Incidental Mutation 'R6511:Synpo2l'
ID |
519930 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synpo2l
|
Ensembl Gene |
ENSMUSG00000039376 |
Gene Name |
synaptopodin 2-like |
Synonyms |
1110054M18Rik, Chap |
MMRRC Submission |
044639-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.814)
|
Stock # |
R6511 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
20709014-20718422 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20712518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 34
(E34G)
|
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: E260G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053176 Gene: ENSMUSG00000039376 AA Change: E260G
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: E263G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112792 Gene: ENSMUSG00000039376 AA Change: E263G
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: E34G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112760 Gene: ENSMUSG00000039376 AA Change: E34G
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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
A |
16: 20,195,344 (GRCm39) |
H718Y |
probably damaging |
Het |
Abcc8 |
G |
A |
7: 45,800,285 (GRCm39) |
T499I |
possibly damaging |
Het |
Azin2 |
C |
A |
4: 128,828,259 (GRCm39) |
R316L |
probably damaging |
Het |
Cep85l |
C |
T |
10: 53,154,188 (GRCm39) |
V702I |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,667,220 (GRCm39) |
C442S |
probably damaging |
Het |
Commd3 |
G |
A |
2: 18,679,650 (GRCm39) |
G148R |
probably benign |
Het |
Cyfip2 |
T |
C |
11: 46,087,135 (GRCm39) |
T1252A |
probably benign |
Het |
Cyp4a30b |
A |
T |
4: 115,313,905 (GRCm39) |
D162V |
probably damaging |
Het |
Exoc3l |
G |
T |
8: 106,019,887 (GRCm39) |
T346K |
probably benign |
Het |
Gas8 |
T |
C |
8: 124,250,896 (GRCm39) |
V123A |
probably benign |
Het |
Hmcn2 |
T |
G |
2: 31,246,354 (GRCm39) |
D774E |
possibly damaging |
Het |
Itga1 |
G |
T |
13: 115,129,037 (GRCm39) |
S540R |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,231,225 (GRCm39) |
N1145S |
probably damaging |
Het |
Kcnc2 |
C |
T |
10: 112,297,972 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
G |
A |
19: 3,702,296 (GRCm39) |
R174W |
probably damaging |
Het |
Lrrn4 |
T |
G |
2: 132,712,246 (GRCm39) |
S526R |
probably benign |
Het |
Map3k6 |
G |
A |
4: 132,975,389 (GRCm39) |
R708H |
probably damaging |
Het |
Mefv |
T |
C |
16: 3,533,810 (GRCm39) |
T154A |
probably benign |
Het |
Mrtfb |
T |
A |
16: 13,197,714 (GRCm39) |
S66R |
probably damaging |
Het |
Mtif2 |
G |
T |
11: 29,486,949 (GRCm39) |
A320S |
possibly damaging |
Het |
Nos2 |
A |
G |
11: 78,846,290 (GRCm39) |
|
probably null |
Het |
Or4k15b |
A |
G |
14: 50,272,266 (GRCm39) |
L198P |
probably damaging |
Het |
Or9g4 |
A |
G |
2: 85,505,184 (GRCm39) |
S104P |
possibly damaging |
Het |
Pip5k1c |
T |
C |
10: 81,146,651 (GRCm39) |
Y44H |
probably damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,798,001 (GRCm39) |
E972G |
probably damaging |
Het |
Prdm12 |
T |
C |
2: 31,530,321 (GRCm39) |
S71P |
probably damaging |
Het |
Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
Ptprb |
T |
C |
10: 116,182,725 (GRCm39) |
L1467P |
probably damaging |
Het |
Rnf43 |
G |
A |
11: 87,622,989 (GRCm39) |
V697I |
probably benign |
Het |
Rpl7 |
C |
A |
1: 16,173,889 (GRCm39) |
A12S |
probably benign |
Het |
Slc25a54 |
T |
G |
3: 109,001,572 (GRCm39) |
I120S |
possibly damaging |
Het |
Slc41a2 |
T |
C |
10: 83,119,652 (GRCm39) |
H370R |
probably damaging |
Het |
Speer1d |
A |
G |
5: 11,307,275 (GRCm39) |
Y51C |
probably benign |
Het |
Sv2c |
C |
T |
13: 96,185,033 (GRCm39) |
V215I |
probably benign |
Het |
Tubgcp5 |
T |
A |
7: 55,467,140 (GRCm39) |
C703* |
probably null |
Het |
Vmn1r158 |
T |
C |
7: 22,490,116 (GRCm39) |
K31R |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfp2 |
A |
T |
11: 50,791,234 (GRCm39) |
C270S |
probably 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 |
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'- TGATTAGTAAGGCTGCGGGC -3'
(R):5'- TGGATAAGGCTCATCTCCTGG -3'
Sequencing Primer
(F):5'- TCTGAGAAGGTCTCCTCGTCCAG -3'
(R):5'- CTCATCTCCTGGAAAGTAGGAATGC -3'
|
Posted On |
2018-06-06 |