Incidental Mutation 'R8856:Cacna1b'
| ID |
675296 |
| 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 |
068737-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8856 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
24493899-24653164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24569530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 798
(R798H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037416
(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: R798H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113
AA Change: R798H
| 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: R797H
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113
AA Change: R797H
| 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: R799H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113
AA Change: R799H
| 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: R798H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113
AA Change: R798H
| 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: R799H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113
AA Change: R799H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
94 |
367 |
8.5e-69 |
PFAM |
|
Pfam:Ion_trans
|
482 |
721 |
2.4e-57 |
PFAM |
|
Pfam:PKD_channel
|
571 |
715 |
1e-7 |
PFAM |
|
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
917 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
1092 |
1103 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1139 |
1421 |
1.3e-62 |
PFAM |
|
Pfam:Ion_trans
|
1464 |
1711 |
3.2e-64 |
PFAM |
|
Pfam:PKD_channel
|
1550 |
1706 |
2.7e-9 |
PFAM |
|
Pfam:GPHH
|
1713 |
1783 |
1.9e-39 |
PFAM |
|
Ca_chan_IQ
|
1838 |
1872 |
1.09e-11 |
SMART |
|
low complexity region
|
2041 |
2051 |
N/A |
INTRINSIC |
|
low complexity region
|
2093 |
2115 |
N/A |
INTRINSIC |
|
low complexity region
|
2277 |
2293 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124183
AA Change: R97H
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000114605
Gene: ENSMUSG00000004113
AA Change: R97H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
A |
6: 121,618,349 (GRCm39) |
R214H |
probably benign |
Het |
| Abca4 |
A |
G |
3: 121,906,096 (GRCm39) |
S822G |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,707,621 (GRCm39) |
I1262F |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,632,088 (GRCm39) |
D482G |
probably damaging |
Het |
| Asph |
T |
A |
4: 9,630,947 (GRCm39) |
T134S |
possibly damaging |
Het |
| Cacna1a |
C |
T |
8: 85,286,070 (GRCm39) |
A905V |
probably benign |
Het |
| Cpne8 |
G |
T |
15: 90,486,044 (GRCm39) |
Q140K |
probably benign |
Het |
| Crocc2 |
A |
T |
1: 93,120,847 (GRCm39) |
N538I |
probably benign |
Het |
| Cyp2j9 |
T |
A |
4: 96,462,184 (GRCm39) |
I366F |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,410,064 (GRCm39) |
D1769E |
probably damaging |
Het |
| Def6 |
A |
T |
17: 28,435,972 (GRCm39) |
I44F |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,462,422 (GRCm39) |
T3723M |
probably damaging |
Het |
| Ecd |
T |
A |
14: 20,387,140 (GRCm39) |
Y198F |
probably damaging |
Het |
| Ecel1 |
A |
C |
1: 87,079,760 (GRCm39) |
M451R |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,831,506 (GRCm39) |
D199G |
probably benign |
Het |
| Efna5 |
A |
T |
17: 62,914,374 (GRCm39) |
I217N |
unknown |
Het |
| F13a1 |
A |
T |
13: 37,100,859 (GRCm39) |
D428E |
probably damaging |
Het |
| Fads1 |
T |
G |
19: 10,170,276 (GRCm39) |
I272S |
probably benign |
Het |
| Fam149a |
C |
T |
8: 45,834,611 (GRCm39) |
A63T |
|
Het |
| Fam83a |
A |
T |
15: 57,872,977 (GRCm39) |
N269Y |
probably damaging |
Het |
| Fasn |
G |
A |
11: 120,708,979 (GRCm39) |
T568I |
possibly damaging |
Het |
| Fbn1 |
A |
G |
2: 125,156,637 (GRCm39) |
S2363P |
probably damaging |
Het |
| Fbxl4 |
T |
A |
4: 22,390,803 (GRCm39) |
W329R |
probably damaging |
Het |
| Fgf12 |
A |
T |
16: 28,008,233 (GRCm39) |
V189E |
probably damaging |
Het |
| Frmd4b |
A |
T |
6: 97,269,359 (GRCm39) |
Y984* |
probably null |
Het |
| Galm |
A |
G |
17: 80,490,661 (GRCm39) |
T273A |
possibly damaging |
Het |
| Gm43302 |
A |
G |
5: 105,438,739 (GRCm39) |
S50P |
probably damaging |
Het |
| Gm45861 |
C |
T |
8: 28,010,788 (GRCm39) |
S561L |
unknown |
Het |
| Gnao1 |
A |
G |
8: 94,538,045 (GRCm39) |
I28V |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,385,779 (GRCm39) |
N967S |
probably damaging |
Het |
| Gpr155 |
A |
T |
2: 73,203,993 (GRCm39) |
F274I |
probably benign |
Het |
| Grm1 |
A |
C |
10: 10,595,092 (GRCm39) |
N845K |
probably damaging |
Het |
| Hnrnpa2b1 |
A |
T |
6: 51,443,120 (GRCm39) |
|
probably null |
Het |
| Hsf4 |
G |
T |
8: 105,996,628 (GRCm39) |
D18Y |
probably null |
Het |
| Htt |
T |
A |
5: 35,060,675 (GRCm39) |
D2774E |
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,028,621 (GRCm39) |
I679T |
probably benign |
Het |
| Irf4 |
T |
C |
13: 30,945,414 (GRCm39) |
F387L |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,720,962 (GRCm39) |
Y342C |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,282,299 (GRCm39) |
W133R |
possibly damaging |
Het |
| Ldhc |
A |
T |
7: 46,525,999 (GRCm39) |
H271L |
probably benign |
Het |
| Lmtk2 |
C |
A |
5: 144,113,079 (GRCm39) |
D1266E |
probably damaging |
Het |
| Lrrtm1 |
C |
A |
6: 77,221,807 (GRCm39) |
N421K |
possibly damaging |
Het |
| Ly9 |
G |
A |
1: 171,432,587 (GRCm39) |
T142I |
probably benign |
Het |
| Manba |
A |
G |
3: 135,223,764 (GRCm39) |
Y217C |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,845,109 (GRCm39) |
L330P |
probably damaging |
Het |
| Marchf2 |
A |
T |
17: 33,915,165 (GRCm39) |
V143E |
probably benign |
Het |
| Mmel1 |
A |
T |
4: 154,969,478 (GRCm39) |
D191V |
possibly damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,583 (GRCm39) |
I32N |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,960,510 (GRCm39) |
Q748* |
probably null |
Het |
| Mrpl34 |
T |
G |
8: 71,918,024 (GRCm39) |
W66G |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,931,865 (GRCm39) |
T774A |
unknown |
Het |
| Nde1 |
T |
A |
16: 14,001,446 (GRCm39) |
S165T |
|
Het |
| Nek10 |
T |
G |
14: 14,937,610 (GRCm38) |
I776M |
probably damaging |
Het |
| Nell2 |
A |
G |
15: 95,281,552 (GRCm39) |
S385P |
probably damaging |
Het |
| Nsf |
A |
T |
11: 103,821,568 (GRCm39) |
F29Y |
possibly damaging |
Het |
| Nsmaf |
A |
T |
4: 6,433,320 (GRCm39) |
Y133* |
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,091 (GRCm39) |
S275T |
possibly damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,776 (GRCm39) |
I485V |
probably benign |
Het |
| Poteg |
T |
A |
8: 27,938,033 (GRCm39) |
M1K |
probably null |
Het |
| Pramel24 |
A |
T |
4: 143,453,303 (GRCm39) |
N137I |
probably benign |
Het |
| Prdm5 |
G |
A |
6: 65,860,569 (GRCm39) |
V418I |
possibly damaging |
Het |
| Psmc6 |
T |
A |
14: 45,578,320 (GRCm39) |
C228S |
probably damaging |
Het |
| Ptgfrn |
C |
T |
3: 100,963,927 (GRCm39) |
A562T |
possibly damaging |
Het |
| Ralgapa2 |
G |
T |
2: 146,184,139 (GRCm39) |
Q1576K |
probably benign |
Het |
| Ranbp9 |
C |
T |
13: 43,567,506 (GRCm39) |
G400D |
probably damaging |
Het |
| Rgs11 |
A |
T |
17: 26,423,484 (GRCm39) |
I134F |
probably damaging |
Het |
| Rnf150 |
T |
A |
8: 83,762,715 (GRCm39) |
C317S |
probably damaging |
Het |
| Rrm2b |
G |
A |
15: 37,960,858 (GRCm39) |
|
probably benign |
Het |
| Scai |
T |
C |
2: 38,996,978 (GRCm39) |
Q272R |
probably benign |
Het |
| Sec62 |
C |
T |
3: 30,847,506 (GRCm39) |
R4C |
possibly damaging |
Het |
| Sgo2b |
C |
A |
8: 64,393,091 (GRCm39) |
L115F |
probably null |
Het |
| Slc44a3 |
G |
A |
3: 121,307,456 (GRCm39) |
P177S |
probably damaging |
Het |
| Slc45a4 |
G |
A |
15: 73,457,966 (GRCm39) |
L528F |
probably damaging |
Het |
| Slco1a1 |
G |
T |
6: 141,857,624 (GRCm39) |
A569D |
probably damaging |
Het |
| Stam2 |
G |
T |
2: 52,604,984 (GRCm39) |
Q184K |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,641,166 (GRCm39) |
L79Q |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tecta |
A |
T |
9: 42,284,597 (GRCm39) |
D829E |
probably benign |
Het |
| Tepsin |
A |
G |
11: 119,982,654 (GRCm39) |
V472A |
probably benign |
Het |
| Tnfrsf1a |
G |
A |
6: 125,334,688 (GRCm39) |
M109I |
possibly damaging |
Het |
| Trim42 |
A |
T |
9: 97,245,275 (GRCm39) |
Y508* |
probably null |
Het |
| Trmo |
T |
G |
4: 46,387,625 (GRCm39) |
N65T |
probably benign |
Het |
| Tspear |
G |
T |
10: 77,665,471 (GRCm39) |
E86* |
probably null |
Het |
| Ubr1 |
A |
T |
2: 120,734,523 (GRCm39) |
S1126T |
probably damaging |
Het |
| Usp50 |
C |
A |
2: 126,622,477 (GRCm39) |
D28Y |
probably damaging |
Het |
| Utp6 |
T |
A |
11: 79,842,455 (GRCm39) |
I225F |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,543,351 (GRCm39) |
T1766A |
probably benign |
Het |
| Vcl |
T |
A |
14: 21,045,160 (GRCm39) |
N288K |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,061,663 (GRCm39) |
N104D |
probably benign |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,455,484 (GRCm39) |
S1159R |
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 |
|
R0240:Cacna1b
|
UTSW |
2 |
24,528,669 (GRCm39) |
unclassified |
probably benign |
|
|
R0265:Cacna1b
|
UTSW |
2 |
24,651,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0352:Cacna1b
|
UTSW |
2 |
24,515,244 (GRCm39) |
intron |
probably benign |
|
|
R0376:Cacna1b
|
UTSW |
2 |
24,549,015 (GRCm39) |
splice site |
probably benign |
|
|
R0383:Cacna1b
|
UTSW |
2 |
24,651,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0432:Cacna1b
|
UTSW |
2 |
24,577,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0595:Cacna1b
|
UTSW |
2 |
24,540,001 (GRCm39) |
splice site |
probably benign |
|
|
R0660:Cacna1b
|
UTSW |
2 |
24,544,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0664:Cacna1b
|
UTSW |
2 |
24,544,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1107:Cacna1b
|
UTSW |
2 |
24,587,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Cacna1b
|
UTSW |
2 |
24,577,757 (GRCm39) |
splice site |
probably null |
|
|
R1445:Cacna1b
|
UTSW |
2 |
24,608,148 (GRCm39) |
splice site |
probably benign |
|
|
R1446:Cacna1b
|
UTSW |
2 |
24,596,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1496:Cacna1b
|
UTSW |
2 |
24,568,047 (GRCm39) |
missense |
probably benign |
|
|
R1614:Cacna1b
|
UTSW |
2 |
24,580,819 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1626:Cacna1b
|
UTSW |
2 |
24,496,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Cacna1b
|
UTSW |
2 |
24,506,891 (GRCm39) |
missense |
probably null |
0.80 |
|
R1984:Cacna1b
|
UTSW |
2 |
24,538,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:Cacna1b
|
UTSW |
2 |
24,538,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1989:Cacna1b
|
UTSW |
2 |
24,611,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Cacna1b
|
UTSW |
2 |
24,622,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Cacna1b
|
UTSW |
2 |
24,622,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Cacna1b
|
UTSW |
2 |
24,622,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2098:Cacna1b
|
UTSW |
2 |
24,540,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Cacna1b
|
UTSW |
2 |
24,569,485 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2196:Cacna1b
|
UTSW |
2 |
24,651,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Cacna1b
|
UTSW |
2 |
24,575,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2292:Cacna1b
|
UTSW |
2 |
24,496,632 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2570:Cacna1b
|
UTSW |
2 |
24,496,649 (GRCm39) |
nonsense |
probably null |
|
|
R2850:Cacna1b
|
UTSW |
2 |
24,651,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2911:Cacna1b
|
UTSW |
2 |
24,497,553 (GRCm39) |
splice site |
probably null |
|
|
R2937:Cacna1b
|
UTSW |
2 |
24,496,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2938:Cacna1b
|
UTSW |
2 |
24,496,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3522:Cacna1b
|
UTSW |
2 |
24,653,055 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3800:Cacna1b
|
UTSW |
2 |
24,548,971 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4166:Cacna1b
|
UTSW |
2 |
24,567,923 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4300:Cacna1b
|
UTSW |
2 |
24,525,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4366:Cacna1b
|
UTSW |
2 |
24,592,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4493:Cacna1b
|
UTSW |
2 |
24,542,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4494:Cacna1b
|
UTSW |
2 |
24,542,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4522:Cacna1b
|
UTSW |
2 |
24,544,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Cacna1b
|
UTSW |
2 |
24,516,864 (GRCm39) |
nonsense |
probably null |
|
|
R4673:Cacna1b
|
UTSW |
2 |
24,521,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Cacna1b
|
UTSW |
2 |
24,544,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Cacna1b
|
UTSW |
2 |
24,544,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Cacna1b
|
UTSW |
2 |
24,622,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Cacna1b
|
UTSW |
2 |
24,527,499 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4796:Cacna1b
|
UTSW |
2 |
24,527,499 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4962:Cacna1b
|
UTSW |
2 |
24,547,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Cacna1b
|
UTSW |
2 |
24,508,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Cacna1b
|
UTSW |
2 |
24,538,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4990:Cacna1b
|
UTSW |
2 |
24,568,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5109:Cacna1b
|
UTSW |
2 |
24,580,797 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5117:Cacna1b
|
UTSW |
2 |
24,622,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5176:Cacna1b
|
UTSW |
2 |
24,525,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5253:Cacna1b
|
UTSW |
2 |
24,609,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Cacna1b
|
UTSW |
2 |
24,623,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5374:Cacna1b
|
UTSW |
2 |
24,596,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5465:Cacna1b
|
UTSW |
2 |
24,540,438 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5568:Cacna1b
|
UTSW |
2 |
24,497,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Cacna1b
|
UTSW |
2 |
24,540,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Cacna1b
|
UTSW |
2 |
24,569,370 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6277:Cacna1b
|
UTSW |
2 |
24,620,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6294:Cacna1b
|
UTSW |
2 |
24,609,069 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6609:Cacna1b
|
UTSW |
2 |
24,543,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6929:Cacna1b
|
UTSW |
2 |
24,522,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7016:Cacna1b
|
UTSW |
2 |
24,652,860 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7112:Cacna1b
|
UTSW |
2 |
24,580,773 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7162:Cacna1b
|
UTSW |
2 |
24,590,034 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7401:Cacna1b
|
UTSW |
2 |
24,569,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7402:Cacna1b
|
UTSW |
2 |
24,497,671 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7442:Cacna1b
|
UTSW |
2 |
24,497,513 (GRCm39) |
missense |
probably benign |
|
|
R7450:Cacna1b
|
UTSW |
2 |
24,525,147 (GRCm39) |
nonsense |
probably null |
|
|
R7481:Cacna1b
|
UTSW |
2 |
24,506,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- GTCTTGTCCCTATCACGGTG -3'
(R):5'- ATTTGCAACACTGTTGGGGTC -3'
Sequencing Primer
(F):5'- TATCACGGTGCCGGTGG -3'
(R):5'- CAACACTGTTGGGGTCTTTAAG -3'
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| Posted On |
2021-07-15 |
Incidental Mutation