Incidental Mutation 'R2199:Synpo2l'
| ID |
238577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synpo2l
|
| Ensembl Gene |
ENSMUSG00000039376 |
| Gene Name |
synaptopodin 2-like |
| Synonyms |
1110054M18Rik, Chap |
| MMRRC Submission |
040201-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.814)
|
| Stock # |
R2199 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
20709014-20718422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20711987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 211
(L211S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057090]
[ENSMUST00000117386]
[ENSMUST00000119483]
|
| AlphaFold |
Q8BWB1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057090
AA Change: L437S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000053176
Gene: ENSMUSG00000039376
AA Change: L437S
| 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: L440S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112792
Gene: ENSMUSG00000039376
AA Change: L440S
| 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: L211S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112760
Gene: ENSMUSG00000039376
AA Change: L211S
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,554,598 (GRCm39) |
I119V |
probably benign |
Het |
| Arfgap2 |
T |
A |
2: 91,096,037 (GRCm39) |
|
probably null |
Het |
| Ccm2 |
T |
C |
11: 6,540,790 (GRCm39) |
V216A |
probably damaging |
Het |
| Ctdspl2 |
T |
C |
2: 121,817,510 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,283,527 (GRCm39) |
T2769A |
probably benign |
Het |
| Dnah3 |
C |
T |
7: 119,550,792 (GRCm39) |
V3165M |
possibly damaging |
Het |
| Dnajc1 |
A |
C |
2: 18,313,710 (GRCm39) |
F137C |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,765,378 (GRCm39) |
D924E |
possibly damaging |
Het |
| Gnrhr |
T |
C |
5: 86,345,677 (GRCm39) |
N3S |
probably benign |
Het |
| Grhl1 |
G |
T |
12: 24,662,169 (GRCm39) |
R536L |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,475,033 (GRCm39) |
|
probably null |
Het |
| Il20 |
T |
A |
1: 130,838,476 (GRCm39) |
I74L |
probably benign |
Het |
| Ints11 |
A |
G |
4: 155,959,738 (GRCm39) |
K115R |
probably benign |
Het |
| Irx4 |
A |
T |
13: 73,413,720 (GRCm39) |
E63D |
probably benign |
Het |
| Itch |
A |
C |
2: 155,044,141 (GRCm39) |
Q482P |
probably benign |
Het |
| Kctd8 |
C |
A |
5: 69,498,588 (GRCm39) |
M19I |
probably benign |
Het |
| Klhl31 |
T |
C |
9: 77,557,383 (GRCm39) |
L33P |
probably damaging |
Het |
| Lrp1 |
A |
T |
10: 127,382,709 (GRCm39) |
C3691S |
probably damaging |
Het |
| Lrrc39 |
A |
G |
3: 116,364,610 (GRCm39) |
D167G |
probably damaging |
Het |
| Lrrd1 |
A |
T |
5: 3,916,478 (GRCm39) |
I832L |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,904,774 (GRCm39) |
V1620A |
probably damaging |
Het |
| Ltbr |
T |
C |
6: 125,289,024 (GRCm39) |
K213E |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,039,039 (GRCm39) |
D883E |
possibly damaging |
Het |
| Nherf2 |
T |
C |
17: 24,859,570 (GRCm39) |
E174G |
probably null |
Het |
| Nmt1 |
T |
A |
11: 102,954,682 (GRCm39) |
S405T |
probably damaging |
Het |
| Nsd3 |
G |
T |
8: 26,156,073 (GRCm39) |
V547F |
probably damaging |
Het |
| Or4c110 |
A |
G |
2: 88,831,894 (GRCm39) |
V246A |
probably damaging |
Het |
| Or7g16 |
C |
A |
9: 18,727,219 (GRCm39) |
V124F |
probably damaging |
Het |
| Otud7a |
A |
G |
7: 63,407,404 (GRCm39) |
K569R |
possibly damaging |
Het |
| Otud7b |
A |
G |
3: 96,063,089 (GRCm39) |
Y776C |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,006,341 (GRCm39) |
I73T |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,350,835 (GRCm39) |
H3890L |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,015,085 (GRCm39) |
T948A |
probably benign |
Het |
| Slc44a3 |
T |
C |
3: 121,307,393 (GRCm39) |
I198V |
probably benign |
Het |
| Smg7 |
C |
A |
1: 152,730,079 (GRCm39) |
D405Y |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 130,145,895 (GRCm39) |
Y1601C |
probably benign |
Het |
| Traf4 |
T |
C |
11: 78,050,806 (GRCm39) |
Y450C |
probably damaging |
Het |
| Trpv1 |
A |
G |
11: 73,131,077 (GRCm39) |
K239E |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,585,150 (GRCm39) |
G20302S |
probably damaging |
Het |
| Ube2o |
A |
G |
11: 116,435,571 (GRCm39) |
S406P |
probably benign |
Het |
| Xrn2 |
C |
T |
2: 146,866,670 (GRCm39) |
A80V |
probably damaging |
Het |
| Zfp616 |
C |
T |
11: 73,975,456 (GRCm39) |
T575I |
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 |
|
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'- TCACCTTCTTAGGGGCCAAG -3'
(R):5'- TCTAGACATGGAGCTGGCTAG -3'
Sequencing Primer
(F):5'- CCAAGGGCCGGAAAATCACTG -3'
(R):5'- GGCAGCTAAGTGAGGTCTC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation