Incidental Mutation 'R5926:Doc2a'
ID |
459899 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Doc2a
|
Ensembl Gene |
ENSMUSG00000052301 |
Gene Name |
double C2, alpha |
Synonyms |
|
MMRRC Submission |
044121-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R5926 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
126446588-126451877 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126448697 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 134
(V134A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123483
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050833]
[ENSMUST00000064110]
[ENSMUST00000106342]
[ENSMUST00000106343]
[ENSMUST00000137873]
[ENSMUST00000152051]
[ENSMUST00000141805]
[ENSMUST00000205938]
[ENSMUST00000147257]
[ENSMUST00000139174]
[ENSMUST00000206349]
[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 |
probably damaging
Transcript: ENSMUST00000064110
AA Change: V134A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070119 Gene: ENSMUSG00000052301 AA Change: V134A
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 damaging
Transcript: ENSMUST00000137873
AA Change: V134A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119779 Gene: ENSMUSG00000052301 AA Change: V134A
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 |
unknown
Transcript: ENSMUST00000176771
AA Change: V63A
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000152051
AA Change: V134A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123483 Gene: ENSMUSG00000052301 AA Change: V134A
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 |
silent
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 |
probably benign
Transcript: ENSMUST00000205958
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152406
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153764
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205619
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206090
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205938
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205493
|
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: 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: ENSMUST00000206349
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206968
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
A |
6: 128,537,608 (GRCm39) |
Y701F |
probably benign |
Het |
Abra |
T |
A |
15: 41,729,650 (GRCm39) |
H250L |
probably damaging |
Het |
Acer2 |
T |
C |
4: 86,792,805 (GRCm39) |
V27A |
probably benign |
Het |
Arhgef15 |
A |
G |
11: 68,842,781 (GRCm39) |
L343S |
possibly damaging |
Het |
Arnt2 |
G |
T |
7: 83,993,154 (GRCm39) |
H129N |
probably damaging |
Het |
Atp9a |
T |
A |
2: 168,548,191 (GRCm39) |
Y63F |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,458,087 (GRCm39) |
T213A |
probably benign |
Het |
Cdk5r1 |
T |
C |
11: 80,369,128 (GRCm39) |
|
probably null |
Het |
Cyb5r4 |
C |
T |
9: 86,939,314 (GRCm39) |
L366F |
probably benign |
Het |
Cyp20a1 |
T |
A |
1: 60,402,401 (GRCm39) |
I162K |
possibly damaging |
Het |
Dcaf1 |
T |
C |
9: 106,715,561 (GRCm39) |
V226A |
probably benign |
Het |
Ddx41 |
A |
T |
13: 55,682,112 (GRCm39) |
M232K |
probably damaging |
Het |
Dnm1 |
C |
T |
2: 32,205,816 (GRCm39) |
V99I |
probably benign |
Het |
Ghdc |
C |
T |
11: 100,659,063 (GRCm39) |
V380M |
possibly damaging |
Het |
Gldn |
A |
G |
9: 54,245,722 (GRCm39) |
I424M |
possibly damaging |
Het |
Haus6 |
A |
T |
4: 86,517,553 (GRCm39) |
H270Q |
probably benign |
Het |
Hfe |
A |
T |
13: 23,892,247 (GRCm39) |
M39K |
probably damaging |
Het |
Jakmip1 |
C |
T |
5: 37,242,624 (GRCm39) |
|
probably benign |
Het |
Kcnb2 |
A |
G |
1: 15,383,235 (GRCm39) |
N187S |
probably benign |
Het |
Kcnd2 |
A |
G |
6: 21,217,084 (GRCm39) |
S263G |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 192,095,385 (GRCm39) |
N481S |
probably benign |
Het |
Kcnn2 |
A |
G |
18: 45,818,351 (GRCm39) |
I343V |
probably benign |
Het |
L3hypdh |
T |
A |
12: 72,123,959 (GRCm39) |
S300C |
probably damaging |
Het |
Lrit1 |
T |
A |
14: 36,776,966 (GRCm39) |
C29S |
probably damaging |
Het |
Mark3 |
T |
A |
12: 111,559,168 (GRCm39) |
V70E |
probably damaging |
Het |
Med16 |
C |
T |
10: 79,738,362 (GRCm39) |
V319M |
probably damaging |
Het |
Mindy3 |
T |
C |
2: 12,352,911 (GRCm39) |
Y430C |
probably damaging |
Het |
Mup5 |
A |
T |
4: 61,751,286 (GRCm39) |
F121I |
probably benign |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Notch1 |
A |
G |
2: 26,366,116 (GRCm39) |
Y813H |
probably benign |
Het |
Or10a3m |
T |
C |
7: 108,312,794 (GRCm39) |
L66S |
probably damaging |
Het |
Or5p53 |
T |
C |
7: 107,533,110 (GRCm39) |
S128P |
probably damaging |
Het |
Or6b2b |
A |
T |
1: 92,419,288 (GRCm39) |
L63Q |
probably damaging |
Het |
Pi4kb |
A |
G |
3: 94,906,307 (GRCm39) |
Y301C |
probably damaging |
Het |
Ptch1 |
A |
G |
13: 63,692,869 (GRCm39) |
S244P |
probably benign |
Het |
Ptprn |
G |
A |
1: 75,231,242 (GRCm39) |
T554I |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,406,606 (GRCm39) |
I969V |
probably benign |
Het |
Raf1 |
T |
C |
6: 115,596,859 (GRCm39) |
M519V |
probably benign |
Het |
Ryr1 |
A |
G |
7: 28,803,785 (GRCm39) |
V622A |
probably damaging |
Het |
Spaca4 |
G |
T |
7: 45,374,719 (GRCm39) |
H94Q |
probably benign |
Het |
Spata31 |
A |
G |
13: 65,068,539 (GRCm39) |
D229G |
possibly damaging |
Het |
Tbx6 |
G |
A |
7: 126,384,025 (GRCm39) |
A359T |
possibly damaging |
Het |
Trpm8 |
T |
A |
1: 88,258,469 (GRCm39) |
Y251N |
probably damaging |
Het |
Vps16 |
T |
A |
2: 130,285,476 (GRCm39) |
N806K |
probably damaging |
Het |
Vwf |
T |
C |
6: 125,581,137 (GRCm39) |
F592L |
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 |
R4741:Doc2a
|
UTSW |
7 |
126,450,617 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4932:Doc2a
|
UTSW |
7 |
126,447,752 (GRCm39) |
unclassified |
probably benign |
|
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'- TAGAATCCTCAGGGCCAAGG -3'
(R):5'- ACAGGGTTCAGTGTGTTCCTC -3'
Sequencing Primer
(F):5'- CTCAGGGCCAAGGTGTGTATC -3'
(R):5'- TCAGTGTGTTCCTCTGTGTC -3'
|
Posted On |
2017-02-28 |