Incidental Mutation 'IGL03244:Senp2'
ID414349
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Senp2
Ensembl Gene ENSMUSG00000022855
Gene NameSUMO/sentrin specific peptidase 2
Synonyms4930538C18Rik, 2310007L05Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03244
Quality Score
Status
Chromosome16
Chromosomal Location22009484-22049269 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 22040579 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 460 (V460A)
Ref Sequence ENSEMBL: ENSMUSP00000023561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023561] [ENSMUST00000231724] [ENSMUST00000232679]
Predicted Effect probably damaging
Transcript: ENSMUST00000023561
AA Change: V460A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023561
Gene: ENSMUSG00000022855
AA Change: V460A

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 probably benign
Transcript: ENSMUST00000231724
Predicted Effect probably benign
Transcript: ENSMUST00000231798
Predicted Effect probably benign
Transcript: ENSMUST00000232263
Predicted Effect probably benign
Transcript: ENSMUST00000232679
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aoc1 T C 6: 48,905,822 Y233H possibly damaging Het
Apaf1 A T 10: 91,049,349 probably benign Het
Asah2 T C 19: 31,986,942 Y696C probably damaging Het
Atp8b3 A T 10: 80,534,458 D112E probably damaging Het
B3gat3 T C 19: 8,925,851 Y191H probably damaging Het
Capns2 T C 8: 92,902,110 I209T probably damaging Het
Ccnl2 T C 4: 155,821,022 I303T probably benign Het
Cdk5rap2 A T 4: 70,281,435 S817R probably benign Het
Cep57 A T 9: 13,818,387 L36* probably null Het
Cers4 T A 8: 4,516,878 V60E probably damaging Het
Ces2e T C 8: 104,928,819 Y125H probably benign Het
Cyp4f18 T C 8: 71,988,645 E497G probably benign Het
Ddx24 A T 12: 103,417,605 M575K possibly damaging Het
Dmxl2 A T 9: 54,416,371 V1243E probably damaging Het
Elf2 A T 3: 51,257,772 Y270* probably null Het
Ep400 A G 5: 110,727,563 L844S unknown Het
F13a1 A T 13: 36,988,896 I170N possibly damaging Het
Gm16506 T A 14: 43,724,146 probably benign Het
Grm4 A G 17: 27,434,823 F463L probably damaging Het
H2-M10.2 A T 17: 36,285,571 N127K probably benign Het
Lrrc49 T C 9: 60,587,857 Y691C probably damaging Het
Mbip A C 12: 56,337,762 probably null Het
Olfr825 T A 10: 130,162,400 K309* probably null Het
Plod1 C T 4: 147,923,123 probably null Het
Primpol A G 8: 46,586,440 W382R probably damaging Het
Rufy2 A G 10: 63,004,704 E418G probably benign Het
Samm50 T C 15: 84,214,140 V460A probably benign Het
Simc1 A G 13: 54,550,629 H453R probably benign Het
Slc22a22 A G 15: 57,249,552 probably benign Het
Spag1 A T 15: 36,234,383 D763V probably benign Het
Thsd7a T A 6: 12,504,168 probably benign Het
Tppp G T 13: 74,021,416 V92F possibly damaging Het
Vmn1r32 G A 6: 66,553,505 L96F probably damaging Het
Vmn2r53 C A 7: 12,606,508 A13S probably damaging Het
Vmn2r75 G A 7: 86,171,725 probably benign Het
Zfp750 C A 11: 121,513,687 G121* probably null Het
Other mutations in Senp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Senp2 APN 16 22018364 missense probably damaging 1.00
IGL01562:Senp2 APN 16 22009687 missense probably damaging 1.00
IGL01757:Senp2 APN 16 22009664 missense probably benign 0.13
IGL02593:Senp2 APN 16 22044271 missense probably damaging 1.00
IGL02896:Senp2 APN 16 22018368 nonsense probably null
IGL03219:Senp2 APN 16 22014264 splice site probably benign
PIT1430001:Senp2 UTSW 16 22014114 splice site probably benign
R0410:Senp2 UTSW 16 22009694 missense probably damaging 0.99
R0511:Senp2 UTSW 16 22036570 missense probably benign 0.01
R1186:Senp2 UTSW 16 22011504 missense probably damaging 0.99
R1689:Senp2 UTSW 16 22026666 missense probably damaging 0.98
R1723:Senp2 UTSW 16 22028042 missense probably benign 0.00
R1776:Senp2 UTSW 16 22043060 splice site probably benign
R2056:Senp2 UTSW 16 22014199 missense probably damaging 1.00
R2058:Senp2 UTSW 16 22014199 missense probably damaging 1.00
R2371:Senp2 UTSW 16 22018375 missense possibly damaging 0.86
R3838:Senp2 UTSW 16 22009735 missense probably damaging 0.99
R3839:Senp2 UTSW 16 22009735 missense probably damaging 0.99
R4001:Senp2 UTSW 16 22028568 missense possibly damaging 0.95
R4190:Senp2 UTSW 16 22046667 missense probably damaging 1.00
R4191:Senp2 UTSW 16 22046667 missense probably damaging 1.00
R4193:Senp2 UTSW 16 22046667 missense probably damaging 1.00
R4231:Senp2 UTSW 16 22011554 critical splice donor site probably null
R4435:Senp2 UTSW 16 22014241 missense possibly damaging 0.83
R4847:Senp2 UTSW 16 22038636 missense possibly damaging 0.90
R5207:Senp2 UTSW 16 22041380 missense possibly damaging 0.52
R5509:Senp2 UTSW 16 22040522 missense probably damaging 1.00
R6036:Senp2 UTSW 16 22028558 nonsense probably null
R6036:Senp2 UTSW 16 22028558 nonsense probably null
R6475:Senp2 UTSW 16 22023800 missense probably damaging 1.00
R6517:Senp2 UTSW 16 22026724 missense possibly damaging 0.95
R6923:Senp2 UTSW 16 22011576 intron probably benign
R7287:Senp2 UTSW 16 22018364 missense probably damaging 1.00
Posted On2016-08-02