Incidental Mutation 'R3838:Senp2'
| ID |
277026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp2
|
| Ensembl Gene |
ENSMUSG00000022855 |
| Gene Name |
SUMO/sentrin specific peptidase 2 |
| Synonyms |
4930538C18Rik, 2310007L05Rik |
| MMRRC Submission |
040779-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3838 (G1)
|
| Quality Score |
110 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
21828234-21868019 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21828485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 32
(S32P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023561]
[ENSMUST00000231632]
[ENSMUST00000231724]
[ENSMUST00000232534]
[ENSMUST00000232679]
|
| AlphaFold |
Q91ZX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023561
AA Change: S32P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023561
Gene: ENSMUSG00000022855
AA Change: S32P
| 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 damaging
Transcript: ENSMUST00000231724
AA Change: S32P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231798
AA Change: S28P
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232534
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232679
AA Change: S32P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.0746 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.8%
- 20x: 96.4%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
G |
13: 60,993,041 (GRCm39) |
Y213H |
probably damaging |
Het |
| Alg8 |
C |
T |
7: 97,037,752 (GRCm39) |
H379Y |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,122,559 (GRCm39) |
E980G |
possibly damaging |
Het |
| Aspm |
C |
T |
1: 139,405,792 (GRCm39) |
H1560Y |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,085,499 (GRCm39) |
I150K |
probably damaging |
Het |
| Bud13 |
A |
C |
9: 46,201,490 (GRCm39) |
Q387P |
possibly damaging |
Het |
| Champ1 |
A |
G |
8: 13,929,939 (GRCm39) |
Y699C |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,722,790 (GRCm39) |
E476G |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 97,886,857 (GRCm39) |
D345G |
unknown |
Het |
| Col2a1 |
A |
T |
15: 97,898,462 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Dnajb2 |
G |
A |
1: 75,218,124 (GRCm39) |
|
probably null |
Het |
| Dock4 |
G |
T |
12: 40,844,623 (GRCm39) |
|
probably null |
Het |
| Epx |
A |
T |
11: 87,765,656 (GRCm39) |
L101Q |
probably damaging |
Het |
| F13a1 |
A |
T |
13: 37,231,398 (GRCm39) |
N21K |
probably damaging |
Het |
| Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
| Foxj3 |
T |
A |
4: 119,473,821 (GRCm39) |
H215Q |
possibly damaging |
Het |
| Gcnt4 |
A |
T |
13: 97,083,522 (GRCm39) |
R273* |
probably null |
Het |
| Gpam |
T |
C |
19: 55,068,890 (GRCm39) |
N450S |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,303,419 (GRCm39) |
L3020P |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,795,597 (GRCm39) |
I324T |
probably benign |
Het |
| Ighmbp2 |
T |
C |
19: 3,321,658 (GRCm39) |
Y367C |
probably benign |
Het |
| Lrrc14b |
A |
G |
13: 74,511,664 (GRCm39) |
C139R |
possibly damaging |
Het |
| Lsamp |
A |
T |
16: 41,954,675 (GRCm39) |
E174V |
possibly damaging |
Het |
| Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msn |
C |
A |
X: 95,203,805 (GRCm39) |
Q303K |
probably damaging |
Het |
| Myh7b |
A |
G |
2: 155,474,909 (GRCm39) |
K1816E |
probably damaging |
Het |
| Nap1l1 |
T |
A |
10: 111,331,183 (GRCm39) |
|
probably null |
Het |
| Nme2 |
T |
A |
11: 93,840,803 (GRCm39) |
E252D |
probably benign |
Het |
| Ntpcr |
G |
A |
8: 126,464,111 (GRCm39) |
V79M |
probably damaging |
Het |
| Ogdh |
C |
T |
11: 6,288,627 (GRCm39) |
R235* |
probably null |
Het |
| Or10d1 |
A |
G |
9: 39,484,267 (GRCm39) |
V96A |
probably benign |
Het |
| Or10w1 |
A |
G |
19: 13,632,321 (GRCm39) |
D176G |
probably benign |
Het |
| Or9k2 |
C |
A |
10: 129,998,275 (GRCm39) |
E307* |
probably null |
Het |
| P3r3urf |
A |
G |
4: 116,030,718 (GRCm39) |
T41A |
probably benign |
Het |
| Pcdh20 |
T |
C |
14: 88,705,899 (GRCm39) |
N467S |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,604,853 (GRCm39) |
T1154I |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,898,711 (GRCm39) |
R2157I |
probably damaging |
Het |
| Reep6 |
C |
A |
10: 80,171,723 (GRCm39) |
A533E |
probably damaging |
Het |
| Septin11 |
T |
A |
5: 93,296,258 (GRCm39) |
I52N |
probably damaging |
Het |
| Shld2 |
T |
C |
14: 33,967,325 (GRCm39) |
D77G |
probably benign |
Het |
| Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
| Spdye4b |
C |
T |
5: 143,178,084 (GRCm39) |
T11I |
probably benign |
Het |
| Srrt |
C |
T |
5: 137,300,387 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
A |
6: 48,457,754 (GRCm39) |
C3085S |
probably damaging |
Het |
| Stim1 |
C |
T |
7: 102,060,503 (GRCm39) |
T182I |
possibly damaging |
Het |
| Thbs2 |
C |
A |
17: 14,908,113 (GRCm39) |
V217L |
probably benign |
Het |
| Thpo |
G |
A |
16: 20,547,498 (GRCm39) |
R38C |
probably damaging |
Het |
| Tmem210 |
A |
G |
2: 25,178,444 (GRCm39) |
E35G |
possibly damaging |
Het |
| Trim12c |
T |
A |
7: 103,990,075 (GRCm39) |
|
probably benign |
Het |
| Tvp23b |
A |
G |
11: 62,774,455 (GRCm39) |
H33R |
possibly damaging |
Het |
| Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
| Vmn2r73 |
A |
G |
7: 85,507,258 (GRCm39) |
W685R |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,051,801 (GRCm39) |
A861T |
probably benign |
Het |
| Zfp715 |
A |
G |
7: 42,949,180 (GRCm39) |
V260A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGATGGCGTCACAAGTCC -3'
(R):5'- GCAAACTCCTAACCTAGTGACTCG -3'
Sequencing Primer
(F):5'- TGATCCTGGCTACGGCTGAAG -3'
(R):5'- AACCTAGTGACTCGCTCCTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation