Incidental Mutation 'R6036:Senp2'
| ID |
479235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp2
|
| Ensembl Gene |
ENSMUSG00000022855 |
| Gene Name |
SUMO/sentrin specific peptidase 2 |
| Synonyms |
4930538C18Rik, 2310007L05Rik |
| MMRRC Submission |
043257-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6036 (G1)
|
| Quality Score |
115.008 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22009484-22049269 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 22028558 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 279
(R279*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023561]
[ENSMUST00000231724]
[ENSMUST00000232534]
[ENSMUST00000232679]
|
| AlphaFold |
Q91ZX6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023561
AA Change: R279*
|
| SMART Domains |
Protein: ENSMUSP00000023561
Gene: ENSMUSG00000022855
AA Change: R279*
| 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: ENSMUST00000232534
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232679
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.0%
- 10x: 92.6%
- 20x: 72.9%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3 |
T |
C |
11: 95,832,858 (GRCm38) |
|
probably benign |
Het |
| Ago1 |
C |
T |
4: 126,443,228 (GRCm38) |
R228H |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 81,093,257 (GRCm38) |
V941M |
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,982,265 (GRCm38) |
W588R |
possibly damaging |
Het |
| Atp6v1a |
A |
G |
16: 44,098,831 (GRCm38) |
Y464H |
probably benign |
Het |
| Barx2 |
A |
T |
9: 31,913,008 (GRCm38) |
D28E |
probably damaging |
Het |
| Cabp5 |
A |
T |
7: 13,401,335 (GRCm38) |
M67L |
probably damaging |
Het |
| Col10a1 |
A |
G |
10: 34,395,282 (GRCm38) |
T417A |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,458,920 (GRCm38) |
R2399Q |
probably benign |
Het |
| Eif4enif1 |
T |
C |
11: 3,239,420 (GRCm38) |
S227P |
probably damaging |
Het |
| Erv3 |
G |
A |
2: 131,856,005 (GRCm38) |
H145Y |
possibly damaging |
Het |
| Exoc5 |
T |
C |
14: 49,014,322 (GRCm38) |
T591A |
possibly damaging |
Het |
| F5 |
A |
T |
1: 164,184,996 (GRCm38) |
E493V |
probably damaging |
Het |
| Gm8444 |
G |
T |
15: 81,843,593 (GRCm38) |
|
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,537,646 (GRCm38) |
I221L |
probably benign |
Het |
| Hc |
T |
C |
2: 35,039,684 (GRCm38) |
T249A |
probably benign |
Het |
| Herc2 |
A |
G |
7: 56,068,053 (GRCm38) |
T48A |
probably benign |
Het |
| Hist1h2bl |
A |
T |
13: 21,715,978 (GRCm38) |
S56T |
probably damaging |
Het |
| Hp |
A |
G |
8: 109,576,774 (GRCm38) |
|
probably null |
Het |
| Ifna15 |
T |
G |
4: 88,558,073 (GRCm38) |
D58A |
possibly damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,397,125 (GRCm38) |
M262L |
probably benign |
Het |
| Krt83 |
A |
C |
15: 101,487,531 (GRCm38) |
I320S |
possibly damaging |
Het |
| Megf10 |
A |
G |
18: 57,242,727 (GRCm38) |
N242D |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,128,411 (GRCm38) |
T451A |
probably benign |
Het |
| Olfr1277 |
C |
T |
2: 111,269,612 (GRCm38) |
G252R |
probably damaging |
Het |
| Olfr1288 |
T |
C |
2: 111,478,988 (GRCm38) |
L68P |
probably damaging |
Het |
| Olfr559 |
T |
A |
7: 102,724,485 (GRCm38) |
I2F |
probably benign |
Het |
| Olfr701 |
A |
T |
7: 106,818,460 (GRCm38) |
I126F |
probably damaging |
Het |
| Olfr930 |
A |
G |
9: 38,930,920 (GRCm38) |
I250V |
probably damaging |
Het |
| Pdzd8 |
G |
A |
19: 59,305,209 (GRCm38) |
P403S |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,114,948 (GRCm38) |
Q494* |
probably null |
Het |
| Plag1 |
T |
C |
4: 3,904,618 (GRCm38) |
E191G |
possibly damaging |
Het |
| Pou4f2 |
A |
T |
8: 78,435,474 (GRCm38) |
S167T |
probably damaging |
Het |
| Scd4 |
G |
A |
19: 44,344,792 (GRCm38) |
D319N |
probably damaging |
Het |
| Sh3rf3 |
G |
A |
10: 58,813,984 (GRCm38) |
G137D |
probably benign |
Het |
| Simc1 |
C |
T |
13: 54,524,621 (GRCm38) |
P261S |
probably benign |
Het |
| Slc26a1 |
T |
A |
5: 108,673,570 (GRCm38) |
D151V |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,738,437 (GRCm38) |
|
probably null |
Het |
| Stard9 |
C |
T |
2: 120,700,075 (GRCm38) |
A2271V |
probably benign |
Het |
| Stat6 |
A |
G |
10: 127,655,444 (GRCm38) |
N485D |
possibly damaging |
Het |
| Tpcn2 |
T |
C |
7: 145,268,869 (GRCm38) |
T280A |
possibly damaging |
Het |
| Ttc23 |
A |
G |
7: 67,711,366 (GRCm38) |
I378V |
possibly damaging |
Het |
| Ttc29 |
A |
G |
8: 78,325,576 (GRCm38) |
D362G |
probably benign |
Het |
| Ttll7 |
A |
G |
3: 146,940,162 (GRCm38) |
I592V |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,086 (GRCm38) |
H107L |
probably benign |
Het |
| Vmn1r70 |
A |
G |
7: 10,633,903 (GRCm38) |
Q87R |
probably damaging |
Het |
| Wdfy4 |
G |
T |
14: 33,146,990 (GRCm38) |
S360R |
probably damaging |
Het |
| Zfp780b |
A |
G |
7: 27,963,568 (GRCm38) |
Y521H |
probably damaging |
Het |
|
| Other mutations in Senp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00788:Senp2
|
APN |
16 |
22,018,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01562:Senp2
|
APN |
16 |
22,009,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01757:Senp2
|
APN |
16 |
22,009,664 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL02593:Senp2
|
APN |
16 |
22,044,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02896:Senp2
|
APN |
16 |
22,018,368 (GRCm38) |
nonsense |
probably null |
|
|
IGL03219:Senp2
|
APN |
16 |
22,014,264 (GRCm38) |
splice site |
probably benign |
|
|
IGL03244:Senp2
|
APN |
16 |
22,040,579 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Jessie
|
UTSW |
16 |
22,018,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
wrangler
|
UTSW |
16 |
22,028,594 (GRCm38) |
critical splice donor site |
probably null |
|
|
wrestler
|
UTSW |
16 |
22,038,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Senp2
|
UTSW |
16 |
22,014,114 (GRCm38) |
splice site |
probably benign |
|
|
R0410:Senp2
|
UTSW |
16 |
22,009,694 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0511:Senp2
|
UTSW |
16 |
22,036,570 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1186:Senp2
|
UTSW |
16 |
22,011,504 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1689:Senp2
|
UTSW |
16 |
22,026,666 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1723:Senp2
|
UTSW |
16 |
22,028,042 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1776:Senp2
|
UTSW |
16 |
22,043,060 (GRCm38) |
splice site |
probably benign |
|
|
R2056:Senp2
|
UTSW |
16 |
22,014,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2058:Senp2
|
UTSW |
16 |
22,014,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2371:Senp2
|
UTSW |
16 |
22,018,375 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R3838:Senp2
|
UTSW |
16 |
22,009,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3839:Senp2
|
UTSW |
16 |
22,009,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4001:Senp2
|
UTSW |
16 |
22,028,568 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4190:Senp2
|
UTSW |
16 |
22,046,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4191:Senp2
|
UTSW |
16 |
22,046,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4193:Senp2
|
UTSW |
16 |
22,046,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4231:Senp2
|
UTSW |
16 |
22,011,554 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4435:Senp2
|
UTSW |
16 |
22,014,241 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4847:Senp2
|
UTSW |
16 |
22,038,636 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5207:Senp2
|
UTSW |
16 |
22,041,380 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R5509:Senp2
|
UTSW |
16 |
22,040,522 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6036:Senp2
|
UTSW |
16 |
22,028,558 (GRCm38) |
nonsense |
probably null |
|
|
R6475:Senp2
|
UTSW |
16 |
22,023,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6517:Senp2
|
UTSW |
16 |
22,026,724 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6923:Senp2
|
UTSW |
16 |
22,011,576 (GRCm38) |
intron |
probably benign |
|
|
R7287:Senp2
|
UTSW |
16 |
22,018,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7747:Senp2
|
UTSW |
16 |
22,038,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7884:Senp2
|
UTSW |
16 |
22,014,231 (GRCm38) |
missense |
probably benign |
0.39 |
|
R8037:Senp2
|
UTSW |
16 |
22,014,138 (GRCm38) |
nonsense |
probably null |
|
|
R8393:Senp2
|
UTSW |
16 |
22,032,114 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8805:Senp2
|
UTSW |
16 |
22,028,039 (GRCm38) |
missense |
probably benign |
|
|
R9216:Senp2
|
UTSW |
16 |
22,028,594 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9426:Senp2
|
UTSW |
16 |
22,009,741 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9479:Senp2
|
UTSW |
16 |
22,023,648 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9592:Senp2
|
UTSW |
16 |
22,026,685 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
Z1177:Senp2
|
UTSW |
16 |
22,009,705 (GRCm38) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
|
| Posted On |
2017-06-26 |
Incidental Mutation