Incidental Mutation 'R5712:Synpo2'
| ID |
450926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synpo2
|
| Ensembl Gene |
ENSMUSG00000050315 |
| Gene Name |
synaptopodin 2 |
| Synonyms |
1110069I04Rik, 2310068J10Rik, 9530006G20Rik, myopodin, Myo |
| MMRRC Submission |
043334-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5712 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
122870168-123029798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122914859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 56
(I56F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051443]
[ENSMUST00000106426]
[ENSMUST00000106427]
[ENSMUST00000198584]
|
| AlphaFold |
Q91YE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051443
AA Change: I56F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051570
Gene: ENSMUSG00000050315
AA Change: I56F
| 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: I56F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: I56F
| 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: I56F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: I56F
| 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 damaging
Transcript: ENSMUST00000198584
AA Change: I56F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: I56F
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,981,563 (GRCm39) |
T133A |
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,626,715 (GRCm39) |
E708K |
probably damaging |
Het |
| Alkbh1 |
A |
G |
12: 87,475,883 (GRCm39) |
C300R |
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,675,646 (GRCm39) |
N52D |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,959,297 (GRCm39) |
S2225T |
probably damaging |
Het |
| Aspn |
A |
T |
13: 49,716,995 (GRCm39) |
Y257F |
probably damaging |
Het |
| Atp2b4 |
A |
C |
1: 133,658,278 (GRCm39) |
V544G |
probably damaging |
Het |
| Bclaf1 |
T |
G |
10: 20,209,277 (GRCm39) |
Y498D |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,796,954 (GRCm39) |
I1520T |
probably damaging |
Het |
| Castor1 |
T |
C |
11: 4,168,378 (GRCm39) |
L22P |
probably damaging |
Het |
| Cfap57 |
G |
T |
4: 118,471,992 (GRCm39) |
P129Q |
probably damaging |
Het |
| Clcn3 |
A |
G |
8: 61,390,332 (GRCm39) |
|
probably null |
Het |
| Epx |
A |
T |
11: 87,765,679 (GRCm39) |
Y93* |
probably null |
Het |
| Erich6b |
T |
A |
14: 75,896,340 (GRCm39) |
D75E |
possibly damaging |
Het |
| Exoc3l4 |
T |
A |
12: 111,390,476 (GRCm39) |
Y350* |
probably null |
Het |
| Fam13a |
T |
A |
6: 58,933,684 (GRCm39) |
D302V |
probably damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Fga |
C |
T |
3: 82,940,440 (GRCm39) |
T698I |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,839,192 (GRCm39) |
S6987P |
possibly damaging |
Het |
| Gbp9 |
T |
A |
5: 105,242,421 (GRCm39) |
N106I |
possibly damaging |
Het |
| Gls |
T |
A |
1: 52,235,911 (GRCm39) |
K401N |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,291,254 (GRCm39) |
K146E |
probably damaging |
Het |
| Gpr3 |
A |
G |
4: 132,937,719 (GRCm39) |
S318P |
probably benign |
Het |
| Kbtbd7 |
T |
C |
14: 79,666,205 (GRCm39) |
V679A |
possibly damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,409,678 (GRCm39) |
L127H |
probably damaging |
Het |
| Lck |
G |
T |
4: 129,450,103 (GRCm39) |
H214Q |
probably benign |
Het |
| Lrch4 |
A |
C |
5: 137,636,188 (GRCm39) |
S380R |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,586,425 (GRCm39) |
K414* |
probably null |
Het |
| Maco1 |
A |
T |
4: 134,555,369 (GRCm39) |
M368K |
probably benign |
Het |
| Med11 |
A |
G |
11: 70,344,058 (GRCm39) |
E126G |
probably damaging |
Het |
| Mknk1 |
A |
G |
4: 115,712,203 (GRCm39) |
|
probably null |
Het |
| Mst1 |
T |
C |
9: 107,960,107 (GRCm39) |
C355R |
probably damaging |
Het |
| Mtcl2 |
T |
A |
2: 156,872,841 (GRCm39) |
E890V |
probably damaging |
Het |
| Myl10 |
T |
C |
5: 136,723,092 (GRCm39) |
F14L |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,325,932 (GRCm39) |
T1125M |
probably benign |
Het |
| Nin |
T |
C |
12: 70,089,543 (GRCm39) |
T1291A |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,265,105 (GRCm39) |
Q335R |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,638,888 (GRCm39) |
T83A |
probably damaging |
Het |
| Rdh19 |
T |
A |
10: 127,692,756 (GRCm39) |
M141K |
probably benign |
Het |
| Rnf17 |
G |
A |
14: 56,708,856 (GRCm39) |
V759I |
probably benign |
Het |
| Sirt7 |
A |
T |
11: 120,511,677 (GRCm39) |
Y18* |
probably null |
Het |
| Slc27a5 |
T |
C |
7: 12,732,010 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
C |
A |
17: 43,937,299 (GRCm39) |
G1250C |
probably damaging |
Het |
| Tmem190 |
G |
A |
7: 4,787,288 (GRCm39) |
G164D |
probably damaging |
Het |
| Tmigd1 |
T |
C |
11: 76,797,858 (GRCm39) |
Y67H |
probably damaging |
Het |
| Trim3 |
T |
A |
7: 105,268,743 (GRCm39) |
E70D |
probably damaging |
Het |
| Uap1 |
A |
G |
1: 169,994,414 (GRCm39) |
F21L |
possibly damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,925 (GRCm39) |
V76D |
probably benign |
Het |
| Vps13d |
A |
C |
4: 144,813,743 (GRCm39) |
S3245A |
probably benign |
Het |
| Wnt7a |
T |
C |
6: 91,343,186 (GRCm39) |
Y232C |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,398,360 (GRCm39) |
V4224A |
unknown |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACTGCTTGCTTTCAGC -3'
(R):5'- AATTTCCAGATCTCCAGGCC -3'
Sequencing Primer
(F):5'- AGCACTGTGTACCTGTCCTGAG -3'
(R):5'- TCAGATTCGAAGCCAGAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation