Incidental Mutation 'IGL02487:Syt2'
ID |
295458 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Syt2
|
Ensembl Gene |
ENSMUSG00000026452 |
Gene Name |
synaptotagmin II |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
IGL02487
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
134574272-134680887 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 134668603 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 5
(F5S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141156
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121990]
[ENSMUST00000187725]
[ENSMUST00000188842]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000121990
AA Change: F5S
|
SMART Domains |
Protein: ENSMUSP00000112438 Gene: ENSMUSG00000026452 AA Change: F5S
Domain | Start | End | E-Value | Type |
PDB:4KBB|D
|
5 |
63 |
7e-16 |
PDB |
transmembrane domain
|
65 |
87 |
N/A |
INTRINSIC |
low complexity region
|
124 |
145 |
N/A |
INTRINSIC |
C2
|
158 |
260 |
7.21e-22 |
SMART |
C2
|
289 |
403 |
1.86e-24 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187725
AA Change: F5S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141156 Gene: ENSMUSG00000026452 AA Change: F5S
Domain | Start | End | E-Value | Type |
PDB:4KBB|D
|
5 |
63 |
5e-18 |
PDB |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000188842
AA Change: F5S
|
SMART Domains |
Protein: ENSMUSP00000140081 Gene: ENSMUSG00000026452 AA Change: F5S
Domain | Start | End | E-Value | Type |
PDB:4KBB|D
|
5 |
63 |
7e-16 |
PDB |
transmembrane domain
|
65 |
87 |
N/A |
INTRINSIC |
low complexity region
|
124 |
145 |
N/A |
INTRINSIC |
C2
|
158 |
260 |
7.21e-22 |
SMART |
C2
|
289 |
403 |
1.86e-24 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] PHENOTYPE: Mice homozygous for an ENU-induced allele are viable but sterile, weigh less and show ataxia and altered spontaneous and Ca2+-evoked neurotransmitter release. Mice homozygous for a null allele die at weaning showing growth arrest, motor dysfunction and impaired Ca2+-evoked neurotransmitter release. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
T |
A |
11: 54,227,769 (GRCm39) |
I308N |
possibly damaging |
Het |
Adal |
C |
T |
2: 120,985,877 (GRCm39) |
T204I |
probably benign |
Het |
Akirin1 |
A |
G |
4: 123,637,357 (GRCm39) |
F76S |
probably benign |
Het |
Arhgef5 |
A |
T |
6: 43,260,916 (GRCm39) |
N1447I |
probably damaging |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
B230217C12Rik |
A |
G |
11: 97,733,054 (GRCm39) |
N125S |
probably benign |
Het |
Dcaf11 |
G |
T |
14: 55,806,571 (GRCm39) |
K457N |
probably benign |
Het |
Dnah10 |
G |
A |
5: 124,870,916 (GRCm39) |
V2348M |
possibly damaging |
Het |
Eif4g3 |
T |
C |
4: 137,930,689 (GRCm39) |
V1665A |
possibly damaging |
Het |
Fat4 |
A |
T |
3: 38,941,394 (GRCm39) |
I96F |
probably damaging |
Het |
Gm29253 |
T |
C |
1: 75,149,321 (GRCm39) |
|
probably null |
Het |
Gvin-ps6 |
A |
G |
7: 106,022,471 (GRCm39) |
|
noncoding transcript |
Het |
Hnrnpm |
C |
A |
17: 33,867,787 (GRCm39) |
G676C |
probably damaging |
Het |
Iah1 |
T |
C |
12: 21,371,440 (GRCm39) |
M185T |
probably damaging |
Het |
Klc1 |
A |
T |
12: 111,738,886 (GRCm39) |
I45F |
probably damaging |
Het |
Lce1h |
G |
A |
3: 92,671,048 (GRCm39) |
P35S |
unknown |
Het |
Lrrc37a |
T |
C |
11: 103,386,863 (GRCm39) |
E2419G |
unknown |
Het |
Lrrc8c |
T |
A |
5: 105,754,457 (GRCm39) |
S77R |
probably benign |
Het |
Mcm3ap |
T |
A |
10: 76,343,389 (GRCm39) |
|
probably benign |
Het |
Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
Ntng1 |
A |
T |
3: 109,842,363 (GRCm39) |
S137T |
probably damaging |
Het |
Odf2 |
C |
A |
2: 29,810,851 (GRCm39) |
A578E |
possibly damaging |
Het |
Pecam1 |
G |
A |
11: 106,562,606 (GRCm39) |
T698I |
probably damaging |
Het |
Pex10 |
A |
T |
4: 155,155,190 (GRCm39) |
H288L |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,322,822 (GRCm39) |
V36A |
possibly damaging |
Het |
Podxl |
T |
C |
6: 31,499,957 (GRCm39) |
*504W |
probably null |
Het |
Rab42 |
A |
G |
4: 132,029,614 (GRCm39) |
S203P |
probably benign |
Het |
Rsf1 |
T |
C |
7: 97,288,698 (GRCm39) |
S192P |
probably damaging |
Het |
Scap |
C |
T |
9: 110,207,758 (GRCm39) |
T489I |
probably benign |
Het |
Sost |
C |
A |
11: 101,857,633 (GRCm39) |
R56L |
possibly damaging |
Het |
Speer4a3 |
T |
A |
5: 26,156,605 (GRCm39) |
I125F |
probably benign |
Het |
Spmip10 |
T |
A |
18: 56,727,571 (GRCm39) |
W90R |
possibly damaging |
Het |
Sptbn4 |
A |
G |
7: 27,118,522 (GRCm39) |
V264A |
probably damaging |
Het |
Stx3 |
A |
G |
19: 11,760,469 (GRCm39) |
V236A |
probably damaging |
Het |
Thrap3 |
T |
C |
4: 126,060,794 (GRCm39) |
D855G |
possibly damaging |
Het |
Ticrr |
T |
C |
7: 79,332,769 (GRCm39) |
V874A |
possibly damaging |
Het |
Tmem26 |
A |
G |
10: 68,614,563 (GRCm39) |
E326G |
probably benign |
Het |
Tsga13 |
A |
T |
6: 30,884,362 (GRCm39) |
Y119N |
probably damaging |
Het |
Tspoap1 |
C |
T |
11: 87,653,342 (GRCm39) |
T136I |
possibly damaging |
Het |
Ttc21b |
T |
C |
2: 66,065,500 (GRCm39) |
T425A |
probably benign |
Het |
Ttc27 |
A |
G |
17: 75,163,549 (GRCm39) |
Y719C |
probably damaging |
Het |
Usp10 |
C |
A |
8: 120,675,514 (GRCm39) |
S511Y |
probably damaging |
Het |
Vmn1r197 |
A |
G |
13: 22,512,792 (GRCm39) |
M238V |
probably damaging |
Het |
|
Other mutations in Syt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02385:Syt2
|
APN |
1 |
134,673,553 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02476:Syt2
|
APN |
1 |
134,675,369 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02524:Syt2
|
APN |
1 |
134,669,703 (GRCm39) |
missense |
probably benign |
|
IGL02611:Syt2
|
APN |
1 |
134,669,620 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03173:Syt2
|
APN |
1 |
134,671,317 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03303:Syt2
|
APN |
1 |
134,669,649 (GRCm39) |
missense |
probably benign |
0.44 |
kringle
|
UTSW |
1 |
134,675,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R1661:Syt2
|
UTSW |
1 |
134,675,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R1665:Syt2
|
UTSW |
1 |
134,675,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R2049:Syt2
|
UTSW |
1 |
134,674,479 (GRCm39) |
splice site |
probably benign |
|
R2130:Syt2
|
UTSW |
1 |
134,674,479 (GRCm39) |
splice site |
probably benign |
|
R2141:Syt2
|
UTSW |
1 |
134,674,479 (GRCm39) |
splice site |
probably benign |
|
R3154:Syt2
|
UTSW |
1 |
134,669,599 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5392:Syt2
|
UTSW |
1 |
134,671,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R5431:Syt2
|
UTSW |
1 |
134,668,695 (GRCm39) |
missense |
probably benign |
0.03 |
R6065:Syt2
|
UTSW |
1 |
134,675,295 (GRCm39) |
missense |
probably benign |
0.00 |
R6381:Syt2
|
UTSW |
1 |
134,674,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R6816:Syt2
|
UTSW |
1 |
134,673,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R6923:Syt2
|
UTSW |
1 |
134,674,501 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7002:Syt2
|
UTSW |
1 |
134,671,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R7973:Syt2
|
UTSW |
1 |
134,668,570 (GRCm39) |
splice site |
probably null |
|
R7994:Syt2
|
UTSW |
1 |
134,675,330 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8410:Syt2
|
UTSW |
1 |
134,674,602 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8902:Syt2
|
UTSW |
1 |
134,675,391 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9592:Syt2
|
UTSW |
1 |
134,671,773 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
Posted On |
2015-04-16 |