Incidental Mutation 'IGL03303:Syt2'
ID |
416307 |
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: 0.080)
|
Stock # |
IGL03303
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
134574272-134680887 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 134669649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 97
(N97D)
|
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: N97D
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112438 Gene: ENSMUSG00000026452 AA Change: N97D
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: N97D
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000140081 Gene: ENSMUSG00000026452 AA Change: N97D
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,644,122 (GRCm39) |
V940E |
probably damaging |
Het |
Agap1 |
T |
A |
1: 89,592,874 (GRCm39) |
V307D |
probably damaging |
Het |
Amd1 |
A |
G |
10: 40,166,121 (GRCm39) |
V286A |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 36,924,226 (GRCm39) |
E17G |
possibly damaging |
Het |
Chrne |
T |
C |
11: 70,505,926 (GRCm39) |
K453R |
possibly damaging |
Het |
Ckm |
T |
A |
7: 19,148,263 (GRCm39) |
|
probably benign |
Het |
Ckmt1 |
A |
G |
2: 121,190,486 (GRCm39) |
T138A |
probably benign |
Het |
Cldn4 |
A |
G |
5: 134,975,103 (GRCm39) |
V166A |
possibly damaging |
Het |
Dclre1a |
T |
C |
19: 56,535,198 (GRCm39) |
T129A |
possibly damaging |
Het |
Dlgap2 |
T |
A |
8: 14,777,812 (GRCm39) |
D352E |
probably damaging |
Het |
Dnmt1 |
A |
G |
9: 20,838,006 (GRCm39) |
I236T |
probably benign |
Het |
Enam |
G |
T |
5: 88,652,450 (GRCm39) |
V1320L |
probably benign |
Het |
Ezh1 |
A |
C |
11: 101,086,497 (GRCm39) |
|
probably null |
Het |
F13b |
A |
T |
1: 139,440,774 (GRCm39) |
D410V |
possibly damaging |
Het |
Fcrl6 |
A |
T |
1: 172,425,255 (GRCm39) |
Y259N |
probably damaging |
Het |
Fpr-rs7 |
A |
T |
17: 20,334,001 (GRCm39) |
F163Y |
possibly damaging |
Het |
Gpihbp1 |
C |
T |
15: 75,469,827 (GRCm39) |
Q181* |
probably null |
Het |
Htr2b |
T |
C |
1: 86,027,061 (GRCm39) |
|
probably benign |
Het |
Igkv1-35 |
A |
G |
6: 69,988,635 (GRCm39) |
I8T |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,724,182 (GRCm39) |
T584A |
probably benign |
Het |
Khdrbs3 |
A |
G |
15: 68,896,672 (GRCm39) |
T111A |
probably benign |
Het |
Krtap29-1 |
A |
T |
11: 99,869,669 (GRCm39) |
C71S |
probably benign |
Het |
Lrrc4c |
A |
T |
2: 97,459,937 (GRCm39) |
I188F |
probably damaging |
Het |
Med1 |
G |
T |
11: 98,049,178 (GRCm39) |
N539K |
probably damaging |
Het |
Mga |
T |
A |
2: 119,733,933 (GRCm39) |
D260E |
probably damaging |
Het |
Mnd1 |
A |
G |
3: 84,012,244 (GRCm39) |
I155T |
probably benign |
Het |
Msrb3 |
T |
C |
10: 120,620,046 (GRCm39) |
D91G |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,485,194 (GRCm39) |
D1102E |
probably damaging |
Het |
Nfx1 |
T |
A |
4: 41,004,323 (GRCm39) |
|
probably benign |
Het |
Nrsn2 |
T |
C |
2: 152,216,131 (GRCm39) |
D24G |
possibly damaging |
Het |
Or4c127 |
A |
T |
2: 89,832,810 (GRCm39) |
K20I |
possibly damaging |
Het |
Osmr |
T |
A |
15: 6,872,289 (GRCm39) |
R268S |
probably benign |
Het |
Pelo |
C |
A |
13: 115,225,197 (GRCm39) |
V343L |
probably damaging |
Het |
Rp1 |
T |
A |
1: 4,415,040 (GRCm39) |
N2024I |
probably damaging |
Het |
Rps6ka2 |
C |
T |
17: 7,495,411 (GRCm39) |
Q33* |
probably null |
Het |
Slfn2 |
G |
A |
11: 82,960,293 (GRCm39) |
V91I |
possibly damaging |
Het |
Socs6 |
G |
T |
18: 88,887,868 (GRCm39) |
A349E |
probably damaging |
Het |
Tas2r123 |
T |
A |
6: 132,824,401 (GRCm39) |
H99Q |
probably damaging |
Het |
Tmc3 |
A |
G |
7: 83,239,933 (GRCm39) |
|
probably benign |
Het |
Ube2s |
A |
T |
7: 4,813,476 (GRCm39) |
V35D |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,913,658 (GRCm39) |
V891D |
probably damaging |
Het |
Vmn1r169 |
A |
T |
7: 23,277,434 (GRCm39) |
E275D |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,841,786 (GRCm39) |
H1936R |
probably benign |
Het |
Wrap73 |
C |
A |
4: 154,231,000 (GRCm39) |
A92E |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,468,410 (GRCm39) |
T2856M |
probably damaging |
Het |
Zmym1 |
A |
T |
4: 126,942,927 (GRCm39) |
I487N |
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 |
|
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 |
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 |
2016-08-02 |