Incidental Mutation 'R5879:Synpo2'
ID |
455701 |
Institutional Source |
Beutler Lab
|
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 # |
R5879 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
122870168-123029798 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 122907946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 457
(W457R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142508
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051443]
[ENSMUST00000106426]
[ENSMUST00000106427]
[ENSMUST00000184590]
[ENSMUST00000198584]
|
AlphaFold |
Q91YE8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051443
AA Change: W127R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051570 Gene: ENSMUSG00000050315 AA Change: W127R
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: W457R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102034 Gene: ENSMUSG00000050315 AA Change: W457R
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: W457R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102035 Gene: ENSMUSG00000050315 AA Change: W457R
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: W457R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142508 Gene: ENSMUSG00000050315 AA Change: W457R
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: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh16a1 |
C |
T |
7: 44,796,930 (GRCm39) |
W66* |
probably null |
Het |
Arhgap39 |
T |
C |
15: 76,636,007 (GRCm39) |
D76G |
probably damaging |
Het |
Arhgef2 |
G |
A |
3: 88,550,924 (GRCm39) |
|
probably null |
Het |
C1qtnf2 |
T |
C |
11: 43,376,835 (GRCm39) |
M99T |
probably damaging |
Het |
Cyren |
A |
G |
6: 34,851,593 (GRCm39) |
L87P |
probably damaging |
Het |
Eml3 |
G |
A |
19: 8,912,379 (GRCm39) |
C392Y |
possibly damaging |
Het |
Ephb4 |
C |
A |
5: 137,358,678 (GRCm39) |
P287Q |
probably benign |
Het |
Fat4 |
G |
T |
3: 38,941,485 (GRCm39) |
R126L |
probably benign |
Het |
Flt3 |
T |
C |
5: 147,271,719 (GRCm39) |
M858V |
probably damaging |
Het |
Gprin3 |
A |
C |
6: 59,331,698 (GRCm39) |
I203R |
probably benign |
Het |
Insr |
G |
T |
8: 3,248,173 (GRCm39) |
Y457* |
probably null |
Het |
Ipo13 |
G |
A |
4: 117,760,400 (GRCm39) |
T649I |
possibly damaging |
Het |
Krba1 |
A |
G |
6: 48,392,678 (GRCm39) |
D818G |
possibly damaging |
Het |
Llgl1 |
G |
A |
11: 60,603,806 (GRCm39) |
G1016R |
probably benign |
Het |
Loxl4 |
A |
G |
19: 42,596,066 (GRCm39) |
V142A |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,340,992 (GRCm39) |
I464V |
probably benign |
Het |
Mycs |
C |
A |
X: 5,380,131 (GRCm39) |
K316N |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,103,839 (GRCm39) |
|
probably benign |
Het |
Nlrc3 |
A |
G |
16: 3,781,909 (GRCm39) |
F516S |
probably damaging |
Het |
Oacyl |
A |
G |
18: 65,882,743 (GRCm39) |
S540G |
probably damaging |
Het |
Olfml2a |
A |
T |
2: 38,850,242 (GRCm39) |
T653S |
probably damaging |
Het |
Or8s16 |
C |
T |
15: 98,211,369 (GRCm39) |
V21I |
probably benign |
Het |
Pcnx2 |
A |
T |
8: 126,500,685 (GRCm39) |
N1468K |
probably damaging |
Het |
Plbd1 |
A |
G |
6: 136,611,503 (GRCm39) |
I258T |
probably damaging |
Het |
Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
Pramel21 |
A |
T |
4: 143,344,161 (GRCm39) |
Y487F |
possibly damaging |
Het |
Prop1 |
C |
T |
11: 50,844,153 (GRCm39) |
V27M |
probably damaging |
Het |
Rfx4 |
T |
G |
10: 84,650,625 (GRCm39) |
|
probably null |
Het |
Rgs11 |
C |
T |
17: 26,422,437 (GRCm39) |
|
probably benign |
Het |
Slc6a5 |
T |
A |
7: 49,595,260 (GRCm39) |
F541I |
probably damaging |
Het |
Srgap3 |
A |
T |
6: 112,699,807 (GRCm39) |
V1057E |
possibly damaging |
Het |
Tet2 |
T |
A |
3: 133,193,721 (GRCm39) |
N238Y |
possibly damaging |
Het |
Tiam2 |
T |
A |
17: 3,487,540 (GRCm39) |
M687K |
probably damaging |
Het |
Ticrr |
A |
G |
7: 79,346,438 (GRCm39) |
E1866G |
probably benign |
Het |
Tspan8 |
T |
C |
10: 115,669,156 (GRCm39) |
S64P |
possibly damaging |
Het |
Ugt2b37 |
C |
T |
5: 87,402,265 (GRCm39) |
G122D |
probably benign |
Het |
Uqcrc2 |
A |
G |
7: 120,237,111 (GRCm39) |
E53G |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,852,071 (GRCm39) |
D963G |
probably damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,764,226 (GRCm39) |
Y368N |
possibly damaging |
Het |
Wdr5 |
A |
G |
2: 27,418,323 (GRCm39) |
T208A |
probably benign |
Het |
Zbtb18 |
A |
G |
1: 177,275,936 (GRCm39) |
Y423C |
probably damaging |
Het |
Zc3h6 |
A |
G |
2: 128,839,696 (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 |
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 |
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'- ACCGATTCTTCTTTTCGCTGATAAG -3'
(R):5'- TTACGGTACTGGCGAGCTTG -3'
Sequencing Primer
(F):5'- GAAGTCATGGTTCTCAGACCATC -3'
(R):5'- GCTTGAGCGAGAGGAGGAG -3'
|
Posted On |
2017-02-10 |