Incidental Mutation 'R4741:Doc2a'
| ID |
500059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Doc2a
|
| Ensembl Gene |
ENSMUSG00000052301 |
| Gene Name |
double C2, alpha |
| Synonyms |
|
| MMRRC Submission |
042026-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R4741 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126446588-126451877 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126450617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 298
(T298S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050833]
[ENSMUST00000064110]
[ENSMUST00000106342]
[ENSMUST00000106343]
[ENSMUST00000137873]
[ENSMUST00000139174]
[ENSMUST00000205938]
[ENSMUST00000152051]
[ENSMUST00000141805]
[ENSMUST00000206349]
[ENSMUST00000147257]
[ENSMUST00000206968]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000064110
AA Change: T298S
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070119
Gene: ENSMUSG00000052301
AA Change: T298S
| 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 benign
Transcript: ENSMUST00000176771
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152406
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205938
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152051
|
| SMART Domains |
Protein: ENSMUSP00000123483
Gene: ENSMUSG00000052301
| 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 |
noncoding transcript
Transcript: ENSMUST00000154881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206090
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205958
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206349
|
| 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: ENSMUST00000205619
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206968
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| 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 |
|---|
| Angptl2 |
T |
C |
2: 33,136,200 (GRCm39) |
Y462H |
probably benign |
Het |
| Arhgef12 |
A |
G |
9: 42,883,449 (GRCm39) |
I1360T |
possibly damaging |
Het |
| Armc10 |
T |
G |
5: 21,856,834 (GRCm39) |
L111R |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,364,907 (GRCm39) |
K2628E |
probably benign |
Het |
| Best3 |
A |
T |
10: 116,859,901 (GRCm39) |
N387I |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,996,524 (GRCm39) |
T1079A |
probably damaging |
Het |
| Brpf3 |
T |
C |
17: 29,036,758 (GRCm39) |
F721S |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,590,271 (GRCm39) |
S1411P |
probably damaging |
Het |
| Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
| Clip2 |
T |
A |
5: 134,545,123 (GRCm39) |
T344S |
probably benign |
Het |
| Csmd1 |
A |
C |
8: 15,960,447 (GRCm39) |
W3323G |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,512,286 (GRCm39) |
N234S |
probably benign |
Het |
| Dtx2 |
C |
T |
5: 136,055,371 (GRCm39) |
R353C |
probably benign |
Het |
| Epm2aip1 |
A |
G |
9: 111,101,681 (GRCm39) |
H218R |
probably benign |
Het |
| F2rl1 |
G |
A |
13: 95,650,651 (GRCm39) |
T77M |
probably damaging |
Het |
| Fsd2 |
A |
G |
7: 81,201,643 (GRCm39) |
|
probably null |
Het |
| Grin2a |
T |
C |
16: 9,481,376 (GRCm39) |
Y475C |
probably damaging |
Het |
| H2-Ob |
T |
A |
17: 34,461,545 (GRCm39) |
S95T |
possibly damaging |
Het |
| Hddc3 |
A |
G |
7: 79,995,464 (GRCm39) |
T160A |
probably benign |
Het |
| Hp |
A |
T |
8: 110,302,104 (GRCm39) |
C281* |
probably null |
Het |
| Ighg1 |
T |
C |
12: 113,290,178 (GRCm39) |
|
probably benign |
Het |
| Ints7 |
A |
G |
1: 191,351,747 (GRCm39) |
I819V |
probably benign |
Het |
| Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,060,718 (GRCm39) |
I737V |
possibly damaging |
Het |
| Krt74 |
C |
T |
15: 101,669,876 (GRCm39) |
|
noncoding transcript |
Het |
| Lnpep |
T |
C |
17: 17,791,920 (GRCm39) |
Y407C |
probably damaging |
Het |
| Lrp4 |
T |
G |
2: 91,341,912 (GRCm39) |
C1842G |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,056,572 (GRCm39) |
N1172K |
probably benign |
Het |
| Npy6r |
A |
T |
18: 44,408,791 (GRCm39) |
T71S |
probably damaging |
Het |
| Nsd3 |
A |
T |
8: 26,163,382 (GRCm39) |
I591F |
probably damaging |
Het |
| Oog2 |
A |
C |
4: 143,921,715 (GRCm39) |
E208D |
possibly damaging |
Het |
| Otogl |
A |
G |
10: 107,615,121 (GRCm39) |
I1928T |
probably benign |
Het |
| Papss1 |
T |
C |
3: 131,324,860 (GRCm39) |
L418P |
probably damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,571 (GRCm39) |
D316E |
probably benign |
Het |
| Pcdhgb2 |
T |
A |
18: 37,824,737 (GRCm39) |
|
probably null |
Het |
| Ptcd3 |
T |
A |
6: 71,879,933 (GRCm39) |
L108F |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,226,599 (GRCm39) |
S31G |
probably benign |
Het |
| Rnf225 |
A |
T |
7: 12,661,857 (GRCm39) |
H12L |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,633,613 (GRCm39) |
M2047L |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Serpinb3b |
G |
T |
1: 107,082,200 (GRCm39) |
Q355K |
probably benign |
Het |
| Slc8a2 |
T |
A |
7: 15,868,233 (GRCm39) |
F155Y |
probably damaging |
Het |
| Taf1c |
A |
G |
8: 120,330,134 (GRCm39) |
|
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,293,837 (GRCm39) |
|
probably null |
Het |
| Tmpo |
A |
G |
10: 90,998,506 (GRCm39) |
V427A |
probably benign |
Het |
| Vmn1r17 |
A |
T |
6: 57,338,337 (GRCm39) |
Y9* |
probably null |
Het |
| Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfand5 |
C |
T |
19: 21,253,845 (GRCm39) |
T16I |
probably damaging |
Het |
| Zfp352 |
A |
T |
4: 90,113,177 (GRCm39) |
K439M |
possibly damaging |
Het |
| Zfp786 |
G |
A |
6: 47,797,625 (GRCm39) |
H438Y |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,319,763 (GRCm39) |
C331S |
probably damaging |
Het |
|
| Other mutations in Doc2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Doc2a
|
APN |
7 |
126,450,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTGTAGACTCACCTCTG -3'
(R):5'- TTCTGTGAGGCCTAACCACATC -3'
Sequencing Primer
(F):5'- GTAGACTCACCTCTGCCCCC -3'
(R):5'- GGCCTAACCACATCGCTGTC -3'
|
| Posted On |
2017-11-30 |
Incidental Mutation