Incidental Mutation 'R7318:Synpo2'
ID |
565632 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synpo2
|
Ensembl Gene |
ENSMUSG00000050315 |
Gene Name |
synaptopodin 2 |
Synonyms |
1110069I04Rik, 2310068J10Rik, 9530006G20Rik, myopodin, Myo |
MMRRC Submission |
045414-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7318 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
122870168-123029798 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 122910968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 226
(S226G)
|
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: S226G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102034 Gene: ENSMUSG00000050315 AA Change: S226G
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: S226G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102035 Gene: ENSMUSG00000050315 AA Change: S226G
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: S226G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142508 Gene: ENSMUSG00000050315 AA Change: S226G
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
C |
7: 40,643,111 (GRCm39) |
L260S |
probably benign |
Het |
9130230L23Rik |
A |
T |
5: 66,145,771 (GRCm39) |
S113R |
unknown |
Het |
Abcc5 |
G |
A |
16: 20,211,293 (GRCm39) |
P557S |
probably benign |
Het |
Acad11 |
A |
G |
9: 103,958,466 (GRCm39) |
T245A |
probably damaging |
Het |
Acap2 |
A |
G |
16: 30,946,155 (GRCm39) |
F263L |
probably damaging |
Het |
Ankle2 |
A |
T |
5: 110,385,632 (GRCm39) |
N327I |
probably benign |
Het |
Appl1 |
T |
C |
14: 26,685,617 (GRCm39) |
E67G |
probably benign |
Het |
Arfgef3 |
A |
T |
10: 18,506,211 (GRCm39) |
C864S |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,751,802 (GRCm39) |
I418V |
probably benign |
Het |
Arhgef2 |
A |
T |
3: 88,539,610 (GRCm39) |
N102Y |
probably damaging |
Het |
Car9 |
G |
T |
4: 43,513,089 (GRCm39) |
E431D |
probably damaging |
Het |
Cbfa2t2 |
T |
C |
2: 154,342,374 (GRCm39) |
I30T |
probably benign |
Het |
Cd40 |
A |
T |
2: 164,904,255 (GRCm39) |
D34V |
possibly damaging |
Het |
Chrnb2 |
T |
A |
3: 89,670,674 (GRCm39) |
|
probably null |
Het |
Chsy1 |
T |
G |
7: 65,759,977 (GRCm39) |
|
probably null |
Het |
Cpne6 |
A |
G |
14: 55,751,751 (GRCm39) |
T245A |
possibly damaging |
Het |
Cpsf1 |
T |
A |
15: 76,481,475 (GRCm39) |
K1159* |
probably null |
Het |
Crisp1 |
T |
A |
17: 40,618,668 (GRCm39) |
E64D |
possibly damaging |
Het |
D3Ertd751e |
A |
G |
3: 41,756,986 (GRCm39) |
|
probably null |
Het |
Dennd11 |
A |
G |
6: 40,386,098 (GRCm39) |
V333A |
possibly damaging |
Het |
Dnah7b |
T |
A |
1: 46,234,532 (GRCm39) |
L1488Q |
probably damaging |
Het |
Dnm2 |
G |
A |
9: 21,416,863 (GRCm39) |
G799R |
possibly damaging |
Het |
Elp2 |
G |
A |
18: 24,739,956 (GRCm39) |
V61I |
probably damaging |
Het |
Epb41l3 |
T |
C |
17: 69,573,135 (GRCm39) |
L388P |
|
Het |
Fry |
A |
T |
5: 150,360,458 (GRCm39) |
S2035C |
probably damaging |
Het |
Gas8 |
T |
C |
8: 124,257,707 (GRCm39) |
F385L |
probably benign |
Het |
Ghsr |
T |
C |
3: 27,426,616 (GRCm39) |
V224A |
possibly damaging |
Het |
Gstp2 |
T |
A |
19: 4,091,065 (GRCm39) |
R85W |
probably benign |
Het |
Ighv1-20 |
T |
A |
12: 114,687,810 (GRCm39) |
I6F |
possibly damaging |
Het |
Inpp4b |
T |
A |
8: 82,798,374 (GRCm39) |
M854K |
probably damaging |
Het |
Kif15 |
A |
G |
9: 122,817,014 (GRCm39) |
E538G |
probably damaging |
Het |
Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
Lmo3 |
T |
A |
6: 138,398,363 (GRCm39) |
|
probably benign |
Het |
Lyg1 |
G |
A |
1: 37,988,936 (GRCm39) |
P95S |
probably benign |
Het |
Lyst |
A |
G |
13: 13,932,028 (GRCm39) |
H3552R |
probably benign |
Het |
Mtif2 |
C |
T |
11: 29,490,115 (GRCm39) |
S385L |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,575,710 (GRCm39) |
I1737F |
unknown |
Het |
Mug1 |
T |
C |
6: 121,847,611 (GRCm39) |
|
probably null |
Het |
Mx1 |
G |
T |
16: 97,253,286 (GRCm39) |
Q350K |
probably benign |
Het |
Mylk3 |
G |
T |
8: 86,085,726 (GRCm39) |
D269E |
probably benign |
Het |
Myo3a |
A |
T |
2: 22,448,332 (GRCm39) |
K974* |
probably null |
Het |
Nectin4 |
G |
T |
1: 171,208,031 (GRCm39) |
R141L |
probably benign |
Het |
Nlgn2 |
T |
C |
11: 69,716,795 (GRCm39) |
H582R |
probably damaging |
Het |
Or51ab3 |
T |
A |
7: 103,201,298 (GRCm39) |
M102K |
probably damaging |
Het |
Or51e1 |
T |
A |
7: 102,359,226 (GRCm39) |
Y253* |
probably null |
Het |
Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
Psmd11 |
C |
A |
11: 80,347,128 (GRCm39) |
L171I |
probably benign |
Het |
Rad54l |
A |
G |
4: 115,967,906 (GRCm39) |
V152A |
possibly damaging |
Het |
Ranbp2 |
T |
A |
10: 58,318,909 (GRCm39) |
Y2473* |
probably null |
Het |
Sertad1 |
T |
C |
7: 27,188,910 (GRCm39) |
I77T |
possibly damaging |
Het |
Sesn3 |
A |
T |
9: 14,219,873 (GRCm39) |
E87D |
probably damaging |
Het |
Slc30a5 |
A |
T |
13: 100,950,477 (GRCm39) |
S260R |
probably benign |
Het |
Slc6a12 |
G |
A |
6: 121,328,972 (GRCm39) |
G111S |
probably damaging |
Het |
Slc6a12 |
T |
C |
6: 121,328,978 (GRCm39) |
Y113H |
probably benign |
Het |
Spag17 |
T |
G |
3: 99,847,299 (GRCm39) |
M76R |
probably benign |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
Stard13 |
G |
A |
5: 150,986,038 (GRCm39) |
Q491* |
probably null |
Het |
Tada2b |
G |
A |
5: 36,641,331 (GRCm39) |
T24I |
probably benign |
Het |
Tafa1 |
T |
C |
6: 96,092,737 (GRCm39) |
|
probably null |
Het |
Tmem51 |
TCCCC |
TCCC |
4: 141,764,996 (GRCm39) |
|
probably null |
Het |
Tnnt1 |
T |
A |
7: 4,513,547 (GRCm39) |
|
probably null |
Het |
Usp17lb |
T |
C |
7: 104,490,340 (GRCm39) |
I196V |
probably benign |
Het |
Utp20 |
T |
A |
10: 88,649,811 (GRCm39) |
K466N |
possibly damaging |
Het |
Wdr46 |
T |
C |
17: 34,160,859 (GRCm39) |
|
probably null |
Het |
Zfp287 |
T |
A |
11: 62,605,104 (GRCm39) |
Q601L |
probably damaging |
Het |
Zfp410 |
T |
C |
12: 84,372,464 (GRCm39) |
S97P |
probably benign |
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 |
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 |
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'- GAGAAGGAGGTGCTTCTGAC -3'
(R):5'- CCAGGAAGGACACTTGGTAG -3'
Sequencing Primer
(F):5'- TCAGCCTTCAGCCTGTCAGAG -3'
(R):5'- ACACTTGGTAGAAGAGGTCATC -3'
|
Posted On |
2019-06-26 |