Incidental Mutation 'R4795:Cacna1b'
| ID |
368899 |
| 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 |
041996-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4795 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24493899-24653164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24527499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1621
(T1621S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041342]
[ENSMUST00000070864]
[ENSMUST00000100348]
[ENSMUST00000102939]
[ENSMUST00000114447]
|
| AlphaFold |
O55017 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041342
AA Change: T1621S
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113
AA Change: T1621S
| 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
AA Change: T1618S
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113
AA Change: T1618S
| 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
AA Change: T1622S
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113
AA Change: T1622S
| 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 |
possibly damaging
Transcript: ENSMUST00000102939
AA Change: T1619S
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113
AA Change: T1619S
| 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
AA Change: T1622S
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113
AA Change: T1622S
| 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
|
| Meta Mutation Damage Score |
0.1136 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
98% (123/125) |
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
G |
3: 121,969,772 (GRCm39) |
L2259R |
probably damaging |
Het |
| Acd |
A |
G |
8: 106,427,647 (GRCm39) |
S2P |
possibly damaging |
Het |
| Acsf3 |
A |
G |
8: 123,506,896 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Adam21 |
T |
C |
12: 81,607,748 (GRCm39) |
I5V |
probably benign |
Het |
| Adamts6 |
C |
A |
13: 104,580,636 (GRCm39) |
S783* |
probably null |
Het |
| Adamtsl1 |
T |
C |
4: 86,162,006 (GRCm39) |
|
probably null |
Het |
| Adck2 |
T |
A |
6: 39,553,327 (GRCm39) |
S313T |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,233,616 (GRCm39) |
I1285T |
probably benign |
Het |
| Angptl1 |
T |
A |
1: 156,688,153 (GRCm39) |
M485K |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,694,095 (GRCm39) |
V289I |
probably benign |
Het |
| Atp13a4 |
A |
G |
16: 29,308,826 (GRCm39) |
|
probably null |
Het |
| Atp1a1 |
A |
G |
3: 101,491,091 (GRCm39) |
L648P |
probably benign |
Het |
| Atp2a3 |
A |
G |
11: 72,863,855 (GRCm39) |
I194V |
probably benign |
Het |
| Bglap |
A |
C |
3: 88,291,712 (GRCm39) |
I4S |
unknown |
Het |
| Ccdc112 |
T |
A |
18: 46,420,739 (GRCm39) |
Q337L |
probably benign |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,503,165 (GRCm39) |
S180P |
possibly damaging |
Het |
| Cd34 |
T |
G |
1: 194,633,319 (GRCm39) |
S194A |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,868,989 (GRCm39) |
D160G |
probably damaging |
Het |
| Clock |
T |
C |
5: 76,413,763 (GRCm39) |
K44R |
probably damaging |
Het |
| Commd9 |
A |
G |
2: 101,729,241 (GRCm39) |
N116D |
probably benign |
Het |
| Dab2 |
C |
A |
15: 6,459,092 (GRCm39) |
P335T |
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,555,714 (GRCm39) |
|
probably null |
Het |
| Epha2 |
A |
G |
4: 141,049,727 (GRCm39) |
|
probably null |
Het |
| Fam78b |
T |
C |
1: 166,906,216 (GRCm39) |
V125A |
probably benign |
Het |
| Fars2 |
A |
T |
13: 36,721,400 (GRCm39) |
E448V |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Glyr1 |
A |
C |
16: 4,865,622 (GRCm39) |
V44G |
probably benign |
Het |
| Gm1527 |
A |
G |
3: 28,974,812 (GRCm39) |
I542V |
possibly damaging |
Het |
| Gm18856 |
C |
A |
13: 14,139,793 (GRCm39) |
|
probably benign |
Het |
| Gm44501 |
A |
G |
17: 40,889,605 (GRCm39) |
K40E |
probably benign |
Het |
| Hdhd5 |
T |
C |
6: 120,500,407 (GRCm39) |
H97R |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,629,362 (GRCm39) |
V965A |
probably benign |
Het |
| Hsf5 |
A |
G |
11: 87,526,446 (GRCm39) |
M373V |
probably benign |
Het |
| Igbp1b |
C |
T |
6: 138,634,803 (GRCm39) |
E214K |
probably benign |
Het |
| Iigp1 |
T |
A |
18: 60,522,964 (GRCm39) |
F27L |
probably benign |
Het |
| Isl1 |
T |
C |
13: 116,441,966 (GRCm39) |
N89S |
probably benign |
Het |
| Itga1 |
C |
A |
13: 115,171,921 (GRCm39) |
W61C |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,256,187 (GRCm39) |
R922G |
probably benign |
Het |
| Kbtbd3 |
G |
A |
9: 4,331,073 (GRCm39) |
W482* |
probably null |
Het |
| Kcnq1 |
A |
G |
7: 142,736,494 (GRCm39) |
T168A |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,826,074 (GRCm39) |
N631S |
probably damaging |
Het |
| Lrrk1 |
T |
A |
7: 65,912,413 (GRCm39) |
I1716F |
possibly damaging |
Het |
| Ly75 |
T |
C |
2: 60,180,284 (GRCm39) |
E631G |
probably benign |
Het |
| Map4 |
T |
C |
9: 109,864,331 (GRCm39) |
S519P |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mrtfa |
C |
T |
15: 80,901,234 (GRCm39) |
S419N |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,403,304 (GRCm39) |
E755G |
unknown |
Het |
| Ncaph2 |
T |
G |
15: 89,255,010 (GRCm39) |
V478G |
probably damaging |
Het |
| Ncbp1 |
A |
G |
4: 46,152,967 (GRCm39) |
R247G |
possibly damaging |
Het |
| Necab1 |
G |
T |
4: 15,111,208 (GRCm39) |
D73E |
possibly damaging |
Het |
| Nedd9 |
T |
C |
13: 41,471,376 (GRCm39) |
K208E |
probably benign |
Het |
| Nfyb |
A |
T |
10: 82,588,202 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
T |
C |
18: 23,054,944 (GRCm39) |
Q162R |
probably damaging |
Het |
| Nwd2 |
G |
A |
5: 63,962,776 (GRCm39) |
D787N |
probably benign |
Het |
| Olfr908 |
T |
A |
9: 38,427,799 (GRCm39) |
M157K |
probably damaging |
Het |
| Or10a5 |
A |
T |
7: 106,636,121 (GRCm39) |
Y253F |
probably benign |
Het |
| Or11g7 |
A |
C |
14: 50,690,874 (GRCm39) |
M122L |
probably damaging |
Het |
| Or13a22 |
A |
G |
7: 140,072,920 (GRCm39) |
D123G |
probably damaging |
Het |
| Or5ac23 |
C |
T |
16: 59,149,213 (GRCm39) |
V220I |
probably benign |
Het |
| Or6a2 |
C |
T |
7: 106,600,542 (GRCm39) |
G175D |
probably damaging |
Het |
| Or6e1 |
A |
G |
14: 54,520,004 (GRCm39) |
M116T |
probably damaging |
Het |
| Orai3 |
T |
C |
7: 127,373,060 (GRCm39) |
V187A |
probably benign |
Het |
| Parn |
T |
C |
16: 13,424,066 (GRCm39) |
T444A |
probably benign |
Het |
| Pcdh11x |
A |
C |
X: 119,309,937 (GRCm39) |
N460T |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,205,858 (GRCm39) |
R2516H |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,074,705 (GRCm39) |
|
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,349,972 (GRCm39) |
N952S |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,261,217 (GRCm39) |
Y237C |
probably damaging |
Het |
| Plcb2 |
A |
G |
2: 118,541,605 (GRCm39) |
V975A |
probably benign |
Het |
| Polk |
T |
C |
13: 96,625,764 (GRCm39) |
T347A |
probably benign |
Het |
| Ppp6r1 |
C |
T |
7: 4,644,053 (GRCm39) |
V430M |
possibly damaging |
Het |
| Ptges2 |
C |
A |
2: 32,286,334 (GRCm39) |
C16* |
probably null |
Het |
| Relb |
A |
T |
7: 19,353,764 (GRCm39) |
I38N |
probably damaging |
Het |
| Runx1t1 |
T |
A |
4: 13,837,767 (GRCm39) |
N51K |
probably damaging |
Het |
| Samsn1 |
A |
G |
16: 75,680,733 (GRCm39) |
|
probably benign |
Het |
| Scrn1 |
A |
G |
6: 54,497,754 (GRCm39) |
V279A |
possibly damaging |
Het |
| Sec31b |
A |
G |
19: 44,520,185 (GRCm39) |
S200P |
probably benign |
Het |
| Selp |
A |
G |
1: 163,972,475 (GRCm39) |
T705A |
probably benign |
Het |
| Slc2a1 |
G |
A |
4: 118,989,642 (GRCm39) |
R61Q |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,542,647 (GRCm39) |
|
probably null |
Het |
| Smo |
T |
A |
6: 29,755,573 (GRCm39) |
V415E |
probably damaging |
Het |
| Spag8 |
C |
A |
4: 43,652,035 (GRCm39) |
V350L |
possibly damaging |
Het |
| Tbck |
T |
G |
3: 132,413,559 (GRCm39) |
L132R |
possibly damaging |
Het |
| Thnsl1 |
T |
A |
2: 21,216,856 (GRCm39) |
C203* |
probably null |
Het |
| Tm9sf2 |
T |
A |
14: 122,387,252 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
A |
G |
1: 36,880,757 (GRCm39) |
V171A |
probably damaging |
Het |
| Tmem209 |
T |
C |
6: 30,501,954 (GRCm39) |
T83A |
probably benign |
Het |
| Tmem63a |
T |
C |
1: 180,782,416 (GRCm39) |
Y138H |
probably damaging |
Het |
| Trim80 |
A |
G |
11: 115,338,769 (GRCm39) |
Y533C |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,472,006 (GRCm39) |
D66G |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,769,298 (GRCm39) |
I2620N |
probably benign |
Het |
| Ttyh3 |
A |
T |
5: 140,620,541 (GRCm39) |
I232N |
probably damaging |
Het |
| Ube2dnl1 |
G |
A |
X: 113,815,482 (GRCm39) |
C119Y |
possibly damaging |
Het |
| Unc13c |
T |
A |
9: 73,839,469 (GRCm39) |
S461C |
probably damaging |
Het |
| Unc80 |
T |
G |
1: 66,567,100 (GRCm39) |
I902S |
probably damaging |
Het |
| Usp42 |
C |
A |
5: 143,709,692 (GRCm39) |
G170W |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,216,252 (GRCm39) |
|
probably null |
Het |
| Ywhab |
A |
G |
2: 163,857,265 (GRCm39) |
Y180C |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,379,112 (GRCm39) |
C5329* |
probably null |
Het |
| Zbtb40 |
C |
T |
4: 136,725,953 (GRCm39) |
M535I |
probably benign |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfp318 |
A |
G |
17: 46,722,988 (GRCm39) |
T1664A |
probably benign |
Het |
| Zfp7 |
T |
A |
15: 76,775,546 (GRCm39) |
C529* |
probably null |
Het |
| Zfp768 |
T |
C |
7: 126,942,547 (GRCm39) |
Q527R |
possibly damaging |
Het |
| Zfp975 |
T |
A |
7: 42,314,570 (GRCm39) |
|
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 |
|
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'- TGCACAGGCCTACTTGACAG -3'
(R):5'- TCAGACTTGCATCTGTGGG -3'
Sequencing Primer
(F):5'- CTTGACAGAGACAGCATAGTTTTGG -3'
(R):5'- CATCTGTGGGTAGCCTTAGAGCC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation