Incidental Mutation 'R4191:Senp2'
| ID |
318331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp2
|
| Ensembl Gene |
ENSMUSG00000022855 |
| Gene Name |
SUMO/sentrin specific peptidase 2 |
| Synonyms |
4930538C18Rik, 2310007L05Rik |
| MMRRC Submission |
041022-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4191 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
21828234-21868019 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 21865417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 580
(W580L)
|
| 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: W580L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023561
Gene: ENSMUSG00000022855
AA Change: W580L
| 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
|
| Meta Mutation Damage Score |
0.6597 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
95% (57/60) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,207,728 (GRCm39) |
T22A |
probably damaging |
Het |
| Ache |
A |
T |
5: 137,289,334 (GRCm39) |
I347F |
probably damaging |
Het |
| Adgrl1 |
C |
G |
8: 84,665,569 (GRCm39) |
R1464G |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,377,380 (GRCm39) |
D422G |
probably damaging |
Het |
| Cdx1 |
C |
T |
18: 61,153,510 (GRCm39) |
S176N |
possibly damaging |
Het |
| Cimip3 |
C |
T |
17: 47,747,562 (GRCm39) |
R61H |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,710,667 (GRCm39) |
D1536G |
probably damaging |
Het |
| Cyct |
G |
T |
2: 76,184,535 (GRCm39) |
P72Q |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
| Disp1 |
G |
T |
1: 182,870,737 (GRCm39) |
A561E |
probably damaging |
Het |
| Donson |
C |
A |
16: 91,485,480 (GRCm39) |
A41S |
possibly damaging |
Het |
| Gldc |
T |
C |
19: 30,123,058 (GRCm39) |
E279G |
probably damaging |
Het |
| Gpr160 |
A |
T |
3: 30,950,863 (GRCm39) |
I312F |
possibly damaging |
Het |
| H2-Eb2 |
G |
A |
17: 34,563,529 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,031,433 (GRCm39) |
Q457R |
probably benign |
Het |
| Irf2bp2 |
T |
C |
8: 127,320,084 (GRCm39) |
D31G |
probably damaging |
Het |
| Klrb1 |
T |
A |
6: 128,690,597 (GRCm39) |
K42* |
probably null |
Het |
| Lrrfip1 |
A |
T |
1: 91,038,121 (GRCm39) |
E446D |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Maml3 |
A |
G |
3: 51,597,390 (GRCm39) |
V1098A |
probably benign |
Het |
| Mrgpra4 |
T |
C |
7: 47,630,867 (GRCm39) |
S245G |
probably benign |
Het |
| Mybbp1a |
A |
G |
11: 72,342,113 (GRCm39) |
E1283G |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,068,226 (GRCm39) |
S285G |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,475,319 (GRCm39) |
D1876G |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,894,313 (GRCm39) |
Q9L |
probably benign |
Het |
| Or2y14 |
T |
A |
11: 49,404,639 (GRCm39) |
M58K |
probably damaging |
Het |
| Or7g25 |
A |
G |
9: 19,160,383 (GRCm39) |
V104A |
probably benign |
Het |
| Or8c11 |
T |
A |
9: 38,289,648 (GRCm39) |
M157K |
probably damaging |
Het |
| Or8k18 |
C |
A |
2: 86,085,666 (GRCm39) |
V124L |
probably benign |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,675,056 (GRCm39) |
S476P |
probably damaging |
Het |
| Pex10 |
T |
C |
4: 155,152,362 (GRCm39) |
|
probably null |
Het |
| Pgf |
T |
C |
12: 85,218,561 (GRCm39) |
D63G |
probably benign |
Het |
| Piwil4 |
A |
G |
9: 14,626,296 (GRCm39) |
S465P |
probably damaging |
Het |
| Plcb1 |
A |
C |
2: 135,187,010 (GRCm39) |
H759P |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,254,260 (GRCm39) |
M432L |
probably benign |
Het |
| Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
| Rmnd1 |
A |
T |
10: 4,360,809 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
T |
C |
1: 143,646,524 (GRCm39) |
I74V |
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,046,601 (GRCm39) |
C3510Y |
possibly damaging |
Het |
| Tanc1 |
A |
G |
2: 59,669,357 (GRCm39) |
I1274V |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,074,263 (GRCm39) |
E1874G |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,009 (GRCm39) |
T298A |
probably damaging |
Het |
| Tlk1 |
G |
A |
2: 70,555,891 (GRCm39) |
R423C |
probably damaging |
Het |
| Trp53rkb |
T |
C |
2: 166,637,395 (GRCm39) |
I117T |
probably damaging |
Het |
| Ttll9 |
A |
G |
2: 152,844,927 (GRCm39) |
T432A |
probably benign |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Zfp112 |
A |
G |
7: 23,825,568 (GRCm39) |
D512G |
probably benign |
Het |
| Zfyve19 |
A |
G |
2: 119,041,312 (GRCm39) |
K76R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCACTGTGCTTTAGAATCATGTG -3'
(R):5'- GGCCTTCATGCACTCTTGAG -3'
Sequencing Primer
(F):5'- GGTGGCTCACAACCATCTGTAATG -3'
(R):5'- ATGCACTCTTGAGAGCTCAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation