Incidental Mutation 'R5677:Cacna1b'
| ID |
442753 |
| 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 |
043316-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5677 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
24493899-24653164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24569370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 851
(H851Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100003
(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: H851Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113
AA Change: H851Q
| 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: H850Q
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113
AA Change: H850Q
| 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: H852Q
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113
AA Change: H852Q
| 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: H851Q
PolyPhen 2
Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113
AA Change: H851Q
| 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: H852Q
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113
AA Change: H852Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
94 |
367 |
8.5e-69 |
PFAM |
|
Pfam:Ion_trans
|
482 |
721 |
2.4e-57 |
PFAM |
|
Pfam:PKD_channel
|
571 |
715 |
1e-7 |
PFAM |
|
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
914 |
N/A |
INTRINSIC |
|
low complexity region
|
917 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
1092 |
1103 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1139 |
1421 |
1.3e-62 |
PFAM |
|
Pfam:Ion_trans
|
1464 |
1711 |
3.2e-64 |
PFAM |
|
Pfam:PKD_channel
|
1550 |
1706 |
2.7e-9 |
PFAM |
|
Pfam:GPHH
|
1713 |
1783 |
1.9e-39 |
PFAM |
|
Ca_chan_IQ
|
1838 |
1872 |
1.09e-11 |
SMART |
|
low complexity region
|
2041 |
2051 |
N/A |
INTRINSIC |
|
low complexity region
|
2093 |
2115 |
N/A |
INTRINSIC |
|
low complexity region
|
2277 |
2293 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121558
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124183
|
| SMART Domains |
Protein: ENSMUSP00000114605
Gene: ENSMUSG00000004113
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 116 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
C |
T |
10: 28,862,225 (GRCm39) |
V22I |
probably benign |
Het |
| Abca8a |
A |
T |
11: 109,929,225 (GRCm39) |
V1296D |
possibly damaging |
Het |
| Abca8b |
C |
T |
11: 109,831,687 (GRCm39) |
S1328N |
probably damaging |
Het |
| Adcy1 |
G |
A |
11: 7,111,914 (GRCm39) |
M926I |
probably damaging |
Het |
| Aff4 |
G |
T |
11: 53,291,102 (GRCm39) |
M687I |
possibly damaging |
Het |
| Agbl2 |
T |
A |
2: 90,638,322 (GRCm39) |
Y636N |
possibly damaging |
Het |
| Agtr1a |
A |
T |
13: 30,565,567 (GRCm39) |
I211F |
probably damaging |
Het |
| Alkbh8 |
T |
G |
9: 3,385,147 (GRCm39) |
S480A |
possibly damaging |
Het |
| Ankrd13b |
A |
T |
11: 77,368,370 (GRCm39) |
V84E |
probably damaging |
Het |
| Ap3b1 |
C |
T |
13: 94,664,704 (GRCm39) |
T881I |
unknown |
Het |
| Apbb1 |
A |
C |
7: 105,208,453 (GRCm39) |
D617E |
probably damaging |
Het |
| Apobec4 |
A |
G |
1: 152,633,033 (GRCm39) |
R354G |
probably benign |
Het |
| Brdt |
T |
G |
5: 107,496,483 (GRCm39) |
C198W |
possibly damaging |
Het |
| Car2 |
G |
T |
3: 14,963,115 (GRCm39) |
V217F |
possibly damaging |
Het |
| Ccdc24 |
A |
C |
4: 117,727,077 (GRCm39) |
|
probably benign |
Het |
| Chodl |
C |
A |
16: 78,738,203 (GRCm39) |
A57E |
probably damaging |
Het |
| Clgn |
G |
T |
8: 84,136,167 (GRCm39) |
C185F |
probably damaging |
Het |
| Cltc |
G |
T |
11: 86,596,068 (GRCm39) |
N1223K |
probably damaging |
Het |
| Cnot10 |
T |
C |
9: 114,458,161 (GRCm39) |
N115S |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,606,603 (GRCm39) |
R607G |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,690,651 (GRCm39) |
V835A |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,947,177 (GRCm39) |
P186L |
probably benign |
Het |
| Csmd3 |
G |
C |
15: 48,485,447 (GRCm39) |
L153V |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,643,209 (GRCm39) |
H527R |
probably benign |
Het |
| Cwc22 |
G |
A |
2: 77,759,787 (GRCm39) |
R87W |
probably damaging |
Het |
| D930020B18Rik |
T |
A |
10: 121,505,106 (GRCm39) |
N107K |
probably benign |
Het |
| Dgkg |
C |
A |
16: 22,388,921 (GRCm39) |
V418L |
probably benign |
Het |
| Dhx40 |
A |
G |
11: 86,691,789 (GRCm39) |
|
probably null |
Het |
| Diaph1 |
A |
T |
18: 37,989,004 (GRCm39) |
M910K |
probably damaging |
Het |
| Diras2 |
T |
A |
13: 52,661,711 (GRCm39) |
M199L |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock5 |
T |
A |
14: 68,015,052 (GRCm39) |
Q1302H |
probably benign |
Het |
| Dync1i2 |
T |
C |
2: 71,058,967 (GRCm39) |
S90P |
probably benign |
Het |
| E2f8 |
A |
T |
7: 48,516,943 (GRCm39) |
V812E |
probably damaging |
Het |
| Egfem1 |
C |
A |
3: 29,744,323 (GRCm39) |
Q521K |
probably damaging |
Het |
| Fbxl18 |
A |
T |
5: 142,864,475 (GRCm39) |
C699* |
probably null |
Het |
| Fgf3 |
C |
T |
7: 144,392,520 (GRCm39) |
R26* |
probably null |
Het |
| Fpr-rs7 |
T |
G |
17: 20,334,365 (GRCm39) |
I42L |
probably benign |
Het |
| Gm3159 |
T |
A |
14: 4,398,582 (GRCm38) |
M91K |
probably damaging |
Het |
| Gprin3 |
A |
G |
6: 59,330,877 (GRCm39) |
S477P |
possibly damaging |
Het |
| Grm8 |
A |
T |
6: 27,761,203 (GRCm39) |
|
probably null |
Het |
| Hepacam2 |
A |
T |
6: 3,466,142 (GRCm39) |
D420E |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,485,529 (GRCm39) |
W4358R |
probably benign |
Het |
| Ifna6 |
G |
A |
4: 88,745,956 (GRCm39) |
A102T |
probably benign |
Het |
| Ighv2-2 |
T |
C |
12: 113,552,142 (GRCm39) |
Q32R |
probably benign |
Het |
| Igkv1-131 |
T |
A |
6: 67,743,242 (GRCm39) |
Q47L |
possibly damaging |
Het |
| Il16 |
T |
C |
7: 83,323,761 (GRCm39) |
E263G |
probably damaging |
Het |
| Kansl1 |
A |
T |
11: 104,225,974 (GRCm39) |
C981S |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,410,298 (GRCm39) |
F1483I |
probably damaging |
Het |
| Ltf |
T |
C |
9: 110,849,980 (GRCm39) |
M1T |
probably null |
Het |
| Ly75 |
C |
T |
2: 60,129,426 (GRCm39) |
R1653H |
probably benign |
Het |
| Macrod2 |
T |
C |
2: 142,018,587 (GRCm39) |
F240S |
probably damaging |
Het |
| Man1c1 |
T |
C |
4: 134,296,371 (GRCm39) |
E433G |
probably damaging |
Het |
| Mansc4 |
A |
T |
6: 146,983,047 (GRCm39) |
M130K |
probably benign |
Het |
| Mccc1 |
C |
T |
3: 36,044,197 (GRCm39) |
|
probably null |
Het |
| Mink1 |
G |
T |
11: 70,495,991 (GRCm39) |
R75L |
possibly damaging |
Het |
| Mst1 |
A |
G |
9: 107,958,485 (GRCm39) |
D65G |
probably damaging |
Het |
| Myo9b |
C |
T |
8: 71,796,330 (GRCm39) |
A857V |
probably damaging |
Het |
| Ndufa4 |
A |
G |
6: 11,900,574 (GRCm39) |
V70A |
probably benign |
Het |
| Npat |
T |
A |
9: 53,466,400 (GRCm39) |
S230T |
probably benign |
Het |
| Nr1d1 |
A |
G |
11: 98,662,134 (GRCm39) |
Y167H |
probably damaging |
Het |
| Oca2 |
A |
G |
7: 56,064,210 (GRCm39) |
D735G |
probably damaging |
Het |
| Odr4 |
G |
A |
1: 150,250,588 (GRCm39) |
L319F |
probably damaging |
Het |
| Or2a7 |
T |
C |
6: 43,151,265 (GRCm39) |
V115A |
probably benign |
Het |
| Or2b2 |
C |
T |
13: 21,887,393 (GRCm39) |
T74I |
probably benign |
Het |
| Or2y13 |
A |
G |
11: 49,414,771 (GRCm39) |
T74A |
probably damaging |
Het |
| Or7g20 |
T |
A |
9: 18,946,854 (GRCm39) |
I145N |
possibly damaging |
Het |
| Otop1 |
A |
G |
5: 38,457,507 (GRCm39) |
Y422C |
probably damaging |
Het |
| Pde4dip |
G |
A |
3: 97,748,964 (GRCm39) |
R126* |
probably null |
Het |
| Pdp2 |
C |
T |
8: 105,321,320 (GRCm39) |
P390S |
probably damaging |
Het |
| Pds5b |
A |
T |
5: 150,639,926 (GRCm39) |
T14S |
possibly damaging |
Het |
| Pfkp |
T |
C |
13: 6,638,631 (GRCm39) |
E580G |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,250,767 (GRCm39) |
L212Q |
possibly damaging |
Het |
| Piezo2 |
G |
C |
18: 63,250,768 (GRCm39) |
L444V |
probably benign |
Het |
| Pla2g4d |
T |
A |
2: 120,109,429 (GRCm39) |
T207S |
possibly damaging |
Het |
| Plk2 |
C |
A |
13: 110,535,591 (GRCm39) |
T471K |
possibly damaging |
Het |
| Potefam1 |
T |
C |
2: 111,041,910 (GRCm39) |
T342A |
probably benign |
Het |
| Potegl |
T |
A |
2: 23,102,730 (GRCm39) |
L156Q |
probably damaging |
Het |
| Ppp1r3g |
G |
A |
13: 36,153,245 (GRCm39) |
E222K |
probably damaging |
Het |
| Pramel28 |
A |
T |
4: 143,691,708 (GRCm39) |
D338E |
possibly damaging |
Het |
| Prkcg |
A |
G |
7: 3,371,974 (GRCm39) |
D480G |
probably damaging |
Het |
| Pxdc1 |
T |
A |
13: 34,836,178 (GRCm39) |
T81S |
probably benign |
Het |
| Rnf150 |
A |
T |
8: 83,730,228 (GRCm39) |
K253* |
probably null |
Het |
| Sae1 |
T |
C |
7: 16,104,387 (GRCm39) |
|
probably null |
Het |
| Scin |
C |
T |
12: 40,113,258 (GRCm39) |
D538N |
probably damaging |
Het |
| Serpinb3c |
C |
A |
1: 107,199,533 (GRCm39) |
K329N |
probably damaging |
Het |
| Sgo2b |
T |
A |
8: 64,380,008 (GRCm39) |
K941N |
possibly damaging |
Het |
| Six1 |
C |
T |
12: 73,093,058 (GRCm39) |
S48N |
possibly damaging |
Het |
| Slc39a8 |
G |
A |
3: 135,590,449 (GRCm39) |
G381R |
probably damaging |
Het |
| Slc9b1 |
A |
G |
3: 135,063,320 (GRCm39) |
K35E |
unknown |
Het |
| Srek1 |
C |
T |
13: 103,895,752 (GRCm39) |
A274T |
probably damaging |
Het |
| Steap2 |
A |
T |
5: 5,727,497 (GRCm39) |
Y279* |
probably null |
Het |
| Svil |
T |
A |
18: 5,046,823 (GRCm39) |
L110* |
probably null |
Het |
| Syncrip |
T |
C |
9: 88,338,762 (GRCm39) |
|
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,737,443 (GRCm39) |
I1336T |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,155,451 (GRCm39) |
K36* |
probably null |
Het |
| Tenm2 |
A |
G |
11: 36,032,510 (GRCm39) |
V670A |
probably damaging |
Het |
| Thbd |
G |
A |
2: 148,249,286 (GRCm39) |
T194I |
probably damaging |
Het |
| Tm9sf2 |
A |
T |
14: 122,389,374 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
A |
T |
14: 123,187,911 (GRCm39) |
I225N |
probably damaging |
Het |
| Tpp1 |
C |
T |
7: 105,396,743 (GRCm39) |
V425M |
probably damaging |
Het |
| Trbc2 |
T |
A |
6: 41,524,746 (GRCm39) |
Y144* |
probably null |
Het |
| Trps1 |
T |
C |
15: 50,709,504 (GRCm39) |
D282G |
probably damaging |
Het |
| Tsc22d4 |
T |
A |
5: 137,745,404 (GRCm39) |
S9R |
probably damaging |
Het |
| Upp1 |
T |
A |
11: 9,086,025 (GRCm39) |
D287E |
probably benign |
Het |
| Uso1 |
A |
C |
5: 92,349,158 (GRCm39) |
Q916H |
probably damaging |
Het |
| Uty |
T |
A |
Y: 1,134,902 (GRCm39) |
Y884F |
probably damaging |
Het |
| Vmn1r222 |
T |
C |
13: 23,416,950 (GRCm39) |
R88G |
probably damaging |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,928 (GRCm39) |
V270A |
possibly damaging |
Het |
| Zbtb22 |
T |
C |
17: 34,136,709 (GRCm39) |
S285P |
probably benign |
Het |
| Zfp385a |
A |
G |
15: 103,226,492 (GRCm39) |
V82A |
probably damaging |
Het |
| Zfp59 |
T |
C |
7: 27,553,594 (GRCm39) |
F349L |
probably benign |
Het |
| Zfp780b |
T |
G |
7: 27,662,224 (GRCm39) |
H777P |
probably benign |
Het |
| Zfp82 |
T |
C |
7: 29,756,549 (GRCm39) |
T178A |
probably benign |
Het |
| Zfp850 |
T |
C |
7: 27,688,513 (GRCm39) |
Y565C |
probably damaging |
Het |
| Zfp957 |
A |
G |
14: 79,450,207 (GRCm39) |
Y531H |
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 |
|
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 |
|
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'- TGCTTGAGTCCTGTGCATGC -3'
(R):5'- TGTACAGTGAGATGGACCCTG -3'
Sequencing Primer
(F):5'- CCGGTGGTGACGTCTACTG -3'
(R):5'- ATGGACCCTGAGGAGCG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation