Incidental Mutation 'IGL02611:Syt2'
| ID |
300466 |
| 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 # |
IGL02611
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
134574272-134680887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 134669620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 87
(C87Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121990]
[ENSMUST00000187725]
[ENSMUST00000188842]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121990
AA Change: C87Y
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112438
Gene: ENSMUSG00000026452
AA Change: C87Y
| 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 benign
Transcript: ENSMUST00000187725
|
| SMART Domains |
Protein: ENSMUSP00000141156
Gene: ENSMUSG00000026452
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4KBB|D
|
5 |
63 |
5e-18 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188842
AA Change: C87Y
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140081
Gene: ENSMUSG00000026452
AA Change: C87Y
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Chac1 |
T |
A |
2: 119,183,934 (GRCm39) |
Y179N |
probably damaging |
Het |
| Cyp2c37 |
T |
G |
19: 39,982,309 (GRCm39) |
F103L |
probably benign |
Het |
| Dmp1 |
A |
T |
5: 104,360,380 (GRCm39) |
D352V |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,963,075 (GRCm39) |
I443T |
probably benign |
Het |
| Furin |
G |
A |
7: 80,041,526 (GRCm39) |
A544V |
probably benign |
Het |
| Galntl6 |
A |
G |
8: 58,411,450 (GRCm39) |
M260T |
probably damaging |
Het |
| Gm17654 |
G |
A |
14: 43,816,462 (GRCm39) |
T47I |
possibly damaging |
Het |
| Hadha |
A |
G |
5: 30,333,941 (GRCm39) |
|
probably benign |
Het |
| Itfg2 |
T |
A |
6: 128,401,688 (GRCm39) |
N30I |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,950,128 (GRCm39) |
L1977H |
probably damaging |
Het |
| Lats1 |
T |
C |
10: 7,581,551 (GRCm39) |
F779L |
possibly damaging |
Het |
| Ltbp4 |
T |
C |
7: 27,010,080 (GRCm39) |
Y1160C |
probably damaging |
Het |
| Mcm7 |
C |
A |
5: 138,165,701 (GRCm39) |
S401I |
probably damaging |
Het |
| Or2ag1b |
G |
T |
7: 106,287,996 (GRCm39) |
T314K |
probably benign |
Het |
| Or52n20 |
A |
T |
7: 104,320,614 (GRCm39) |
D235V |
possibly damaging |
Het |
| Pcdh8 |
C |
T |
14: 80,005,107 (GRCm39) |
V876I |
probably benign |
Het |
| Pfpl |
T |
C |
19: 12,407,647 (GRCm39) |
S633P |
probably benign |
Het |
| Psg29 |
G |
A |
7: 16,942,716 (GRCm39) |
R239Q |
probably benign |
Het |
| St18 |
T |
A |
1: 6,839,114 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,131,967 (GRCm39) |
T2300A |
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 |
|
IGL02487:Syt2
|
APN |
1 |
134,668,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02524:Syt2
|
APN |
1 |
134,669,703 (GRCm39) |
missense |
probably benign |
|
|
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 |
Incidental Mutation