Incidental Mutation 'IGL02896:Senp2'
ID |
363413 |
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 # |
IGL02896
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
21828234-21868019 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to G
at 21837118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 122
(Y122*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023561]
[ENSMUST00000231724]
[ENSMUST00000232534]
[ENSMUST00000232679]
|
AlphaFold |
Q91ZX6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023561
AA Change: Y131*
|
SMART Domains |
Protein: ENSMUSP00000023561 Gene: ENSMUSG00000022855 AA Change: Y131*
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 null
Transcript: ENSMUST00000232534
AA Change: Y122*
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402J07Rik |
A |
G |
8: 88,315,648 (GRCm39) |
D246G |
probably damaging |
Het |
Adcy2 |
A |
G |
13: 68,875,991 (GRCm39) |
S504P |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,668,858 (GRCm39) |
I2566K |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,222,946 (GRCm39) |
V1108A |
probably benign |
Het |
Atad2b |
T |
A |
12: 5,008,151 (GRCm39) |
F466I |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,635,886 (GRCm39) |
M226V |
probably damaging |
Het |
D5Ertd579e |
T |
C |
5: 36,771,326 (GRCm39) |
D1023G |
possibly damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,059,205 (GRCm39) |
I232V |
probably benign |
Het |
Dolpp1 |
T |
C |
2: 30,286,242 (GRCm39) |
S114P |
probably damaging |
Het |
Fars2 |
T |
A |
13: 36,388,825 (GRCm39) |
S105T |
probably benign |
Het |
Fndc7 |
T |
C |
3: 108,770,247 (GRCm39) |
I560V |
probably benign |
Het |
Gcn1 |
T |
C |
5: 115,757,707 (GRCm39) |
|
probably benign |
Het |
Gm5134 |
T |
C |
10: 75,810,058 (GRCm39) |
L113P |
possibly damaging |
Het |
Hipk2 |
G |
T |
6: 38,675,382 (GRCm39) |
H1066Q |
probably damaging |
Het |
Katnb1 |
A |
G |
8: 95,822,656 (GRCm39) |
|
probably benign |
Het |
Lrrd1 |
T |
A |
5: 3,901,473 (GRCm39) |
S593T |
probably benign |
Het |
Mastl |
T |
C |
2: 23,021,779 (GRCm39) |
R713G |
probably damaging |
Het |
Meak7 |
T |
C |
8: 120,489,164 (GRCm39) |
D373G |
probably damaging |
Het |
Mrgpra6 |
T |
A |
7: 46,838,655 (GRCm39) |
D181V |
probably benign |
Het |
Mroh7 |
C |
T |
4: 106,557,013 (GRCm39) |
V828I |
possibly damaging |
Het |
Nbeal2 |
A |
G |
9: 110,468,360 (GRCm39) |
|
probably null |
Het |
Nckap5l |
G |
T |
15: 99,325,091 (GRCm39) |
Q471K |
possibly damaging |
Het |
Or12j5 |
T |
C |
7: 140,083,968 (GRCm39) |
|
probably null |
Het |
Or1j15 |
A |
T |
2: 36,459,217 (GRCm39) |
L202F |
possibly damaging |
Het |
Or5an1c |
A |
T |
19: 12,218,353 (GRCm39) |
L224* |
probably null |
Het |
Pfn4 |
A |
G |
12: 4,825,451 (GRCm39) |
N96S |
probably benign |
Het |
Ppp1r3c |
G |
A |
19: 36,710,865 (GRCm39) |
P302S |
probably benign |
Het |
Slc5a7 |
C |
A |
17: 54,600,045 (GRCm39) |
G123* |
probably null |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tent2 |
A |
T |
13: 93,304,945 (GRCm39) |
N280K |
probably damaging |
Het |
Th |
C |
T |
7: 142,449,168 (GRCm39) |
R289Q |
probably damaging |
Het |
Tigit |
C |
T |
16: 43,482,561 (GRCm39) |
V58I |
probably benign |
Het |
Ush1c |
C |
A |
7: 45,847,839 (GRCm39) |
V810L |
probably benign |
Het |
Vmn2r120 |
C |
A |
17: 57,816,008 (GRCm39) |
K782N |
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 |
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 |
2015-12-18 |