Incidental Mutation 'IGL02593:Senp2'
| ID |
299779 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Senp2
|
| Ensembl Gene |
ENSMUSG00000022855 |
| Gene Name |
SUMO/sentrin specific peptidase 2 |
| Synonyms |
4930538C18Rik, 2310007L05Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02593
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
21828234-21868019 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21863021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 556
(D556G)
|
| 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: D556G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023561
Gene: ENSMUSG00000022855
AA Change: D556G
| 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 |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsg |
G |
T |
16: 22,711,078 (GRCm39) |
|
probably null |
Het |
| Bbs4 |
C |
T |
9: 59,235,880 (GRCm39) |
D232N |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,301,774 (GRCm39) |
|
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,833,504 (GRCm39) |
N554S |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,641,591 (GRCm39) |
I1652V |
probably benign |
Het |
| Golga4 |
T |
C |
9: 118,384,634 (GRCm39) |
|
probably benign |
Het |
| Idh3a |
T |
A |
9: 54,503,477 (GRCm39) |
|
probably benign |
Het |
| Jph2 |
T |
C |
2: 163,239,166 (GRCm39) |
Y94C |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 146,969,825 (GRCm39) |
S238P |
possibly damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,498,235 (GRCm39) |
I56V |
possibly damaging |
Het |
| Myo9b |
A |
C |
8: 71,743,417 (GRCm39) |
E159D |
probably damaging |
Het |
| Nkiras1 |
A |
G |
14: 18,278,475 (GRCm38) |
N63S |
possibly damaging |
Het |
| Nnmt |
A |
G |
9: 48,516,103 (GRCm39) |
|
probably null |
Het |
| Or13a22 |
G |
A |
7: 140,073,244 (GRCm39) |
R231H |
probably benign |
Het |
| P2ry10 |
T |
C |
X: 106,146,302 (GRCm39) |
I79T |
possibly damaging |
Het |
| Padi2 |
A |
G |
4: 140,677,153 (GRCm39) |
H647R |
probably damaging |
Het |
| Pate10 |
T |
A |
9: 35,653,438 (GRCm39) |
C81S |
possibly damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,628,037 (GRCm39) |
D166G |
probably benign |
Het |
| Scml2 |
T |
C |
X: 159,970,305 (GRCm39) |
V125A |
probably benign |
Het |
| Serpina3a |
G |
T |
12: 104,084,691 (GRCm39) |
V29L |
probably benign |
Het |
| Sgcz |
A |
T |
8: 37,990,432 (GRCm39) |
I307N |
probably damaging |
Het |
| Slc25a13 |
C |
T |
6: 6,042,265 (GRCm39) |
V638I |
probably benign |
Het |
| Snx7 |
G |
A |
3: 117,633,609 (GRCm39) |
L84F |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,345,214 (GRCm39) |
D1693G |
probably damaging |
Het |
| Tm9sf5 |
G |
A |
X: 56,467,320 (GRCm39) |
D245N |
probably benign |
Het |
| Vmn2r7 |
C |
T |
3: 64,600,443 (GRCm39) |
C485Y |
probably damaging |
Het |
| Vmn2r-ps129 |
C |
T |
17: 23,211,770 (GRCm39) |
|
noncoding transcript |
Het |
| Zfyve9 |
A |
G |
4: 108,539,420 (GRCm39) |
V951A |
possibly 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 |
|
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 |
|
R5509:Senp2
|
UTSW |
16 |
21,859,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation