Incidental Mutation 'R4435:Senp2'
| ID |
329503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp2
|
| Ensembl Gene |
ENSMUSG00000022855 |
| Gene Name |
SUMO/sentrin specific peptidase 2 |
| Synonyms |
4930538C18Rik, 2310007L05Rik |
| MMRRC Submission |
041149-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4435 (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 A
at 21832991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 93
(V93E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023561]
[ENSMUST00000231632]
[ENSMUST00000231724]
[ENSMUST00000232534]
[ENSMUST00000232679]
|
| AlphaFold |
Q91ZX6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023561
AA Change: V93E
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023561
Gene: ENSMUSG00000022855
AA Change: V93E
| 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 |
noncoding transcript
Transcript: ENSMUST00000231408
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231632
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231724
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231798
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232534
AA Change: V84E
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232679
AA Change: V93E
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,822,900 (GRCm39) |
S523L |
probably damaging |
Het |
| Arap1 |
C |
A |
7: 101,039,461 (GRCm39) |
R574S |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,439,920 (GRCm39) |
I576V |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,597,981 (GRCm39) |
V1283D |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,387,232 (GRCm39) |
|
probably null |
Het |
| Asrgl1 |
C |
T |
19: 9,096,563 (GRCm39) |
V125I |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,320,942 (GRCm39) |
R239G |
probably benign |
Het |
| Cdyl |
T |
C |
13: 36,042,233 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
T |
C |
7: 55,549,789 (GRCm39) |
I650T |
probably damaging |
Het |
| Dennd4c |
C |
A |
4: 86,716,312 (GRCm39) |
Q506K |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,320,588 (GRCm39) |
D1313G |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
| Gm5134 |
T |
G |
10: 75,831,658 (GRCm39) |
S366A |
probably damaging |
Het |
| Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
| Gpn3 |
A |
G |
5: 122,520,115 (GRCm39) |
D223G |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,111,623 (GRCm39) |
Y713H |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,476,234 (GRCm39) |
L14P |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,519,875 (GRCm39) |
N2078K |
possibly damaging |
Het |
| Maf |
T |
A |
8: 116,433,592 (GRCm39) |
E4V |
unknown |
Het |
| Mbtd1 |
T |
A |
11: 93,823,048 (GRCm39) |
D489E |
probably benign |
Het |
| Myrip |
C |
T |
9: 120,164,680 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,345,896 (GRCm39) |
D816G |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,414,764 (GRCm39) |
V934A |
possibly damaging |
Het |
| Or2a12 |
T |
A |
6: 42,905,023 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,229 (GRCm39) |
M81V |
probably benign |
Het |
| Psd |
A |
T |
19: 46,302,933 (GRCm39) |
I158N |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,520,916 (GRCm39) |
V752A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Slc38a4 |
T |
C |
15: 96,906,899 (GRCm39) |
S280G |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,661,473 (GRCm39) |
E666G |
possibly damaging |
Het |
| Strip2 |
T |
C |
6: 29,925,049 (GRCm39) |
V129A |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,818,687 (GRCm39) |
P1450L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,747,219 (GRCm39) |
E4610G |
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,223,636 (GRCm39) |
E212G |
probably damaging |
Het |
| Zc3h18 |
T |
C |
8: 123,140,691 (GRCm39) |
|
probably null |
Het |
| Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGGTGTTTGGAAATAAGACTTT -3'
(R):5'- AGTGTGTAGGGCTGGAGCTA -3'
Sequencing Primer
(F):5'- CACCAAGTGAAGAACAGTCT -3'
(R):5'- CTGGTCTACAAAGTGAGCTCCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation