Incidental Mutation 'R1496:Cacna1b'
ID |
168832 |
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 |
039547-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1496 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
24493899-24653164 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24568047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 1015
(P1015S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041342]
[ENSMUST00000070864]
[ENSMUST00000100348]
[ENSMUST00000102939]
[ENSMUST00000114447]
[ENSMUST00000124183]
|
AlphaFold |
O55017 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041342
AA Change: P1014S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000037416 Gene: ENSMUSG00000004113 AA Change: P1014S
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: P1013S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000063236 Gene: ENSMUSG00000004113 AA Change: P1013S
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: P1015S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097920 Gene: ENSMUSG00000004113 AA Change: P1015S
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
AA Change: P1014S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000100003 Gene: ENSMUSG00000004113 AA Change: P1014S
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: P1015S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110090 Gene: ENSMUSG00000004113 AA Change: P1015S
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 |
noncoding transcript
Transcript: ENSMUST00000121558
|
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.9%
|
Validation Efficiency |
98% (94/96) |
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
A |
G |
9: 46,221,552 (GRCm39) |
|
probably benign |
Het |
4933411K16Rik |
T |
C |
19: 42,041,489 (GRCm39) |
Y207H |
probably damaging |
Het |
Abcc1 |
T |
A |
16: 14,266,298 (GRCm39) |
L832Q |
probably damaging |
Het |
Acan |
T |
A |
7: 78,750,552 (GRCm39) |
H1774Q |
probably benign |
Het |
Adss2 |
T |
C |
1: 177,599,760 (GRCm39) |
T275A |
probably benign |
Het |
Ano5 |
G |
A |
7: 51,233,523 (GRCm39) |
R595H |
probably damaging |
Het |
Araf |
G |
T |
X: 20,725,943 (GRCm39) |
R522L |
probably damaging |
Het |
Arhgef28 |
C |
T |
13: 98,102,054 (GRCm39) |
V807I |
possibly damaging |
Het |
Bin1 |
T |
C |
18: 32,545,757 (GRCm39) |
I103T |
probably damaging |
Het |
C4b |
C |
T |
17: 34,958,995 (GRCm39) |
R478Q |
probably benign |
Het |
Capn1 |
A |
G |
19: 6,057,528 (GRCm39) |
|
probably null |
Het |
Cep290 |
A |
G |
10: 100,374,828 (GRCm39) |
Q1358R |
probably damaging |
Het |
Cfap126 |
T |
C |
1: 170,953,386 (GRCm39) |
|
probably benign |
Het |
Chn1 |
T |
C |
2: 73,509,951 (GRCm39) |
|
probably benign |
Het |
Cldn8 |
T |
C |
16: 88,359,289 (GRCm39) |
E212G |
probably benign |
Het |
Cpb1 |
T |
C |
3: 20,317,696 (GRCm39) |
N249S |
probably damaging |
Het |
Cxcr6 |
A |
T |
9: 123,639,412 (GRCm39) |
I138F |
probably benign |
Het |
Dab2ip |
G |
A |
2: 35,608,803 (GRCm39) |
R579H |
probably damaging |
Het |
Dcaf8 |
T |
C |
1: 172,021,422 (GRCm39) |
M538T |
probably benign |
Het |
Dhrs4 |
T |
G |
14: 55,725,107 (GRCm39) |
L201V |
probably damaging |
Het |
Dnah12 |
C |
T |
14: 26,431,403 (GRCm39) |
A407V |
probably benign |
Het |
Elavl3 |
T |
A |
9: 21,937,461 (GRCm39) |
|
probably benign |
Het |
Elp4 |
T |
C |
2: 105,662,506 (GRCm39) |
H88R |
probably benign |
Het |
Ercc3 |
T |
C |
18: 32,394,350 (GRCm39) |
|
probably benign |
Het |
Eri1 |
A |
G |
8: 35,936,335 (GRCm39) |
S329P |
possibly damaging |
Het |
Erich2 |
A |
T |
2: 70,343,117 (GRCm39) |
|
probably benign |
Het |
Esyt1 |
A |
G |
10: 128,348,297 (GRCm39) |
S864P |
possibly damaging |
Het |
Fam170b |
A |
G |
14: 32,557,588 (GRCm39) |
E141G |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,486,427 (GRCm39) |
Y3304C |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,151,415 (GRCm39) |
T2531A |
probably benign |
Het |
Fgfr3 |
T |
C |
5: 33,887,094 (GRCm39) |
V166A |
probably damaging |
Het |
Glt8d2 |
T |
C |
10: 82,495,372 (GRCm39) |
D194G |
probably damaging |
Het |
Gpr89 |
A |
G |
3: 96,812,526 (GRCm39) |
I5T |
probably benign |
Het |
Gpx6 |
A |
T |
13: 21,503,090 (GRCm39) |
H168L |
probably benign |
Het |
Gusb |
T |
C |
5: 130,027,385 (GRCm39) |
T307A |
probably benign |
Het |
Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
Ifngr1 |
A |
G |
10: 19,477,193 (GRCm39) |
D118G |
probably benign |
Het |
Ipcef1 |
A |
T |
10: 6,885,173 (GRCm39) |
|
probably null |
Het |
Kbtbd3 |
A |
T |
9: 4,330,276 (GRCm39) |
T217S |
probably benign |
Het |
Kmt5a |
GAA |
GA |
5: 124,597,948 (GRCm39) |
|
probably null |
Het |
Lrp1 |
T |
C |
10: 127,374,880 (GRCm39) |
D4526G |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 42,213,674 (GRCm39) |
V46D |
probably damaging |
Het |
Lsm8 |
T |
A |
6: 18,849,658 (GRCm39) |
M22K |
probably benign |
Het |
Map1lc3b |
C |
T |
8: 122,323,339 (GRCm39) |
R70C |
possibly damaging |
Het |
Meiob |
T |
A |
17: 25,032,026 (GRCm39) |
S14T |
possibly damaging |
Het |
Mkx |
G |
T |
18: 6,992,330 (GRCm39) |
Y183* |
probably null |
Het |
Mrs2 |
T |
C |
13: 25,189,017 (GRCm39) |
Y99C |
probably benign |
Het |
Mycbpap |
T |
C |
11: 94,396,387 (GRCm39) |
K151R |
probably benign |
Het |
Neb |
T |
G |
2: 52,218,746 (GRCm39) |
Q88P |
probably damaging |
Het |
Noc4l |
T |
A |
5: 110,797,944 (GRCm39) |
H319L |
probably damaging |
Het |
Nt5c2 |
G |
A |
19: 46,893,417 (GRCm39) |
T122I |
probably damaging |
Het |
Nuggc |
A |
T |
14: 65,861,582 (GRCm39) |
N476I |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,921,862 (GRCm39) |
H5978L |
probably benign |
Het |
Oc90 |
G |
T |
15: 65,748,370 (GRCm39) |
A412D |
probably damaging |
Het |
Or2l13b |
T |
A |
16: 19,349,133 (GRCm39) |
D179V |
possibly damaging |
Het |
Or3a4 |
A |
G |
11: 73,944,650 (GRCm39) |
*312Q |
probably null |
Het |
Or4a76 |
A |
G |
2: 89,460,358 (GRCm39) |
S295P |
possibly damaging |
Het |
Or5w18 |
T |
G |
2: 87,633,212 (GRCm39) |
S160A |
probably benign |
Het |
Or7a42 |
T |
A |
10: 78,791,682 (GRCm39) |
S214R |
probably benign |
Het |
Or8k33 |
A |
T |
2: 86,384,096 (GRCm39) |
V124E |
probably damaging |
Het |
Pdzrn3 |
A |
T |
6: 101,127,930 (GRCm39) |
V912E |
probably benign |
Het |
Phactr1 |
T |
A |
13: 43,248,466 (GRCm39) |
Y387N |
probably damaging |
Het |
Picalm |
T |
A |
7: 89,779,859 (GRCm39) |
C27S |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,891,077 (GRCm39) |
I314F |
possibly damaging |
Het |
Pold2 |
T |
C |
11: 5,824,175 (GRCm39) |
E210G |
possibly damaging |
Het |
Ptprz1 |
C |
T |
6: 23,049,523 (GRCm39) |
|
probably benign |
Het |
Rac1 |
G |
T |
5: 143,493,093 (GRCm39) |
A165E |
probably damaging |
Het |
Rpap3 |
G |
T |
15: 97,584,364 (GRCm39) |
T360K |
possibly damaging |
Het |
Scn9a |
G |
A |
2: 66,357,232 (GRCm39) |
T1012I |
probably benign |
Het |
Sdad1 |
A |
G |
5: 92,457,682 (GRCm39) |
I20T |
possibly damaging |
Het |
Setbp1 |
T |
G |
18: 78,903,127 (GRCm39) |
K180T |
probably damaging |
Het |
Sgpl1 |
T |
C |
10: 60,938,368 (GRCm39) |
N475S |
probably damaging |
Het |
Shroom3 |
T |
C |
5: 93,090,693 (GRCm39) |
S1148P |
possibly damaging |
Het |
Sin3a |
T |
A |
9: 57,026,442 (GRCm39) |
H1119Q |
possibly damaging |
Het |
Slc26a7 |
T |
A |
4: 14,506,489 (GRCm39) |
Y620F |
probably benign |
Het |
Slc4a1 |
T |
C |
11: 102,251,997 (GRCm39) |
I36V |
probably benign |
Het |
Smarca2 |
C |
G |
19: 26,608,501 (GRCm39) |
P263A |
possibly damaging |
Het |
Sp100 |
T |
C |
1: 85,591,242 (GRCm39) |
|
probably benign |
Het |
Spag6l |
A |
G |
16: 16,598,478 (GRCm39) |
|
probably benign |
Het |
Sptbn1 |
T |
C |
11: 30,071,498 (GRCm39) |
N1491S |
probably damaging |
Het |
Tbl1xr1 |
T |
G |
3: 22,245,115 (GRCm39) |
V155G |
possibly damaging |
Het |
Tmc1 |
A |
G |
19: 20,845,719 (GRCm39) |
I168T |
probably damaging |
Het |
Tmem87b |
G |
A |
2: 128,668,313 (GRCm39) |
|
probably null |
Het |
Tnfrsf9 |
T |
A |
4: 151,017,561 (GRCm39) |
|
probably null |
Het |
Tnni3k |
T |
C |
3: 154,645,295 (GRCm39) |
D530G |
probably damaging |
Het |
Vmn1r209 |
G |
A |
13: 22,989,934 (GRCm39) |
S252F |
probably damaging |
Het |
Zbtb3 |
A |
T |
19: 8,780,714 (GRCm39) |
N109I |
probably damaging |
Het |
Zdhhc17 |
T |
G |
10: 110,782,071 (GRCm39) |
H541P |
probably damaging |
Het |
Zfp84 |
A |
G |
7: 29,476,039 (GRCm39) |
I244V |
possibly damaging |
Het |
Zyx |
A |
G |
6: 42,333,246 (GRCm39) |
Y393C |
probably damaging |
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 |
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'- TAGCACTCTGACACTGAGCCTGAC -3'
(R):5'- CCATTATGGCAGGGTAAGTGTGCAG -3'
Sequencing Primer
(F):5'- CCACTGGTTACAGGGAGATACTC -3'
(R):5'- TGCAGGGAGACAGAAACCAATC -3'
|
Posted On |
2014-04-13 |