Incidental Mutation 'R8250:Synpo2l'
| ID |
640296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synpo2l
|
| Ensembl Gene |
ENSMUSG00000039376 |
| Gene Name |
synaptopodin 2-like |
| Synonyms |
1110054M18Rik, Chap |
| MMRRC Submission |
067676-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.814)
|
| Stock # |
R8250 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
20709014-20718422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 20712344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 321
(T321K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057090]
[ENSMUST00000117386]
[ENSMUST00000119483]
|
| AlphaFold |
Q8BWB1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057090
AA Change: T318K
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000053176
Gene: ENSMUSG00000039376
AA Change: T318K
| 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 benign
Transcript: ENSMUST00000117386
AA Change: T321K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000112792
Gene: ENSMUSG00000039376
AA Change: T321K
| 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 benign
Transcript: ENSMUST00000119483
AA Change: T92K
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112760
Gene: ENSMUSG00000039376
AA Change: T92K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 86,260,846 (GRCm39) |
E1027V |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,971,811 (GRCm39) |
S515P |
probably damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,126,245 (GRCm39) |
D81E |
unknown |
Het |
| Csrnp3 |
A |
G |
2: 65,852,562 (GRCm39) |
E330G |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
| Ftcd |
T |
G |
10: 76,417,461 (GRCm39) |
I300R |
probably damaging |
Het |
| Fxr1 |
T |
A |
3: 34,101,178 (GRCm39) |
Y161* |
probably null |
Het |
| Gabrg2 |
C |
T |
11: 41,858,379 (GRCm39) |
V250I |
probably benign |
Het |
| Gmcl1 |
T |
C |
6: 86,698,384 (GRCm39) |
D171G |
possibly damaging |
Het |
| Grk2 |
A |
G |
19: 4,339,962 (GRCm39) |
F375S |
probably damaging |
Het |
| Kat2b |
T |
A |
17: 53,970,564 (GRCm39) |
I650N |
probably damaging |
Het |
| Lhfpl6 |
T |
C |
3: 52,950,759 (GRCm39) |
I11T |
probably benign |
Het |
| Mbtd1 |
A |
G |
11: 93,801,176 (GRCm39) |
Y141C |
probably damaging |
Het |
| Mon1b |
A |
T |
8: 114,366,351 (GRCm39) |
E449V |
probably damaging |
Het |
| Mrpl47 |
T |
C |
3: 32,785,382 (GRCm39) |
N112S |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,767,392 (GRCm39) |
H865Q |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,351,310 (GRCm39) |
N1895S |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,879,318 (GRCm39) |
I693V |
probably benign |
Het |
| Oip5 |
A |
G |
2: 119,446,110 (GRCm39) |
S133P |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,586,566 (GRCm39) |
I95V |
probably damaging |
Het |
| Or10v1 |
A |
T |
19: 11,873,741 (GRCm39) |
M119L |
probably damaging |
Het |
| Or52l1 |
T |
C |
7: 104,830,518 (GRCm39) |
M16V |
|
Het |
| Or8k20 |
T |
C |
2: 86,106,498 (GRCm39) |
E111G |
probably damaging |
Het |
| P2rx3 |
A |
C |
2: 84,852,735 (GRCm39) |
V221G |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,556 (GRCm39) |
N56S |
possibly damaging |
Het |
| Psmd11 |
T |
C |
11: 80,336,752 (GRCm39) |
S135P |
possibly damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Sall3 |
T |
C |
18: 81,016,743 (GRCm39) |
D395G |
probably benign |
Het |
| Scube2 |
T |
C |
7: 109,463,377 (GRCm39) |
N62S |
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,423,182 (GRCm39) |
S275T |
probably damaging |
Het |
| Sirpb1a |
A |
T |
3: 15,444,104 (GRCm39) |
L382Q |
possibly damaging |
Het |
| Snrpn |
T |
A |
7: 59,636,633 (GRCm39) |
|
probably null |
Het |
| Sox5 |
A |
T |
6: 144,100,777 (GRCm39) |
S71T |
possibly damaging |
Het |
| Tex15 |
G |
A |
8: 34,055,233 (GRCm39) |
E285K |
probably null |
Het |
| Tmem126b |
G |
A |
7: 90,118,317 (GRCm39) |
L188F |
probably damaging |
Het |
| Ttll2 |
T |
C |
17: 7,618,767 (GRCm39) |
T387A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,667,155 (GRCm39) |
Y11484H |
unknown |
Het |
| Vmn2r76 |
T |
A |
7: 85,875,231 (GRCm39) |
Y582F |
possibly damaging |
Het |
| Zfp786 |
A |
T |
6: 47,797,729 (GRCm39) |
L403Q |
possibly damaging |
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 |
|
R0712:Synpo2l
|
UTSW |
14 |
20,711,907 (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 |
|
|
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'- GCTGTTCAAAGAGCTGGACC -3'
(R):5'- TCTTCATCTCCGCAGAACTG -3'
Sequencing Primer
(F):5'- TTCAAAGAGCTGGACCCCTCG -3'
(R):5'- CGCGCAGAAAGCCTCCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation