Incidental Mutation 'R5292:Synpo2'
ID |
405186 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synpo2
|
Ensembl Gene |
ENSMUSG00000050315 |
Gene Name |
synaptopodin 2 |
Synonyms |
1110069I04Rik, 2310068J10Rik, 9530006G20Rik, myopodin, Myo |
MMRRC Submission |
042875-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5292 (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 A
at 122907709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 536
(V536L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102035
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051443]
[ENSMUST00000106426]
[ENSMUST00000106427]
[ENSMUST00000184590]
[ENSMUST00000198584]
|
AlphaFold |
Q91YE8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051443
AA Change: V206L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000051570 Gene: ENSMUSG00000050315 AA Change: V206L
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 benign
Transcript: ENSMUST00000106426
AA Change: V536L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000102034 Gene: ENSMUSG00000050315 AA Change: V536L
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: V536L
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102035 Gene: ENSMUSG00000050315 AA Change: V536L
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 benign
Transcript: ENSMUST00000198584
AA Change: V536L
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000142508 Gene: ENSMUSG00000050315 AA Change: V536L
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
G |
8: 25,354,467 (GRCm39) |
V641A |
possibly damaging |
Het |
Apob |
A |
T |
12: 8,055,912 (GRCm39) |
M1465L |
probably benign |
Het |
Astn1 |
T |
C |
1: 158,407,933 (GRCm39) |
|
probably null |
Het |
Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,842,185 (GRCm39) |
Y433C |
probably damaging |
Het |
Crtc3 |
T |
C |
7: 80,268,358 (GRCm39) |
T154A |
possibly damaging |
Het |
Dcc |
T |
C |
18: 71,439,159 (GRCm39) |
Y1241C |
probably damaging |
Het |
Depdc1b |
T |
C |
13: 108,510,376 (GRCm39) |
V296A |
probably damaging |
Het |
Gata3 |
A |
G |
2: 9,873,685 (GRCm39) |
S270P |
probably damaging |
Het |
Gcm1 |
T |
C |
9: 77,968,708 (GRCm39) |
F136S |
probably damaging |
Het |
Gfpt1 |
A |
G |
6: 87,053,237 (GRCm39) |
|
probably null |
Het |
Gm5174 |
G |
T |
10: 86,492,562 (GRCm39) |
|
noncoding transcript |
Het |
Hhipl1 |
A |
G |
12: 108,294,037 (GRCm39) |
T648A |
probably benign |
Het |
Hr |
C |
A |
14: 70,809,432 (GRCm39) |
Q1177K |
probably damaging |
Het |
Hrnr |
T |
C |
3: 93,239,199 (GRCm39) |
S3146P |
unknown |
Het |
Igkv10-94 |
C |
T |
6: 68,681,582 (GRCm39) |
G86E |
probably damaging |
Het |
Krt80 |
G |
A |
15: 101,250,066 (GRCm39) |
R222W |
probably damaging |
Het |
Lrch3 |
T |
C |
16: 32,796,177 (GRCm39) |
Y354H |
probably damaging |
Het |
Or10g1 |
A |
T |
14: 52,647,902 (GRCm39) |
N142K |
possibly damaging |
Het |
Or3a1b |
T |
A |
11: 74,012,877 (GRCm39) |
F254Y |
probably damaging |
Het |
Or5w1b |
T |
A |
2: 87,476,339 (GRCm39) |
N43Y |
probably damaging |
Het |
Osbpl7 |
A |
G |
11: 96,958,779 (GRCm39) |
D932G |
probably benign |
Het |
Pakap |
T |
G |
4: 57,855,356 (GRCm39) |
S471R |
probably damaging |
Het |
Palmd |
T |
C |
3: 116,717,393 (GRCm39) |
E368G |
probably benign |
Het |
Peg3 |
T |
A |
7: 6,711,259 (GRCm39) |
D1321V |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,392,962 (GRCm39) |
I1766F |
probably damaging |
Het |
Polq |
A |
G |
16: 36,881,745 (GRCm39) |
E1303G |
probably damaging |
Het |
Ppie |
A |
G |
4: 123,033,701 (GRCm39) |
Y9H |
probably damaging |
Het |
Ptprz1 |
A |
G |
6: 23,002,581 (GRCm39) |
N1557S |
probably benign |
Het |
Rnf40 |
T |
C |
7: 127,195,120 (GRCm39) |
V411A |
possibly damaging |
Het |
Rtn4 |
T |
C |
11: 29,657,924 (GRCm39) |
F577L |
probably benign |
Het |
Sacs |
A |
G |
14: 61,449,432 (GRCm39) |
Y3826C |
probably damaging |
Het |
Slc32a1 |
A |
G |
2: 158,453,307 (GRCm39) |
D49G |
probably damaging |
Het |
Slc37a2 |
A |
T |
9: 37,150,453 (GRCm39) |
C167* |
probably null |
Het |
Slc5a1 |
G |
T |
5: 33,315,585 (GRCm39) |
V535F |
probably benign |
Het |
Smoc2 |
A |
G |
17: 14,556,835 (GRCm39) |
K95E |
probably damaging |
Het |
Smok3c |
A |
C |
5: 138,063,446 (GRCm39) |
Q311P |
probably damaging |
Het |
Spink5 |
C |
A |
18: 44,139,521 (GRCm39) |
P628Q |
probably benign |
Het |
Spint4 |
T |
C |
2: 164,542,779 (GRCm39) |
L124S |
probably benign |
Het |
Stard9 |
A |
G |
2: 120,529,626 (GRCm39) |
K1961R |
probably benign |
Het |
Trim24 |
A |
G |
6: 37,880,539 (GRCm39) |
K146E |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,275,460 (GRCm39) |
D2245G |
probably benign |
Het |
Vars2 |
A |
G |
17: 35,971,678 (GRCm39) |
S81P |
probably damaging |
Het |
Zfp39 |
T |
C |
11: 58,791,415 (GRCm39) |
T91A |
probably damaging |
Het |
Zfp764l1 |
T |
C |
7: 126,991,659 (GRCm39) |
D97G |
possibly damaging |
Het |
Zfp936 |
T |
A |
7: 42,838,759 (GRCm39) |
Y75* |
probably null |
Het |
Zkscan5 |
G |
T |
5: 145,155,451 (GRCm39) |
C374F |
probably 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 |
|
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 |
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'- CAGAGATGGGACTTGTCACAC -3'
(R):5'- ATGGAAATGTTGCCAGACACC -3'
Sequencing Primer
(F):5'- ATGGGACTTGTCACACTCCGC -3'
(R):5'- TGTTGCCAGACACCACAGG -3'
|
Posted On |
2016-07-22 |