Incidental Mutation 'R6384:Synpo2'
| ID |
515490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synpo2
|
| Ensembl Gene |
ENSMUSG00000050315 |
| Gene Name |
synaptopodin 2 |
| Synonyms |
1110069I04Rik, 2310068J10Rik, 9530006G20Rik, myopodin, Myo |
| MMRRC Submission |
044533-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6384 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
122870168-123029798 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 122906698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 873
(Q873*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051443]
[ENSMUST00000106426]
[ENSMUST00000106427]
[ENSMUST00000184590]
[ENSMUST00000198584]
|
| AlphaFold |
Q91YE8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000051443
AA Change: Q543*
|
| SMART Domains |
Protein: ENSMUSP00000051570
Gene: ENSMUSG00000050315
AA Change: Q543*
| 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 null
Transcript: ENSMUST00000106426
AA Change: Q873*
|
| SMART Domains |
Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: Q873*
| 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 null
Transcript: ENSMUST00000106427
AA Change: Q873*
|
| SMART Domains |
Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: Q873*
| 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 null
Transcript: ENSMUST00000198584
AA Change: Q873*
|
| SMART Domains |
Protein: ENSMUSP00000142508
Gene: ENSMUSG00000050315
AA Change: Q873*
| 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: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
A |
5: 121,790,066 (GRCm39) |
T97S |
probably benign |
Het |
| Adam34 |
T |
A |
8: 44,103,836 (GRCm39) |
D603V |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,659,716 (GRCm39) |
V859I |
probably benign |
Het |
| Alb |
T |
A |
5: 90,620,499 (GRCm39) |
D536E |
possibly damaging |
Het |
| Amz2 |
A |
G |
11: 109,319,860 (GRCm39) |
Y82C |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,233,744 (GRCm39) |
|
probably null |
Het |
| Bach1 |
C |
T |
16: 87,516,745 (GRCm39) |
Q429* |
probably null |
Het |
| Bcl6 |
A |
G |
16: 23,793,615 (GRCm39) |
Y111H |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,834,451 (GRCm39) |
V338A |
probably benign |
Het |
| Cdca3 |
C |
T |
6: 124,809,382 (GRCm39) |
P174L |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,047,827 (GRCm39) |
L25P |
probably damaging |
Het |
| Cdr2 |
G |
A |
7: 120,581,351 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
A |
T |
19: 39,380,737 (GRCm39) |
|
probably null |
Het |
| Ednra |
T |
C |
8: 78,415,723 (GRCm39) |
N175D |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,797,660 (GRCm39) |
Y337C |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Eps15l1 |
A |
T |
8: 73,122,554 (GRCm39) |
|
probably null |
Het |
| F11r |
A |
G |
1: 171,288,508 (GRCm39) |
N117S |
probably benign |
Het |
| Foxp2 |
C |
T |
6: 15,437,947 (GRCm39) |
T716I |
probably damaging |
Het |
| Gnaq |
A |
G |
19: 16,293,377 (GRCm39) |
|
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gpr158 |
T |
C |
2: 21,831,099 (GRCm39) |
M733T |
probably damaging |
Het |
| Hdac7 |
G |
A |
15: 97,709,387 (GRCm39) |
Q48* |
probably null |
Het |
| Hmga2 |
G |
A |
10: 120,206,612 (GRCm39) |
|
probably benign |
Het |
| Itgb7 |
A |
G |
15: 102,132,886 (GRCm39) |
V142A |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,078,644 (GRCm39) |
N334D |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,100,317 (GRCm39) |
S298P |
probably benign |
Het |
| Map3k1 |
A |
T |
13: 111,887,064 (GRCm39) |
S1415R |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,670,607 (GRCm39) |
L424Q |
probably damaging |
Het |
| Numb |
A |
C |
12: 83,850,748 (GRCm39) |
L154R |
probably damaging |
Het |
| Or8g27 |
T |
C |
9: 39,129,274 (GRCm39) |
V207A |
probably benign |
Het |
| Or8k30 |
A |
G |
2: 86,339,381 (GRCm39) |
K193E |
probably benign |
Het |
| Pdcd5 |
G |
T |
7: 35,346,334 (GRCm39) |
A92E |
possibly damaging |
Het |
| Pdcl2 |
C |
T |
5: 76,478,855 (GRCm39) |
|
probably null |
Het |
| Rbfa |
T |
C |
18: 80,235,996 (GRCm39) |
Y251C |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,703,291 (GRCm39) |
T120I |
possibly damaging |
Het |
| Serpina3g |
A |
G |
12: 104,206,655 (GRCm39) |
Q152R |
probably null |
Het |
| Setx |
T |
C |
2: 29,063,570 (GRCm39) |
S2289P |
probably damaging |
Het |
| Slc6a16 |
A |
G |
7: 44,907,017 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
C |
T |
6: 142,055,105 (GRCm39) |
D280N |
probably benign |
Het |
| Syde2 |
T |
A |
3: 145,704,568 (GRCm39) |
Y240N |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,744,301 (GRCm39) |
V594A |
probably benign |
Het |
| Ttc16 |
C |
T |
2: 32,657,561 (GRCm39) |
A512T |
probably damaging |
Het |
| Tubb5 |
T |
C |
17: 36,148,938 (GRCm39) |
E3G |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,824,136 (GRCm39) |
Y464H |
probably damaging |
Het |
| Xcr1 |
T |
A |
9: 123,684,847 (GRCm39) |
H305L |
probably damaging |
Het |
| Yars1 |
T |
G |
4: 129,090,771 (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 |
|
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 |
|
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'- GACTTGATAGCAGCCAGTGG -3'
(R):5'- AAAATAGCTCAGCCTGCCGC -3'
Sequencing Primer
(F):5'- CTTGATAGCAGCCAGTGGGTAAG -3'
(R):5'- GAGTGCGCTGAACCTGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation