Incidental Mutation 'R5868:Synpo'
| ID |
454303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synpo
|
| Ensembl Gene |
ENSMUSG00000043079 |
| Gene Name |
synaptopodin |
| Synonyms |
9030217H17Rik, 9330140I15Rik |
| MMRRC Submission |
044076-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.250)
|
| Stock # |
R5868 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
60727045-60793214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60737118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 37
(L37P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097566]
[ENSMUST00000115318]
[ENSMUST00000123288]
[ENSMUST00000130044]
[ENSMUST00000130360]
[ENSMUST00000143275]
[ENSMUST00000155195]
|
| AlphaFold |
Q8CC35 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097566
AA Change: L37P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095174
Gene: ENSMUSG00000043079
AA Change: L37P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
741 |
N/A |
INTRINSIC |
|
low complexity region
|
769 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
786 |
811 |
N/A |
INTRINSIC |
|
low complexity region
|
830 |
846 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115318
AA Change: L37P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110973
Gene: ENSMUSG00000043079
AA Change: L37P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
628 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128528
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130044
AA Change: L37P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121756
Gene: ENSMUSG00000043079
AA Change: L37P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
741 |
N/A |
INTRINSIC |
|
low complexity region
|
769 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
786 |
811 |
N/A |
INTRINSIC |
|
low complexity region
|
830 |
846 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130360
AA Change: L276P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115355
Gene: ENSMUSG00000043079
AA Change: L276P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
810 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
981 |
N/A |
INTRINSIC |
|
low complexity region
|
985 |
1010 |
N/A |
INTRINSIC |
|
low complexity region
|
1029 |
1045 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137894
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143275
AA Change: L276P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125272
Gene: ENSMUSG00000043079
AA Change: L276P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
810 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
867 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155195
AA Change: L37P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117897
Gene: ENSMUSG00000043079
AA Change: L37P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
628 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160395
|
| Meta Mutation Damage Score |
0.2925 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.8%
|
| Validation Efficiency |
95% (58/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the protein's associations with postsynaptic densities and dendritic spines and with renal podocytes (Mundel et al., 1997 [PubMed 9314539]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in telencephalic neurons, reduced long term potentiation, and behavioral abnormalities including hypoactivity, reduced anxiety, and learning deficiencies. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
C |
A |
11: 69,788,401 (GRCm39) |
K394N |
possibly damaging |
Het |
| Adamts18 |
T |
A |
8: 114,504,380 (GRCm39) |
Q80L |
possibly damaging |
Het |
| Apbb2 |
T |
A |
5: 66,609,439 (GRCm39) |
K69N |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| BC035947 |
T |
A |
1: 78,474,960 (GRCm39) |
N524I |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 153,985,796 (GRCm39) |
N37S |
unknown |
Het |
| Cfap91 |
T |
A |
16: 38,152,604 (GRCm39) |
D202V |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,760,473 (GRCm39) |
D648E |
probably benign |
Het |
| Cul5 |
C |
A |
9: 53,569,973 (GRCm39) |
G86V |
probably benign |
Het |
| Cyfip1 |
A |
C |
7: 55,576,061 (GRCm39) |
D1077A |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,804,011 (GRCm39) |
S1117P |
probably benign |
Het |
| Dnaaf8 |
T |
C |
16: 4,791,932 (GRCm39) |
|
noncoding transcript |
Het |
| Elmo2 |
A |
T |
2: 165,136,192 (GRCm39) |
M618K |
possibly damaging |
Het |
| Fggy |
A |
G |
4: 95,585,225 (GRCm39) |
T35A |
probably damaging |
Het |
| Gad2 |
G |
A |
2: 22,575,079 (GRCm39) |
|
probably null |
Het |
| Gtf3c2 |
A |
C |
5: 31,325,425 (GRCm39) |
F455V |
possibly damaging |
Het |
| H4c16 |
C |
T |
6: 136,781,292 (GRCm39) |
G29D |
probably damaging |
Het |
| Hacl1 |
C |
A |
14: 31,341,873 (GRCm39) |
A311S |
probably damaging |
Het |
| Kat6b |
G |
A |
14: 21,684,547 (GRCm39) |
D611N |
probably damaging |
Het |
| Kifap3 |
T |
C |
1: 163,693,041 (GRCm39) |
I611T |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,226,911 (GRCm39) |
Y683C |
probably damaging |
Het |
| Mfsd14a |
T |
C |
3: 116,427,399 (GRCm39) |
N413S |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,078,518 (GRCm39) |
D691E |
possibly damaging |
Het |
| Mzf1 |
A |
T |
7: 12,787,116 (GRCm39) |
F64I |
probably benign |
Het |
| Neu2 |
G |
T |
1: 87,524,478 (GRCm39) |
Q154H |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,663,742 (GRCm39) |
|
probably null |
Het |
| Nod1 |
C |
A |
6: 54,916,312 (GRCm39) |
K128N |
probably damaging |
Het |
| Noxred1 |
T |
A |
12: 87,270,976 (GRCm39) |
Q215L |
possibly damaging |
Het |
| Npat |
A |
G |
9: 53,481,424 (GRCm39) |
E1044G |
probably damaging |
Het |
| Npr1 |
A |
G |
3: 90,366,800 (GRCm39) |
|
probably benign |
Het |
| Pdcd6 |
T |
C |
13: 74,452,133 (GRCm39) |
D169G |
probably damaging |
Het |
| Pld3 |
G |
T |
7: 27,237,093 (GRCm39) |
T262N |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,299,704 (GRCm39) |
|
probably benign |
Het |
| Prh1 |
A |
G |
6: 132,549,174 (GRCm39) |
Q227R |
unknown |
Het |
| Prtg |
C |
A |
9: 72,716,999 (GRCm39) |
Y113* |
probably null |
Het |
| Rbm27 |
T |
A |
18: 42,433,450 (GRCm39) |
V242E |
possibly damaging |
Het |
| Ripor1 |
T |
C |
8: 106,342,636 (GRCm39) |
L198P |
probably damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,410,360 (GRCm39) |
|
probably null |
Het |
| Serpinf2 |
T |
C |
11: 75,324,065 (GRCm39) |
T321A |
probably benign |
Het |
| Sh3gl1 |
T |
C |
17: 56,326,119 (GRCm39) |
D129G |
probably damaging |
Het |
| Slc12a2 |
C |
A |
18: 58,077,068 (GRCm39) |
P1189Q |
probably damaging |
Het |
| Slc16a9 |
T |
C |
10: 70,118,320 (GRCm39) |
M213T |
probably benign |
Het |
| Spata31f3 |
A |
T |
4: 42,871,711 (GRCm39) |
D221E |
probably damaging |
Het |
| Svil |
G |
A |
18: 5,056,854 (GRCm39) |
|
probably null |
Het |
| Tmprss9 |
A |
G |
10: 80,718,580 (GRCm39) |
H87R |
probably benign |
Het |
| Tmtc1 |
A |
T |
6: 148,139,353 (GRCm39) |
L885Q |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,586,128 (GRCm39) |
S811P |
possibly damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,689,901 (GRCm39) |
V259A |
probably benign |
Het |
| Wwox |
T |
A |
8: 115,406,586 (GRCm39) |
H192Q |
probably benign |
Het |
|
| Other mutations in Synpo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00725:Synpo
|
APN |
18 |
60,737,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00976:Synpo
|
APN |
18 |
60,736,491 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01808:Synpo
|
APN |
18 |
60,735,280 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02116:Synpo
|
APN |
18 |
60,736,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02444:Synpo
|
APN |
18 |
60,735,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02838:Synpo
|
APN |
18 |
60,736,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Synpo
|
UTSW |
18 |
60,735,490 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0650:Synpo
|
UTSW |
18 |
60,735,412 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0790:Synpo
|
UTSW |
18 |
60,736,575 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1213:Synpo
|
UTSW |
18 |
60,735,525 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1695:Synpo
|
UTSW |
18 |
60,736,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1763:Synpo
|
UTSW |
18 |
60,735,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Synpo
|
UTSW |
18 |
60,736,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1921:Synpo
|
UTSW |
18 |
60,736,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2133:Synpo
|
UTSW |
18 |
60,735,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3757:Synpo
|
UTSW |
18 |
60,736,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4796:Synpo
|
UTSW |
18 |
60,737,386 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4841:Synpo
|
UTSW |
18 |
60,736,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4842:Synpo
|
UTSW |
18 |
60,736,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4911:Synpo
|
UTSW |
18 |
60,762,936 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5091:Synpo
|
UTSW |
18 |
60,735,831 (GRCm39) |
nonsense |
probably null |
|
|
R5327:Synpo
|
UTSW |
18 |
60,736,918 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5354:Synpo
|
UTSW |
18 |
60,735,303 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5671:Synpo
|
UTSW |
18 |
60,729,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6007:Synpo
|
UTSW |
18 |
60,736,687 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7266:Synpo
|
UTSW |
18 |
60,762,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7472:Synpo
|
UTSW |
18 |
60,762,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7509:Synpo
|
UTSW |
18 |
60,736,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7554:Synpo
|
UTSW |
18 |
60,736,405 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7584:Synpo
|
UTSW |
18 |
60,729,349 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7615:Synpo
|
UTSW |
18 |
60,737,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7633:Synpo
|
UTSW |
18 |
60,736,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8499:Synpo
|
UTSW |
18 |
60,736,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8512:Synpo
|
UTSW |
18 |
60,735,483 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8996:Synpo
|
UTSW |
18 |
60,737,230 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9116:Synpo
|
UTSW |
18 |
60,735,599 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9336:Synpo
|
UTSW |
18 |
60,735,472 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9798:Synpo
|
UTSW |
18 |
60,736,832 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGCCTGGGATGAATTCTG -3'
(R):5'- TCTCCATCAAAGCCAGGCTC -3'
Sequencing Primer
(F):5'- CCTGGGATGAATTCTGTGGGAC -3'
(R):5'- GCCAGGCTCTCCAAAGC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation