Incidental Mutation 'IGL02323:Synpo2'
ID |
288316 |
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 # |
IGL02323
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
122870168-123029798 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 122911183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 154
(E154G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102034
(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 benign
Transcript: ENSMUST00000106426
AA Change: E154G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102034 Gene: ENSMUSG00000050315 AA Change: E154G
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 benign
Transcript: ENSMUST00000106427
AA Change: E154G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102035 Gene: ENSMUSG00000050315 AA Change: E154G
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 benign
Transcript: ENSMUST00000198584
AA Change: E154G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142508 Gene: ENSMUSG00000050315 AA Change: E154G
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ache |
A |
G |
5: 137,289,326 (GRCm39) |
E344G |
probably damaging |
Het |
Actrt2 |
T |
C |
4: 154,751,255 (GRCm39) |
T294A |
probably benign |
Het |
Afg1l |
C |
A |
10: 42,330,506 (GRCm39) |
E54* |
probably null |
Het |
Ahi1 |
T |
C |
10: 20,847,933 (GRCm39) |
I447T |
probably damaging |
Het |
Akap6 |
T |
C |
12: 53,187,212 (GRCm39) |
I1542T |
probably benign |
Het |
Ankrd34c |
A |
C |
9: 89,612,033 (GRCm39) |
S103A |
possibly damaging |
Het |
Apc |
C |
T |
18: 34,448,863 (GRCm39) |
Q1886* |
probably null |
Het |
Bcas3 |
A |
G |
11: 85,386,671 (GRCm39) |
T148A |
probably damaging |
Het |
Bud13 |
A |
G |
9: 46,194,350 (GRCm39) |
T8A |
probably benign |
Het |
Casr |
A |
T |
16: 36,330,072 (GRCm39) |
Y421N |
probably damaging |
Het |
Ccdc121rt2 |
A |
G |
5: 112,597,600 (GRCm39) |
Y49C |
probably benign |
Het |
Clasp2 |
T |
C |
9: 113,697,794 (GRCm39) |
|
probably benign |
Het |
Clca4b |
T |
C |
3: 144,619,082 (GRCm39) |
T686A |
probably benign |
Het |
Cntln |
T |
A |
4: 84,968,026 (GRCm39) |
H748Q |
probably benign |
Het |
Dmtf1 |
A |
T |
5: 9,170,056 (GRCm39) |
D683E |
possibly damaging |
Het |
Dnmt3l |
A |
G |
10: 77,899,152 (GRCm39) |
K117R |
probably damaging |
Het |
Eif2a |
T |
C |
3: 58,456,024 (GRCm39) |
M341T |
possibly damaging |
Het |
Epg5 |
T |
A |
18: 78,056,047 (GRCm39) |
Y1740* |
probably null |
Het |
Fam149b |
C |
T |
14: 20,413,369 (GRCm39) |
T157I |
possibly damaging |
Het |
Fam89b |
A |
G |
19: 5,778,899 (GRCm39) |
|
probably null |
Het |
Fbxo3 |
T |
A |
2: 103,878,296 (GRCm39) |
N232K |
probably benign |
Het |
Gnl3 |
A |
C |
14: 30,739,359 (GRCm39) |
H16Q |
probably damaging |
Het |
Gpld1 |
T |
G |
13: 25,166,757 (GRCm39) |
V669G |
probably damaging |
Het |
Grik3 |
A |
G |
4: 125,579,783 (GRCm39) |
|
probably benign |
Het |
Gzmg |
A |
C |
14: 56,394,729 (GRCm39) |
Y180D |
probably benign |
Het |
H2-M9 |
A |
T |
17: 36,951,633 (GRCm39) |
Y281N |
probably damaging |
Het |
Katnip |
T |
A |
7: 125,442,001 (GRCm39) |
S637T |
probably benign |
Het |
Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
Mrs2 |
T |
A |
13: 25,188,940 (GRCm39) |
I125F |
probably damaging |
Het |
Nfam1 |
T |
A |
15: 82,907,152 (GRCm39) |
N15I |
probably benign |
Het |
Nol8 |
T |
A |
13: 49,808,721 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
G |
11: 58,899,348 (GRCm39) |
V6483A |
possibly damaging |
Het |
Or2a56 |
A |
T |
6: 42,932,917 (GRCm39) |
I162F |
probably benign |
Het |
Osbpl3 |
A |
G |
6: 50,323,306 (GRCm39) |
|
probably null |
Het |
Plaat3 |
G |
A |
19: 7,552,357 (GRCm39) |
W24* |
probably null |
Het |
Ppfibp2 |
A |
T |
7: 107,337,836 (GRCm39) |
Q652H |
probably damaging |
Het |
Rbm47 |
A |
G |
5: 66,183,772 (GRCm39) |
V277A |
probably damaging |
Het |
Robo3 |
G |
A |
9: 37,333,497 (GRCm39) |
A716V |
probably benign |
Het |
Scart1 |
G |
T |
7: 139,808,572 (GRCm39) |
A828S |
probably benign |
Het |
Semp2l1 |
A |
T |
1: 32,584,785 (GRCm39) |
L375* |
probably null |
Het |
Slc29a4 |
A |
G |
5: 142,703,407 (GRCm39) |
E227G |
probably damaging |
Het |
Slf1 |
T |
C |
13: 77,199,413 (GRCm39) |
D656G |
possibly damaging |
Het |
Sox1 |
A |
G |
8: 12,446,692 (GRCm39) |
H111R |
possibly damaging |
Het |
Spmip9 |
A |
G |
6: 70,890,679 (GRCm39) |
|
probably benign |
Het |
Svep1 |
G |
A |
4: 58,070,236 (GRCm39) |
Q2517* |
probably null |
Het |
Syndig1 |
G |
T |
2: 149,741,707 (GRCm39) |
V98L |
probably benign |
Het |
Tkt |
G |
A |
14: 30,292,992 (GRCm39) |
G490S |
possibly damaging |
Het |
Tmem200a |
T |
C |
10: 25,869,328 (GRCm39) |
N314D |
probably benign |
Het |
Tnfaip8l1 |
A |
T |
17: 56,479,009 (GRCm39) |
T100S |
probably damaging |
Het |
Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
Trim12c |
C |
T |
7: 103,997,473 (GRCm39) |
A28T |
probably benign |
Het |
Trpc7 |
C |
A |
13: 56,931,564 (GRCm39) |
V595L |
possibly damaging |
Het |
Ttc39c |
A |
G |
18: 12,869,800 (GRCm39) |
R575G |
probably null |
Het |
Ttn |
T |
G |
2: 76,681,919 (GRCm39) |
|
probably benign |
Het |
Ttn |
C |
T |
2: 76,553,609 (GRCm39) |
V31003M |
probably damaging |
Het |
Ugt2b37 |
A |
T |
5: 87,398,423 (GRCm39) |
|
probably benign |
Het |
Uqcrb |
A |
T |
13: 67,050,874 (GRCm39) |
|
probably benign |
Het |
Usp33 |
T |
A |
3: 152,076,024 (GRCm39) |
W415R |
probably benign |
Het |
Vmn2r110 |
A |
T |
17: 20,816,399 (GRCm39) |
D41E |
probably damaging |
Het |
Vmn2r98 |
A |
T |
17: 19,286,113 (GRCm39) |
I204F |
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 |
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 |