Incidental Mutation 'R6290:Synpo2'
| ID |
508345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synpo2
|
| Ensembl Gene |
ENSMUSG00000050315 |
| Gene Name |
synaptopodin 2 |
| Synonyms |
1110069I04Rik, 2310068J10Rik, 9530006G20Rik, myopodin, Myo |
| MMRRC Submission |
044460-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
122870168-123029798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122910701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 315
(S315T)
|
| 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 damaging
Transcript: ENSMUST00000106426
AA Change: S315T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: S315T
| 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 |
possibly damaging
Transcript: ENSMUST00000106427
AA Change: S315T
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: S315T
| 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 |
possibly damaging
Transcript: ENSMUST00000198584
AA Change: S315T
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: S315T
| 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: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
T |
A |
1: 173,289,681 (GRCm39) |
I208N |
possibly damaging |
Het |
| Albfm1 |
T |
C |
5: 90,740,864 (GRCm39) |
|
probably null |
Het |
| Ank3 |
A |
C |
10: 69,827,198 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,259,036 (GRCm39) |
E687G |
possibly damaging |
Het |
| Ash1l |
T |
A |
3: 88,890,068 (GRCm39) |
L649* |
probably null |
Het |
| Atp7b |
C |
T |
8: 22,510,836 (GRCm39) |
G437S |
probably damaging |
Het |
| Cep89 |
G |
A |
7: 35,119,688 (GRCm39) |
G349D |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,744,851 (GRCm39) |
Y315N |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,456,492 (GRCm39) |
N846I |
probably damaging |
Het |
| Csrp2 |
T |
C |
10: 110,767,844 (GRCm39) |
C10R |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,340,412 (GRCm39) |
N625D |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,732,201 (GRCm39) |
N4235S |
probably damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,373,896 (GRCm39) |
C265R |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,028,336 (GRCm39) |
M918T |
probably benign |
Het |
| Duox1 |
C |
A |
2: 122,164,288 (GRCm39) |
T916N |
possibly damaging |
Het |
| E130308A19Rik |
A |
T |
4: 59,691,332 (GRCm39) |
I389F |
probably benign |
Het |
| Eif2ak1 |
T |
A |
5: 143,821,617 (GRCm39) |
V311D |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,220,395 (GRCm39) |
M534K |
probably benign |
Het |
| Gpr182 |
A |
T |
10: 127,586,893 (GRCm39) |
F19L |
probably benign |
Het |
| Ifi214 |
T |
A |
1: 173,356,983 (GRCm39) |
D40V |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,264,351 (GRCm39) |
V121A |
possibly damaging |
Het |
| Klrh1 |
A |
G |
6: 129,743,658 (GRCm39) |
Y209H |
probably benign |
Het |
| Mylk |
T |
A |
16: 34,715,213 (GRCm39) |
S514T |
probably benign |
Het |
| Myo18b |
C |
T |
5: 113,013,601 (GRCm39) |
R785H |
possibly damaging |
Het |
| Naga |
T |
G |
15: 82,219,057 (GRCm39) |
D230A |
possibly damaging |
Het |
| Napsa |
A |
G |
7: 44,230,761 (GRCm39) |
N70D |
probably benign |
Het |
| Nup210l |
T |
A |
3: 90,027,216 (GRCm39) |
Y199* |
probably null |
Het |
| Olfml2b |
A |
T |
1: 170,477,359 (GRCm39) |
K165* |
probably null |
Het |
| Or1j20 |
C |
T |
2: 36,760,448 (GRCm39) |
P290L |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,970,576 (GRCm39) |
|
probably null |
Het |
| Pcyox1 |
T |
A |
6: 86,365,881 (GRCm39) |
K444N |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,242,084 (GRCm39) |
|
probably null |
Het |
| Ppp6r3 |
T |
C |
19: 3,544,011 (GRCm39) |
I335V |
probably benign |
Het |
| Prkcz |
A |
G |
4: 155,440,956 (GRCm39) |
S71P |
probably damaging |
Het |
| Psg19 |
C |
T |
7: 18,528,014 (GRCm39) |
R243Q |
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,517,769 (GRCm39) |
M382K |
possibly damaging |
Het |
| Slc16a14 |
T |
A |
1: 84,885,106 (GRCm39) |
I478L |
probably benign |
Het |
| Slc45a1 |
A |
T |
4: 150,727,096 (GRCm39) |
N174K |
probably damaging |
Het |
| Slc5a5 |
G |
A |
8: 71,343,822 (GRCm39) |
T160I |
probably damaging |
Het |
| Smpdl3b |
T |
A |
4: 132,465,586 (GRCm39) |
H278L |
possibly damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,219,931 (GRCm39) |
R371H |
probably damaging |
Het |
| Taok3 |
A |
G |
5: 117,342,433 (GRCm39) |
Y137C |
probably damaging |
Het |
| Tapbpl |
T |
C |
6: 125,207,679 (GRCm39) |
D49G |
probably benign |
Het |
| Tbr1 |
T |
C |
2: 61,635,394 (GRCm39) |
S115P |
probably benign |
Het |
| Trim67 |
C |
T |
8: 125,549,918 (GRCm39) |
T516I |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,741,828 (GRCm39) |
L1351Q |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,815,884 (GRCm39) |
I166T |
probably benign |
Het |
| Tspan8 |
T |
A |
10: 115,663,729 (GRCm39) |
C22S |
probably damaging |
Het |
| Tyro3 |
T |
C |
2: 119,647,321 (GRCm39) |
S813P |
probably benign |
Het |
| U2af2 |
G |
T |
7: 5,078,683 (GRCm39) |
V421L |
probably benign |
Het |
| Vmn1r77 |
T |
C |
7: 11,775,736 (GRCm39) |
S103P |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,873 (GRCm39) |
D911E |
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmn2r56 |
A |
T |
7: 12,428,809 (GRCm39) |
C486S |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,331,772 (GRCm39) |
|
probably null |
Het |
| Xirp1 |
T |
G |
9: 119,847,791 (GRCm39) |
E364A |
probably benign |
Het |
| Zbp1 |
T |
C |
2: 173,057,634 (GRCm39) |
E99G |
probably damaging |
Het |
| Zfp385b |
C |
A |
2: 77,280,612 (GRCm39) |
V109F |
possibly 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 |
|
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 |
|
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'- GTGCATTAGATAACCACCAAAGG -3'
(R):5'- CCGAGAGTTGAGAGTGATCCAG -3'
Sequencing Primer
(F):5'- CCACCAAAGGTAGTAAAAGGCATGC -3'
(R):5'- AGTGATCCAGGGAAGAGACC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation