Incidental Mutation 'R7402:Cacna1b'
| ID |
574232 |
| 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 |
045484-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7402 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
24493899-24653164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24497671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 2079
(L2079Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041342]
[ENSMUST00000070864]
[ENSMUST00000100348]
[ENSMUST00000102939]
[ENSMUST00000114447]
[ENSMUST00000131861]
[ENSMUST00000133892]
|
| AlphaFold |
O55017 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041342
AA Change: L2079Q
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113
AA Change: L2079Q
| 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: L2040Q
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113
AA Change: L2040Q
| 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 |
possibly damaging
Transcript: ENSMUST00000100348
AA Change: L2080Q
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113
AA Change: L2080Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
133 |
355 |
1.4e-57 |
PFAM |
|
PDB:4DEX|B
|
358 |
468 |
5e-68 |
PDB |
|
Pfam:Ion_trans
|
517 |
709 |
1.2e-47 |
PFAM |
|
Pfam:PKD_channel
|
570 |
716 |
1.6e-7 |
PFAM |
|
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
917 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
1092 |
1103 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1175 |
1409 |
3.2e-52 |
PFAM |
|
Pfam:Ion_trans
|
1499 |
1699 |
1.4e-59 |
PFAM |
|
Pfam:PKD_channel
|
1552 |
1706 |
5.6e-9 |
PFAM |
|
Ca_chan_IQ
|
1838 |
1872 |
1.09e-11 |
SMART |
|
low complexity region
|
2041 |
2051 |
N/A |
INTRINSIC |
|
low complexity region
|
2093 |
2115 |
N/A |
INTRINSIC |
|
low complexity region
|
2277 |
2293 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102939
AA Change: L2077Q
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113
AA Change: L2077Q
| 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 |
possibly damaging
Transcript: ENSMUST00000114447
AA Change: L2080Q
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113
AA Change: L2080Q
| 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 benign
Transcript: ENSMUST00000131861
|
| SMART Domains |
Protein: ENSMUSP00000141653
Gene: ENSMUSG00000004113
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
110 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133892
|
| SMART Domains |
Protein: ENSMUSP00000115285
Gene: ENSMUSG00000004113
| Domain | Start | End | E-Value | Type |
|---|
|
Ca_chan_IQ
|
23 |
57 |
1.09e-11 |
SMART |
|
low complexity region
|
215 |
225 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
G |
T |
14: 118,943,487 (GRCm39) |
P12Q |
probably damaging |
Het |
| Acsf3 |
A |
G |
8: 123,507,163 (GRCm39) |
Y152C |
probably damaging |
Het |
| Adam22 |
T |
A |
5: 8,145,049 (GRCm39) |
Q803L |
possibly damaging |
Het |
| Adamtsl3 |
G |
A |
7: 82,227,825 (GRCm39) |
V1337I |
probably damaging |
Het |
| Adra1b |
T |
C |
11: 43,666,845 (GRCm39) |
D464G |
possibly damaging |
Het |
| Alpk3 |
T |
A |
7: 80,726,660 (GRCm39) |
I115K |
probably benign |
Het |
| Amdhd2 |
A |
G |
17: 24,380,657 (GRCm39) |
S96P |
|
Het |
| Ankib1 |
T |
G |
5: 3,819,586 (GRCm39) |
D111A |
probably benign |
Het |
| Arhgef2 |
A |
G |
3: 88,540,873 (GRCm39) |
D216G |
probably damaging |
Het |
| Astn1 |
A |
T |
1: 158,380,425 (GRCm39) |
|
probably benign |
Het |
| Atosa |
C |
A |
9: 74,913,668 (GRCm39) |
Y107* |
probably null |
Het |
| Atrn |
T |
A |
2: 130,789,520 (GRCm39) |
W328R |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,095,427 (GRCm38) |
H375L |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,980,915 (GRCm39) |
N1579Y |
probably damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,629,981 (GRCm39) |
K520R |
probably damaging |
Het |
| Cd2ap |
T |
C |
17: 43,116,054 (GRCm39) |
H602R |
possibly damaging |
Het |
| Cdkn2aip |
A |
G |
8: 48,164,408 (GRCm39) |
V435A |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,391,575 (GRCm39) |
Y735* |
probably null |
Het |
| Cep350 |
T |
A |
1: 155,803,961 (GRCm39) |
I1041L |
probably benign |
Het |
| Ckap4 |
A |
G |
10: 84,363,863 (GRCm39) |
V400A |
probably damaging |
Het |
| Comp |
T |
A |
8: 70,829,854 (GRCm39) |
D359E |
probably benign |
Het |
| Coq10b |
A |
C |
1: 55,100,500 (GRCm39) |
K61N |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,215,889 (GRCm39) |
S548N |
|
Het |
| Csmd2 |
A |
C |
4: 128,215,888 (GRCm39) |
S548R |
|
Het |
| Ctif |
A |
G |
18: 75,744,807 (GRCm39) |
I99T |
probably benign |
Het |
| Ctns |
T |
G |
11: 73,083,903 (GRCm39) |
T40P |
possibly damaging |
Het |
| Cyp11b1 |
C |
T |
15: 74,712,674 (GRCm39) |
R129H |
probably damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,729,318 (GRCm39) |
N56K |
probably benign |
Het |
| D6Wsu163e |
A |
G |
6: 126,938,968 (GRCm39) |
K401R |
probably damaging |
Het |
| Dstn |
T |
A |
2: 143,780,368 (GRCm39) |
C23S |
probably benign |
Het |
| Fam72a |
A |
T |
1: 131,466,613 (GRCm39) |
E132D |
probably damaging |
Het |
| Fam72a |
G |
T |
1: 131,466,614 (GRCm39) |
E133* |
probably null |
Het |
| Gbp8 |
T |
A |
5: 105,179,161 (GRCm39) |
I113F |
probably damaging |
Het |
| Gm3095 |
A |
T |
14: 15,170,332 (GRCm39) |
R60S |
possibly damaging |
Het |
| Gpa33 |
A |
T |
1: 165,980,263 (GRCm39) |
M109L |
probably damaging |
Het |
| Grik2 |
A |
G |
10: 49,411,493 (GRCm39) |
L215P |
probably damaging |
Het |
| Gucy2g |
A |
C |
19: 55,194,725 (GRCm39) |
F897L |
probably damaging |
Het |
| Hinfp |
A |
G |
9: 44,209,314 (GRCm39) |
L295P |
probably damaging |
Het |
| Ift122 |
T |
C |
6: 115,871,283 (GRCm39) |
V526A |
probably benign |
Het |
| Ighv5-12 |
T |
C |
12: 113,665,853 (GRCm39) |
T82A |
probably benign |
Het |
| Il18rap |
T |
A |
1: 40,564,111 (GRCm39) |
S76R |
probably benign |
Het |
| Itga6 |
A |
T |
2: 71,683,897 (GRCm39) |
N1045I |
probably benign |
Het |
| Kctd21 |
A |
T |
7: 96,996,970 (GRCm39) |
I148F |
possibly damaging |
Het |
| Kif28 |
T |
A |
1: 179,567,644 (GRCm39) |
H42L |
probably benign |
Het |
| Kmt2c |
A |
C |
5: 25,600,418 (GRCm39) |
C326W |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,925,707 (GRCm39) |
L1912* |
probably null |
Het |
| Lrfn1 |
A |
T |
7: 28,158,947 (GRCm39) |
I289F |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,057,185 (GRCm39) |
K205R |
possibly damaging |
Het |
| Mbd5 |
A |
T |
2: 49,147,566 (GRCm39) |
N592I |
probably damaging |
Het |
| Mbl2 |
A |
G |
19: 30,216,802 (GRCm39) |
N205D |
possibly damaging |
Het |
| Mcm4 |
C |
A |
16: 15,455,042 (GRCm39) |
M1I |
probably null |
Het |
| Mgat4a |
T |
A |
1: 37,493,865 (GRCm39) |
H327L |
probably damaging |
Het |
| Miox |
A |
G |
15: 89,219,206 (GRCm39) |
D16G |
probably benign |
Het |
| Mvk |
C |
A |
5: 114,594,039 (GRCm39) |
P298Q |
possibly damaging |
Het |
| Nol6 |
A |
G |
4: 41,118,699 (GRCm39) |
L726P |
probably damaging |
Het |
| Nos1 |
T |
C |
5: 118,087,880 (GRCm39) |
I1381T |
probably benign |
Het |
| Nup98 |
A |
T |
7: 101,784,144 (GRCm39) |
S1063T |
probably benign |
Het |
| Obscn |
T |
G |
11: 58,886,275 (GRCm39) |
M7862L |
unknown |
Het |
| Obsl1 |
T |
C |
1: 75,464,348 (GRCm39) |
T1653A |
probably benign |
Het |
| Odr4 |
A |
G |
1: 150,262,107 (GRCm39) |
|
probably null |
Het |
| Or4c105 |
G |
T |
2: 88,647,687 (GRCm39) |
M57I |
probably damaging |
Het |
| Or8g53 |
T |
A |
9: 39,683,260 (GRCm39) |
T279S |
probably benign |
Het |
| Or8u9 |
A |
G |
2: 86,001,546 (GRCm39) |
I205T |
probably benign |
Het |
| Or9q2 |
C |
T |
19: 13,772,358 (GRCm39) |
V206I |
probably damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,005 (GRCm39) |
Y177C |
probably benign |
Het |
| Pcdhb3 |
A |
C |
18: 37,434,657 (GRCm39) |
I208L |
probably benign |
Het |
| Phlpp1 |
G |
T |
1: 106,317,420 (GRCm39) |
G1214W |
probably damaging |
Het |
| Ppp4r3a |
A |
T |
12: 101,025,053 (GRCm39) |
S149T |
possibly damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,438 (GRCm39) |
C872R |
probably damaging |
Het |
| Rarb |
A |
G |
14: 16,548,419 (GRCm38) |
C101R |
probably damaging |
Het |
| Rcor3 |
A |
C |
1: 191,812,283 (GRCm39) |
V114G |
probably benign |
Het |
| Rnpepl1 |
A |
G |
1: 92,847,372 (GRCm39) |
Q653R |
probably benign |
Het |
| Rpap2 |
T |
A |
5: 107,768,324 (GRCm39) |
Y387* |
probably null |
Het |
| Rttn |
C |
T |
18: 89,004,035 (GRCm39) |
T343M |
possibly damaging |
Het |
| Samd11 |
T |
C |
4: 156,333,230 (GRCm39) |
T333A |
probably benign |
Het |
| Six5 |
T |
C |
7: 18,828,968 (GRCm39) |
L136P |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,824,852 (GRCm39) |
M419K |
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,851,226 (GRCm39) |
M179V |
probably benign |
Het |
| Slc35a4 |
A |
G |
18: 36,813,570 (GRCm39) |
D6G |
unknown |
Het |
| Spdye4c |
A |
T |
2: 128,434,261 (GRCm39) |
M1L |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,069,699 (GRCm39) |
C2696S |
possibly damaging |
Het |
| Tceanc2 |
T |
C |
4: 107,004,893 (GRCm39) |
N85S |
probably benign |
Het |
| Teddm2 |
G |
C |
1: 153,726,344 (GRCm39) |
L124V |
probably benign |
Het |
| Teddm2 |
A |
T |
1: 153,726,343 (GRCm39) |
L124Q |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,405,623 (GRCm39) |
W409R |
probably damaging |
Het |
| Tkt |
A |
G |
14: 30,280,755 (GRCm39) |
D62G |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,768,501 (GRCm39) |
V1054D |
probably damaging |
Het |
| Trpm7 |
C |
A |
2: 126,641,126 (GRCm39) |
L1564F |
probably damaging |
Het |
| Vmn1r43 |
A |
T |
6: 89,846,803 (GRCm39) |
C228S |
probably benign |
Het |
| Vmn2r106 |
T |
C |
17: 20,487,883 (GRCm39) |
R839G |
probably damaging |
Het |
| Vmn2r5 |
G |
A |
3: 64,403,176 (GRCm39) |
T523I |
probably benign |
Het |
| Vwa3b |
C |
T |
1: 37,153,678 (GRCm39) |
Q507* |
probably null |
Het |
| Wrn |
C |
G |
8: 33,738,994 (GRCm39) |
W1278S |
probably benign |
Het |
| Zfp281 |
T |
G |
1: 136,553,190 (GRCm39) |
L56R |
probably damaging |
Het |
| Zfp407 |
G |
A |
18: 84,579,661 (GRCm39) |
T484I |
probably benign |
Het |
| Zfp451 |
T |
C |
1: 33,852,843 (GRCm39) |
T24A |
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,392,919 (GRCm39) |
F16I |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,905,670 (GRCm39) |
V41E |
possibly 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 |
|
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 |
|
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'- CTACTGAGTGAGGGCATCAG -3'
(R):5'- AATGCTTATGGCCTGACTGG -3'
Sequencing Primer
(F):5'- ATCAGTTGCGGGGGCTC -3'
(R):5'- ATATGGTCCCAGAATCTGCCATTGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation