Incidental Mutation 'R5392:Syt2'
| ID |
425886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt2
|
| Ensembl Gene |
ENSMUSG00000026452 |
| Gene Name |
synaptotagmin II |
| Synonyms |
|
| MMRRC Submission |
042964-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R5392 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
134574272-134680887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134671759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 179
(D179G)
|
| 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 damaging
Transcript: ENSMUST00000121990
AA Change: D179G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112438
Gene: ENSMUSG00000026452
AA Change: D179G
| 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 |
noncoding transcript
Transcript: ENSMUST00000187702
|
| 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 damaging
Transcript: ENSMUST00000188842
AA Change: D179G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140081
Gene: ENSMUSG00000026452
AA Change: D179G
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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 |
|---|
| Acoxl |
T |
C |
2: 127,852,088 (GRCm39) |
|
probably null |
Het |
| Acyp1 |
T |
C |
12: 85,325,759 (GRCm39) |
|
probably benign |
Het |
| Ces1b |
G |
A |
8: 93,798,590 (GRCm39) |
R199C |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,729,017 (GRCm39) |
R1308L |
probably benign |
Het |
| Cpa5 |
C |
T |
6: 30,630,829 (GRCm39) |
Q364* |
probably null |
Het |
| Cyth4 |
T |
A |
15: 78,491,185 (GRCm39) |
L88Q |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,896,243 (GRCm39) |
V59A |
probably damaging |
Het |
| Drd2 |
A |
G |
9: 49,306,928 (GRCm39) |
N5D |
possibly damaging |
Het |
| Epsti1 |
T |
C |
14: 78,224,184 (GRCm39) |
I272T |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,519,936 (GRCm39) |
C568* |
probably null |
Het |
| Frmd4a |
C |
T |
2: 4,599,384 (GRCm39) |
A161V |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,054,139 (GRCm39) |
T465A |
probably damaging |
Het |
| Hecw1 |
C |
A |
13: 14,420,347 (GRCm39) |
Q1025H |
probably damaging |
Het |
| Irak4 |
A |
T |
15: 94,454,565 (GRCm39) |
M237L |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,454,566 (GRCm39) |
M237T |
probably benign |
Het |
| Kdsr |
T |
A |
1: 106,680,971 (GRCm39) |
I76F |
possibly damaging |
Het |
| Kif15 |
T |
C |
9: 122,825,360 (GRCm39) |
F533S |
probably damaging |
Het |
| Kmt5b |
T |
C |
19: 3,852,127 (GRCm39) |
F103L |
possibly damaging |
Het |
| Krtcap2 |
C |
T |
3: 89,154,186 (GRCm39) |
L36F |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,568,448 (GRCm39) |
|
probably null |
Het |
| Mta1 |
T |
C |
12: 113,096,856 (GRCm39) |
V559A |
probably benign |
Het |
| N4bp1 |
A |
G |
8: 87,587,048 (GRCm39) |
|
probably null |
Het |
| Oas1d |
T |
C |
5: 121,055,003 (GRCm39) |
S192P |
possibly damaging |
Het |
| Or1n1b |
T |
A |
2: 36,780,686 (GRCm39) |
Y58F |
probably benign |
Het |
| Or6c76 |
A |
G |
10: 129,612,184 (GRCm39) |
I149V |
probably benign |
Het |
| Or6d15 |
A |
G |
6: 116,559,379 (GRCm39) |
F176S |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,359,501 (GRCm39) |
N21K |
probably damaging |
Het |
| Rad9b |
A |
T |
5: 122,489,641 (GRCm39) |
C25S |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,814,102 (GRCm39) |
S454P |
probably damaging |
Het |
| Spink2 |
T |
A |
5: 77,354,872 (GRCm39) |
H40L |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,298,661 (GRCm39) |
D1082V |
probably damaging |
Het |
| Tm7sf2 |
T |
C |
19: 6,113,998 (GRCm39) |
D181G |
probably damaging |
Het |
| Vmn1r174 |
A |
G |
7: 23,454,227 (GRCm39) |
I298V |
unknown |
Het |
| Vmn2r23 |
A |
T |
6: 123,681,323 (GRCm39) |
H77L |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,980,752 (GRCm39) |
E25G |
probably damaging |
Het |
| Zfp119a |
T |
C |
17: 56,173,328 (GRCm39) |
R172G |
probably benign |
Het |
| Zfp51 |
A |
T |
17: 21,685,584 (GRCm39) |
Y733F |
possibly damaging |
Het |
| Zfp658 |
A |
C |
7: 43,222,355 (GRCm39) |
E210A |
probably benign |
Het |
| Zp2 |
C |
A |
7: 119,734,987 (GRCm39) |
E433* |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTACTGGCTGAACTCGG -3'
(R):5'- CCATACTGAGCATATCCCAGGG -3'
Sequencing Primer
(F):5'- CTGAACTCGGCCCAGCC -3'
(R):5'- AGCATATCCCAGGGCTCCAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation