Incidental Mutation 'R1991:Cacna1b'
| ID |
225063 |
| 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 |
040002-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1991 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24603887-24763152 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24732306 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 222
(P222L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041342]
[ENSMUST00000070864]
[ENSMUST00000100348]
[ENSMUST00000102939]
[ENSMUST00000114447]
|
| AlphaFold |
O55017 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041342
AA Change: P222L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113
AA Change: P222L
| 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 damaging
Transcript: ENSMUST00000070864
AA Change: P222L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113
AA Change: P222L
| 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 damaging
Transcript: ENSMUST00000100348
AA Change: P222L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113
AA Change: P222L
| 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 damaging
Transcript: ENSMUST00000102939
AA Change: P222L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113
AA Change: P222L
| 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 damaging
Transcript: ENSMUST00000114447
AA Change: P222L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113
AA Change: P222L
| 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 |
|
| Meta Mutation Damage Score |
0.9272 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (124/124) |
| 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: 123 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 138,065,658 (GRCm38) |
R203* |
probably null |
Het |
| Abcc2 |
A |
T |
19: 43,807,142 (GRCm38) |
I446F |
probably damaging |
Het |
| Afap1l2 |
A |
T |
19: 57,002,267 (GRCm38) |
I18N |
possibly damaging |
Het |
| Aida |
A |
T |
1: 183,313,692 (GRCm38) |
E107D |
probably benign |
Het |
| Amer2 |
A |
G |
14: 60,379,820 (GRCm38) |
Y362C |
probably damaging |
Het |
| Amigo1 |
T |
C |
3: 108,187,328 (GRCm38) |
S48P |
probably benign |
Het |
| Ano5 |
A |
G |
7: 51,537,813 (GRCm38) |
K50R |
possibly damaging |
Het |
| Anxa2 |
A |
T |
9: 69,483,816 (GRCm38) |
D95V |
probably damaging |
Het |
| Arhgap22 |
A |
G |
14: 33,366,959 (GRCm38) |
N466D |
probably damaging |
Het |
| Armc3 |
T |
C |
2: 19,293,142 (GRCm38) |
Y575H |
probably damaging |
Het |
| Ascc2 |
A |
G |
11: 4,679,257 (GRCm38) |
E523G |
probably benign |
Het |
| B3galt5 |
A |
T |
16: 96,316,025 (GRCm38) |
K286M |
probably damaging |
Het |
| Bag3 |
C |
T |
7: 128,545,683 (GRCm38) |
H341Y |
probably benign |
Het |
| Blm |
G |
T |
7: 80,505,949 (GRCm38) |
|
probably null |
Het |
| Cap2 |
T |
A |
13: 46,637,881 (GRCm38) |
Y175N |
possibly damaging |
Het |
| Cd81 |
G |
T |
7: 143,067,201 (GRCm38) |
G206* |
probably null |
Het |
| Cep290 |
T |
A |
10: 100,531,184 (GRCm38) |
S1132R |
possibly damaging |
Het |
| Cluh |
C |
A |
11: 74,659,529 (GRCm38) |
C222* |
probably null |
Het |
| Col14a1 |
A |
T |
15: 55,449,940 (GRCm38) |
D1320V |
unknown |
Het |
| Col18a1 |
T |
C |
10: 77,081,154 (GRCm38) |
I114V |
unknown |
Het |
| Cped1 |
A |
G |
6: 22,233,927 (GRCm38) |
T847A |
probably damaging |
Het |
| Cpne7 |
A |
G |
8: 123,127,437 (GRCm38) |
K288E |
possibly damaging |
Het |
| Cr2 |
G |
A |
1: 195,154,150 (GRCm38) |
P1278S |
possibly damaging |
Het |
| Creb3 |
C |
A |
4: 43,565,327 (GRCm38) |
R202S |
probably damaging |
Het |
| Cyp2j9 |
T |
A |
4: 96,571,964 (GRCm38) |
K434M |
probably damaging |
Het |
| Dnai3 |
G |
T |
3: 146,063,480 (GRCm38) |
T522K |
possibly damaging |
Het |
| Dpp10 |
A |
T |
1: 123,905,106 (GRCm38) |
V48E |
probably null |
Het |
| Dsg2 |
A |
G |
18: 20,601,473 (GRCm38) |
K836R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,190,258 (GRCm38) |
T1986A |
probably benign |
Het |
| Dvl1 |
G |
A |
4: 155,847,816 (GRCm38) |
V28I |
possibly damaging |
Het |
| Ecm2 |
A |
G |
13: 49,530,256 (GRCm38) |
D570G |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 20,989,560 (GRCm38) |
C611* |
probably null |
Het |
| Epop |
T |
C |
11: 97,628,654 (GRCm38) |
T210A |
probably benign |
Het |
| Erc2 |
A |
G |
14: 28,011,636 (GRCm38) |
I556V |
probably benign |
Het |
| Fdxacb1 |
A |
T |
9: 50,771,646 (GRCm38) |
N101I |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,982,162 (GRCm38) |
S294G |
possibly damaging |
Het |
| Galnt16 |
A |
G |
12: 80,583,656 (GRCm38) |
D262G |
probably damaging |
Het |
| Gorab |
A |
G |
1: 163,397,056 (GRCm38) |
S59P |
probably damaging |
Het |
| Gpr161 |
G |
T |
1: 165,306,563 (GRCm38) |
M131I |
probably damaging |
Het |
| Gpr22 |
T |
A |
12: 31,709,203 (GRCm38) |
M270L |
probably benign |
Het |
| Grin3b |
C |
T |
10: 79,974,646 (GRCm38) |
A662V |
probably damaging |
Het |
| Grin3b |
C |
A |
10: 79,970,912 (GRCm38) |
Q5K |
probably benign |
Het |
| Gsdmc |
A |
G |
15: 63,801,899 (GRCm38) |
I179T |
probably benign |
Het |
| Gsdmc2 |
T |
A |
15: 63,828,237 (GRCm38) |
M229L |
probably benign |
Het |
| H2-Eb2 |
A |
G |
17: 34,334,304 (GRCm38) |
I155V |
probably benign |
Het |
| Hoga1 |
A |
C |
19: 42,060,020 (GRCm38) |
|
probably null |
Het |
| Hs3st5 |
A |
G |
10: 36,832,886 (GRCm38) |
Y139C |
probably damaging |
Het |
| Il10ra |
C |
A |
9: 45,255,811 (GRCm38) |
A481S |
probably benign |
Het |
| Ints2 |
T |
A |
11: 86,248,934 (GRCm38) |
H278L |
possibly damaging |
Het |
| Kalrn |
T |
G |
16: 33,975,738 (GRCm38) |
L1222F |
probably damaging |
Het |
| Klhl25 |
T |
A |
7: 75,866,732 (GRCm38) |
V157D |
probably damaging |
Het |
| Klk1b26 |
A |
T |
7: 44,016,900 (GRCm38) |
T256S |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,462,554 (GRCm38) |
Q184R |
probably benign |
Het |
| Lce1k |
A |
T |
3: 92,806,818 (GRCm38) |
C20S |
unknown |
Het |
| Letm1 |
A |
AG |
5: 33,769,515 (GRCm38) |
|
probably null |
Het |
| Lin54 |
A |
G |
5: 100,485,801 (GRCm38) |
|
probably null |
Het |
| Lrrc37a |
T |
C |
11: 103,500,261 (GRCm38) |
E1446G |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,456,695 (GRCm38) |
S3792P |
probably damaging |
Het |
| Manba |
T |
A |
3: 135,551,191 (GRCm38) |
D538E |
probably benign |
Het |
| Mcc |
C |
A |
18: 44,491,315 (GRCm38) |
E213* |
probably null |
Het |
| Mfap4 |
T |
C |
11: 61,485,807 (GRCm38) |
|
probably null |
Het |
| Muc21 |
A |
T |
17: 35,618,708 (GRCm38) |
S1529T |
probably benign |
Het |
| Nebl |
T |
A |
2: 17,452,510 (GRCm38) |
I80F |
probably damaging |
Het |
| Nek4 |
A |
G |
14: 30,956,953 (GRCm38) |
I145V |
probably damaging |
Het |
| Nlrp14 |
T |
C |
7: 107,196,200 (GRCm38) |
V230A |
probably benign |
Het |
| Nxf3 |
G |
A |
X: 136,075,834 (GRCm38) |
P380S |
possibly damaging |
Het |
| Or11h6 |
G |
A |
14: 50,642,866 (GRCm38) |
C195Y |
possibly damaging |
Het |
| Or1a1 |
T |
C |
11: 74,196,163 (GRCm38) |
V220A |
probably damaging |
Het |
| Or5b99 |
T |
C |
19: 12,999,502 (GRCm38) |
V172A |
possibly damaging |
Het |
| Or5p66 |
C |
A |
7: 108,286,359 (GRCm38) |
G256* |
probably null |
Het |
| Or6k8-ps1 |
C |
T |
1: 174,152,121 (GRCm38) |
H202Y |
probably damaging |
Het |
| Pcdhb13 |
C |
T |
18: 37,443,859 (GRCm38) |
T430I |
possibly damaging |
Het |
| Piezo2 |
A |
T |
18: 63,074,662 (GRCm38) |
L1426Q |
probably null |
Het |
| Pigk |
T |
A |
3: 152,744,494 (GRCm38) |
Y212N |
probably damaging |
Het |
| Pigm |
T |
G |
1: 172,377,261 (GRCm38) |
L188R |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,777,924 (GRCm38) |
F2117S |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,173,543 (GRCm38) |
F4055L |
probably damaging |
Het |
| Plk5 |
C |
T |
10: 80,363,102 (GRCm38) |
S435L |
possibly damaging |
Het |
| Pms1 |
G |
A |
1: 53,282,042 (GRCm38) |
L11F |
probably damaging |
Het |
| Prl3b1 |
C |
T |
13: 27,247,912 (GRCm38) |
T140I |
possibly damaging |
Het |
| Prl7a1 |
T |
G |
13: 27,633,672 (GRCm38) |
D203A |
probably damaging |
Het |
| Psg17 |
A |
G |
7: 18,814,652 (GRCm38) |
V398A |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,718,218 (GRCm38) |
I166K |
possibly damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,169,016 (GRCm38) |
D108E |
probably damaging |
Het |
| Reln |
A |
T |
5: 21,969,360 (GRCm38) |
D1948E |
possibly damaging |
Het |
| Rnf112 |
C |
T |
11: 61,452,426 (GRCm38) |
R141Q |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,561,466 (GRCm38) |
V424A |
possibly damaging |
Het |
| Serpina3m |
C |
A |
12: 104,389,699 (GRCm38) |
Y208* |
probably null |
Het |
| Serpind1 |
T |
C |
16: 17,342,944 (GRCm38) |
V446A |
probably benign |
Het |
| Shc3 |
T |
A |
13: 51,442,836 (GRCm38) |
M384L |
probably benign |
Het |
| Slc38a11 |
A |
G |
2: 65,330,339 (GRCm38) |
F304L |
probably benign |
Het |
| Slpi |
C |
T |
2: 164,355,543 (GRCm38) |
C28Y |
probably damaging |
Het |
| Specc1 |
C |
A |
11: 62,029,294 (GRCm38) |
P7T |
possibly damaging |
Het |
| Spib |
T |
C |
7: 44,528,857 (GRCm38) |
E180G |
probably benign |
Het |
| Spint5 |
T |
C |
2: 164,716,983 (GRCm38) |
|
probably benign |
Het |
| Ssr2 |
T |
A |
3: 88,576,867 (GRCm38) |
|
probably benign |
Het |
| Tbrg1 |
T |
C |
9: 37,649,419 (GRCm38) |
D387G |
probably benign |
Het |
| Tex14 |
T |
G |
11: 87,549,470 (GRCm38) |
L1367R |
probably damaging |
Het |
| Tfpi |
A |
C |
2: 84,458,016 (GRCm38) |
|
probably benign |
Het |
| Tlr5 |
T |
A |
1: 182,974,347 (GRCm38) |
D405E |
probably damaging |
Het |
| Tnnt3 |
C |
T |
7: 142,511,525 (GRCm38) |
R131C |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,671,904 (GRCm38) |
V407A |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,682,251 (GRCm38) |
Y1013C |
probably damaging |
Het |
| Tpx2 |
T |
A |
2: 152,890,624 (GRCm38) |
M606K |
probably benign |
Het |
| Trim30a |
T |
A |
7: 104,430,230 (GRCm38) |
|
probably benign |
Het |
| Trim46 |
A |
T |
3: 89,237,701 (GRCm38) |
Y489N |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,796,284 (GRCm38) |
H380L |
probably benign |
Het |
| Tstd2 |
A |
G |
4: 46,120,563 (GRCm38) |
I279T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,946,391 (GRCm38) |
|
probably null |
Het |
| Txnl1 |
T |
C |
18: 63,679,514 (GRCm38) |
T70A |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,578,532 (GRCm38) |
|
probably benign |
Het |
| Usp1 |
A |
G |
4: 98,934,294 (GRCm38) |
D615G |
probably benign |
Het |
| Virma |
T |
A |
4: 11,519,242 (GRCm38) |
C830S |
probably benign |
Het |
| Vmn1r7 |
A |
T |
6: 57,024,868 (GRCm38) |
S136T |
probably benign |
Het |
| Vmn2r9 |
A |
G |
5: 108,846,439 (GRCm38) |
V448A |
probably damaging |
Het |
| Vps11 |
G |
A |
9: 44,359,227 (GRCm38) |
H183Y |
probably damaging |
Het |
| Vsig10l |
A |
G |
7: 43,467,468 (GRCm38) |
T476A |
possibly damaging |
Het |
| Whamm |
C |
T |
7: 81,591,771 (GRCm38) |
R277* |
probably null |
Het |
| Wnt8a |
A |
G |
18: 34,544,884 (GRCm38) |
D115G |
probably damaging |
Het |
| Xndc1 |
T |
A |
7: 102,073,191 (GRCm38) |
V21E |
probably damaging |
Het |
| Zc3hav1 |
C |
A |
6: 38,336,517 (GRCm38) |
V198L |
probably damaging |
Het |
| Zfp874a |
T |
A |
13: 67,442,504 (GRCm38) |
I354F |
probably benign |
Het |
| Zfr2 |
A |
T |
10: 81,242,852 (GRCm38) |
D306V |
possibly damaging |
Het |
|
| Other mutations in Cacna1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Cacna1b
|
APN |
2 |
24,651,200 (GRCm38) |
nonsense |
probably null |
|
|
IGL00508:Cacna1b
|
APN |
2 |
24,657,289 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01085:Cacna1b
|
APN |
2 |
24,678,994 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01310:Cacna1b
|
APN |
2 |
24,685,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01361:Cacna1b
|
APN |
2 |
24,679,095 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL01471:Cacna1b
|
APN |
2 |
24,657,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01537:Cacna1b
|
APN |
2 |
24,658,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01547:Cacna1b
|
APN |
2 |
24,632,035 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01750:Cacna1b
|
APN |
2 |
24,654,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01813:Cacna1b
|
APN |
2 |
24,609,890 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01939:Cacna1b
|
APN |
2 |
24,661,757 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01955:Cacna1b
|
APN |
2 |
24,639,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01972:Cacna1b
|
APN |
2 |
24,635,095 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01987:Cacna1b
|
APN |
2 |
24,697,567 (GRCm38) |
splice site |
probably null |
|
|
IGL02096:Cacna1b
|
APN |
2 |
24,678,915 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02111:Cacna1b
|
APN |
2 |
24,606,991 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02254:Cacna1b
|
APN |
2 |
24,616,815 (GRCm38) |
splice site |
probably null |
|
|
IGL03084:Cacna1b
|
APN |
2 |
24,609,932 (GRCm38) |
missense |
probably benign |
|
|
IGL03184:Cacna1b
|
APN |
2 |
24,658,489 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03202:Cacna1b
|
APN |
2 |
24,651,112 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03210:Cacna1b
|
APN |
2 |
24,650,572 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03402:Cacna1b
|
APN |
2 |
24,762,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4283001:Cacna1b
|
UTSW |
2 |
24,631,941 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0062:Cacna1b
|
UTSW |
2 |
24,758,331 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0062:Cacna1b
|
UTSW |
2 |
24,758,331 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0206:Cacna1b
|
UTSW |
2 |
24,607,480 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0208:Cacna1b
|
UTSW |
2 |
24,607,480 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0240:Cacna1b
|
UTSW |
2 |
24,638,657 (GRCm38) |
unclassified |
probably benign |
|
|
R0265:Cacna1b
|
UTSW |
2 |
24,761,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0352:Cacna1b
|
UTSW |
2 |
24,625,232 (GRCm38) |
intron |
probably benign |
|
|
R0376:Cacna1b
|
UTSW |
2 |
24,659,003 (GRCm38) |
splice site |
probably benign |
|
|
R0383:Cacna1b
|
UTSW |
2 |
24,761,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0432:Cacna1b
|
UTSW |
2 |
24,687,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0595:Cacna1b
|
UTSW |
2 |
24,649,989 (GRCm38) |
splice site |
probably benign |
|
|
R0660:Cacna1b
|
UTSW |
2 |
24,654,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0664:Cacna1b
|
UTSW |
2 |
24,654,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1107:Cacna1b
|
UTSW |
2 |
24,697,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1184:Cacna1b
|
UTSW |
2 |
24,687,745 (GRCm38) |
splice site |
probably null |
|
|
R1445:Cacna1b
|
UTSW |
2 |
24,718,136 (GRCm38) |
splice site |
probably benign |
|
|
R1446:Cacna1b
|
UTSW |
2 |
24,706,177 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1496:Cacna1b
|
UTSW |
2 |
24,678,035 (GRCm38) |
missense |
probably benign |
|
|
R1614:Cacna1b
|
UTSW |
2 |
24,690,807 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1626:Cacna1b
|
UTSW |
2 |
24,606,709 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1917:Cacna1b
|
UTSW |
2 |
24,616,879 (GRCm38) |
missense |
probably null |
0.80 |
|
R1984:Cacna1b
|
UTSW |
2 |
24,648,986 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1986:Cacna1b
|
UTSW |
2 |
24,648,986 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1989:Cacna1b
|
UTSW |
2 |
24,721,374 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1990:Cacna1b
|
UTSW |
2 |
24,732,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1992:Cacna1b
|
UTSW |
2 |
24,732,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2098:Cacna1b
|
UTSW |
2 |
24,650,546 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2139:Cacna1b
|
UTSW |
2 |
24,679,473 (GRCm38) |
missense |
probably benign |
0.07 |
|
R2196:Cacna1b
|
UTSW |
2 |
24,761,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2229:Cacna1b
|
UTSW |
2 |
24,685,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2292:Cacna1b
|
UTSW |
2 |
24,606,620 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2570:Cacna1b
|
UTSW |
2 |
24,606,637 (GRCm38) |
nonsense |
probably null |
|
|
R2850:Cacna1b
|
UTSW |
2 |
24,761,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2911:Cacna1b
|
UTSW |
2 |
24,607,541 (GRCm38) |
splice site |
probably null |
|
|
R2937:Cacna1b
|
UTSW |
2 |
24,606,528 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2938:Cacna1b
|
UTSW |
2 |
24,606,528 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3522:Cacna1b
|
UTSW |
2 |
24,763,043 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R3800:Cacna1b
|
UTSW |
2 |
24,658,959 (GRCm38) |
missense |
probably benign |
0.15 |
|
R4166:Cacna1b
|
UTSW |
2 |
24,677,911 (GRCm38) |
missense |
probably benign |
0.32 |
|
R4300:Cacna1b
|
UTSW |
2 |
24,635,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4366:Cacna1b
|
UTSW |
2 |
24,702,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4493:Cacna1b
|
UTSW |
2 |
24,652,938 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4494:Cacna1b
|
UTSW |
2 |
24,652,938 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4522:Cacna1b
|
UTSW |
2 |
24,654,430 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4612:Cacna1b
|
UTSW |
2 |
24,626,852 (GRCm38) |
nonsense |
probably null |
|
|
R4673:Cacna1b
|
UTSW |
2 |
24,631,944 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4703:Cacna1b
|
UTSW |
2 |
24,654,463 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4704:Cacna1b
|
UTSW |
2 |
24,654,463 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4777:Cacna1b
|
UTSW |
2 |
24,732,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4795:Cacna1b
|
UTSW |
2 |
24,637,487 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R4796:Cacna1b
|
UTSW |
2 |
24,637,487 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R4962:Cacna1b
|
UTSW |
2 |
24,657,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4962:Cacna1b
|
UTSW |
2 |
24,618,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4974:Cacna1b
|
UTSW |
2 |
24,648,523 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4990:Cacna1b
|
UTSW |
2 |
24,678,874 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5109:Cacna1b
|
UTSW |
2 |
24,690,785 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5117:Cacna1b
|
UTSW |
2 |
24,732,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5176:Cacna1b
|
UTSW |
2 |
24,635,131 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5253:Cacna1b
|
UTSW |
2 |
24,719,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5372:Cacna1b
|
UTSW |
2 |
24,733,959 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5374:Cacna1b
|
UTSW |
2 |
24,706,216 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5465:Cacna1b
|
UTSW |
2 |
24,650,426 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5568:Cacna1b
|
UTSW |
2 |
24,607,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5580:Cacna1b
|
UTSW |
2 |
24,650,554 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5677:Cacna1b
|
UTSW |
2 |
24,679,358 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R6277:Cacna1b
|
UTSW |
2 |
24,730,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6294:Cacna1b
|
UTSW |
2 |
24,719,057 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6609:Cacna1b
|
UTSW |
2 |
24,653,049 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6929:Cacna1b
|
UTSW |
2 |
24,632,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7016:Cacna1b
|
UTSW |
2 |
24,762,848 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7112:Cacna1b
|
UTSW |
2 |
24,690,761 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7162:Cacna1b
|
UTSW |
2 |
24,700,022 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7401:Cacna1b
|
UTSW |
2 |
24,679,294 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7402:Cacna1b
|
UTSW |
2 |
24,607,659 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7442:Cacna1b
|
UTSW |
2 |
24,607,501 (GRCm38) |
missense |
probably benign |
|
|
R7450:Cacna1b
|
UTSW |
2 |
24,635,135 (GRCm38) |
nonsense |
probably null |
|
|
R7481:Cacna1b
|
UTSW |
2 |
24,616,862 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7792:Cacna1b
|
UTSW |
2 |
24,677,965 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7999:Cacna1b
|
UTSW |
2 |
24,650,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8041:Cacna1b
|
UTSW |
2 |
24,657,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8084:Cacna1b
|
UTSW |
2 |
24,685,796 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8147:Cacna1b
|
UTSW |
2 |
24,679,176 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8170:Cacna1b
|
UTSW |
2 |
24,678,874 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8371:Cacna1b
|
UTSW |
2 |
24,720,024 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R8391:Cacna1b
|
UTSW |
2 |
24,706,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8723:Cacna1b
|
UTSW |
2 |
24,658,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8836:Cacna1b
|
UTSW |
2 |
24,652,970 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8856:Cacna1b
|
UTSW |
2 |
24,679,518 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8922:Cacna1b
|
UTSW |
2 |
24,732,328 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8940:Cacna1b
|
UTSW |
2 |
24,763,072 (GRCm38) |
unclassified |
probably benign |
|
|
R9140:Cacna1b
|
UTSW |
2 |
24,635,212 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9414:Cacna1b
|
UTSW |
2 |
24,648,502 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9476:Cacna1b
|
UTSW |
2 |
24,650,046 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9510:Cacna1b
|
UTSW |
2 |
24,650,046 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9520:Cacna1b
|
UTSW |
2 |
24,761,787 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9566:Cacna1b
|
UTSW |
2 |
24,608,080 (GRCm38) |
nonsense |
probably null |
|
|
R9671:Cacna1b
|
UTSW |
2 |
24,706,270 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9757:Cacna1b
|
UTSW |
2 |
24,719,101 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9784:Cacna1b
|
UTSW |
2 |
24,761,789 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9797:Cacna1b
|
UTSW |
2 |
24,618,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Cacna1b
|
UTSW |
2 |
24,733,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Cacna1b
|
UTSW |
2 |
24,661,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Cacna1b
|
UTSW |
2 |
24,626,884 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Cacna1b
|
UTSW |
2 |
24,678,988 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Z1177:Cacna1b
|
UTSW |
2 |
24,661,790 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Cacna1b
|
UTSW |
2 |
24,638,677 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGTTCTACTTTCTAGGTCTGGAAGC -3'
(R):5'- ATTCCCTGTCCCGAATTCAGG -3'
Sequencing Primer
(F):5'- ACTTTCTAGGTCTGGAAGCTCAGAAG -3'
(R):5'- GAATTCAGGCTCCCCACTTTCAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation