Incidental Mutation 'IGL01562:Senp2'
ID 90866
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Senp2
Ensembl Gene ENSMUSG00000022855
Gene Name SUMO/sentrin specific peptidase 2
Synonyms 4930538C18Rik, 2310007L05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01562
Quality Score
Status
Chromosome 16
Chromosomal Location 21828234-21868019 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21828437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 16 (C16R)
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: C16R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023561
Gene: ENSMUSG00000022855
AA Change: C16R

DomainStartEndE-ValueType
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: C16R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect unknown
Transcript: ENSMUST00000231798
AA Change: C12R
Predicted Effect probably benign
Transcript: ENSMUST00000232534
Predicted Effect probably damaging
Transcript: ENSMUST00000232679
AA Change: C16R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Crym A G 7: 119,794,622 (GRCm39) V199A probably damaging Het
Dsel T C 1: 111,788,049 (GRCm39) T829A probably benign Het
Frg1 T C 8: 41,869,946 (GRCm39) K18R possibly damaging Het
H2-M10.5 A G 17: 37,084,668 (GRCm39) S131G possibly damaging Het
Ift172 A T 5: 31,424,591 (GRCm39) I701N probably damaging Het
Il5ra T C 6: 106,708,865 (GRCm39) I292V probably benign Het
Nup98 A G 7: 101,835,125 (GRCm39) S243P probably damaging Het
Pramel16 A G 4: 143,677,435 (GRCm39) L48S probably damaging Het
Ptgis T C 2: 167,048,750 (GRCm39) Y422C probably damaging Het
St7 T A 6: 17,922,034 (GRCm39) L411Q probably damaging Het
Tanc2 A T 11: 105,670,895 (GRCm39) Y164F probably benign Het
Ttc23l T C 15: 10,551,476 (GRCm39) probably benign Het
Vmn2r66 G T 7: 84,656,495 (GRCm39) Q174K probably benign Het
Wrap73 A G 4: 154,229,794 (GRCm39) E55G possibly damaging Het
Other mutations in Senp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Senp2 APN 16 21,837,114 (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
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
Posted On 2013-12-09