Incidental Mutation 'R0712:Synpo2l'
ID |
62795 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synpo2l
|
Ensembl Gene |
ENSMUSG00000039376 |
Gene Name |
synaptopodin 2-like |
Synonyms |
1110054M18Rik, Chap |
MMRRC Submission |
038895-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.814)
|
Stock # |
R0712 (G1)
|
Quality Score |
84 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
20709014-20718422 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20711907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 238
(S238P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112760
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057090]
[ENSMUST00000117386]
[ENSMUST00000119483]
|
AlphaFold |
Q8BWB1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057090
AA Change: S464P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053176 Gene: ENSMUSG00000039376 AA Change: S464P
Domain | Start | End | E-Value | Type |
PDZ
|
15 |
85 |
3.52e-10 |
SMART |
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
low complexity region
|
151 |
162 |
N/A |
INTRINSIC |
low complexity region
|
202 |
230 |
N/A |
INTRINSIC |
low complexity region
|
243 |
257 |
N/A |
INTRINSIC |
low complexity region
|
429 |
444 |
N/A |
INTRINSIC |
low complexity region
|
500 |
518 |
N/A |
INTRINSIC |
low complexity region
|
530 |
540 |
N/A |
INTRINSIC |
low complexity region
|
563 |
580 |
N/A |
INTRINSIC |
low complexity region
|
591 |
604 |
N/A |
INTRINSIC |
low complexity region
|
700 |
726 |
N/A |
INTRINSIC |
low complexity region
|
781 |
797 |
N/A |
INTRINSIC |
low complexity region
|
867 |
880 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117386
AA Change: S467P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112792 Gene: ENSMUSG00000039376 AA Change: S467P
Domain | Start | End | E-Value | Type |
PDZ
|
15 |
88 |
1.34e-15 |
SMART |
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
low complexity region
|
154 |
165 |
N/A |
INTRINSIC |
low complexity region
|
205 |
233 |
N/A |
INTRINSIC |
low complexity region
|
246 |
260 |
N/A |
INTRINSIC |
low complexity region
|
432 |
447 |
N/A |
INTRINSIC |
low complexity region
|
503 |
521 |
N/A |
INTRINSIC |
low complexity region
|
533 |
543 |
N/A |
INTRINSIC |
low complexity region
|
566 |
583 |
N/A |
INTRINSIC |
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
low complexity region
|
703 |
729 |
N/A |
INTRINSIC |
low complexity region
|
784 |
800 |
N/A |
INTRINSIC |
low complexity region
|
870 |
883 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119483
AA Change: S238P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112760 Gene: ENSMUSG00000039376 AA Change: S238P
Domain | Start | End | E-Value | Type |
low complexity region
|
203 |
218 |
N/A |
INTRINSIC |
low complexity region
|
274 |
292 |
N/A |
INTRINSIC |
low complexity region
|
304 |
314 |
N/A |
INTRINSIC |
low complexity region
|
337 |
354 |
N/A |
INTRINSIC |
low complexity region
|
365 |
378 |
N/A |
INTRINSIC |
low complexity region
|
474 |
500 |
N/A |
INTRINSIC |
low complexity region
|
555 |
571 |
N/A |
INTRINSIC |
low complexity region
|
641 |
654 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd1 |
G |
A |
X: 72,774,471 (GRCm39) |
V489M |
possibly damaging |
Het |
Anln |
A |
T |
9: 22,291,594 (GRCm39) |
V78E |
probably benign |
Het |
Atp2b4 |
T |
C |
1: 133,658,216 (GRCm39) |
K565E |
probably damaging |
Het |
Cap2 |
T |
C |
13: 46,768,837 (GRCm39) |
|
probably null |
Het |
Cdh22 |
A |
G |
2: 165,012,576 (GRCm39) |
Y170H |
probably damaging |
Het |
Chrna5 |
A |
T |
9: 54,911,647 (GRCm39) |
K45I |
probably damaging |
Het |
Dnaaf4 |
G |
T |
9: 72,867,939 (GRCm39) |
G67* |
probably null |
Het |
Hdac8 |
T |
A |
X: 101,543,524 (GRCm39) |
M67L |
probably benign |
Het |
Lama1 |
A |
G |
17: 68,086,037 (GRCm39) |
|
probably null |
Het |
Lrba |
T |
A |
3: 86,205,297 (GRCm39) |
Y380* |
probably null |
Het |
Mastl |
A |
G |
2: 23,041,005 (GRCm39) |
Y106H |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,940,271 (GRCm39) |
E5210G |
possibly damaging |
Het |
Or12d2 |
T |
A |
17: 37,624,975 (GRCm39) |
H100L |
probably damaging |
Het |
Or4d5 |
A |
G |
9: 40,012,726 (GRCm39) |
V20A |
probably benign |
Het |
Pcgf2 |
T |
C |
11: 97,581,830 (GRCm39) |
Y21C |
probably damaging |
Het |
Penk |
T |
C |
4: 4,134,257 (GRCm39) |
E130G |
probably benign |
Het |
Rnmt |
G |
A |
18: 68,440,859 (GRCm39) |
|
probably null |
Het |
Stk11ip |
T |
A |
1: 75,504,091 (GRCm39) |
L277Q |
probably damaging |
Het |
Tex264 |
A |
C |
9: 106,536,431 (GRCm39) |
L242R |
possibly damaging |
Het |
Ubald2 |
T |
C |
11: 116,325,401 (GRCm39) |
F46S |
probably damaging |
Het |
Zfp692 |
T |
C |
11: 58,205,140 (GRCm39) |
V463A |
probably benign |
Het |
|
Other mutations in Synpo2l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0048:Synpo2l
|
UTSW |
14 |
20,716,340 (GRCm39) |
unclassified |
probably benign |
|
R0277:Synpo2l
|
UTSW |
14 |
20,711,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R0440:Synpo2l
|
UTSW |
14 |
20,711,466 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0540:Synpo2l
|
UTSW |
14 |
20,710,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:Synpo2l
|
UTSW |
14 |
20,710,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R1175:Synpo2l
|
UTSW |
14 |
20,718,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1563:Synpo2l
|
UTSW |
14 |
20,711,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R1729:Synpo2l
|
UTSW |
14 |
20,715,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R1730:Synpo2l
|
UTSW |
14 |
20,715,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Synpo2l
|
UTSW |
14 |
20,715,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R2199:Synpo2l
|
UTSW |
14 |
20,711,987 (GRCm39) |
missense |
probably benign |
0.00 |
R2213:Synpo2l
|
UTSW |
14 |
20,710,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R3085:Synpo2l
|
UTSW |
14 |
20,712,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4787:Synpo2l
|
UTSW |
14 |
20,711,765 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5256:Synpo2l
|
UTSW |
14 |
20,711,082 (GRCm39) |
missense |
probably benign |
0.00 |
R5454:Synpo2l
|
UTSW |
14 |
20,712,360 (GRCm39) |
missense |
probably damaging |
0.99 |
R5455:Synpo2l
|
UTSW |
14 |
20,712,360 (GRCm39) |
missense |
probably damaging |
0.99 |
R5765:Synpo2l
|
UTSW |
14 |
20,716,198 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5950:Synpo2l
|
UTSW |
14 |
20,716,003 (GRCm39) |
missense |
probably benign |
0.00 |
R6376:Synpo2l
|
UTSW |
14 |
20,710,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R6438:Synpo2l
|
UTSW |
14 |
20,711,204 (GRCm39) |
missense |
probably benign |
0.00 |
R6440:Synpo2l
|
UTSW |
14 |
20,718,244 (GRCm39) |
missense |
probably damaging |
0.98 |
R6511:Synpo2l
|
UTSW |
14 |
20,712,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R6834:Synpo2l
|
UTSW |
14 |
20,710,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R7735:Synpo2l
|
UTSW |
14 |
20,711,243 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7968:Synpo2l
|
UTSW |
14 |
20,716,870 (GRCm39) |
splice site |
probably null |
|
R8250:Synpo2l
|
UTSW |
14 |
20,712,344 (GRCm39) |
missense |
probably benign |
0.03 |
R8282:Synpo2l
|
UTSW |
14 |
20,711,204 (GRCm39) |
missense |
probably benign |
0.00 |
R8359:Synpo2l
|
UTSW |
14 |
20,716,208 (GRCm39) |
missense |
probably benign |
|
R8771:Synpo2l
|
UTSW |
14 |
20,710,491 (GRCm39) |
missense |
probably damaging |
0.98 |
R8853:Synpo2l
|
UTSW |
14 |
20,711,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R9136:Synpo2l
|
UTSW |
14 |
20,715,857 (GRCm39) |
missense |
probably damaging |
0.97 |
R9253:Synpo2l
|
UTSW |
14 |
20,716,738 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9705:Synpo2l
|
UTSW |
14 |
20,710,989 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Synpo2l
|
UTSW |
14 |
20,716,035 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Synpo2l
|
UTSW |
14 |
20,710,572 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTACAAGGAACTGGTAGCGGTCAC -3'
(R):5'- AGCAGCTATGCTTAATGGGCAGAG -3'
Sequencing Primer
(F):5'- TAGCGGTCACAGGACCAG -3'
(R):5'- AGCTGTGCTCCCACTCA -3'
|
Posted On |
2013-07-30 |