Incidental Mutation 'R8804:Cadps2'
| ID |
671910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cadps2
|
| Ensembl Gene |
ENSMUSG00000017978 |
| Gene Name |
Ca2+-dependent activator protein for secretion 2 |
| Synonyms |
Caps2, cpd2, A230044C21Rik |
| MMRRC Submission |
068641-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8804 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
23262773-23839421 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23496806 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 480
(I480N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018122]
[ENSMUST00000069074]
[ENSMUST00000115356]
[ENSMUST00000115358]
[ENSMUST00000115361]
[ENSMUST00000125350]
[ENSMUST00000142913]
[ENSMUST00000163871]
[ENSMUST00000166458]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018122
AA Change: I480N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018122
Gene: ENSMUSG00000017978
AA Change: I480N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
|
C2
|
369 |
467 |
1.51e-1 |
SMART |
|
PH
|
492 |
596 |
2.94e-11 |
SMART |
|
DUF1041
|
801 |
902 |
1.14e-52 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069074
AA Change: I480N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064876
Gene: ENSMUSG00000017978
AA Change: I480N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
|
C2
|
369 |
467 |
1.51e-1 |
SMART |
|
PH
|
492 |
596 |
2.94e-11 |
SMART |
|
DUF1041
|
801 |
895 |
5.54e-51 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115356
AA Change: I480N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111013
Gene: ENSMUSG00000017978
AA Change: I480N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
|
C2
|
369 |
467 |
1.51e-1 |
SMART |
|
PH
|
492 |
596 |
2.94e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115358
AA Change: I480N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111015
Gene: ENSMUSG00000017978
AA Change: I480N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
|
C2
|
369 |
467 |
1.51e-1 |
SMART |
|
PH
|
492 |
596 |
2.94e-11 |
SMART |
|
DUF1041
|
801 |
902 |
1.14e-52 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115361
AA Change: I480N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111018
Gene: ENSMUSG00000017978
AA Change: I480N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
|
C2
|
369 |
467 |
1.51e-1 |
SMART |
|
PH
|
492 |
596 |
2.94e-11 |
SMART |
|
DUF1041
|
801 |
892 |
1.9e-49 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125350
AA Change: I125N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115866
Gene: ENSMUSG00000017978
AA Change: I125N
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
14 |
112 |
1.51e-1 |
SMART |
|
PH
|
137 |
241 |
2.94e-11 |
SMART |
|
DUF1041
|
446 |
537 |
1.9e-49 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142913
AA Change: I451N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138167
Gene: ENSMUSG00000017978
AA Change: I451N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
coiled coil region
|
236 |
256 |
N/A |
INTRINSIC |
|
C2
|
340 |
438 |
1.51e-1 |
SMART |
|
PH
|
463 |
567 |
2.94e-11 |
SMART |
|
DUF1041
|
772 |
873 |
1.14e-52 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163871
AA Change: I480N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128905
Gene: ENSMUSG00000017978
AA Change: I480N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
265 |
285 |
N/A |
INTRINSIC |
|
C2
|
369 |
467 |
1.51e-1 |
SMART |
|
PH
|
492 |
596 |
2.94e-11 |
SMART |
|
DUF1041
|
801 |
902 |
7.2e-50 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166458
AA Change: I451N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125972
Gene: ENSMUSG00000017978
AA Change: I451N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
coiled coil region
|
236 |
256 |
N/A |
INTRINSIC |
|
C2
|
340 |
438 |
1.51e-1 |
SMART |
|
PH
|
463 |
567 |
2.94e-11 |
SMART |
|
DUF1041
|
772 |
873 |
1.05e-51 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (79/81) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit defects in cerebellum, Purkinje cell and interneuron morphology, paired-pulse facilitation, and behaviors including emotional behavior, vestibuoocular reflex, circadium and sleep patterns, social investigation and nurturing behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
T |
C |
3: 19,628,656 (GRCm38) |
|
probably benign |
Het |
| Adamts1 |
A |
G |
16: 85,802,412 (GRCm38) |
F100S |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,869,912 (GRCm38) |
|
probably benign |
Het |
| Adgrb2 |
T |
A |
4: 130,005,419 (GRCm38) |
W309R |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,847,016 (GRCm38) |
V617E |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,658,607 (GRCm38) |
E169G |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,547,706 (GRCm38) |
T600A |
probably benign |
Het |
| B4galt3 |
C |
T |
1: 171,276,374 (GRCm38) |
H395Y |
probably benign |
Het |
| BC024139 |
T |
G |
15: 76,124,084 (GRCm38) |
T376P |
possibly damaging |
Het |
| Bin3 |
A |
G |
14: 70,123,847 (GRCm38) |
R22G |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,602,624 (GRCm38) |
T401A |
probably benign |
Het |
| Cdhr5 |
T |
C |
7: 141,269,407 (GRCm38) |
T747A |
probably benign |
Het |
| Chn2 |
A |
G |
6: 54,273,076 (GRCm38) |
I193V |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,839,137 (GRCm38) |
N363S |
probably benign |
Het |
| Clec7a |
T |
C |
6: 129,465,555 (GRCm38) |
T125A |
probably benign |
Het |
| Cys1 |
A |
T |
12: 24,668,611 (GRCm38) |
L81Q |
unknown |
Het |
| Dcbld2 |
G |
A |
16: 58,461,049 (GRCm38) |
|
probably benign |
Het |
| Ddx60 |
T |
A |
8: 61,958,606 (GRCm38) |
D497E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,465,685 (GRCm38) |
I2117V |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,065,773 (GRCm38) |
S3274F |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,605,183 (GRCm38) |
I1225N |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,869,339 (GRCm38) |
T290A |
probably benign |
Het |
| Elmod2 |
T |
A |
8: 83,319,521 (GRCm38) |
K142N |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,087,020 (GRCm38) |
T441A |
probably benign |
Het |
| Fam234a |
A |
G |
17: 26,216,557 (GRCm38) |
|
probably benign |
Het |
| Fer1l4 |
C |
A |
2: 156,051,994 (GRCm38) |
E102D |
probably benign |
Het |
| Fermt3 |
A |
G |
19: 7,014,326 (GRCm38) |
|
probably benign |
Het |
| Fgd5 |
C |
T |
6: 91,987,526 (GRCm38) |
R247C |
probably benign |
Het |
| Gm14443 |
G |
A |
2: 175,169,859 (GRCm38) |
H265Y |
probably damaging |
Het |
| Gm8251 |
T |
C |
1: 44,056,649 (GRCm38) |
N1763S |
probably benign |
Het |
| Gykl1 |
A |
G |
18: 52,694,536 (GRCm38) |
D272G |
probably benign |
Het |
| Hip1r |
T |
C |
5: 124,001,512 (GRCm38) |
S952P |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,425,381 (GRCm38) |
N3714S |
probably benign |
Het |
| Hrasls |
T |
A |
16: 29,220,453 (GRCm38) |
V95E |
probably benign |
Het |
| Ighv1-36 |
G |
T |
12: 114,879,961 (GRCm38) |
T93K |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,336,455 (GRCm38) |
T153P |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 64,750,342 (GRCm38) |
C773R |
probably damaging |
Het |
| Lipf |
T |
A |
19: 33,964,798 (GRCm38) |
Y43N |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,264,904 (GRCm38) |
D90G |
probably damaging |
Het |
| Msh5 |
A |
T |
17: 35,032,854 (GRCm38) |
I410K |
probably benign |
Het |
| Mylk3 |
T |
C |
8: 85,359,245 (GRCm38) |
D220G |
probably benign |
Het |
| Ncdn |
G |
A |
4: 126,750,105 (GRCm38) |
A308V |
probably benign |
Het |
| Nfu1 |
T |
A |
6: 87,016,432 (GRCm38) |
|
probably benign |
Het |
| Nup153 |
A |
G |
13: 46,687,159 (GRCm38) |
V991A |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,330,879 (GRCm38) |
H960Q |
probably benign |
Het |
| Parp4 |
G |
T |
14: 56,616,443 (GRCm38) |
E839* |
probably null |
Het |
| Pfas |
T |
C |
11: 68,991,082 (GRCm38) |
N30D |
|
Het |
| Pitpnc1 |
T |
A |
11: 107,212,605 (GRCm38) |
N223Y |
probably damaging |
Het |
| Plod1 |
C |
T |
4: 147,913,321 (GRCm38) |
V644I |
probably damaging |
Het |
| Pou2f1 |
T |
C |
1: 165,880,470 (GRCm38) |
T548A |
unknown |
Het |
| Psg20 |
A |
T |
7: 18,682,659 (GRCm38) |
N177K |
possibly damaging |
Het |
| Psmb8 |
T |
A |
17: 34,200,251 (GRCm38) |
I173N |
probably damaging |
Het |
| Rimkla |
G |
A |
4: 119,468,076 (GRCm38) |
Q379* |
probably null |
Het |
| Rnasel |
G |
T |
1: 153,753,915 (GRCm38) |
G59V |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,395,843 (GRCm38) |
D161V |
probably damaging |
Het |
| Scrt1 |
C |
A |
15: 76,519,211 (GRCm38) |
C193F |
unknown |
Het |
| Sdk2 |
G |
T |
11: 113,873,152 (GRCm38) |
Y269* |
probably null |
Het |
| Sfxn2 |
G |
C |
19: 46,585,804 (GRCm38) |
|
probably benign |
Het |
| Slc17a4 |
G |
T |
13: 23,903,262 (GRCm38) |
T264K |
probably benign |
Het |
| Slfn8 |
T |
A |
11: 83,016,813 (GRCm38) |
Q301H |
possibly damaging |
Het |
| Sntb1 |
G |
A |
15: 55,792,127 (GRCm38) |
S231F |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,967,190 (GRCm38) |
S137T |
probably benign |
Het |
| Srd5a2 |
A |
T |
17: 74,047,634 (GRCm38) |
V65E |
possibly damaging |
Het |
| Stk11ip |
A |
G |
1: 75,535,256 (GRCm38) |
H967R |
probably benign |
Het |
| Sun1 |
A |
G |
5: 139,231,165 (GRCm38) |
T320A |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,206,043 (GRCm38) |
S112P |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,692,963 (GRCm38) |
L15P |
probably benign |
Het |
| Tas2r140 |
T |
A |
6: 133,055,363 (GRCm38) |
N144I |
probably damaging |
Het |
| Thpo |
T |
A |
16: 20,725,957 (GRCm38) |
R174S |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,594,053 (GRCm38) |
Q418L |
unknown |
Het |
| Tnr |
A |
T |
1: 159,858,312 (GRCm38) |
Q371L |
probably benign |
Het |
| Tulp2 |
G |
A |
7: 45,520,974 (GRCm38) |
R439Q |
probably damaging |
Het |
| Uchl4 |
G |
T |
9: 64,235,324 (GRCm38) |
W29L |
probably damaging |
Het |
| Vrk3 |
T |
A |
7: 44,757,846 (GRCm38) |
C80* |
probably null |
Het |
| Washc4 |
T |
C |
10: 83,572,151 (GRCm38) |
L540P |
probably damaging |
Het |
| Wscd1 |
T |
C |
11: 71,784,335 (GRCm38) |
F356S |
probably damaging |
Het |
| Wwc1 |
A |
T |
11: 35,883,317 (GRCm38) |
M372K |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,074,734 (GRCm38) |
F168L |
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,390,400 (GRCm38) |
D175G |
probably damaging |
Het |
|
| Other mutations in Cadps2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Cadps2
|
APN |
6 |
23,496,874 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL01105:Cadps2
|
APN |
6 |
23,321,700 (GRCm38) |
splice site |
probably benign |
|
|
IGL01317:Cadps2
|
APN |
6 |
23,314,173 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL01409:Cadps2
|
APN |
6 |
23,587,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01477:Cadps2
|
APN |
6 |
23,263,673 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01620:Cadps2
|
APN |
6 |
23,587,462 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL01674:Cadps2
|
APN |
6 |
23,355,852 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01675:Cadps2
|
APN |
6 |
23,382,905 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01895:Cadps2
|
APN |
6 |
23,427,275 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02095:Cadps2
|
APN |
6 |
23,427,310 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02200:Cadps2
|
APN |
6 |
23,385,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02380:Cadps2
|
APN |
6 |
23,287,732 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL02680:Cadps2
|
APN |
6 |
23,838,896 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02814:Cadps2
|
APN |
6 |
23,321,707 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02940:Cadps2
|
APN |
6 |
23,496,809 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL03061:Cadps2
|
APN |
6 |
23,287,660 (GRCm38) |
splice site |
probably null |
|
|
IGL03233:Cadps2
|
APN |
6 |
23,263,601 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0193:Cadps2
|
UTSW |
6 |
23,599,440 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0389:Cadps2
|
UTSW |
6 |
23,321,782 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0571:Cadps2
|
UTSW |
6 |
23,583,412 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0595:Cadps2
|
UTSW |
6 |
23,321,704 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0620:Cadps2
|
UTSW |
6 |
23,583,396 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0723:Cadps2
|
UTSW |
6 |
23,287,698 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0831:Cadps2
|
UTSW |
6 |
23,321,740 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0836:Cadps2
|
UTSW |
6 |
23,328,776 (GRCm38) |
splice site |
probably benign |
|
|
R0942:Cadps2
|
UTSW |
6 |
23,263,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1099:Cadps2
|
UTSW |
6 |
23,599,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1120:Cadps2
|
UTSW |
6 |
23,838,794 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1216:Cadps2
|
UTSW |
6 |
23,583,473 (GRCm38) |
splice site |
probably benign |
|
|
R1575:Cadps2
|
UTSW |
6 |
23,429,218 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1780:Cadps2
|
UTSW |
6 |
23,320,932 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1924:Cadps2
|
UTSW |
6 |
23,688,858 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1944:Cadps2
|
UTSW |
6 |
23,599,480 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1956:Cadps2
|
UTSW |
6 |
23,287,686 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1986:Cadps2
|
UTSW |
6 |
23,323,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2045:Cadps2
|
UTSW |
6 |
23,839,122 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R2146:Cadps2
|
UTSW |
6 |
23,838,999 (GRCm38) |
intron |
probably benign |
|
|
R2147:Cadps2
|
UTSW |
6 |
23,838,999 (GRCm38) |
intron |
probably benign |
|
|
R2148:Cadps2
|
UTSW |
6 |
23,838,999 (GRCm38) |
intron |
probably benign |
|
|
R2150:Cadps2
|
UTSW |
6 |
23,838,999 (GRCm38) |
intron |
probably benign |
|
|
R2219:Cadps2
|
UTSW |
6 |
23,410,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2264:Cadps2
|
UTSW |
6 |
23,323,340 (GRCm38) |
missense |
probably benign |
0.15 |
|
R2338:Cadps2
|
UTSW |
6 |
23,838,978 (GRCm38) |
splice site |
probably benign |
|
|
R3861:Cadps2
|
UTSW |
6 |
23,355,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3898:Cadps2
|
UTSW |
6 |
23,528,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3982:Cadps2
|
UTSW |
6 |
23,263,531 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4213:Cadps2
|
UTSW |
6 |
23,599,463 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4384:Cadps2
|
UTSW |
6 |
23,412,988 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4432:Cadps2
|
UTSW |
6 |
23,626,738 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4609:Cadps2
|
UTSW |
6 |
23,587,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4806:Cadps2
|
UTSW |
6 |
23,688,860 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4977:Cadps2
|
UTSW |
6 |
23,599,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5174:Cadps2
|
UTSW |
6 |
23,287,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5267:Cadps2
|
UTSW |
6 |
23,626,668 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5389:Cadps2
|
UTSW |
6 |
23,329,104 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5737:Cadps2
|
UTSW |
6 |
23,328,805 (GRCm38) |
missense |
probably benign |
0.28 |
|
R6074:Cadps2
|
UTSW |
6 |
23,626,671 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6254:Cadps2
|
UTSW |
6 |
23,329,163 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6323:Cadps2
|
UTSW |
6 |
23,263,578 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6463:Cadps2
|
UTSW |
6 |
23,323,334 (GRCm38) |
nonsense |
probably null |
|
|
R6907:Cadps2
|
UTSW |
6 |
23,599,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6940:Cadps2
|
UTSW |
6 |
23,302,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6964:Cadps2
|
UTSW |
6 |
23,583,459 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7079:Cadps2
|
UTSW |
6 |
23,323,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7139:Cadps2
|
UTSW |
6 |
23,410,889 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7156:Cadps2
|
UTSW |
6 |
23,688,956 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7184:Cadps2
|
UTSW |
6 |
23,583,429 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7325:Cadps2
|
UTSW |
6 |
23,409,935 (GRCm38) |
missense |
unknown |
|
|
R7526:Cadps2
|
UTSW |
6 |
23,496,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7546:Cadps2
|
UTSW |
6 |
23,626,608 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7772:Cadps2
|
UTSW |
6 |
23,390,446 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7870:Cadps2
|
UTSW |
6 |
23,263,642 (GRCm38) |
missense |
probably benign |
0.14 |
|
R8040:Cadps2
|
UTSW |
6 |
23,412,943 (GRCm38) |
splice site |
probably benign |
|
|
R8048:Cadps2
|
UTSW |
6 |
23,838,863 (GRCm38) |
missense |
probably benign |
0.14 |
|
R8082:Cadps2
|
UTSW |
6 |
23,323,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8100:Cadps2
|
UTSW |
6 |
23,838,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8115:Cadps2
|
UTSW |
6 |
23,328,898 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8497:Cadps2
|
UTSW |
6 |
23,355,919 (GRCm38) |
missense |
probably benign |
0.27 |
|
R8768:Cadps2
|
UTSW |
6 |
23,382,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8783:Cadps2
|
UTSW |
6 |
23,302,304 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R8832:Cadps2
|
UTSW |
6 |
23,587,537 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8848:Cadps2
|
UTSW |
6 |
23,344,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8854:Cadps2
|
UTSW |
6 |
23,385,508 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8896:Cadps2
|
UTSW |
6 |
23,410,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8910:Cadps2
|
UTSW |
6 |
23,344,224 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8921:Cadps2
|
UTSW |
6 |
23,302,301 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9228:Cadps2
|
UTSW |
6 |
23,688,928 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9297:Cadps2
|
UTSW |
6 |
23,496,888 (GRCm38) |
missense |
probably benign |
|
|
R9318:Cadps2
|
UTSW |
6 |
23,496,888 (GRCm38) |
missense |
probably benign |
|
|
R9348:Cadps2
|
UTSW |
6 |
23,344,263 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9447:Cadps2
|
UTSW |
6 |
23,323,298 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9484:Cadps2
|
UTSW |
6 |
23,626,647 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9492:Cadps2
|
UTSW |
6 |
23,427,239 (GRCm38) |
missense |
probably benign |
|
|
R9630:Cadps2
|
UTSW |
6 |
23,587,572 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9729:Cadps2
|
UTSW |
6 |
23,382,983 (GRCm38) |
missense |
probably benign |
0.28 |
|
Z1176:Cadps2
|
UTSW |
6 |
23,321,801 (GRCm38) |
missense |
probably benign |
0.24 |
|
Z1177:Cadps2
|
UTSW |
6 |
23,838,818 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Cadps2
|
UTSW |
6 |
23,626,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Cadps2
|
UTSW |
6 |
23,385,478 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACATAAGCAACTTACTTAGGTC -3'
(R):5'- ATGGAAAATCCGCCTGCTATG -3'
Sequencing Primer
(F):5'- GTTTGTTTGTTTGTTTGTTTGTTGAG -3'
(R):5'- CACACTTGGGCATAAATACCTTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation