Incidental Mutation 'R1279:Sypl2'
| ID |
150966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sypl2
|
| Ensembl Gene |
ENSMUSG00000027887 |
| Gene Name |
synaptophysin like 2 |
| Synonyms |
Mg29 |
| MMRRC Submission |
039345-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1279 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108119582-108133915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108124990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 124
(F124L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000141387]
|
| AlphaFold |
O89104 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141387
AA Change: F124L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116756
Gene: ENSMUSG00000027887
AA Change: F124L
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.2%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Atp6v0d2 |
A |
T |
4: 19,878,298 (GRCm39) |
M325K |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm17305 |
TCTCCTCCTCCTCCTCCTCCTC |
TCTCCTCCTCCTCCTCCTC |
11: 69,260,175 (GRCm39) |
|
probably benign |
Het |
| Mfap5 |
A |
G |
6: 122,503,722 (GRCm39) |
|
probably null |
Het |
| Nrcam |
T |
C |
12: 44,591,660 (GRCm39) |
|
probably null |
Het |
| Oas1a |
A |
G |
5: 121,035,241 (GRCm39) |
|
probably null |
Het |
| Oat |
A |
T |
7: 132,168,809 (GRCm39) |
L137H |
probably damaging |
Het |
| Or10h5 |
T |
C |
17: 33,435,300 (GRCm39) |
Y6C |
possibly damaging |
Het |
| Or2n1c |
A |
G |
17: 38,519,678 (GRCm39) |
I181V |
probably benign |
Het |
| Or5h17 |
G |
A |
16: 58,820,501 (GRCm39) |
G151D |
possibly damaging |
Het |
| Padi3 |
T |
C |
4: 140,530,888 (GRCm39) |
S45G |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,799,427 (GRCm39) |
S488P |
probably damaging |
Het |
| Plxnb2 |
G |
A |
15: 89,046,524 (GRCm39) |
T873I |
probably benign |
Het |
| Ppp4r2 |
A |
T |
6: 100,842,879 (GRCm39) |
R176* |
probably null |
Het |
| Pramel51 |
C |
T |
12: 88,142,650 (GRCm39) |
V323M |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,508,146 (GRCm39) |
L932F |
probably damaging |
Het |
| Ros1 |
C |
A |
10: 52,018,262 (GRCm39) |
A799S |
possibly damaging |
Het |
| Scn4a |
A |
T |
11: 106,226,508 (GRCm39) |
I684N |
probably damaging |
Het |
| Tacr1 |
G |
T |
6: 82,534,164 (GRCm39) |
E397* |
probably null |
Het |
| Vmn1r7 |
T |
C |
6: 57,001,934 (GRCm39) |
T109A |
possibly damaging |
Het |
| Zp1 |
A |
G |
19: 10,895,941 (GRCm39) |
S232P |
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 |
|
R0381:Sypl2
|
UTSW |
3 |
108,133,473 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
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 |
|
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'- ACACATAGGCATCAGGACTCAGGG -3'
(R):5'- GCTTAGCTACCAGAAATGGCTGGAC -3'
Sequencing Primer
(F):5'- TCAGGACTCAGGGAAACTATTAC -3'
(R):5'- gagaccccaagttcaatccc -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation