Incidental Mutation 'R8410:Syt2'
| ID |
652609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt2
|
| Ensembl Gene |
ENSMUSG00000026452 |
| Gene Name |
synaptotagmin II |
| Synonyms |
|
| MMRRC Submission |
067880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R8410 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134574272-134680887 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 134674602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 347
(E347K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121990]
[ENSMUST00000188842]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121990
AA Change: E347K
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112438
Gene: ENSMUSG00000026452
AA Change: E347K
| 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 |
possibly damaging
Transcript: ENSMUST00000188842
AA Change: E347K
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140081
Gene: ENSMUSG00000026452
AA Change: E347K
| 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 |
|
| Meta Mutation Damage Score |
0.4374 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
95% (40/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
A |
T |
12: 110,635,145 (GRCm39) |
M131K |
probably benign |
Het |
| Alox15 |
T |
C |
11: 70,235,753 (GRCm39) |
T569A |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,229,867 (GRCm39) |
V1278A |
possibly damaging |
Het |
| Armc5 |
C |
T |
7: 127,839,323 (GRCm39) |
R214C |
probably damaging |
Het |
| Asl |
A |
G |
5: 130,042,351 (GRCm39) |
F242L |
possibly damaging |
Het |
| Atoh1 |
G |
A |
6: 64,706,634 (GRCm39) |
G110S |
probably benign |
Het |
| Caskin1 |
T |
C |
17: 24,721,123 (GRCm39) |
F488L |
possibly damaging |
Het |
| Chsy1 |
T |
A |
7: 65,775,211 (GRCm39) |
L180Q |
probably damaging |
Het |
| D1Pas1 |
A |
T |
1: 186,700,512 (GRCm39) |
Q147L |
probably benign |
Het |
| D930020B18Rik |
A |
G |
10: 121,521,435 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,395,819 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
G |
13: 38,380,791 (GRCm39) |
E2512G |
possibly damaging |
Het |
| Eci2 |
T |
C |
13: 35,162,018 (GRCm39) |
K351R |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,446,598 (GRCm39) |
V2390A |
possibly damaging |
Het |
| Frmpd2 |
G |
A |
14: 33,217,624 (GRCm39) |
A40T |
probably damaging |
Het |
| Gapdhs |
G |
A |
7: 30,437,335 (GRCm39) |
P77S |
unknown |
Het |
| Heatr5a |
T |
A |
12: 51,984,903 (GRCm39) |
I637F |
probably benign |
Het |
| Jakmip1 |
G |
A |
5: 37,274,828 (GRCm39) |
V449M |
possibly damaging |
Het |
| Myh14 |
G |
T |
7: 44,282,907 (GRCm39) |
F737L |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,944,684 (GRCm39) |
V560A |
probably damaging |
Het |
| Or13n4 |
T |
A |
7: 106,423,745 (GRCm39) |
|
probably benign |
Het |
| Or2v2 |
A |
T |
11: 49,004,511 (GRCm39) |
I14N |
possibly damaging |
Het |
| Or4f4-ps1 |
T |
A |
2: 111,330,047 (GRCm39) |
M150K |
probably damaging |
Het |
| Or6x1 |
C |
T |
9: 40,098,732 (GRCm39) |
T107I |
possibly damaging |
Het |
| Prex2 |
G |
T |
1: 11,223,881 (GRCm39) |
R735L |
possibly damaging |
Het |
| Rrm2 |
T |
C |
12: 24,758,622 (GRCm39) |
S55P |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Ruvbl2 |
T |
C |
7: 45,080,756 (GRCm39) |
I19V |
probably benign |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Slc15a5 |
A |
T |
6: 137,989,153 (GRCm39) |
M147K |
|
Het |
| St3gal5 |
A |
G |
6: 72,119,281 (GRCm39) |
D158G |
probably benign |
Het |
| Stac3 |
G |
A |
10: 127,339,199 (GRCm39) |
D103N |
probably damaging |
Het |
| Tent5b |
A |
G |
4: 133,214,362 (GRCm39) |
Q411R |
possibly damaging |
Het |
| Ticrr |
A |
G |
7: 79,317,423 (GRCm39) |
E319G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,539,985 (GRCm39) |
S34334P |
probably damaging |
Het |
| Uqcrb |
C |
A |
13: 67,048,850 (GRCm39) |
R100L |
unknown |
Het |
| Usp43 |
T |
G |
11: 67,747,146 (GRCm39) |
T854P |
probably damaging |
Het |
| Vmn2r102 |
T |
C |
17: 19,898,196 (GRCm39) |
Y404H |
possibly damaging |
Het |
| Wrn |
C |
T |
8: 33,759,048 (GRCm39) |
G970D |
probably damaging |
Het |
| Zfp456 |
A |
G |
13: 67,520,915 (GRCm39) |
Y27H |
probably damaging |
Het |
| Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
probably damaging |
Het |
| Zyx |
A |
T |
6: 42,333,384 (GRCm39) |
N437Y |
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 |
|
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 |
|
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'- AGATGACCCCTCTGCTTCTG -3'
(R):5'- TTCAAAAGGGTCCTCTACAGGGTC -3'
Sequencing Primer
(F):5'- TCCTCTGGGCTTCCTAGGG -3'
(R):5'- GGTCCTCTACAGGGTCCCATC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation