Incidental Mutation 'R6546:Syn2'
| ID |
521192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syn2
|
| Ensembl Gene |
ENSMUSG00000009394 |
| Gene Name |
synapsin II |
| Synonyms |
Synapsin IIa, 2900074L19Rik, Synapsin IIb |
| MMRRC Submission |
045325-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R6546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
115111863-115258967 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115258059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 546
(S546T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009538]
[ENSMUST00000169345]
[ENSMUST00000203450]
|
| AlphaFold |
Q64332 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009538
AA Change: S546T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000009538
Gene: ENSMUSG00000009394
AA Change: S546T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synapsin_N
|
2 |
33 |
3.4e-24 |
PFAM |
|
Pfam:Synapsin
|
112 |
213 |
6.4e-48 |
PFAM |
|
Pfam:Synapsin_C
|
215 |
417 |
8.2e-140 |
PFAM |
|
low complexity region
|
450 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
562 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169345
|
| SMART Domains |
Protein: ENSMUSP00000133121
Gene: ENSMUSG00000009394
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synapsin_N
|
2 |
33 |
1.3e-24 |
PFAM |
|
Pfam:Synapsin
|
109 |
213 |
1.6e-62 |
PFAM |
|
Pfam:Synapsin_C
|
215 |
417 |
4.4e-133 |
PFAM |
|
Pfam:RimK
|
247 |
403 |
4.5e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203450
|
| SMART Domains |
Protein: ENSMUSP00000144921
Gene: ENSMUSG00000009394
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synapsin_N
|
2 |
33 |
2.7e-24 |
PFAM |
|
Pfam:Synapsin
|
112 |
213 |
4.6e-48 |
PFAM |
|
Pfam:Synapsin_C
|
215 |
417 |
5.3e-140 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204726
|
| Meta Mutation Damage Score |
0.0619 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutation of this gene results in central nervous system abnormalities. One model showed delayed synapse formation and decreased brain weight while another allele showed decreased post-tetanic potentiation and increased synaptic depression and development of convulsive seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
T |
A |
6: 34,776,234 (GRCm39) |
L242M |
probably damaging |
Het |
| Atad2b |
A |
T |
12: 5,040,949 (GRCm39) |
H206L |
probably damaging |
Het |
| Bmp2k |
A |
G |
5: 97,235,937 (GRCm39) |
Q1120R |
probably benign |
Het |
| Cdk18 |
G |
A |
1: 132,050,088 (GRCm39) |
T29I |
probably damaging |
Het |
| Chrna3 |
T |
A |
9: 54,923,185 (GRCm39) |
I208F |
probably damaging |
Het |
| Dhrs1 |
G |
A |
14: 55,978,729 (GRCm39) |
P140S |
possibly damaging |
Het |
| Dnah14 |
C |
T |
1: 181,566,552 (GRCm39) |
R2775C |
probably damaging |
Het |
| Fnip1 |
T |
G |
11: 54,393,437 (GRCm39) |
N600K |
probably benign |
Het |
| Garin5b |
T |
C |
7: 4,761,464 (GRCm39) |
D416G |
probably benign |
Het |
| Jmjd6 |
T |
C |
11: 116,733,326 (GRCm39) |
Y117C |
probably damaging |
Het |
| Kbtbd4 |
T |
A |
2: 90,739,635 (GRCm39) |
V340E |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,871 (GRCm39) |
V1995A |
probably damaging |
Het |
| Krt10 |
T |
C |
11: 99,278,221 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,326,074 (GRCm39) |
D3022G |
probably benign |
Het |
| Map3k13 |
C |
T |
16: 21,740,527 (GRCm39) |
T618I |
probably benign |
Het |
| Mat1a |
G |
A |
14: 40,843,379 (GRCm39) |
V302M |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,859,539 (GRCm39) |
F242S |
probably damaging |
Het |
| Npffr2 |
A |
T |
5: 89,730,871 (GRCm39) |
K267M |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,460,672 (GRCm39) |
|
probably null |
Het |
| Papss2 |
A |
G |
19: 32,640,548 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Ppil4 |
T |
A |
10: 7,674,186 (GRCm39) |
I110N |
probably damaging |
Het |
| Qrfpr |
G |
A |
3: 36,234,414 (GRCm39) |
T309I |
probably damaging |
Het |
| Rbl2 |
C |
A |
8: 91,796,998 (GRCm39) |
S65R |
probably benign |
Het |
| Rchy1 |
G |
A |
5: 92,105,817 (GRCm39) |
H44Y |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,004,081 (GRCm39) |
T7A |
probably benign |
Het |
| St7 |
C |
T |
6: 17,852,313 (GRCm39) |
A233V |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,168,645 (GRCm39) |
Y5245* |
probably null |
Het |
| Trmt6 |
A |
G |
2: 132,654,073 (GRCm39) |
W52R |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,141,705 (GRCm39) |
V1264M |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,970,960 (GRCm39) |
V1004D |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,169,369 (GRCm39) |
H587L |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,652,741 (GRCm39) |
R478G |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,731,748 (GRCm39) |
E669G |
probably benign |
Het |
|
| Other mutations in Syn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03040:Syn2
|
APN |
6 |
115,240,926 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03328:Syn2
|
APN |
6 |
115,251,221 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0044:Syn2
|
UTSW |
6 |
115,112,108 (GRCm39) |
missense |
unknown |
|
|
R0267:Syn2
|
UTSW |
6 |
115,231,111 (GRCm39) |
unclassified |
probably benign |
|
|
R2026:Syn2
|
UTSW |
6 |
115,255,212 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2290:Syn2
|
UTSW |
6 |
115,251,190 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2900:Syn2
|
UTSW |
6 |
115,214,295 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3949:Syn2
|
UTSW |
6 |
115,204,290 (GRCm39) |
splice site |
probably null |
|
|
R3983:Syn2
|
UTSW |
6 |
115,214,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5101:Syn2
|
UTSW |
6 |
115,240,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Syn2
|
UTSW |
6 |
115,255,313 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6334:Syn2
|
UTSW |
6 |
115,240,875 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6766:Syn2
|
UTSW |
6 |
115,216,362 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7491:Syn2
|
UTSW |
6 |
115,231,615 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8671:Syn2
|
UTSW |
6 |
115,255,128 (GRCm39) |
nonsense |
probably null |
|
|
R9411:Syn2
|
UTSW |
6 |
115,231,152 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9764:Syn2
|
UTSW |
6 |
115,251,219 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTGAAGGACTTCCCAGTGC -3'
(R):5'- GCCACACATGTCAAGTCATGG -3'
Sequencing Primer
(F):5'- AAGGACTTCCCAGTGCCTAGTG -3'
(R):5'- CCAAACATGGCAGACTGCTGTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation