Incidental Mutation 'R8771:Synpo2l'
ID |
664424 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synpo2l
|
Ensembl Gene |
ENSMUSG00000039376 |
Gene Name |
synaptopodin 2-like |
Synonyms |
1110054M18Rik, Chap |
MMRRC Submission |
068602-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.809)
|
Stock # |
R8771 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
20709014-20718422 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20710491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 939
(S939P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057090]
[ENSMUST00000090469]
[ENSMUST00000117386]
[ENSMUST00000119483]
|
AlphaFold |
Q8BWB1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057090
AA Change: S936P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000053176 Gene: ENSMUSG00000039376 AA Change: S936P
Domain | Start | End | E-Value | Type |
PDZ
|
15 |
85 |
3.52e-10 |
SMART |
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
low complexity region
|
151 |
162 |
N/A |
INTRINSIC |
low complexity region
|
202 |
230 |
N/A |
INTRINSIC |
low complexity region
|
243 |
257 |
N/A |
INTRINSIC |
low complexity region
|
429 |
444 |
N/A |
INTRINSIC |
low complexity region
|
500 |
518 |
N/A |
INTRINSIC |
low complexity region
|
530 |
540 |
N/A |
INTRINSIC |
low complexity region
|
563 |
580 |
N/A |
INTRINSIC |
low complexity region
|
591 |
604 |
N/A |
INTRINSIC |
low complexity region
|
700 |
726 |
N/A |
INTRINSIC |
low complexity region
|
781 |
797 |
N/A |
INTRINSIC |
low complexity region
|
867 |
880 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090469
|
SMART Domains |
Protein: ENSMUSP00000087955 Gene: ENSMUSG00000068697
Domain | Start | End | E-Value | Type |
Pfam:Calsarcin
|
1 |
296 |
1.9e-105 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117386
AA Change: S939P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112792 Gene: ENSMUSG00000039376 AA Change: S939P
Domain | Start | End | E-Value | Type |
PDZ
|
15 |
88 |
1.34e-15 |
SMART |
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
low complexity region
|
154 |
165 |
N/A |
INTRINSIC |
low complexity region
|
205 |
233 |
N/A |
INTRINSIC |
low complexity region
|
246 |
260 |
N/A |
INTRINSIC |
low complexity region
|
432 |
447 |
N/A |
INTRINSIC |
low complexity region
|
503 |
521 |
N/A |
INTRINSIC |
low complexity region
|
533 |
543 |
N/A |
INTRINSIC |
low complexity region
|
566 |
583 |
N/A |
INTRINSIC |
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
low complexity region
|
703 |
729 |
N/A |
INTRINSIC |
low complexity region
|
784 |
800 |
N/A |
INTRINSIC |
low complexity region
|
870 |
883 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119483
AA Change: S710P
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000112760 Gene: ENSMUSG00000039376 AA Change: S710P
Domain | Start | End | E-Value | Type |
low complexity region
|
203 |
218 |
N/A |
INTRINSIC |
low complexity region
|
274 |
292 |
N/A |
INTRINSIC |
low complexity region
|
304 |
314 |
N/A |
INTRINSIC |
low complexity region
|
337 |
354 |
N/A |
INTRINSIC |
low complexity region
|
365 |
378 |
N/A |
INTRINSIC |
low complexity region
|
474 |
500 |
N/A |
INTRINSIC |
low complexity region
|
555 |
571 |
N/A |
INTRINSIC |
low complexity region
|
641 |
654 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,880,320 (GRCm39) |
I451T |
probably damaging |
Het |
Acin1 |
T |
C |
14: 54,880,496 (GRCm39) |
K1236E |
unknown |
Het |
AI661453 |
T |
C |
17: 47,777,683 (GRCm39) |
S470P |
unknown |
Het |
Ano5 |
C |
A |
7: 51,216,095 (GRCm39) |
N357K |
probably damaging |
Het |
Ano5 |
C |
T |
7: 51,220,047 (GRCm39) |
Q396* |
probably null |
Het |
Baz1b |
T |
A |
5: 135,273,151 (GRCm39) |
M1425K |
probably benign |
Het |
Cdh22 |
A |
T |
2: 164,988,689 (GRCm39) |
V222E |
possibly damaging |
Het |
Celsr1 |
A |
T |
15: 85,788,175 (GRCm39) |
S2692R |
probably benign |
Het |
Ces5a |
A |
G |
8: 94,255,249 (GRCm39) |
I144T |
possibly damaging |
Het |
D5Ertd579e |
T |
A |
5: 36,761,940 (GRCm39) |
N1309I |
probably damaging |
Het |
Dnmt3b |
C |
T |
2: 153,504,734 (GRCm39) |
T112M |
possibly damaging |
Het |
Eif4g3 |
C |
T |
4: 137,907,848 (GRCm39) |
Q1283* |
probably null |
Het |
Etnppl |
T |
A |
3: 130,414,024 (GRCm39) |
M41K |
probably damaging |
Het |
Hhatl |
G |
A |
9: 121,617,776 (GRCm39) |
T271I |
possibly damaging |
Het |
Igkv5-37 |
A |
G |
6: 69,940,423 (GRCm39) |
S74P |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,385,779 (GRCm39) |
V272A |
probably benign |
Het |
Lgr6 |
A |
T |
1: 134,933,429 (GRCm39) |
L262* |
probably null |
Het |
Lrriq3 |
G |
A |
3: 154,899,270 (GRCm39) |
V590I |
probably damaging |
Het |
Mfsd13a |
T |
C |
19: 46,360,668 (GRCm39) |
V382A |
probably damaging |
Het |
Minar2 |
T |
C |
18: 59,200,052 (GRCm39) |
|
probably benign |
Het |
Mrc2 |
A |
G |
11: 105,240,596 (GRCm39) |
T1429A |
probably benign |
Het |
Mroh5 |
A |
T |
15: 73,693,203 (GRCm39) |
M79K |
possibly damaging |
Het |
Myo1c |
A |
G |
11: 75,556,709 (GRCm39) |
K553R |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,300,743 (GRCm39) |
T1488A |
probably benign |
Het |
Or4c12 |
T |
C |
2: 89,773,565 (GRCm39) |
K298R |
probably benign |
Het |
Or5aq6 |
T |
C |
2: 86,923,294 (GRCm39) |
Y149C |
probably benign |
Het |
Or5m10b |
T |
G |
2: 85,699,712 (GRCm39) |
Y259D |
probably damaging |
Het |
Or5p76 |
T |
A |
7: 108,122,632 (GRCm39) |
N175I |
possibly damaging |
Het |
Prl7a1 |
A |
T |
13: 27,819,811 (GRCm39) |
W148R |
probably damaging |
Het |
Ptpn2 |
G |
T |
18: 67,805,659 (GRCm39) |
T402K |
probably benign |
Het |
Ptprf |
A |
G |
4: 118,068,987 (GRCm39) |
M1665T |
possibly damaging |
Het |
Raet1e |
G |
T |
10: 22,057,041 (GRCm39) |
V122F |
probably damaging |
Het |
Serpina3m |
A |
G |
12: 104,357,841 (GRCm39) |
E255G |
probably damaging |
Het |
Sorcs2 |
T |
C |
5: 36,188,624 (GRCm39) |
Y828C |
probably damaging |
Het |
Sprr1a |
T |
A |
3: 92,391,989 (GRCm39) |
H4L |
probably benign |
Het |
Sptssa |
A |
G |
12: 54,703,211 (GRCm39) |
Y20H |
probably damaging |
Het |
Tdrd7 |
T |
C |
4: 46,010,800 (GRCm39) |
V568A |
probably damaging |
Het |
Tmem132c |
C |
T |
5: 127,437,192 (GRCm39) |
P227L |
probably benign |
Het |
Tmtc3 |
A |
G |
10: 100,286,180 (GRCm39) |
S548P |
possibly damaging |
Het |
Trip12 |
A |
T |
1: 84,721,018 (GRCm39) |
|
probably benign |
Het |
Ttll6 |
A |
G |
11: 96,042,762 (GRCm39) |
Y436C |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,685,554 (GRCm39) |
D2226G |
possibly damaging |
Het |
Vmn1r142 |
T |
C |
7: 21,862,737 (GRCm39) |
M242V |
probably benign |
Het |
Vmn2r12 |
T |
G |
5: 109,239,952 (GRCm39) |
T204P |
possibly damaging |
Het |
Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
Vmn2r61 |
C |
A |
7: 41,916,194 (GRCm39) |
A269D |
probably damaging |
Het |
Zfp148 |
A |
G |
16: 33,317,656 (GRCm39) |
D776G |
possibly damaging |
Het |
Zfp775 |
A |
T |
6: 48,596,906 (GRCm39) |
Q260L |
probably benign |
Het |
|
Other mutations in Synpo2l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0048:Synpo2l
|
UTSW |
14 |
20,716,340 (GRCm39) |
unclassified |
probably benign |
|
R0277:Synpo2l
|
UTSW |
14 |
20,711,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R0440:Synpo2l
|
UTSW |
14 |
20,711,466 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0540:Synpo2l
|
UTSW |
14 |
20,710,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:Synpo2l
|
UTSW |
14 |
20,710,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R0712:Synpo2l
|
UTSW |
14 |
20,711,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R1175:Synpo2l
|
UTSW |
14 |
20,718,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1563:Synpo2l
|
UTSW |
14 |
20,711,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R1729:Synpo2l
|
UTSW |
14 |
20,715,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R1730:Synpo2l
|
UTSW |
14 |
20,715,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Synpo2l
|
UTSW |
14 |
20,715,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R2199:Synpo2l
|
UTSW |
14 |
20,711,987 (GRCm39) |
missense |
probably benign |
0.00 |
R2213:Synpo2l
|
UTSW |
14 |
20,710,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R3085:Synpo2l
|
UTSW |
14 |
20,712,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4787:Synpo2l
|
UTSW |
14 |
20,711,765 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5256:Synpo2l
|
UTSW |
14 |
20,711,082 (GRCm39) |
missense |
probably benign |
0.00 |
R5454:Synpo2l
|
UTSW |
14 |
20,712,360 (GRCm39) |
missense |
probably damaging |
0.99 |
R5455:Synpo2l
|
UTSW |
14 |
20,712,360 (GRCm39) |
missense |
probably damaging |
0.99 |
R5765:Synpo2l
|
UTSW |
14 |
20,716,198 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5950:Synpo2l
|
UTSW |
14 |
20,716,003 (GRCm39) |
missense |
probably benign |
0.00 |
R6376:Synpo2l
|
UTSW |
14 |
20,710,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R6438:Synpo2l
|
UTSW |
14 |
20,711,204 (GRCm39) |
missense |
probably benign |
0.00 |
R6440:Synpo2l
|
UTSW |
14 |
20,718,244 (GRCm39) |
missense |
probably damaging |
0.98 |
R6511:Synpo2l
|
UTSW |
14 |
20,712,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R6834:Synpo2l
|
UTSW |
14 |
20,710,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R7735:Synpo2l
|
UTSW |
14 |
20,711,243 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7968:Synpo2l
|
UTSW |
14 |
20,716,870 (GRCm39) |
splice site |
probably null |
|
R8250:Synpo2l
|
UTSW |
14 |
20,712,344 (GRCm39) |
missense |
probably benign |
0.03 |
R8282:Synpo2l
|
UTSW |
14 |
20,711,204 (GRCm39) |
missense |
probably benign |
0.00 |
R8359:Synpo2l
|
UTSW |
14 |
20,716,208 (GRCm39) |
missense |
probably benign |
|
R8853:Synpo2l
|
UTSW |
14 |
20,711,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R9136:Synpo2l
|
UTSW |
14 |
20,715,857 (GRCm39) |
missense |
probably damaging |
0.97 |
R9253:Synpo2l
|
UTSW |
14 |
20,716,738 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9705:Synpo2l
|
UTSW |
14 |
20,710,989 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Synpo2l
|
UTSW |
14 |
20,716,035 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Synpo2l
|
UTSW |
14 |
20,710,572 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CACTATCTCTGGCAATCGGC -3'
(R):5'- AAACTGCCCGAGTTCAGGAG -3'
Sequencing Primer
(F):5'- GCAATTGGCCTCAGATGTGG -3'
(R):5'- AGGAGATCCGCAGATTTTCC -3'
|
Posted On |
2021-03-08 |