Incidental Mutation 'R0381:Sypl2'
ID |
30966 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sypl2
|
Ensembl Gene |
ENSMUSG00000027887 |
Gene Name |
synaptophysin like 2 |
Synonyms |
Mg29 |
MMRRC Submission |
038587-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0381 (G1)
|
Quality Score |
198 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
108119582-108133915 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108133473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 32
(E32G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116756
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000141387]
|
AlphaFold |
O89104 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141387
AA Change: E32G
PolyPhen 2
Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116756 Gene: ENSMUSG00000027887 AA Change: E32G
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
65 |
N/A |
INTRINSIC |
Pfam:MARVEL
|
107 |
309 |
7.2e-41 |
PFAM |
low complexity region
|
318 |
326 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156371
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198175
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile, but exhibit reduced body weight, abnormal skeletal muscle membranes and irregular skeletal muscle contractility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
A |
G |
7: 45,757,858 (GRCm39) |
V1297A |
possibly damaging |
Het |
Agbl2 |
C |
T |
2: 90,614,442 (GRCm39) |
H25Y |
probably damaging |
Het |
Akap11 |
A |
T |
14: 78,750,990 (GRCm39) |
W466R |
probably benign |
Het |
Ccdc66 |
T |
A |
14: 27,213,890 (GRCm39) |
Q471L |
probably damaging |
Het |
Dennd1c |
G |
A |
17: 57,380,822 (GRCm39) |
A210V |
probably damaging |
Het |
F13b |
A |
G |
1: 139,438,597 (GRCm39) |
K334E |
probably damaging |
Het |
Fam186a |
A |
C |
15: 99,840,055 (GRCm39) |
I2063R |
probably damaging |
Het |
Fcrl5 |
T |
C |
3: 87,353,767 (GRCm39) |
Y371H |
probably damaging |
Het |
Fnbp1 |
C |
T |
2: 30,923,041 (GRCm39) |
G549D |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,794,067 (GRCm39) |
Y869H |
probably benign |
Het |
Gm7592 |
A |
G |
1: 85,454,437 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2d |
C |
A |
7: 98,108,209 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
C |
T |
1: 150,479,562 (GRCm39) |
C4634Y |
probably damaging |
Het |
Kctd5 |
A |
G |
17: 24,278,194 (GRCm39) |
|
probably null |
Het |
Kics2 |
T |
C |
10: 121,581,280 (GRCm39) |
Y94H |
probably damaging |
Het |
Mettl24 |
C |
A |
10: 40,622,386 (GRCm39) |
H203N |
probably damaging |
Het |
Mitf |
A |
G |
6: 97,970,104 (GRCm39) |
E17G |
probably damaging |
Het |
Mmut |
T |
A |
17: 41,248,149 (GRCm39) |
W59R |
probably benign |
Het |
Mrc1 |
G |
A |
2: 14,312,720 (GRCm39) |
D881N |
probably benign |
Het |
Mrm1 |
T |
C |
11: 84,709,509 (GRCm39) |
T183A |
possibly damaging |
Het |
Mylk |
G |
A |
16: 34,605,344 (GRCm39) |
|
probably null |
Het |
Nab2 |
G |
A |
10: 127,500,936 (GRCm39) |
A19V |
probably damaging |
Het |
Ntsr2 |
T |
A |
12: 16,709,719 (GRCm39) |
Y333* |
probably null |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Tasp1 |
T |
C |
2: 139,793,403 (GRCm39) |
K258E |
probably damaging |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tenm4 |
G |
T |
7: 96,555,088 (GRCm39) |
V2561F |
probably damaging |
Het |
Tmc1 |
T |
C |
19: 20,776,409 (GRCm39) |
Y650C |
probably damaging |
Het |
Trim34b |
T |
C |
7: 103,979,062 (GRCm39) |
L103P |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,662,600 (GRCm39) |
|
probably null |
Het |
Vmn1r201 |
T |
A |
13: 22,659,193 (GRCm39) |
W136R |
probably damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,268,264 (GRCm39) |
Y68* |
probably null |
Het |
Wscd2 |
T |
A |
5: 113,689,192 (GRCm39) |
L66Q |
probably damaging |
Het |
|
Other mutations in Sypl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Sypl2
|
APN |
3 |
108,133,742 (GRCm39) |
start gained |
probably benign |
|
R0147:Sypl2
|
UTSW |
3 |
108,126,411 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0148:Sypl2
|
UTSW |
3 |
108,126,411 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0512:Sypl2
|
UTSW |
3 |
108,133,486 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0751:Sypl2
|
UTSW |
3 |
108,124,072 (GRCm39) |
missense |
probably damaging |
0.98 |
R1279:Sypl2
|
UTSW |
3 |
108,124,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R3411:Sypl2
|
UTSW |
3 |
108,124,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4085:Sypl2
|
UTSW |
3 |
108,124,992 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4086:Sypl2
|
UTSW |
3 |
108,124,992 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4088:Sypl2
|
UTSW |
3 |
108,124,992 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4089:Sypl2
|
UTSW |
3 |
108,124,992 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4090:Sypl2
|
UTSW |
3 |
108,124,992 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7063:Sypl2
|
UTSW |
3 |
108,124,971 (GRCm39) |
missense |
probably benign |
0.31 |
R7571:Sypl2
|
UTSW |
3 |
108,121,854 (GRCm39) |
makesense |
probably null |
|
R7980:Sypl2
|
UTSW |
3 |
108,125,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R8364:Sypl2
|
UTSW |
3 |
108,125,050 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8558:Sypl2
|
UTSW |
3 |
108,125,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTCGTCCGAGTGAAATGTGAGC -3'
(R):5'- GTCCCGAATGTGTCTGATTCCGTC -3'
Sequencing Primer
(F):5'- TTGCACATAGAAGGTCCGAATC -3'
(R):5'- AATGTGTCTGATTCCGTCTCTCC -3'
|
Posted On |
2013-04-24 |