Incidental Mutation 'R5509:Senp2'
| ID |
431104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp2
|
| Ensembl Gene |
ENSMUSG00000022855 |
| Gene Name |
SUMO/sentrin specific peptidase 2 |
| Synonyms |
4930538C18Rik, 2310007L05Rik |
| MMRRC Submission |
043070-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5509 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
21828234-21868019 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21859272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 441
(F441S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023561]
[ENSMUST00000231724]
[ENSMUST00000232679]
|
| AlphaFold |
Q91ZX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023561
AA Change: F441S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023561
Gene: ENSMUSG00000022855
AA Change: F441S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
340 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
408 |
587 |
1.5e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231724
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231798
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232263
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232679
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjugatable form and catalyze the deconjugation of SUMO1-containing species.[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygous null mice are embryonic lethal due to placental defects resulting from abnormal trophoblast maturation. [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 |
|---|
| Abcc10 |
G |
C |
17: 46,635,185 (GRCm39) |
Q273E |
probably benign |
Het |
| Acly |
C |
T |
11: 100,405,805 (GRCm39) |
R329Q |
probably damaging |
Het |
| Acsm2 |
T |
C |
7: 119,172,840 (GRCm39) |
S152P |
probably damaging |
Het |
| Adamtsl4 |
A |
T |
3: 95,588,667 (GRCm39) |
I515N |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,481,857 (GRCm39) |
D879G |
probably damaging |
Het |
| Bmp8b |
G |
A |
4: 123,008,369 (GRCm39) |
D112N |
possibly damaging |
Het |
| Camk2d |
T |
C |
3: 126,633,965 (GRCm39) |
W496R |
probably damaging |
Het |
| Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
| Cflar |
T |
C |
1: 58,791,551 (GRCm39) |
F285L |
probably benign |
Het |
| Cox16 |
T |
C |
12: 81,519,032 (GRCm39) |
T176A |
probably benign |
Het |
| Cux1 |
G |
T |
5: 136,304,171 (GRCm39) |
A1214D |
probably benign |
Het |
| Cyb5d1 |
C |
A |
11: 69,284,561 (GRCm39) |
|
probably null |
Het |
| Dennd6b |
G |
A |
15: 89,069,225 (GRCm39) |
P575S |
probably damaging |
Het |
| Fbxl2 |
A |
T |
9: 113,814,415 (GRCm39) |
|
probably null |
Het |
| Gfpt2 |
T |
C |
11: 49,717,973 (GRCm39) |
F483L |
possibly damaging |
Het |
| Glrx3 |
T |
C |
7: 137,046,751 (GRCm39) |
C48R |
probably damaging |
Het |
| Invs |
G |
A |
4: 48,396,337 (GRCm39) |
V281M |
probably damaging |
Het |
| Kif13a |
G |
A |
13: 46,905,591 (GRCm39) |
A784V |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,737,557 (GRCm39) |
|
probably benign |
Het |
| Lmod2 |
A |
G |
6: 24,603,888 (GRCm39) |
T288A |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,391,361 (GRCm39) |
K1355E |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,922,818 (GRCm39) |
S1300T |
probably benign |
Het |
| Mdm2 |
A |
C |
10: 117,526,517 (GRCm39) |
D307E |
probably damaging |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Mroh4 |
T |
C |
15: 74,478,003 (GRCm39) |
Y901C |
probably benign |
Het |
| Mtmr14 |
G |
T |
6: 113,230,768 (GRCm39) |
|
probably null |
Het |
| Mug2 |
A |
T |
6: 122,061,340 (GRCm39) |
Q1420L |
possibly damaging |
Het |
| Net1 |
T |
C |
13: 3,934,320 (GRCm39) |
Q459R |
probably benign |
Het |
| Nle1 |
T |
C |
11: 82,794,008 (GRCm39) |
R343G |
possibly damaging |
Het |
| Npat |
C |
A |
9: 53,481,542 (GRCm39) |
N1083K |
probably benign |
Het |
| Nrp1 |
G |
A |
8: 129,152,396 (GRCm39) |
G202R |
possibly damaging |
Het |
| Nsun4 |
C |
T |
4: 115,908,974 (GRCm39) |
V529I |
possibly damaging |
Het |
| Or4b1d |
T |
A |
2: 89,969,236 (GRCm39) |
L82F |
probably damaging |
Het |
| Or4z4 |
T |
A |
19: 12,076,341 (GRCm39) |
I221F |
possibly damaging |
Het |
| Or5b117 |
A |
T |
19: 13,431,332 (GRCm39) |
L183Q |
probably damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,924 (GRCm39) |
D269G |
probably benign |
Het |
| Podxl |
A |
T |
6: 31,503,548 (GRCm39) |
N264K |
probably benign |
Het |
| Ptprm |
C |
T |
17: 66,996,353 (GRCm39) |
A1245T |
probably damaging |
Het |
| Rdh12 |
T |
A |
12: 79,257,558 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,760,487 (GRCm39) |
Y1532F |
probably damaging |
Het |
| Snap23 |
C |
A |
2: 120,425,346 (GRCm39) |
P111T |
probably benign |
Het |
| Sox2 |
A |
G |
3: 34,704,938 (GRCm39) |
D125G |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,968,018 (GRCm39) |
W923R |
probably damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,101,022 (GRCm39) |
E656G |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,492,838 (GRCm39) |
T892A |
probably benign |
Het |
| Tg |
A |
G |
15: 66,699,142 (GRCm39) |
I24V |
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,964,622 (GRCm39) |
K1372N |
probably damaging |
Het |
| Ubc |
A |
T |
5: 125,464,339 (GRCm39) |
N329K |
probably benign |
Het |
| Vmn2r106 |
T |
A |
17: 20,498,684 (GRCm39) |
H409L |
probably damaging |
Het |
| Wdfy3 |
T |
A |
5: 102,009,314 (GRCm39) |
N2751Y |
possibly damaging |
Het |
| Zfp518a |
T |
A |
19: 40,903,845 (GRCm39) |
I1258K |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,756,451 (GRCm39) |
E131G |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,293,295 (GRCm39) |
R2027W |
probably damaging |
Het |
|
| Other mutations in Senp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00788:Senp2
|
APN |
16 |
21,837,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01562:Senp2
|
APN |
16 |
21,828,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01757:Senp2
|
APN |
16 |
21,828,414 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02593:Senp2
|
APN |
16 |
21,863,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02896:Senp2
|
APN |
16 |
21,837,118 (GRCm39) |
nonsense |
probably null |
|
|
IGL03219:Senp2
|
APN |
16 |
21,833,014 (GRCm39) |
splice site |
probably benign |
|
|
IGL03244:Senp2
|
APN |
16 |
21,859,329 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Jessie
|
UTSW |
16 |
21,837,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
wrangler
|
UTSW |
16 |
21,847,344 (GRCm39) |
critical splice donor site |
probably null |
|
|
wrestler
|
UTSW |
16 |
21,857,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Senp2
|
UTSW |
16 |
21,832,864 (GRCm39) |
splice site |
probably benign |
|
|
R0410:Senp2
|
UTSW |
16 |
21,828,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0511:Senp2
|
UTSW |
16 |
21,855,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1186:Senp2
|
UTSW |
16 |
21,830,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1689:Senp2
|
UTSW |
16 |
21,845,416 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1723:Senp2
|
UTSW |
16 |
21,846,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1776:Senp2
|
UTSW |
16 |
21,861,810 (GRCm39) |
splice site |
probably benign |
|
|
R2056:Senp2
|
UTSW |
16 |
21,832,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Senp2
|
UTSW |
16 |
21,832,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2371:Senp2
|
UTSW |
16 |
21,837,125 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3838:Senp2
|
UTSW |
16 |
21,828,485 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3839:Senp2
|
UTSW |
16 |
21,828,485 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4001:Senp2
|
UTSW |
16 |
21,847,318 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4190:Senp2
|
UTSW |
16 |
21,865,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4191:Senp2
|
UTSW |
16 |
21,865,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Senp2
|
UTSW |
16 |
21,865,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4231:Senp2
|
UTSW |
16 |
21,830,304 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4435:Senp2
|
UTSW |
16 |
21,832,991 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4847:Senp2
|
UTSW |
16 |
21,857,386 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5207:Senp2
|
UTSW |
16 |
21,860,130 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6036:Senp2
|
UTSW |
16 |
21,847,308 (GRCm39) |
nonsense |
probably null |
|
|
R6036:Senp2
|
UTSW |
16 |
21,847,308 (GRCm39) |
nonsense |
probably null |
|
|
R6475:Senp2
|
UTSW |
16 |
21,842,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6517:Senp2
|
UTSW |
16 |
21,845,474 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6923:Senp2
|
UTSW |
16 |
21,830,326 (GRCm39) |
intron |
probably benign |
|
|
R7287:Senp2
|
UTSW |
16 |
21,837,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Senp2
|
UTSW |
16 |
21,857,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7884:Senp2
|
UTSW |
16 |
21,832,981 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8037:Senp2
|
UTSW |
16 |
21,832,888 (GRCm39) |
nonsense |
probably null |
|
|
R8393:Senp2
|
UTSW |
16 |
21,850,864 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8805:Senp2
|
UTSW |
16 |
21,846,789 (GRCm39) |
missense |
probably benign |
|
|
R9216:Senp2
|
UTSW |
16 |
21,847,344 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9426:Senp2
|
UTSW |
16 |
21,828,491 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9479:Senp2
|
UTSW |
16 |
21,842,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9592:Senp2
|
UTSW |
16 |
21,845,435 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Z1177:Senp2
|
UTSW |
16 |
21,828,455 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTAAGCATCTCACTCTGAC -3'
(R):5'- TTGATCCCCAAGATAAGCAAAGAGC -3'
Sequencing Primer
(F):5'- AAGCATCTCACTCTGACTCTCATAGG -3'
(R):5'- GCAAAGAGCTAAGGACAGAGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation