Incidental Mutation 'R5701:Synpo2'
| ID |
450880 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synpo2
|
| Ensembl Gene |
ENSMUSG00000050315 |
| Gene Name |
synaptopodin 2 |
| Synonyms |
1110069I04Rik, 2310068J10Rik, 9530006G20Rik, myopodin, Myo |
| MMRRC Submission |
043181-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5701 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
122870168-123029798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 122873879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Alanine
at position 1029
(G1029A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106426]
[ENSMUST00000106427]
|
| AlphaFold |
Q91YE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106426
AA Change: G1088A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102034
Gene: ENSMUSG00000050315
AA Change: G1088A
| 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: G1029A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102035
Gene: ENSMUSG00000050315
AA Change: G1029A
| 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 |
unknown
Transcript: ENSMUST00000139160
AA Change: G46A
|
| SMART Domains |
Protein: ENSMUSP00000123396
Gene: ENSMUSG00000050315
AA Change: G46A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
155 |
170 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Asxl1 |
A |
G |
2: 153,241,409 (GRCm39) |
E653G |
probably damaging |
Het |
| AW551984 |
G |
A |
9: 39,504,118 (GRCm39) |
A616V |
probably benign |
Het |
| Birc6 |
T |
C |
17: 75,004,420 (GRCm39) |
M4763T |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 36,975,509 (GRCm39) |
M727K |
probably benign |
Het |
| Cand2 |
T |
G |
6: 115,774,893 (GRCm39) |
F1034V |
probably damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,936,741 (GRCm39) |
V722A |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Chrnd |
G |
A |
1: 87,125,380 (GRCm39) |
V340I |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,366 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,513,617 (GRCm39) |
E1920G |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 48,403,729 (GRCm39) |
F194I |
probably damaging |
Het |
| D930048N14Rik |
T |
A |
11: 51,544,556 (GRCm39) |
|
probably null |
Het |
| Defa28 |
T |
C |
8: 22,073,863 (GRCm39) |
Y89H |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 30,996,001 (GRCm39) |
G2705E |
probably damaging |
Het |
| Eci2 |
A |
T |
13: 35,174,250 (GRCm39) |
S104T |
possibly damaging |
Het |
| Ep300 |
T |
C |
15: 81,485,696 (GRCm39) |
S228P |
unknown |
Het |
| Gabrb2 |
T |
A |
11: 42,378,201 (GRCm39) |
M139K |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,266,265 (GRCm39) |
N592I |
possibly damaging |
Het |
| Gpr158 |
C |
T |
2: 21,751,520 (GRCm39) |
R480C |
probably damaging |
Het |
| Gps1 |
A |
G |
11: 120,676,008 (GRCm39) |
D71G |
probably benign |
Het |
| Hoxc9 |
T |
C |
15: 102,890,313 (GRCm39) |
Y77H |
possibly damaging |
Het |
| Il9r |
T |
A |
11: 32,143,263 (GRCm39) |
Y231F |
probably benign |
Het |
| Klhl1 |
A |
G |
14: 96,438,816 (GRCm39) |
M494T |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,519,015 (GRCm39) |
V2365A |
probably benign |
Het |
| Kri1 |
T |
A |
9: 21,192,425 (GRCm39) |
K241M |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,397,018 (GRCm39) |
C928S |
probably damaging |
Het |
| Mcm2 |
T |
C |
6: 88,870,073 (GRCm39) |
D32G |
probably damaging |
Het |
| Mex3d |
T |
C |
10: 80,217,379 (GRCm39) |
T613A |
probably benign |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,675,964 (GRCm39) |
I241V |
probably benign |
Het |
| Myo6 |
C |
T |
9: 80,165,809 (GRCm39) |
T398I |
probably damaging |
Het |
| Nckap1l |
G |
A |
15: 103,381,195 (GRCm39) |
A366T |
probably benign |
Het |
| Or5m11 |
A |
G |
2: 85,782,168 (GRCm39) |
T254A |
possibly damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Rapgef6 |
T |
C |
11: 54,567,220 (GRCm39) |
W857R |
possibly damaging |
Het |
| Raxos1 |
G |
A |
18: 66,071,059 (GRCm39) |
|
probably benign |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Slc66a2 |
T |
A |
18: 80,315,693 (GRCm39) |
D118E |
possibly damaging |
Het |
| Tbc1d5 |
TTGCTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG |
17: 51,106,983 (GRCm39) |
|
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,367,816 (GRCm39) |
Y392C |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,404,492 (GRCm39) |
F304L |
probably benign |
Het |
| Zfp316 |
C |
T |
5: 143,240,132 (GRCm39) |
G629D |
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 |
|
|
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 |
|
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'- TGTTCCTAGGTCTGAAGGCG -3'
(R):5'- CCAAATGAGGAGTGTGGGTATC -3'
Sequencing Primer
(F):5'- TCTGAAGGCGTCATCCACTAG -3'
(R):5'- GTGTGGGTATCACTCAACAAAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation