Incidental Mutation 'R8393:Senp2'
| ID |
647497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp2
|
| Ensembl Gene |
ENSMUSG00000022855 |
| Gene Name |
SUMO/sentrin specific peptidase 2 |
| Synonyms |
4930538C18Rik, 2310007L05Rik |
| MMRRC Submission |
067811-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
21828234-21868019 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21850864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 294
(G294R)
|
| 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: G294R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023561
Gene: ENSMUSG00000022855
AA Change: G294R
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232679
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
T |
C |
4: 106,617,390 (GRCm39) |
T239A |
probably benign |
Het |
| Adgrg7 |
A |
G |
16: 56,582,477 (GRCm39) |
S258P |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,871,130 (GRCm39) |
D313E |
probably benign |
Het |
| Caprin2 |
A |
G |
6: 148,770,650 (GRCm39) |
V448A |
probably benign |
Het |
| Casr |
A |
G |
16: 36,330,566 (GRCm39) |
V256A |
probably benign |
Het |
| Cped1 |
A |
G |
6: 22,222,465 (GRCm39) |
T742A |
possibly damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,525,255 (GRCm39) |
R186L |
possibly damaging |
Het |
| Dazl |
A |
T |
17: 50,588,294 (GRCm39) |
S294T |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,947,855 (GRCm39) |
V2982F |
probably damaging |
Het |
| Enpp3 |
C |
A |
10: 24,702,139 (GRCm39) |
C71F |
probably damaging |
Het |
| Fam234a |
A |
G |
17: 26,437,149 (GRCm39) |
C177R |
probably damaging |
Het |
| Fbxl5 |
A |
C |
5: 43,925,433 (GRCm39) |
Y186D |
possibly damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,494 (GRCm39) |
T238A |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,806,815 (GRCm39) |
H2261R |
probably benign |
Het |
| Gm20939 |
C |
T |
17: 95,183,207 (GRCm39) |
H148Y |
probably damaging |
Het |
| Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
| Gpr45 |
C |
A |
1: 43,071,395 (GRCm39) |
H13N |
probably benign |
Het |
| Irf4 |
A |
G |
13: 30,947,610 (GRCm39) |
D438G |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,964 (GRCm39) |
V190A |
probably benign |
Het |
| Klre1 |
A |
T |
6: 129,557,025 (GRCm39) |
K42N |
probably damaging |
Het |
| Lmbrd2 |
C |
T |
15: 9,178,437 (GRCm39) |
T499M |
probably damaging |
Het |
| Lrrc14 |
G |
T |
15: 76,598,398 (GRCm39) |
G345C |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,355,748 (GRCm39) |
H251R |
possibly damaging |
Het |
| Mpnd |
A |
G |
17: 56,323,568 (GRCm39) |
E477G |
probably damaging |
Het |
| Muc17 |
C |
T |
5: 137,171,179 (GRCm39) |
V151I |
|
Het |
| Nckap5l |
A |
C |
15: 99,325,050 (GRCm39) |
C484W |
probably damaging |
Het |
| Npas1 |
C |
T |
7: 16,195,266 (GRCm39) |
S354N |
probably damaging |
Het |
| Or1e25 |
T |
C |
11: 73,494,261 (GRCm39) |
L285P |
probably damaging |
Het |
| Or4k2 |
C |
A |
14: 50,424,342 (GRCm39) |
E112* |
probably null |
Het |
| Or52ab2 |
A |
T |
7: 102,969,668 (GRCm39) |
I17F |
|
Het |
| Or52e3 |
T |
C |
7: 102,869,399 (GRCm39) |
V158A |
probably benign |
Het |
| Or5w11 |
T |
C |
2: 87,459,197 (GRCm39) |
L14P |
probably damaging |
Het |
| Or6c65 |
G |
T |
10: 129,604,304 (GRCm39) |
*313L |
probably null |
Het |
| Or8d4 |
T |
A |
9: 40,038,360 (GRCm39) |
H299L |
probably benign |
Het |
| Pabpc6 |
G |
A |
17: 9,887,435 (GRCm39) |
P372L |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,791,621 (GRCm39) |
N1103D |
probably damaging |
Het |
| Prelid2 |
C |
T |
18: 42,014,313 (GRCm39) |
C171Y |
probably benign |
Het |
| R3hcc1 |
T |
C |
14: 69,942,890 (GRCm39) |
Q229R |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,578,487 (GRCm39) |
V1003A |
probably benign |
Het |
| Rbp3 |
T |
A |
14: 33,678,156 (GRCm39) |
H701Q |
possibly damaging |
Het |
| Resf1 |
A |
T |
6: 149,229,998 (GRCm39) |
T1015S |
possibly damaging |
Het |
| Rmdn2 |
T |
C |
17: 79,975,459 (GRCm39) |
|
probably null |
Het |
| Robo2 |
A |
T |
16: 73,775,382 (GRCm39) |
W451R |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,410,655 (GRCm39) |
M1K |
probably null |
Het |
| Setdb2 |
T |
A |
14: 59,650,180 (GRCm39) |
H478L |
probably benign |
Het |
| Slc12a4 |
G |
T |
8: 106,678,451 (GRCm39) |
A295E |
probably damaging |
Het |
| Slc12a9 |
C |
T |
5: 137,319,698 (GRCm39) |
V606M |
probably damaging |
Het |
| Slc25a30 |
T |
C |
14: 76,012,451 (GRCm39) |
K66E |
probably benign |
Het |
| Slc39a6 |
T |
C |
18: 24,732,331 (GRCm39) |
E319G |
possibly damaging |
Het |
| Sorbs3 |
T |
A |
14: 70,422,360 (GRCm39) |
T617S |
probably benign |
Het |
| Speer4a3 |
A |
T |
5: 26,158,076 (GRCm39) |
V92E |
probably damaging |
Het |
| Spef2 |
T |
G |
15: 9,676,615 (GRCm39) |
D652A |
probably benign |
Het |
| Stag3 |
T |
C |
5: 138,295,017 (GRCm39) |
M347T |
probably damaging |
Het |
| Tecpr2 |
A |
T |
12: 110,911,191 (GRCm39) |
D1076V |
probably damaging |
Het |
| Tor2a |
G |
A |
2: 32,651,648 (GRCm39) |
V288I |
probably benign |
Het |
| Usp30 |
C |
T |
5: 114,259,826 (GRCm39) |
R511* |
probably null |
Het |
| Vezt |
T |
C |
10: 93,832,704 (GRCm39) |
T236A |
probably damaging |
Het |
| Zmynd12 |
A |
T |
4: 119,305,352 (GRCm39) |
D264V |
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 |
|
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 |
|
|
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'- CAGCACTGGTTTTGTTTAGACAC -3'
(R):5'- TGGGGACTGAGATAGATTGACATTG -3'
Sequencing Primer
(F):5'- GAGACAGTCTCATTTAGCTAGCC -3'
(R):5'- TGTCTACGAATTCAAGGCCAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation