |
Het |
| Kcnma1 |
G |
A |
14: 23,544,647 (GRCm39) |
T505I |
probably damaging |
Het |
| Kctd11 |
A |
G |
11: 69,770,640 (GRCm39) |
C133R |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,672,880 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
T |
C |
1: 193,017,335 (GRCm39) |
L842P |
probably damaging |
Het |
| Ldlr |
T |
C |
9: 21,649,295 (GRCm39) |
|
probably benign |
Het |
| Lipk |
G |
A |
19: 34,024,210 (GRCm39) |
R336H |
probably benign |
Het |
| Lrrc24 |
T |
A |
15: 76,607,409 (GRCm39) |
D58V |
probably damaging |
Het |
| Lrsam1 |
A |
G |
2: 32,845,197 (GRCm39) |
L106P |
probably damaging |
Het |
| Milr1 |
G |
A |
11: 106,645,722 (GRCm39) |
W88* |
probably null |
Het |
| Mmp10 |
A |
G |
9: 7,506,544 (GRCm39) |
D340G |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,391,600 (GRCm39) |
Y285F |
possibly damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,896,320 (GRCm39) |
T408A |
probably benign |
Het |
| Nefm |
T |
A |
14: 68,358,583 (GRCm39) |
K484* |
probably null |
Het |
| Nfasc |
A |
G |
1: 132,529,721 (GRCm39) |
S814P |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,161,941 (GRCm39) |
V863A |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,005,948 (GRCm39) |
P223S |
probably benign |
Het |
| Nr2f2 |
G |
C |
7: 70,009,923 (GRCm39) |
P52R |
probably damaging |
Het |
| Or13c7 |
T |
A |
4: 43,854,512 (GRCm39) |
S68T |
probably damaging |
Het |
| Or4c108 |
A |
T |
2: 88,803,740 (GRCm39) |
L165Q |
probably damaging |
Het |
| Or5an6 |
A |
T |
19: 12,372,327 (GRCm39) |
E233D |
probably benign |
Het |
| Or8k41 |
A |
G |
2: 86,313,730 (GRCm39) |
S119P |
possibly damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,295,406 (GRCm39) |
|
probably null |
Het |
| Otog |
C |
A |
7: 45,913,456 (GRCm39) |
|
probably null |
Het |
| Pacs1 |
A |
T |
19: 5,206,402 (GRCm39) |
I261N |
possibly damaging |
Het |
| Pbx1 |
G |
A |
1: 168,031,051 (GRCm39) |
T189I |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,993,792 (GRCm39) |
I908T |
possibly damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,697,309 (GRCm39) |
W124R |
probably damaging |
Het |
| Phex |
C |
A |
X: 155,969,214 (GRCm39) |
D587Y |
probably damaging |
Het |
| Plcb3 |
A |
T |
19: 6,940,363 (GRCm39) |
D435E |
probably benign |
Het |
| Plce1 |
A |
C |
19: 38,717,330 (GRCm39) |
K1373T |
probably damaging |
Het |
| Prkcd |
G |
A |
14: 30,324,045 (GRCm39) |
A311V |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,232,374 (GRCm39) |
S421T |
probably benign |
Het |
| Ptprs |
T |
C |
17: 56,743,087 (GRCm39) |
|
probably null |
Het |
| Qrich1 |
A |
G |
9: 108,411,333 (GRCm39) |
D286G |
probably damaging |
Het |
| Rcc1 |
C |
A |
4: 132,060,226 (GRCm39) |
G393V |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,311,043 (GRCm39) |
N290S |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,430,175 (GRCm39) |
|
probably benign |
Het |
| Rhpn1 |
C |
T |
15: 75,585,971 (GRCm39) |
T628I |
probably benign |
Het |
| Rilp |
A |
G |
11: 75,401,747 (GRCm39) |
R176G |
probably benign |
Het |
| Riok3 |
C |
T |
18: 12,288,284 (GRCm39) |
A487V |
probably benign |
Het |
| Rnf224 |
T |
C |
2: 25,126,219 (GRCm39) |
T45A |
probably damaging |
Het |
| Rpa1 |
A |
G |
11: 75,219,513 (GRCm39) |
V137A |
probably benign |
Het |
| Rps6ka1 |
C |
A |
4: 133,575,842 (GRCm39) |
Q693H |
probably benign |
Het |
| Scn2a |
G |
T |
2: 65,566,118 (GRCm39) |
V1381F |
probably benign |
Het |
| Scp2 |
T |
A |
4: 107,955,275 (GRCm39) |
H112L |
probably benign |
Het |
| Sdk1 |
T |
C |
5: 141,984,502 (GRCm39) |
W696R |
probably damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,532,651 (GRCm39) |
V408F |
probably damaging |
Het |
| Slc28a2 |
T |
A |
2: 122,285,008 (GRCm39) |
I332N |
probably benign |
Het |
| Slc37a3 |
A |
G |
6: 39,314,172 (GRCm39) |
V480A |
probably benign |
Het |
| Slc45a4 |
T |
A |
15: 73,453,755 (GRCm39) |
E674D |
probably benign |
Het |
| Smpd3 |
T |
C |
8: 106,991,788 (GRCm39) |
E255G |
probably damaging |
Het |
| Snx29 |
C |
T |
16: 11,478,417 (GRCm39) |
R658W |
probably damaging |
Het |
| Sppl2a |
A |
T |
2: 126,762,256 (GRCm39) |
M275K |
probably benign |
Het |
| Stac |
T |
C |
9: 111,464,089 (GRCm39) |
N59S |
probably damaging |
Het |
| Stk25 |
A |
T |
1: 93,554,782 (GRCm39) |
L131Q |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,100,486 (GRCm39) |
|
probably benign |
Het |
| Thbs1 |
C |
A |
2: 117,944,874 (GRCm39) |
N229K |
probably damaging |
Het |
| Tmx2 |
A |
T |
2: 84,506,186 (GRCm39) |
H89Q |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tradd |
T |
C |
8: 105,985,924 (GRCm39) |
N209S |
possibly damaging |
Het |
| Trappc3l |
A |
T |
10: 33,974,928 (GRCm39) |
R119* |
probably null |
Het |
| Trmt1l |
G |
A |
1: 151,333,205 (GRCm39) |
|
probably benign |
Het |
| Ublcp1 |
G |
T |
11: 44,349,104 (GRCm39) |
Y243* |
probably null |
Het |
| Usp24 |
C |
A |
4: 106,271,601 (GRCm39) |
C2158* |
probably null |
Het |
| Usp34 |
A |
T |
11: 23,383,206 (GRCm39) |
K2088N |
probably damaging |
Het |
| Vmn1r53 |
G |
C |
6: 90,200,925 (GRCm39) |
S133C |
probably damaging |
Het |
| Vmn2r52 |
A |
G |
7: 9,893,327 (GRCm39) |
V604A |
probably damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,525,061 (GRCm39) |
K240E |
probably benign |
Het |
| Wdr13 |
T |
G |
X: 7,994,284 (GRCm39) |
D242A |
probably damaging |
Het |
| Wwp1 |
C |
T |
4: 19,641,734 (GRCm39) |
|
probably null |
Het |
| Zan |
G |
A |
5: 137,396,624 (GRCm39) |
H4311Y |
unknown |
Het |
| Zc3h12c |
C |
A |
9: 52,055,383 (GRCm39) |
R123L |
possibly damaging |
Het |
| Zfp125 |
A |
T |
12: 20,950,562 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp318 |
C |
T |
17: 46,707,739 (GRCm39) |
P266S |
probably benign |
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 |
|
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 |
|
R7792:Cacna1b
|
UTSW |
2 |
24,567,977 (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'- CAGCTTCCCAGAGAAAAGGGACTG -3'
(R):5'- GCTAATGCCCATACAACTCTGAGCC -3'
Sequencing Primer
(F):5'- TTGCTGAGCCCCCACTG -3'
(R):5'- ATGCTCTTGAGTCACGGATAAGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation