Incidental Mutation 'R5671:Synpo'
| ID |
442649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synpo
|
| Ensembl Gene |
ENSMUSG00000043079 |
| Gene Name |
synaptopodin |
| Synonyms |
9030217H17Rik, 9330140I15Rik |
| MMRRC Submission |
043314-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.250)
|
| Stock # |
R5671 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
60727045-60793214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60729022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1060
(D1060G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056533]
[ENSMUST00000097566]
[ENSMUST00000115318]
[ENSMUST00000130044]
[ENSMUST00000130360]
[ENSMUST00000143275]
[ENSMUST00000155195]
|
| AlphaFold |
Q8CC35 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056533
|
| SMART Domains |
Protein: ENSMUSP00000063108
Gene: ENSMUSG00000049173
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calsarcin
|
1 |
244 |
1.6e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097566
AA Change: D861G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095174
Gene: ENSMUSG00000043079
AA Change: D861G
| 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 benign
Transcript: ENSMUST00000115318
|
| SMART Domains |
Protein: ENSMUSP00000110973
Gene: ENSMUSG00000043079
| 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: ENSMUST00000128528
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130044
AA Change: D861G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121756
Gene: ENSMUSG00000043079
AA Change: D861G
| 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: D1060G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115355
Gene: ENSMUSG00000043079
AA Change: D1060G
| 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 |
probably benign
Transcript: ENSMUST00000143275
|
| SMART Domains |
Protein: ENSMUSP00000125272
Gene: ENSMUSG00000043079
| 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 benign
Transcript: ENSMUST00000155195
|
| SMART Domains |
Protein: ENSMUSP00000117897
Gene: ENSMUSG00000043079
| 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 |
|
| Meta Mutation Damage Score |
0.1105 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (57/57) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Ak2 |
T |
A |
4: 128,902,040 (GRCm39) |
F238I |
probably damaging |
Het |
| Akap8l |
T |
C |
17: 32,557,266 (GRCm39) |
Y115C |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,606,190 (GRCm39) |
N2613K |
possibly damaging |
Het |
| Antxr1 |
C |
T |
6: 87,194,255 (GRCm39) |
|
probably null |
Het |
| Ap3b1 |
A |
T |
13: 94,664,765 (GRCm39) |
R901S |
unknown |
Het |
| Arhgap45 |
A |
G |
10: 79,861,310 (GRCm39) |
E491G |
probably damaging |
Het |
| Capn11 |
C |
T |
17: 45,950,600 (GRCm39) |
R293Q |
possibly damaging |
Het |
| Cdx1 |
C |
T |
18: 61,152,971 (GRCm39) |
V212I |
probably benign |
Het |
| Clca4b |
G |
A |
3: 144,627,624 (GRCm39) |
T449I |
probably benign |
Het |
| Clec14a |
T |
C |
12: 58,314,612 (GRCm39) |
I337V |
probably benign |
Het |
| Clip4 |
A |
C |
17: 72,096,878 (GRCm39) |
M1L |
probably damaging |
Het |
| Exoc3l4 |
T |
C |
12: 111,389,851 (GRCm39) |
I142T |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,890,843 (GRCm38) |
I575N |
probably benign |
Het |
| Gad1-ps |
A |
T |
10: 99,280,395 (GRCm39) |
|
noncoding transcript |
Het |
| Golga7 |
C |
T |
8: 23,740,360 (GRCm39) |
A57T |
probably damaging |
Het |
| Gpa33 |
A |
G |
1: 165,974,360 (GRCm39) |
T66A |
possibly damaging |
Het |
| Gpr141b |
A |
G |
13: 19,913,465 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr45 |
A |
G |
1: 43,072,218 (GRCm39) |
Y287C |
probably damaging |
Het |
| H2-Eb1 |
C |
A |
17: 34,533,229 (GRCm39) |
Y150* |
probably null |
Het |
| Hsd17b8 |
T |
C |
17: 34,245,435 (GRCm39) |
D233G |
probably null |
Het |
| Ifna6 |
A |
T |
4: 88,745,906 (GRCm39) |
Q85L |
probably damaging |
Het |
| Igkv9-120 |
G |
A |
6: 68,027,257 (GRCm39) |
W57* |
probably null |
Het |
| Ivns1abp |
G |
T |
1: 151,229,760 (GRCm39) |
L149F |
probably benign |
Het |
| Kank4 |
A |
G |
4: 98,653,698 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
T |
10: 27,066,540 (GRCm39) |
C1114S |
probably damaging |
Het |
| Lmbr1l |
A |
C |
15: 98,805,489 (GRCm39) |
D337E |
possibly damaging |
Het |
| Ly75 |
T |
C |
2: 60,138,655 (GRCm39) |
D1404G |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,575,011 (GRCm39) |
T1199A |
probably benign |
Het |
| Nalcn |
A |
G |
14: 123,532,818 (GRCm39) |
I1314T |
probably damaging |
Het |
| Nhlrc1 |
A |
G |
13: 47,167,193 (GRCm39) |
F355L |
probably benign |
Het |
| Or2y16 |
T |
C |
11: 49,335,140 (GRCm39) |
V154A |
probably benign |
Het |
| Or4k39 |
C |
T |
2: 111,238,818 (GRCm39) |
|
noncoding transcript |
Het |
| Or5b21 |
A |
T |
19: 12,839,171 (GRCm39) |
T11S |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,246,026 (GRCm39) |
T135A |
possibly damaging |
Het |
| Ptpru |
T |
A |
4: 131,547,501 (GRCm39) |
Y112F |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,875,699 (GRCm39) |
S871G |
probably benign |
Het |
| Rhoj |
A |
T |
12: 75,440,743 (GRCm39) |
I135F |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Semp2l2b |
T |
A |
10: 21,942,742 (GRCm39) |
T413S |
possibly damaging |
Het |
| Ska1 |
G |
T |
18: 74,330,067 (GRCm39) |
D224E |
probably damaging |
Het |
| Slc11a2 |
A |
G |
15: 100,301,169 (GRCm39) |
Y295H |
probably damaging |
Het |
| Slc22a28 |
A |
T |
19: 8,108,795 (GRCm39) |
C116S |
probably damaging |
Het |
| Tectb |
T |
C |
19: 55,181,059 (GRCm39) |
S310P |
probably benign |
Het |
| Tmc6 |
A |
G |
11: 117,666,441 (GRCm39) |
S288P |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,169,490 (GRCm39) |
S82P |
probably benign |
Het |
| Ttyh3 |
T |
A |
5: 140,617,307 (GRCm39) |
M321L |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,584,345 (GRCm39) |
D518G |
probably benign |
Het |
| Vmn2r11 |
A |
G |
5: 109,202,772 (GRCm39) |
W102R |
probably benign |
Het |
| Vps13a |
G |
A |
19: 16,692,464 (GRCm39) |
H817Y |
probably benign |
Het |
| Vps51 |
A |
G |
19: 6,118,224 (GRCm39) |
V757A |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,405,892 (GRCm39) |
S463P |
probably damaging |
Het |
| Zfp423 |
T |
C |
8: 88,508,955 (GRCm39) |
N442S |
probably damaging |
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 |
|
|
R5868:Synpo
|
UTSW |
18 |
60,737,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AATGAGGTCAGACCCTTCGG -3'
(R):5'- TTCTGGCGCGCAACATCATC -3'
Sequencing Primer
(F):5'- AGGTCAGACCCTTCGGATCTC -3'
(R):5'- ATCATCAACGCGGCCCG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation