Incidental Mutation 'R1587:Synpo2'
| ID |
177551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synpo2
|
| Ensembl Gene |
ENSMUSG00000050315 |
| Gene Name |
synaptopodin 2 |
| Synonyms |
1110069I04Rik, 2310068J10Rik, 9530006G20Rik, myopodin, Myo |
| MMRRC Submission |
039624-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1587 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
122870168-123029798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122908047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 423
(D423V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051443]
[ENSMUST00000106426]
[ENSMUST00000106427]
[ENSMUST00000184590]
[ENSMUST00000198584]
|
| AlphaFold |
Q91YE8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051443
AA Change: D93V
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000051570
Gene: ENSMUSG00000050315
AA Change: D93V
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
15 |
88 |
6.51e-14 |
SMART |
|
low complexity region
|
339 |
357 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
377 |
398 |
1.92e-5 |
PROSPERO |
|
low complexity region
|
406 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
448 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
477 |
503 |
1.04e-7 |
PROSPERO |
|
internal_repeat_2
|
478 |
499 |
1.92e-5 |
PROSPERO |
|
low complexity region
|
534 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
854 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
858 |
884 |
1.04e-7 |
PROSPERO |
|
low complexity region
|
941 |
950 |
N/A |
INTRINSIC |
|
low complexity region
|
1034 |
1051 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106426
AA Change: D423V
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: D423V
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
15 |
88 |
6.51e-14 |
SMART |
|
low complexity region
|
339 |
357 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
377 |
398 |
4.61e-5 |
PROSPERO |
|
low complexity region
|
406 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
448 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
477 |
503 |
2.92e-7 |
PROSPERO |
|
internal_repeat_2
|
478 |
499 |
4.61e-5 |
PROSPERO |
|
low complexity region
|
534 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
854 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
858 |
884 |
2.92e-7 |
PROSPERO |
|
low complexity region
|
941 |
950 |
N/A |
INTRINSIC |
|
low complexity region
|
1034 |
1051 |
N/A |
INTRINSIC |
|
low complexity region
|
1196 |
1211 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106427
AA Change: D423V
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: D423V
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
15 |
88 |
6.51e-14 |
SMART |
|
low complexity region
|
339 |
357 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
377 |
398 |
6.19e-5 |
PROSPERO |
|
low complexity region
|
406 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
448 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
477 |
503 |
4.33e-7 |
PROSPERO |
|
internal_repeat_2
|
478 |
499 |
6.19e-5 |
PROSPERO |
|
low complexity region
|
534 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
854 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
858 |
884 |
4.33e-7 |
PROSPERO |
|
low complexity region
|
941 |
950 |
N/A |
INTRINSIC |
|
low complexity region
|
1137 |
1152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139160
|
| SMART Domains |
Protein: ENSMUSP00000123396
Gene: ENSMUSG00000050315
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
155 |
170 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184590
|
| SMART Domains |
Protein: ENSMUSP00000142426
Gene: ENSMUSG00000050315
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
158 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198584
AA Change: D423V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: D423V
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
15 |
88 |
6.51e-14 |
SMART |
|
low complexity region
|
339 |
357 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
377 |
398 |
1.92e-5 |
PROSPERO |
|
low complexity region
|
406 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
448 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
477 |
503 |
1.04e-7 |
PROSPERO |
|
internal_repeat_2
|
478 |
499 |
1.92e-5 |
PROSPERO |
|
low complexity region
|
534 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
854 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
858 |
884 |
1.04e-7 |
PROSPERO |
|
low complexity region
|
941 |
950 |
N/A |
INTRINSIC |
|
low complexity region
|
1034 |
1051 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,473,585 (GRCm39) |
S111T |
probably benign |
Het |
| Abhd2 |
A |
T |
7: 79,003,758 (GRCm39) |
H279L |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,071,979 (GRCm39) |
M1I |
probably null |
Het |
| Agrn |
T |
C |
4: 156,263,897 (GRCm39) |
Q122R |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,230,184 (GRCm39) |
F1218I |
probably damaging |
Het |
| Bud13 |
C |
T |
9: 46,201,513 (GRCm39) |
P395S |
probably damaging |
Het |
| Ccdc110 |
G |
A |
8: 46,394,783 (GRCm39) |
V225M |
probably benign |
Het |
| Ccdc30 |
A |
T |
4: 119,210,373 (GRCm39) |
S248T |
probably damaging |
Het |
| Cdh20 |
C |
A |
1: 110,027,757 (GRCm39) |
Q501K |
probably damaging |
Het |
| Cwc27 |
T |
C |
13: 104,929,145 (GRCm39) |
D266G |
probably benign |
Het |
| Cyp2d40 |
T |
A |
15: 82,645,334 (GRCm39) |
|
probably null |
Het |
| Cyp4a32 |
T |
G |
4: 115,467,731 (GRCm39) |
N238K |
probably benign |
Het |
| Ddx11 |
T |
C |
17: 66,456,251 (GRCm39) |
L770P |
probably damaging |
Het |
| Dgcr8 |
C |
T |
16: 18,098,155 (GRCm39) |
G412E |
probably damaging |
Het |
| Disp2 |
C |
A |
2: 118,622,064 (GRCm39) |
A932D |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,922,572 (GRCm39) |
N291K |
possibly damaging |
Het |
| Dnajc7 |
A |
G |
11: 100,492,556 (GRCm39) |
I39T |
probably damaging |
Het |
| Elp1 |
G |
A |
4: 56,786,666 (GRCm39) |
Q426* |
probably null |
Het |
| Eno3 |
T |
C |
11: 70,552,296 (GRCm39) |
V316A |
probably damaging |
Het |
| Ep400 |
G |
A |
5: 110,874,768 (GRCm39) |
T944I |
probably benign |
Het |
| Ezh2 |
T |
G |
6: 47,529,424 (GRCm39) |
|
probably null |
Het |
| F7 |
A |
T |
8: 13,084,783 (GRCm39) |
I270F |
possibly damaging |
Het |
| Fancc |
A |
G |
13: 63,488,246 (GRCm39) |
F245L |
probably benign |
Het |
| Fzd7 |
G |
A |
1: 59,522,165 (GRCm39) |
C16Y |
possibly damaging |
Het |
| Gm29394 |
A |
G |
15: 57,892,008 (GRCm39) |
*200Q |
probably null |
Het |
| Ints8 |
A |
G |
4: 11,245,722 (GRCm39) |
|
probably null |
Het |
| Krt36 |
A |
T |
11: 99,993,128 (GRCm39) |
I449N |
probably damaging |
Het |
| Ldlr |
A |
T |
9: 21,649,209 (GRCm39) |
H328L |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,303,455 (GRCm39) |
N101S |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,306,650 (GRCm39) |
N321S |
probably benign |
Het |
| Mafk |
T |
C |
5: 139,785,900 (GRCm39) |
S33P |
probably damaging |
Het |
| Mbtps1 |
T |
C |
8: 120,244,958 (GRCm39) |
Y831C |
probably damaging |
Het |
| Mfge8 |
T |
A |
7: 78,784,513 (GRCm39) |
I344F |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,867,061 (GRCm39) |
V1430A |
probably benign |
Het |
| Nbas |
G |
A |
12: 13,608,686 (GRCm39) |
R2154H |
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,502,959 (GRCm39) |
R355H |
probably damaging |
Het |
| Noc4l |
T |
C |
5: 110,800,889 (GRCm39) |
T76A |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,202,763 (GRCm39) |
C583S |
probably damaging |
Het |
| Or2w4 |
C |
T |
13: 21,796,083 (GRCm39) |
D19N |
probably benign |
Het |
| Or5d35 |
T |
A |
2: 87,855,477 (GRCm39) |
M137K |
probably damaging |
Het |
| Pgm5 |
T |
A |
19: 24,793,113 (GRCm39) |
I318F |
probably damaging |
Het |
| Phf1 |
T |
A |
17: 27,156,466 (GRCm39) |
V536D |
probably damaging |
Het |
| Prpf4b |
C |
A |
13: 35,076,133 (GRCm39) |
A641D |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,182,334 (GRCm39) |
I433T |
probably benign |
Het |
| Resf1 |
G |
T |
6: 149,228,018 (GRCm39) |
V355F |
probably damaging |
Het |
| S100a3 |
G |
A |
3: 90,509,618 (GRCm39) |
E88K |
probably benign |
Het |
| Sesn1 |
A |
G |
10: 41,687,108 (GRCm39) |
I31V |
probably benign |
Het |
| Son |
T |
A |
16: 91,456,606 (GRCm39) |
S1784R |
probably damaging |
Het |
| Srbd1 |
G |
T |
17: 86,292,865 (GRCm39) |
D901E |
probably damaging |
Het |
| St8sia6 |
C |
T |
2: 13,677,416 (GRCm39) |
D134N |
possibly damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,692,383 (GRCm39) |
S158P |
probably damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,002 (GRCm39) |
V785E |
probably damaging |
Het |
| Zfp143 |
A |
G |
7: 109,673,275 (GRCm39) |
D124G |
probably benign |
Het |
| Zfp251 |
A |
G |
15: 76,754,484 (GRCm39) |
L54P |
probably damaging |
Het |
| Zfp324 |
G |
T |
7: 12,704,570 (GRCm39) |
S253I |
possibly damaging |
Het |
| Zfp59 |
A |
G |
7: 27,553,559 (GRCm39) |
E337G |
possibly damaging |
Het |
| Zfp663 |
G |
T |
2: 165,195,437 (GRCm39) |
Q261K |
probably benign |
Het |
| Zhx3 |
T |
C |
2: 160,623,613 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Synpo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Synpo2
|
APN |
3 |
122,906,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00742:Synpo2
|
APN |
3 |
122,907,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01890:Synpo2
|
APN |
3 |
122,906,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02268:Synpo2
|
APN |
3 |
122,910,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02323:Synpo2
|
APN |
3 |
122,911,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02745:Synpo2
|
APN |
3 |
122,907,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03001:Synpo2
|
APN |
3 |
122,873,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03177:Synpo2
|
APN |
3 |
122,914,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03336:Synpo2
|
APN |
3 |
122,907,828 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0086:Synpo2
|
UTSW |
3 |
122,910,753 (GRCm39) |
nonsense |
probably null |
|
|
R0126:Synpo2
|
UTSW |
3 |
122,873,511 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0227:Synpo2
|
UTSW |
3 |
122,907,442 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0284:Synpo2
|
UTSW |
3 |
122,873,383 (GRCm39) |
nonsense |
probably null |
|
|
R0388:Synpo2
|
UTSW |
3 |
122,873,546 (GRCm39) |
missense |
probably benign |
|
|
R0457:Synpo2
|
UTSW |
3 |
122,906,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:Synpo2
|
UTSW |
3 |
122,907,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0615:Synpo2
|
UTSW |
3 |
122,910,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Synpo2
|
UTSW |
3 |
122,908,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0666:Synpo2
|
UTSW |
3 |
122,907,708 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0743:Synpo2
|
UTSW |
3 |
122,906,355 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0791:Synpo2
|
UTSW |
3 |
122,906,835 (GRCm39) |
missense |
probably benign |
|
|
R1531:Synpo2
|
UTSW |
3 |
122,911,315 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1717:Synpo2
|
UTSW |
3 |
122,906,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1807:Synpo2
|
UTSW |
3 |
122,873,906 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2114:Synpo2
|
UTSW |
3 |
122,873,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2987:Synpo2
|
UTSW |
3 |
122,910,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3019:Synpo2
|
UTSW |
3 |
122,907,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3939:Synpo2
|
UTSW |
3 |
122,908,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4050:Synpo2
|
UTSW |
3 |
122,907,927 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4119:Synpo2
|
UTSW |
3 |
122,910,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Synpo2
|
UTSW |
3 |
122,906,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Synpo2
|
UTSW |
3 |
122,907,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Synpo2
|
UTSW |
3 |
122,908,068 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5152:Synpo2
|
UTSW |
3 |
123,029,550 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5292:Synpo2
|
UTSW |
3 |
122,907,709 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5396:Synpo2
|
UTSW |
3 |
122,911,331 (GRCm39) |
nonsense |
probably null |
|
|
R5701:Synpo2
|
UTSW |
3 |
122,873,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5712:Synpo2
|
UTSW |
3 |
122,914,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5730:Synpo2
|
UTSW |
3 |
122,907,768 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5879:Synpo2
|
UTSW |
3 |
122,907,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Synpo2
|
UTSW |
3 |
122,911,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6290:Synpo2
|
UTSW |
3 |
122,910,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6384:Synpo2
|
UTSW |
3 |
122,906,698 (GRCm39) |
nonsense |
probably null |
|
|
R6498:Synpo2
|
UTSW |
3 |
122,873,881 (GRCm39) |
splice site |
probably null |
|
|
R7123:Synpo2
|
UTSW |
3 |
122,906,835 (GRCm39) |
missense |
probably benign |
|
|
R7153:Synpo2
|
UTSW |
3 |
122,906,053 (GRCm39) |
makesense |
probably null |
|
|
R7233:Synpo2
|
UTSW |
3 |
122,911,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7301:Synpo2
|
UTSW |
3 |
122,907,702 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7318:Synpo2
|
UTSW |
3 |
122,910,968 (GRCm39) |
missense |
probably benign |
|
|
R7366:Synpo2
|
UTSW |
3 |
122,907,690 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7630:Synpo2
|
UTSW |
3 |
122,873,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7962:Synpo2
|
UTSW |
3 |
123,029,635 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8068:Synpo2
|
UTSW |
3 |
122,911,041 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8335:Synpo2
|
UTSW |
3 |
122,908,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9066:Synpo2
|
UTSW |
3 |
122,911,133 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9269:Synpo2
|
UTSW |
3 |
122,910,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9318:Synpo2
|
UTSW |
3 |
122,873,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9623:Synpo2
|
UTSW |
3 |
122,908,047 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9685:Synpo2
|
UTSW |
3 |
122,911,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Synpo2
|
UTSW |
3 |
122,906,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCATCTGGAAGGAACTTTCGCTC -3'
(R):5'- TCTAAGTGCAAAAGCATCGCCCTC -3'
Sequencing Primer
(F):5'- CTCTTGGCAAACATGAGCG -3'
(R):5'- GCCCTCCTCCTAACGGATG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation