Incidental Mutation 'R4612:Cacna1b'
| ID |
344790 |
| 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 |
041823-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4612 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
24493899-24653164 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 24516864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 65
(K65*)
|
| 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
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155356
AA Change: K65*
|
| SMART Domains |
Protein: ENSMUSP00000116674
Gene: ENSMUSG00000004113
AA Change: K65*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPHH
|
23 |
93 |
5.4e-39 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 109 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019D03Rik |
T |
C |
1: 52,964,635 (GRCm39) |
D31G |
probably benign |
Het |
| 5730455P16Rik |
A |
T |
11: 80,268,806 (GRCm39) |
M1K |
probably null |
Het |
| Abca15 |
A |
G |
7: 119,934,384 (GRCm39) |
D120G |
probably benign |
Het |
| Adam26a |
A |
T |
8: 44,021,830 (GRCm39) |
N553K |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,362,752 (GRCm39) |
C558S |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,587 (GRCm39) |
F212L |
probably benign |
Het |
| Adam39 |
A |
T |
8: 41,278,958 (GRCm39) |
S450C |
probably damaging |
Het |
| Agap2 |
A |
T |
10: 126,915,965 (GRCm39) |
T159S |
unknown |
Het |
| Ahnak |
G |
A |
19: 8,981,088 (GRCm39) |
V791I |
probably benign |
Het |
| Ak7 |
T |
G |
12: 105,727,772 (GRCm39) |
L468R |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,304,456 (GRCm39) |
D422G |
probably damaging |
Het |
| Antxr1 |
T |
A |
6: 87,265,155 (GRCm39) |
I129F |
probably damaging |
Het |
| Arhgap32 |
G |
A |
9: 32,170,775 (GRCm39) |
G1185D |
probably damaging |
Het |
| Atf7ip2 |
A |
T |
16: 10,059,427 (GRCm39) |
E322D |
probably benign |
Het |
| Atg4b |
T |
C |
1: 93,714,263 (GRCm39) |
F349L |
probably damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,677,856 (GRCm39) |
K127R |
probably damaging |
Het |
| Atxn1l |
C |
T |
8: 110,458,736 (GRCm39) |
V509M |
possibly damaging |
Het |
| B3glct |
T |
A |
5: 149,663,022 (GRCm39) |
I260N |
probably damaging |
Het |
| Bcl2l12 |
G |
A |
7: 44,646,009 (GRCm39) |
P70L |
probably damaging |
Het |
| Bok |
T |
A |
1: 93,621,900 (GRCm39) |
F157L |
probably damaging |
Het |
| Bves |
G |
A |
10: 45,215,373 (GRCm39) |
G16D |
probably benign |
Het |
| Casc3 |
A |
G |
11: 98,713,784 (GRCm39) |
T339A |
probably benign |
Het |
| Ccdc18 |
C |
T |
5: 108,283,307 (GRCm39) |
S6L |
probably benign |
Het |
| Cd86 |
A |
G |
16: 36,435,692 (GRCm39) |
Y242H |
probably benign |
Het |
| Chd3 |
A |
C |
11: 69,244,035 (GRCm39) |
Y1249* |
probably null |
Het |
| Chrne |
T |
C |
11: 70,507,848 (GRCm39) |
T284A |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,523,339 (GRCm39) |
D2746G |
probably damaging |
Het |
| Cryaa |
T |
A |
17: 31,897,448 (GRCm39) |
M72K |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 15,971,908 (GRCm39) |
|
probably null |
Het |
| Det1 |
A |
T |
7: 78,493,454 (GRCm39) |
N183K |
probably damaging |
Het |
| Dis3 |
C |
A |
14: 99,328,871 (GRCm39) |
V294L |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,374,193 (GRCm39) |
L1493F |
possibly damaging |
Het |
| Dsc2 |
A |
T |
18: 20,174,876 (GRCm39) |
D466E |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,595,470 (GRCm39) |
S558T |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,772,403 (GRCm39) |
L422* |
probably null |
Het |
| Elp6 |
T |
C |
9: 110,143,087 (GRCm39) |
F100S |
probably damaging |
Het |
| Epg5 |
C |
T |
18: 78,025,629 (GRCm39) |
T1224I |
possibly damaging |
Het |
| Exoc1l |
A |
T |
5: 76,664,345 (GRCm39) |
N145Y |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,434,087 (GRCm39) |
I390N |
probably benign |
Het |
| Fam110c |
A |
G |
12: 31,124,655 (GRCm39) |
T206A |
unknown |
Het |
| Fam187b |
G |
A |
7: 30,676,518 (GRCm39) |
G9D |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,478,184 (GRCm39) |
D2410G |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,122,760 (GRCm39) |
F390Y |
probably benign |
Het |
| Fgg |
A |
G |
3: 82,917,397 (GRCm39) |
N142S |
probably damaging |
Het |
| Fhip1a |
G |
A |
3: 85,637,679 (GRCm39) |
R207* |
probably null |
Het |
| Flcn |
T |
C |
11: 59,683,513 (GRCm39) |
T555A |
probably damaging |
Het |
| Foxq1 |
G |
T |
13: 31,742,808 (GRCm39) |
|
probably benign |
Het |
| Gm3233 |
A |
T |
10: 77,595,498 (GRCm39) |
|
probably benign |
Het |
| Gprc5a |
G |
A |
6: 135,055,927 (GRCm39) |
V125I |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,639,358 (GRCm39) |
D218G |
probably damaging |
Het |
| Gtf3c5 |
C |
T |
2: 28,469,596 (GRCm39) |
A103T |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,266,886 (GRCm39) |
T1964A |
possibly damaging |
Het |
| Htatip2 |
G |
T |
7: 49,422,345 (GRCm39) |
E188* |
probably null |
Het |
| Ifna13 |
T |
G |
4: 88,562,113 (GRCm39) |
E170D |
probably damaging |
Het |
| Il4ra |
A |
G |
7: 125,175,255 (GRCm39) |
T488A |
probably benign |
Het |
| Jup |
G |
T |
11: 100,272,660 (GRCm39) |
H251N |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,852,426 (GRCm39) |
|
probably null |
Het |
| Klhl28 |
T |
A |
12: 65,004,034 (GRCm39) |
I160L |
probably damaging |
Het |
| Klk1b5 |
A |
T |
7: 43,494,696 (GRCm39) |
T60S |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,950,706 (GRCm39) |
R1995G |
probably damaging |
Het |
| Lrig2 |
A |
C |
3: 104,370,099 (GRCm39) |
I844M |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,288,771 (GRCm39) |
W3698* |
probably null |
Het |
| Lyar |
T |
A |
5: 38,382,053 (GRCm39) |
S12T |
possibly damaging |
Het |
| Map3k19 |
T |
C |
1: 127,743,037 (GRCm39) |
K1507E |
probably benign |
Het |
| Mre11a |
G |
A |
9: 14,714,199 (GRCm39) |
G267R |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,980,717 (GRCm39) |
Q473R |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,397,593 (GRCm39) |
E29V |
probably benign |
Het |
| Neb |
T |
C |
2: 52,177,255 (GRCm39) |
D1362G |
probably damaging |
Het |
| Nme2 |
T |
C |
11: 93,846,428 (GRCm39) |
T7A |
possibly damaging |
Het |
| Nod2 |
T |
A |
8: 89,391,664 (GRCm39) |
L657Q |
possibly damaging |
Het |
| Nrm |
T |
A |
17: 36,174,421 (GRCm39) |
V75E |
probably benign |
Het |
| Ogfod1 |
A |
C |
8: 94,763,975 (GRCm39) |
K20T |
possibly damaging |
Het |
| Omp |
T |
C |
7: 97,794,348 (GRCm39) |
N93S |
probably damaging |
Het |
| Or10h28 |
T |
A |
17: 33,488,454 (GRCm39) |
V252E |
probably benign |
Het |
| Or14a256 |
T |
A |
7: 86,264,944 (GRCm39) |
Q303L |
probably benign |
Het |
| Or5h27 |
T |
C |
16: 59,006,674 (GRCm39) |
I57M |
probably damaging |
Het |
| Pcdhb15 |
A |
C |
18: 37,608,648 (GRCm39) |
T627P |
probably damaging |
Het |
| Pld1 |
A |
G |
3: 28,185,882 (GRCm39) |
T1036A |
possibly damaging |
Het |
| Pogk |
C |
A |
1: 166,226,334 (GRCm39) |
E606* |
probably null |
Het |
| Ppp1r10 |
T |
A |
17: 36,238,823 (GRCm39) |
L292Q |
probably damaging |
Het |
| Prpf6 |
T |
C |
2: 181,273,872 (GRCm39) |
C339R |
possibly damaging |
Het |
| Psd |
T |
A |
19: 46,301,778 (GRCm39) |
D937V |
probably benign |
Het |
| Rbak |
T |
C |
5: 143,160,222 (GRCm39) |
Q277R |
probably benign |
Het |
| Sbno1 |
T |
A |
5: 124,542,087 (GRCm39) |
Y355F |
probably damaging |
Het |
| Sec23ip |
C |
T |
7: 128,352,226 (GRCm39) |
Q201* |
probably null |
Het |
| Serpinb3a |
T |
C |
1: 106,975,337 (GRCm39) |
K157E |
probably damaging |
Het |
| Slc22a28 |
A |
T |
19: 8,078,770 (GRCm39) |
N306K |
probably damaging |
Het |
| Smarca2 |
C |
A |
19: 26,753,625 (GRCm39) |
D1584E |
possibly damaging |
Het |
| Snx29 |
C |
A |
16: 11,265,359 (GRCm39) |
Q530K |
probably damaging |
Het |
| Stard10 |
C |
A |
7: 100,994,877 (GRCm39) |
Q278K |
possibly damaging |
Het |
| Tgm2 |
C |
T |
2: 157,966,124 (GRCm39) |
C510Y |
probably benign |
Het |
| Tlr9 |
C |
T |
9: 106,101,006 (GRCm39) |
P99L |
probably damaging |
Het |
| Tmco4 |
T |
C |
4: 138,717,871 (GRCm39) |
W4R |
probably benign |
Het |
| Tmem151a |
T |
A |
19: 5,121,862 (GRCm39) |
|
probably benign |
Het |
| Tmem255b |
T |
C |
8: 13,504,228 (GRCm39) |
V140A |
probably benign |
Het |
| Trbj1-2 |
C |
T |
6: 41,510,950 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,781,750 (GRCm39) |
T290A |
probably damaging |
Het |
| Tsc22d1 |
G |
A |
14: 76,656,445 (GRCm39) |
E120K |
possibly damaging |
Het |
| Ttc29 |
A |
G |
8: 79,052,175 (GRCm39) |
D352G |
probably benign |
Het |
| Usp25 |
A |
T |
16: 76,830,833 (GRCm39) |
I30F |
possibly damaging |
Het |
| Usp34 |
A |
C |
11: 23,382,268 (GRCm39) |
N1993T |
probably damaging |
Het |
| Vmn2r124 |
A |
C |
17: 18,283,284 (GRCm39) |
H326P |
probably benign |
Het |
| Vmn2r92 |
C |
A |
17: 18,387,132 (GRCm39) |
T157K |
probably benign |
Het |
| Vstm5 |
A |
T |
9: 15,168,789 (GRCm39) |
I118F |
probably benign |
Het |
| Vwa7 |
T |
C |
17: 35,242,426 (GRCm39) |
V510A |
probably damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,462,123 (GRCm39) |
S1266N |
probably damaging |
Het |
| Zfp763 |
T |
A |
17: 33,237,922 (GRCm39) |
N408Y |
probably benign |
Het |
| Zswim5 |
C |
T |
4: 116,843,901 (GRCm39) |
H980Y |
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 |
|
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 |
|
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'- TCTTGAAGACTGCCTGCCTC -3'
(R):5'- TGTAGCCTGTGTAGCTGTACCC -3'
Sequencing Primer
(F):5'- ACTGCCTGCCTCCAGCTAG -3'
(R):5'- TGTGTAGCTGTACCCCTCAC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation