Incidental Mutation 'IGL01287:Doc2a'
| ID |
72768 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Doc2a
|
| Ensembl Gene |
ENSMUSG00000052301 |
| Gene Name |
double C2, alpha |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
IGL01287
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126446588-126451877 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126450173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 204
(R204C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050833]
[ENSMUST00000064110]
[ENSMUST00000106342]
[ENSMUST00000106343]
[ENSMUST00000137873]
[ENSMUST00000139174]
[ENSMUST00000152051]
[ENSMUST00000206968]
[ENSMUST00000206349]
[ENSMUST00000205938]
[ENSMUST00000147257]
[ENSMUST00000141805]
|
| AlphaFold |
Q7TNF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050833
|
| SMART Domains |
Protein: ENSMUSP00000049851
Gene: ENSMUSG00000030689
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064110
AA Change: R204C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070119
Gene: ENSMUSG00000052301
AA Change: R204C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C2
|
8 |
37 |
2e-10 |
BLAST |
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
78 |
N/A |
INTRINSIC |
|
C2
|
110 |
215 |
1.68e-22 |
SMART |
|
low complexity region
|
223 |
234 |
N/A |
INTRINSIC |
|
C2
|
272 |
386 |
2.44e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106342
|
| SMART Domains |
Protein: ENSMUSP00000101949
Gene: ENSMUSG00000030689
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106343
|
| SMART Domains |
Protein: ENSMUSP00000101950
Gene: ENSMUSG00000030689
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
10 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
238 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125624
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137873
|
| SMART Domains |
Protein: ENSMUSP00000119779
Gene: ENSMUSG00000052301
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C2
|
8 |
37 |
1e-11 |
BLAST |
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
78 |
N/A |
INTRINSIC |
|
C2
|
110 |
175 |
1.44e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139174
|
| SMART Domains |
Protein: ENSMUSP00000117376
Gene: ENSMUSG00000052301
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C2
|
8 |
37 |
2e-12 |
BLAST |
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
78 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152051
AA Change: R204C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123483
Gene: ENSMUSG00000052301
AA Change: R204C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C2
|
8 |
37 |
6e-11 |
BLAST |
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
78 |
N/A |
INTRINSIC |
|
C2
|
110 |
215 |
1.68e-22 |
SMART |
|
low complexity region
|
223 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176771
AA Change: R133C
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205493
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205619
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206349
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205958
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205938
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206090
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147257
|
| SMART Domains |
Protein: ENSMUSP00000123143
Gene: ENSMUSG00000052301
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C2
|
8 |
37 |
2e-12 |
BLAST |
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
78 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141805
|
| SMART Domains |
Protein: ENSMUSP00000118143
Gene: ENSMUSG00000052301
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C2
|
8 |
37 |
5e-12 |
BLAST |
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
78 |
N/A |
INTRINSIC |
|
SCOP:d1rsy__
|
81 |
134 |
1e-10 |
SMART |
|
PDB:4MJJ|A
|
86 |
134 |
6e-26 |
PDB |
|
Blast:C2
|
110 |
134 |
5e-10 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous inactivation of this locus affects excitatory synaptic transmission, LTP, and learning/memory. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,040 (GRCm39) |
K445E |
probably damaging |
Het |
| Abca15 |
A |
T |
7: 119,932,081 (GRCm39) |
|
probably benign |
Het |
| Acsbg3 |
C |
T |
17: 57,189,203 (GRCm39) |
Q204* |
probably null |
Het |
| Acvr1c |
A |
T |
2: 58,170,254 (GRCm39) |
C371* |
probably null |
Het |
| Brs3 |
T |
C |
X: 56,092,727 (GRCm39) |
|
probably benign |
Het |
| Car14 |
C |
T |
3: 95,806,871 (GRCm39) |
V198M |
possibly damaging |
Het |
| Cenpc1 |
G |
A |
5: 86,170,313 (GRCm39) |
R704* |
probably null |
Het |
| Crybg1 |
C |
T |
10: 43,868,490 (GRCm39) |
R1396H |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,315,377 (GRCm39) |
S3019P |
probably damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,471,665 (GRCm39) |
E222G |
probably benign |
Het |
| Defb50 |
C |
A |
8: 22,321,187 (GRCm39) |
T59K |
probably benign |
Het |
| Dlg3 |
T |
C |
X: 99,850,848 (GRCm39) |
I587T |
possibly damaging |
Het |
| Galc |
T |
C |
12: 98,212,503 (GRCm39) |
|
probably benign |
Het |
| Gm8257 |
A |
T |
14: 44,892,800 (GRCm39) |
F67I |
probably damaging |
Het |
| Hnrnpul1 |
A |
T |
7: 25,426,323 (GRCm39) |
N509K |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,028,625 (GRCm39) |
I678F |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,533 (GRCm39) |
E223G |
possibly damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrp4 |
C |
A |
2: 91,304,293 (GRCm39) |
D157E |
probably damaging |
Het |
| Ltk |
T |
A |
2: 119,586,186 (GRCm39) |
T21S |
probably benign |
Het |
| Lvrn |
A |
T |
18: 46,997,733 (GRCm39) |
|
probably benign |
Het |
| Maob |
G |
A |
X: 16,578,881 (GRCm39) |
A424V |
probably damaging |
Het |
| Myo1g |
C |
A |
11: 6,465,856 (GRCm39) |
V410F |
possibly damaging |
Het |
| Myorg |
T |
A |
4: 41,498,923 (GRCm39) |
I236F |
possibly damaging |
Het |
| Naxe |
T |
C |
3: 87,963,981 (GRCm39) |
H250R |
probably damaging |
Het |
| Nek5 |
T |
C |
8: 22,601,199 (GRCm39) |
N174S |
possibly damaging |
Het |
| Or2y3 |
G |
T |
17: 38,392,998 (GRCm39) |
N290K |
probably damaging |
Het |
| Or51l14 |
C |
T |
7: 103,101,002 (GRCm39) |
R153W |
probably damaging |
Het |
| Or9m2 |
A |
G |
2: 87,821,288 (GRCm39) |
T278A |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,656,027 (GRCm39) |
T285A |
probably benign |
Het |
| Pfas |
A |
G |
11: 68,892,086 (GRCm39) |
S141P |
probably benign |
Het |
| Pmm1 |
T |
C |
15: 81,839,945 (GRCm39) |
T127A |
probably damaging |
Het |
| Proc |
C |
A |
18: 32,256,873 (GRCm39) |
|
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,633,980 (GRCm39) |
E142G |
probably damaging |
Het |
| Recql4 |
C |
A |
15: 76,594,112 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,324,336 (GRCm39) |
P955S |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,539,418 (GRCm39) |
N3274I |
probably damaging |
Het |
| Serpinb10 |
T |
C |
1: 107,468,612 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,404,811 (GRCm39) |
K848* |
probably null |
Het |
| Slfn5 |
A |
G |
11: 82,847,807 (GRCm39) |
T231A |
probably damaging |
Het |
| Syncrip |
T |
C |
9: 88,338,660 (GRCm39) |
|
probably benign |
Het |
| Syt16 |
A |
T |
12: 74,313,513 (GRCm39) |
T480S |
probably damaging |
Het |
| Taf1c |
G |
A |
8: 120,327,931 (GRCm39) |
T293M |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,120,826 (GRCm39) |
D430G |
possibly damaging |
Het |
| Tbx18 |
T |
C |
9: 87,606,384 (GRCm39) |
T254A |
probably damaging |
Het |
| Tpm1 |
C |
T |
9: 66,943,337 (GRCm39) |
R105H |
probably damaging |
Het |
| Usp17la |
T |
C |
7: 104,510,522 (GRCm39) |
S376P |
probably benign |
Het |
| Vmn1r19 |
A |
G |
6: 57,382,179 (GRCm39) |
D244G |
probably damaging |
Het |
| Vmn1r58 |
A |
T |
7: 5,414,054 (GRCm39) |
F59I |
probably benign |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,622 (GRCm39) |
M136K |
probably benign |
Het |
| Vmn2r70 |
T |
A |
7: 85,218,227 (GRCm39) |
R24* |
probably null |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,801 (GRCm39) |
I671F |
probably damaging |
Het |
|
| Other mutations in Doc2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0423:Doc2a
|
UTSW |
7 |
126,447,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Doc2a
|
UTSW |
7 |
126,447,983 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1922:Doc2a
|
UTSW |
7 |
126,450,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Doc2a
|
UTSW |
7 |
126,450,979 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2402:Doc2a
|
UTSW |
7 |
126,447,919 (GRCm39) |
nonsense |
probably null |
|
|
R4344:Doc2a
|
UTSW |
7 |
126,450,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4644:Doc2a
|
UTSW |
7 |
126,450,618 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4741:Doc2a
|
UTSW |
7 |
126,450,617 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4932:Doc2a
|
UTSW |
7 |
126,447,752 (GRCm39) |
unclassified |
probably benign |
|
|
R5926:Doc2a
|
UTSW |
7 |
126,448,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6646:Doc2a
|
UTSW |
7 |
126,450,791 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8058:Doc2a
|
UTSW |
7 |
126,450,164 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9269:Doc2a
|
UTSW |
7 |
126,450,159 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2013-10-07 |
Incidental Mutation