Incidental Mutation 'IGL02268:Synpo2'
ID |
287012 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Synpo2
|
Ensembl Gene |
ENSMUSG00000050315 |
Gene Name |
synaptopodin 2 |
Synonyms |
1110069I04Rik, 2310068J10Rik, 9530006G20Rik, myopodin, Myo |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02268
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
122870168-123029798 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 122910632 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 338
(P338S)
|
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 damaging
Transcript: ENSMUST00000106426
AA Change: P338S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102034 Gene: ENSMUSG00000050315 AA Change: P338S
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 damaging
Transcript: ENSMUST00000106427
AA Change: P338S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102035 Gene: ENSMUSG00000050315 AA Change: P338S
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: P338S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142508 Gene: ENSMUSG00000050315 AA Change: P338S
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057J18Rik |
C |
T |
10: 28,862,242 (GRCm39) |
C16Y |
probably benign |
Het |
Abca13 |
C |
T |
11: 9,240,626 (GRCm39) |
L830F |
probably benign |
Het |
Apcdd1 |
T |
C |
18: 63,083,259 (GRCm39) |
V363A |
probably damaging |
Het |
Atosb |
T |
A |
4: 43,036,468 (GRCm39) |
R88* |
probably null |
Het |
Cachd1 |
A |
G |
4: 100,809,294 (GRCm39) |
I260V |
possibly damaging |
Het |
Cass4 |
T |
A |
2: 172,268,962 (GRCm39) |
M350K |
possibly damaging |
Het |
Ccnjl |
A |
G |
11: 43,470,615 (GRCm39) |
T128A |
probably benign |
Het |
Cd6 |
C |
T |
19: 10,773,752 (GRCm39) |
G361D |
probably benign |
Het |
Cdh22 |
T |
C |
2: 164,965,639 (GRCm39) |
|
probably benign |
Het |
Ces2h |
T |
A |
8: 105,746,572 (GRCm39) |
F475Y |
probably benign |
Het |
Col15a1 |
A |
T |
4: 47,245,380 (GRCm39) |
T44S |
probably damaging |
Het |
Cplx3 |
C |
T |
9: 57,509,741 (GRCm39) |
E86K |
possibly damaging |
Het |
Crbn |
A |
G |
6: 106,772,004 (GRCm39) |
V100A |
possibly damaging |
Het |
D430041D05Rik |
C |
A |
2: 104,071,500 (GRCm39) |
V1267L |
possibly damaging |
Het |
Ecrg4 |
T |
A |
1: 43,770,111 (GRCm39) |
C23S |
probably damaging |
Het |
Elapor1 |
C |
A |
3: 108,375,113 (GRCm39) |
A585S |
probably benign |
Het |
F930017D23Rik |
A |
G |
10: 43,480,405 (GRCm39) |
|
noncoding transcript |
Het |
Fastkd3 |
A |
G |
13: 68,731,796 (GRCm39) |
D39G |
probably damaging |
Het |
Golgb1 |
T |
A |
16: 36,733,490 (GRCm39) |
S912R |
probably benign |
Het |
H2-T24 |
T |
C |
17: 36,328,264 (GRCm39) |
Y73C |
probably damaging |
Het |
Ifna9 |
A |
T |
4: 88,510,591 (GRCm39) |
L11* |
probably null |
Het |
Igsf10 |
A |
T |
3: 59,238,573 (GRCm39) |
L536* |
probably null |
Het |
Itprid1 |
A |
T |
6: 55,861,673 (GRCm39) |
|
probably benign |
Het |
Kcnma1 |
A |
T |
14: 23,593,144 (GRCm39) |
I215K |
probably damaging |
Het |
Kdm4c |
A |
C |
4: 74,291,953 (GRCm39) |
I857L |
possibly damaging |
Het |
Kptn |
A |
T |
7: 15,857,786 (GRCm39) |
H229L |
probably benign |
Het |
Krt32 |
A |
T |
11: 99,978,967 (GRCm39) |
M29K |
probably benign |
Het |
Lama2 |
A |
G |
10: 26,877,112 (GRCm39) |
|
probably benign |
Het |
Lpcat2b |
A |
C |
5: 107,581,982 (GRCm39) |
D437A |
probably damaging |
Het |
Lrrc8c |
T |
C |
5: 105,755,764 (GRCm39) |
L513P |
probably damaging |
Het |
Mon1a |
T |
C |
9: 107,778,997 (GRCm39) |
V407A |
possibly damaging |
Het |
Myo5c |
C |
T |
9: 75,153,519 (GRCm39) |
P135L |
probably damaging |
Het |
Myof |
C |
T |
19: 37,942,877 (GRCm39) |
V218M |
possibly damaging |
Het |
Myof |
T |
A |
19: 37,963,311 (GRCm39) |
I429F |
possibly damaging |
Het |
Nbas |
A |
G |
12: 13,455,398 (GRCm39) |
D1204G |
possibly damaging |
Het |
Nckap1 |
G |
A |
2: 80,358,962 (GRCm39) |
P560S |
probably benign |
Het |
Notch2 |
G |
A |
3: 98,044,713 (GRCm39) |
G1545D |
probably damaging |
Het |
Ntrk1 |
G |
A |
3: 87,688,838 (GRCm39) |
H572Y |
probably damaging |
Het |
Or2t44 |
T |
C |
11: 58,677,551 (GRCm39) |
F164L |
probably benign |
Het |
Or7e177 |
T |
C |
9: 20,211,588 (GRCm39) |
S31P |
probably damaging |
Het |
Pate8 |
T |
C |
9: 36,493,166 (GRCm39) |
Y52C |
possibly damaging |
Het |
Pcdh15 |
A |
T |
10: 74,178,504 (GRCm39) |
D587V |
probably damaging |
Het |
Pik3cb |
T |
C |
9: 98,928,609 (GRCm39) |
Y882C |
probably benign |
Het |
Plch1 |
T |
A |
3: 63,606,704 (GRCm39) |
*1074C |
probably null |
Het |
Plcxd1 |
T |
C |
5: 110,248,140 (GRCm39) |
|
probably benign |
Het |
Ppp2r2d |
A |
G |
7: 138,474,700 (GRCm39) |
N27S |
probably null |
Het |
Prkar2a |
A |
G |
9: 108,624,152 (GRCm39) |
M390V |
probably benign |
Het |
Rab3gap1 |
A |
G |
1: 127,796,695 (GRCm39) |
T18A |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,329,475 (GRCm39) |
|
probably benign |
Het |
Rasl12 |
T |
C |
9: 65,305,946 (GRCm39) |
S34P |
probably damaging |
Het |
Rpusd3 |
A |
T |
6: 113,395,818 (GRCm39) |
L65Q |
possibly damaging |
Het |
Rtf2 |
A |
G |
2: 172,310,639 (GRCm39) |
K290R |
probably damaging |
Het |
Rwdd4a |
T |
A |
8: 48,003,731 (GRCm39) |
L179* |
probably null |
Het |
Scgb1b24 |
A |
G |
7: 33,444,388 (GRCm39) |
E87G |
possibly damaging |
Het |
Sgo2a |
A |
G |
1: 58,056,881 (GRCm39) |
I1022V |
probably benign |
Het |
Smg1 |
A |
C |
7: 117,781,764 (GRCm39) |
I1174M |
probably benign |
Het |
Spata17 |
A |
T |
1: 186,872,595 (GRCm39) |
M72K |
probably damaging |
Het |
Tpi1 |
G |
A |
6: 124,791,087 (GRCm39) |
T50I |
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,867,362 (GRCm39) |
E354G |
probably damaging |
Het |
Uba2 |
A |
G |
7: 33,842,161 (GRCm39) |
|
probably null |
Het |
Wnk1 |
G |
A |
6: 119,914,334 (GRCm39) |
R1823* |
probably null |
Het |
Zfp248 |
A |
C |
6: 118,430,801 (GRCm39) |
|
probably benign |
Het |
Zfp51 |
A |
T |
17: 21,683,681 (GRCm39) |
K99* |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |