Incidental Mutation 'IGL02524:Syt2'
| ID |
296998 |
| 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 # |
IGL02524
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
134574272-134680887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134669703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 115
(K115E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121990]
[ENSMUST00000187725]
[ENSMUST00000188842]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121990
AA Change: K115E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112438
Gene: ENSMUSG00000026452
AA Change: K115E
| 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 |
probably benign
Transcript: ENSMUST00000188842
AA Change: K115E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140081
Gene: ENSMUSG00000026452
AA Change: K115E
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,338,319 (GRCm39) |
|
probably benign |
Het |
| Asap3 |
A |
T |
4: 135,965,927 (GRCm39) |
T453S |
probably damaging |
Het |
| Ccdc110 |
C |
T |
8: 46,394,979 (GRCm39) |
P290L |
probably benign |
Het |
| Ccdc127 |
A |
G |
13: 74,501,016 (GRCm39) |
N11S |
probably damaging |
Het |
| Cd80 |
T |
C |
16: 38,303,045 (GRCm39) |
V164A |
probably benign |
Het |
| Ctnna3 |
T |
C |
10: 64,096,605 (GRCm39) |
I381T |
possibly damaging |
Het |
| Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
| Etnppl |
A |
G |
3: 130,424,320 (GRCm39) |
|
probably benign |
Het |
| Far2 |
T |
A |
6: 148,052,156 (GRCm39) |
L145Q |
probably damaging |
Het |
| Fdxr |
A |
G |
11: 115,162,086 (GRCm39) |
|
probably null |
Het |
| Jmy |
A |
G |
13: 93,609,268 (GRCm39) |
V347A |
probably damaging |
Het |
| Kcns2 |
A |
G |
15: 34,838,981 (GRCm39) |
I115V |
probably benign |
Het |
| Kif2a |
A |
G |
13: 107,100,863 (GRCm39) |
L627S |
possibly damaging |
Het |
| Krtap26-1 |
A |
G |
16: 88,444,367 (GRCm39) |
S85P |
possibly damaging |
Het |
| Ldlr |
C |
A |
9: 21,644,977 (GRCm39) |
D168E |
probably damaging |
Het |
| Lrrc8e |
T |
G |
8: 4,285,392 (GRCm39) |
L539R |
probably damaging |
Het |
| Mmp8 |
A |
G |
9: 7,560,506 (GRCm39) |
E61G |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,985,785 (GRCm39) |
F121L |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,140,066 (GRCm39) |
K638E |
possibly damaging |
Het |
| Ndufaf6 |
A |
G |
4: 11,059,091 (GRCm39) |
F246S |
probably benign |
Het |
| Nynrin |
C |
T |
14: 56,108,931 (GRCm39) |
A1346V |
possibly damaging |
Het |
| Or8k53 |
A |
C |
2: 86,177,686 (GRCm39) |
C141W |
probably damaging |
Het |
| P2rx1 |
C |
T |
11: 72,900,474 (GRCm39) |
P196L |
probably damaging |
Het |
| Pbx3 |
T |
C |
2: 34,260,830 (GRCm39) |
|
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,073,232 (GRCm39) |
S30T |
probably benign |
Het |
| Rack1 |
T |
C |
11: 48,694,298 (GRCm39) |
V166A |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,358,511 (GRCm39) |
T206A |
probably benign |
Het |
| Rrp7a |
A |
G |
15: 83,002,379 (GRCm39) |
|
probably benign |
Het |
| Slco1b2 |
C |
T |
6: 141,616,798 (GRCm39) |
T377I |
probably benign |
Het |
| Spmip11 |
G |
A |
15: 98,469,006 (GRCm39) |
|
probably null |
Het |
| Sult2a6 |
A |
T |
7: 13,970,611 (GRCm39) |
S162T |
possibly damaging |
Het |
| Tet1 |
A |
G |
10: 62,714,425 (GRCm39) |
S457P |
probably damaging |
Het |
| Trbv3 |
A |
G |
6: 41,025,599 (GRCm39) |
E63G |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,961,145 (GRCm39) |
Y404C |
probably damaging |
Het |
| Usp32 |
G |
A |
11: 84,900,837 (GRCm39) |
R1128* |
probably null |
Het |
| Vps4a |
G |
A |
8: 107,763,383 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,980,921 (GRCm39) |
H505Q |
probably damaging |
Het |
| Ywhab |
T |
A |
2: 163,858,057 (GRCm39) |
L208Q |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,641,022 (GRCm39) |
K1241E |
probably benign |
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 |
|
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 |
Incidental Mutation