Incidental Mutation 'R2264:Cadps2'
| ID |
243987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cadps2
|
| Ensembl Gene |
ENSMUSG00000017978 |
| Gene Name |
Ca2+-dependent activator protein for secretion 2 |
| Synonyms |
Caps2, A230044C21Rik, cpd2 |
| MMRRC Submission |
040264-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2264 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
23262772-23839420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23323339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1043
(H1043R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018122]
[ENSMUST00000069074]
[ENSMUST00000115358]
[ENSMUST00000115361]
[ENSMUST00000125350]
[ENSMUST00000142913]
[ENSMUST00000163871]
[ENSMUST00000166458]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018122
AA Change: H1043R
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000018122
Gene: ENSMUSG00000017978
AA Change: H1043R
| 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 benign
Transcript: ENSMUST00000069074
AA Change: H1036R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000064876
Gene: ENSMUSG00000017978
AA Change: H1036R
| 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 benign
Transcript: ENSMUST00000115358
AA Change: H1003R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111015
Gene: ENSMUSG00000017978
AA Change: H1003R
| 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 benign
Transcript: ENSMUST00000115361
AA Change: H993R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111018
Gene: ENSMUSG00000017978
AA Change: H993R
| 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 benign
Transcript: ENSMUST00000125350
AA Change: H638R
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000115866
Gene: ENSMUSG00000017978
AA Change: H638R
| 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 benign
Transcript: ENSMUST00000142913
AA Change: H1014R
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000138167
Gene: ENSMUSG00000017978
AA Change: H1014R
| 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 |
noncoding transcript
Transcript: ENSMUST00000156986
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163871
AA Change: H1043R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128905
Gene: ENSMUSG00000017978
AA Change: H1043R
| 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 benign
Transcript: ENSMUST00000166458
AA Change: H1014R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125972
Gene: ENSMUSG00000017978
AA Change: H1014R
| 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 |
|
| Meta Mutation Damage Score |
0.0598 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
94% (65/69) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,901,100 (GRCm39) |
S1042P |
probably damaging |
Het |
| Armc1 |
C |
T |
3: 19,189,033 (GRCm39) |
V211I |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,180,771 (GRCm39) |
*986W |
probably null |
Het |
| BC024139 |
T |
A |
15: 76,010,117 (GRCm39) |
D105V |
probably damaging |
Het |
| BC049715 |
C |
T |
6: 136,817,434 (GRCm39) |
Q225* |
probably null |
Het |
| Ccdc42 |
T |
C |
11: 68,478,477 (GRCm39) |
V33A |
probably benign |
Het |
| Cldn1 |
A |
G |
16: 26,177,949 (GRCm39) |
Y159H |
probably damaging |
Het |
| Cog6 |
A |
T |
3: 52,900,332 (GRCm39) |
C476* |
probably null |
Het |
| Col14a1 |
T |
G |
15: 55,330,086 (GRCm39) |
|
probably null |
Het |
| Crisp1 |
C |
T |
17: 40,623,965 (GRCm39) |
M1I |
probably null |
Het |
| Dip2b |
T |
A |
15: 100,101,097 (GRCm39) |
S1297T |
probably benign |
Het |
| Dlgap4 |
A |
G |
2: 156,543,383 (GRCm39) |
E262G |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,154,155 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
A |
C |
2: 62,208,583 (GRCm39) |
V187G |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,021,971 (GRCm39) |
D1482G |
probably benign |
Het |
| Fads6 |
T |
A |
11: 115,177,061 (GRCm39) |
T132S |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,944,571 (GRCm39) |
I1155V |
probably benign |
Het |
| Fermt1 |
C |
T |
2: 132,757,110 (GRCm39) |
|
probably null |
Het |
| Fstl1 |
C |
T |
16: 37,597,653 (GRCm39) |
|
probably benign |
Het |
| Get3 |
G |
A |
8: 85,751,887 (GRCm39) |
|
probably benign |
Het |
| Gm5089 |
T |
C |
14: 122,673,514 (GRCm39) |
Y69C |
unknown |
Het |
| Gm9871 |
T |
C |
6: 101,773,201 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr89 |
A |
G |
3: 96,779,831 (GRCm39) |
S375P |
probably damaging |
Het |
| Gtf2h4 |
A |
G |
17: 35,979,556 (GRCm39) |
|
probably benign |
Het |
| Gtsf1 |
T |
A |
15: 103,328,391 (GRCm39) |
N148I |
possibly damaging |
Het |
| Hexa |
T |
C |
9: 59,462,660 (GRCm39) |
S129P |
probably damaging |
Het |
| Iigp1 |
A |
T |
18: 60,523,738 (GRCm39) |
E285D |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,403,651 (GRCm39) |
|
probably null |
Het |
| Iqch |
T |
C |
9: 63,419,581 (GRCm39) |
K463R |
probably benign |
Het |
| Kcnd1 |
A |
G |
X: 7,690,323 (GRCm39) |
|
probably null |
Het |
| Kif26b |
A |
T |
1: 178,756,407 (GRCm39) |
|
probably null |
Het |
| Loxl1 |
A |
G |
9: 58,204,961 (GRCm39) |
V418A |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,312,710 (GRCm39) |
D2526G |
possibly damaging |
Het |
| Map4 |
G |
T |
9: 109,910,525 (GRCm39) |
G851C |
probably damaging |
Het |
| Mtmr11 |
A |
T |
3: 96,076,413 (GRCm39) |
E456V |
possibly damaging |
Het |
| Muc13 |
G |
A |
16: 33,628,409 (GRCm39) |
|
probably null |
Het |
| Myo18a |
C |
A |
11: 77,710,798 (GRCm39) |
|
probably benign |
Het |
| Nphp4 |
T |
A |
4: 152,587,465 (GRCm39) |
|
probably benign |
Het |
| Nrg3 |
T |
C |
14: 38,103,659 (GRCm39) |
E445G |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,686,941 (GRCm39) |
|
probably null |
Het |
| Or8b1 |
G |
T |
9: 38,399,351 (GRCm39) |
V9L |
possibly damaging |
Het |
| Parp6 |
T |
C |
9: 59,531,288 (GRCm39) |
S57P |
probably damaging |
Het |
| Pcdhb12 |
A |
G |
18: 37,569,858 (GRCm39) |
N335D |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,195,162 (GRCm39) |
|
probably null |
Het |
| Pea15a |
C |
T |
1: 172,026,704 (GRCm39) |
R79H |
probably benign |
Het |
| Pik3ca |
A |
C |
3: 32,492,076 (GRCm39) |
I225L |
possibly damaging |
Het |
| Pim3 |
T |
A |
15: 88,748,793 (GRCm39) |
I270N |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,829,112 (GRCm39) |
R1043S |
probably damaging |
Het |
| Plekhg6 |
A |
G |
6: 125,354,431 (GRCm39) |
S70P |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,637,527 (GRCm39) |
D138E |
possibly damaging |
Het |
| Rap1gap |
T |
C |
4: 137,455,034 (GRCm39) |
L354P |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sf3a1 |
T |
A |
11: 4,127,443 (GRCm39) |
S590T |
probably benign |
Het |
| Slc14a2 |
T |
C |
18: 78,206,304 (GRCm39) |
|
probably benign |
Het |
| Slfn3 |
T |
G |
11: 83,103,798 (GRCm39) |
I223S |
probably benign |
Het |
| Smarca1 |
C |
T |
X: 46,964,160 (GRCm39) |
V331I |
probably benign |
Het |
| Soat1 |
A |
G |
1: 156,265,267 (GRCm39) |
|
probably benign |
Het |
| Tinagl1 |
A |
G |
4: 130,061,226 (GRCm39) |
V308A |
probably benign |
Het |
| Tomm22 |
T |
A |
15: 79,555,488 (GRCm39) |
Y78N |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,380,609 (GRCm39) |
Y252C |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,623,474 (GRCm39) |
V15368I |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,147,684 (GRCm39) |
|
probably benign |
Het |
| Wbp2 |
T |
C |
11: 115,970,424 (GRCm39) |
|
probably null |
Het |
| Xkr7 |
A |
T |
2: 152,896,177 (GRCm39) |
I344F |
probably damaging |
Het |
| Zfp947 |
A |
T |
17: 22,364,919 (GRCm39) |
C252S |
probably benign |
Het |
|
| Other mutations in Cadps2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Cadps2
|
APN |
6 |
23,496,873 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01105:Cadps2
|
APN |
6 |
23,321,699 (GRCm39) |
splice site |
probably benign |
|
|
IGL01317:Cadps2
|
APN |
6 |
23,314,172 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01409:Cadps2
|
APN |
6 |
23,587,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01477:Cadps2
|
APN |
6 |
23,263,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01620:Cadps2
|
APN |
6 |
23,587,461 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01674:Cadps2
|
APN |
6 |
23,355,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01675:Cadps2
|
APN |
6 |
23,382,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01895:Cadps2
|
APN |
6 |
23,427,274 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02095:Cadps2
|
APN |
6 |
23,427,309 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02200:Cadps2
|
APN |
6 |
23,385,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02380:Cadps2
|
APN |
6 |
23,287,731 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02680:Cadps2
|
APN |
6 |
23,838,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02814:Cadps2
|
APN |
6 |
23,321,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02940:Cadps2
|
APN |
6 |
23,496,808 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03061:Cadps2
|
APN |
6 |
23,287,659 (GRCm39) |
splice site |
probably null |
|
|
IGL03233:Cadps2
|
APN |
6 |
23,263,600 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0193:Cadps2
|
UTSW |
6 |
23,599,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0389:Cadps2
|
UTSW |
6 |
23,321,781 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0571:Cadps2
|
UTSW |
6 |
23,583,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0595:Cadps2
|
UTSW |
6 |
23,321,703 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0620:Cadps2
|
UTSW |
6 |
23,583,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Cadps2
|
UTSW |
6 |
23,287,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0831:Cadps2
|
UTSW |
6 |
23,321,739 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0836:Cadps2
|
UTSW |
6 |
23,328,775 (GRCm39) |
splice site |
probably benign |
|
|
R0942:Cadps2
|
UTSW |
6 |
23,263,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1099:Cadps2
|
UTSW |
6 |
23,599,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1120:Cadps2
|
UTSW |
6 |
23,838,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1216:Cadps2
|
UTSW |
6 |
23,583,472 (GRCm39) |
splice site |
probably benign |
|
|
R1575:Cadps2
|
UTSW |
6 |
23,429,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1780:Cadps2
|
UTSW |
6 |
23,320,931 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1924:Cadps2
|
UTSW |
6 |
23,688,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1944:Cadps2
|
UTSW |
6 |
23,599,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1956:Cadps2
|
UTSW |
6 |
23,287,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:Cadps2
|
UTSW |
6 |
23,323,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Cadps2
|
UTSW |
6 |
23,839,121 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2146:Cadps2
|
UTSW |
6 |
23,838,998 (GRCm39) |
intron |
probably benign |
|
|
R2147:Cadps2
|
UTSW |
6 |
23,838,998 (GRCm39) |
intron |
probably benign |
|
|
R2148:Cadps2
|
UTSW |
6 |
23,838,998 (GRCm39) |
intron |
probably benign |
|
|
R2150:Cadps2
|
UTSW |
6 |
23,838,998 (GRCm39) |
intron |
probably benign |
|
|
R2219:Cadps2
|
UTSW |
6 |
23,410,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2338:Cadps2
|
UTSW |
6 |
23,838,977 (GRCm39) |
splice site |
probably benign |
|
|
R3861:Cadps2
|
UTSW |
6 |
23,355,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3898:Cadps2
|
UTSW |
6 |
23,528,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3982:Cadps2
|
UTSW |
6 |
23,263,530 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4213:Cadps2
|
UTSW |
6 |
23,599,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Cadps2
|
UTSW |
6 |
23,412,987 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4432:Cadps2
|
UTSW |
6 |
23,626,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4609:Cadps2
|
UTSW |
6 |
23,587,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4806:Cadps2
|
UTSW |
6 |
23,688,859 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4977:Cadps2
|
UTSW |
6 |
23,599,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5174:Cadps2
|
UTSW |
6 |
23,287,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Cadps2
|
UTSW |
6 |
23,626,667 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5389:Cadps2
|
UTSW |
6 |
23,329,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5737:Cadps2
|
UTSW |
6 |
23,328,804 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6074:Cadps2
|
UTSW |
6 |
23,626,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6254:Cadps2
|
UTSW |
6 |
23,329,162 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6323:Cadps2
|
UTSW |
6 |
23,263,577 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6463:Cadps2
|
UTSW |
6 |
23,323,333 (GRCm39) |
nonsense |
probably null |
|
|
R6907:Cadps2
|
UTSW |
6 |
23,599,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6940:Cadps2
|
UTSW |
6 |
23,302,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6964:Cadps2
|
UTSW |
6 |
23,583,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7079:Cadps2
|
UTSW |
6 |
23,323,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7139:Cadps2
|
UTSW |
6 |
23,410,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:Cadps2
|
UTSW |
6 |
23,688,955 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7184:Cadps2
|
UTSW |
6 |
23,583,428 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7325:Cadps2
|
UTSW |
6 |
23,409,934 (GRCm39) |
missense |
unknown |
|
|
R7526:Cadps2
|
UTSW |
6 |
23,496,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7546:Cadps2
|
UTSW |
6 |
23,626,607 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7772:Cadps2
|
UTSW |
6 |
23,390,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7870:Cadps2
|
UTSW |
6 |
23,263,641 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8040:Cadps2
|
UTSW |
6 |
23,412,942 (GRCm39) |
splice site |
probably benign |
|
|
R8048:Cadps2
|
UTSW |
6 |
23,838,862 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8082:Cadps2
|
UTSW |
6 |
23,323,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8100:Cadps2
|
UTSW |
6 |
23,838,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Cadps2
|
UTSW |
6 |
23,328,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8497:Cadps2
|
UTSW |
6 |
23,355,918 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8768:Cadps2
|
UTSW |
6 |
23,382,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Cadps2
|
UTSW |
6 |
23,302,303 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8804:Cadps2
|
UTSW |
6 |
23,496,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8832:Cadps2
|
UTSW |
6 |
23,587,536 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8848:Cadps2
|
UTSW |
6 |
23,344,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8854:Cadps2
|
UTSW |
6 |
23,385,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Cadps2
|
UTSW |
6 |
23,410,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Cadps2
|
UTSW |
6 |
23,344,223 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8921:Cadps2
|
UTSW |
6 |
23,302,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9228:Cadps2
|
UTSW |
6 |
23,688,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9297:Cadps2
|
UTSW |
6 |
23,496,887 (GRCm39) |
missense |
probably benign |
|
|
R9318:Cadps2
|
UTSW |
6 |
23,496,887 (GRCm39) |
missense |
probably benign |
|
|
R9348:Cadps2
|
UTSW |
6 |
23,344,262 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9447:Cadps2
|
UTSW |
6 |
23,323,297 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9484:Cadps2
|
UTSW |
6 |
23,626,646 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9492:Cadps2
|
UTSW |
6 |
23,427,238 (GRCm39) |
missense |
probably benign |
|
|
R9630:Cadps2
|
UTSW |
6 |
23,587,571 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9729:Cadps2
|
UTSW |
6 |
23,382,982 (GRCm39) |
missense |
probably benign |
0.28 |
|
Z1176:Cadps2
|
UTSW |
6 |
23,321,800 (GRCm39) |
missense |
probably benign |
0.24 |
|
Z1177:Cadps2
|
UTSW |
6 |
23,838,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cadps2
|
UTSW |
6 |
23,626,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cadps2
|
UTSW |
6 |
23,385,477 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATTCCATGGTTCCCCAGG -3'
(R):5'- CATTATCACAGAAGGAAAACCAGTG -3'
Sequencing Primer
(F):5'- ATTCCATGGTTCCCCAGGATTAAGG -3'
(R):5'- GGATGGATGTGTGTGGCCC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation