Incidental Mutation 'R0086:Synpo2'
| ID |
19884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synpo2
|
| Ensembl Gene |
ENSMUSG00000050315 |
| Gene Name |
synaptopodin 2 |
| Synonyms |
1110069I04Rik, 2310068J10Rik, 9530006G20Rik, myopodin, Myo |
| MMRRC Submission |
038373-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
122870168-123029798 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 122910753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 297
(C297*)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000051570
Gene: ENSMUSG00000050315
| 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 |
probably null
Transcript: ENSMUST00000106426
AA Change: C297*
|
| SMART Domains |
Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: C297*
| 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 |
probably null
Transcript: ENSMUST00000106427
AA Change: C297*
|
| SMART Domains |
Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: C297*
| 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 null
Transcript: ENSMUST00000198584
AA Change: C297*
|
| SMART Domains |
Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: C297*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.0%
- 10x: 94.6%
- 20x: 86.6%
|
| Validation Efficiency |
96% (91/95) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
A |
15: 81,946,802 (GRCm39) |
V233D |
probably benign |
Het |
| Abcg8 |
T |
C |
17: 85,000,199 (GRCm39) |
V252A |
probably damaging |
Het |
| Adam39 |
C |
T |
8: 41,279,397 (GRCm39) |
T596I |
possibly damaging |
Het |
| Agap2 |
C |
A |
10: 126,923,751 (GRCm39) |
|
probably null |
Het |
| Ap4b1 |
T |
G |
3: 103,722,176 (GRCm39) |
V50G |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,250,424 (GRCm39) |
I381N |
possibly damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,900,161 (GRCm39) |
V1113A |
possibly damaging |
Het |
| C1galt1 |
T |
A |
6: 7,867,051 (GRCm39) |
|
probably benign |
Het |
| Capza2 |
A |
G |
6: 17,660,773 (GRCm39) |
K158E |
probably damaging |
Het |
| Cenpe |
C |
T |
3: 134,970,185 (GRCm39) |
|
probably benign |
Het |
| Cercam |
T |
C |
2: 29,761,076 (GRCm39) |
L42P |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,864,456 (GRCm39) |
E807G |
possibly damaging |
Het |
| Cog6 |
A |
G |
3: 52,900,991 (GRCm39) |
V157A |
probably damaging |
Het |
| Cts6 |
A |
T |
13: 61,344,271 (GRCm39) |
|
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,499,357 (GRCm39) |
I15F |
unknown |
Het |
| Dock7 |
A |
T |
4: 98,833,381 (GRCm39) |
V1970D |
probably damaging |
Het |
| Exph5 |
A |
G |
9: 53,249,230 (GRCm39) |
D73G |
possibly damaging |
Het |
| Gjc2 |
A |
T |
11: 59,067,672 (GRCm39) |
M270K |
probably benign |
Het |
| Gns |
G |
A |
10: 121,227,378 (GRCm39) |
D463N |
probably damaging |
Het |
| Hoxd8 |
G |
T |
2: 74,536,276 (GRCm39) |
G129W |
probably damaging |
Het |
| Ina |
A |
G |
19: 47,012,030 (GRCm39) |
T483A |
possibly damaging |
Het |
| Lmod3 |
T |
A |
6: 97,224,306 (GRCm39) |
Q505L |
probably damaging |
Het |
| Map3k13 |
A |
G |
16: 21,732,975 (GRCm39) |
N526D |
probably damaging |
Het |
| Map3k2 |
A |
T |
18: 32,351,521 (GRCm39) |
I435F |
probably damaging |
Het |
| Mfsd6l |
A |
G |
11: 68,447,391 (GRCm39) |
T81A |
probably benign |
Het |
| Micall1 |
T |
C |
15: 79,009,689 (GRCm39) |
|
probably benign |
Het |
| Mkrn2 |
G |
T |
6: 115,590,296 (GRCm39) |
M217I |
possibly damaging |
Het |
| Mtrex |
G |
T |
13: 113,063,862 (GRCm39) |
F10L |
probably benign |
Het |
| Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,834,086 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
G |
A |
7: 26,257,972 (GRCm39) |
C530Y |
probably damaging |
Het |
| Numb |
T |
C |
12: 83,842,704 (GRCm39) |
T442A |
probably damaging |
Het |
| Oip5 |
C |
T |
2: 119,448,410 (GRCm39) |
|
probably benign |
Het |
| Or1j14 |
A |
T |
2: 36,417,462 (GRCm39) |
I13F |
possibly damaging |
Het |
| Or4c119 |
C |
T |
2: 88,986,820 (GRCm39) |
R233H |
probably benign |
Het |
| Or51k1 |
A |
G |
7: 103,661,261 (GRCm39) |
I216T |
probably benign |
Het |
| Or8g22 |
T |
C |
9: 38,958,191 (GRCm39) |
T175A |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,038,832 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,419,404 (GRCm39) |
N2956K |
possibly damaging |
Het |
| Plcl1 |
T |
A |
1: 55,754,742 (GRCm39) |
W1030R |
probably damaging |
Het |
| Polr2i |
G |
A |
7: 29,932,511 (GRCm39) |
V73M |
probably damaging |
Het |
| Prr14l |
T |
A |
5: 32,988,903 (GRCm39) |
|
probably benign |
Het |
| Pxdn |
G |
T |
12: 30,052,418 (GRCm39) |
R865L |
possibly damaging |
Het |
| Scnn1a |
T |
C |
6: 125,319,550 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
G |
T |
7: 27,051,451 (GRCm39) |
H203N |
probably benign |
Het |
| Slc22a14 |
C |
T |
9: 119,051,804 (GRCm39) |
|
probably benign |
Het |
| Snap29 |
C |
A |
16: 17,246,100 (GRCm39) |
T240K |
probably damaging |
Het |
| Sp2 |
C |
A |
11: 96,848,253 (GRCm39) |
G457C |
probably damaging |
Het |
| Ssr2 |
C |
T |
3: 88,484,187 (GRCm39) |
|
probably benign |
Het |
| Tpm3 |
T |
A |
3: 89,997,399 (GRCm39) |
|
probably benign |
Het |
| Trmt6 |
CTG |
C |
2: 132,650,937 (GRCm39) |
|
probably benign |
Het |
| Trp63 |
T |
C |
16: 25,689,837 (GRCm39) |
Y431H |
probably damaging |
Het |
| Tuba3b |
T |
A |
6: 145,566,886 (GRCm39) |
C376S |
probably damaging |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Ulk1 |
G |
A |
5: 110,935,573 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,249,557 (GRCm39) |
S1425P |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,191,433 (GRCm39) |
I1335V |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,355,058 (GRCm39) |
Y352H |
probably damaging |
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 |
|
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 |
|
R1587:Synpo2
|
UTSW |
3 |
122,908,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- GCGTGGAAACCTTGTTAAAGGCACC -3'
(R):5'- ATCCCTGCTCCTGAGAAAGCAGAC -3'
Sequencing Primer
(F):5'- AACAGTTCCTGCATCTTTGGG -3'
(R):5'- AGCAGACACTTCTCTGACG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation