Incidental Mutation 'R6762:Senp5'
ID 531761
Institutional Source Beutler Lab
Gene Symbol Senp5
Ensembl Gene ENSMUSG00000022772
Gene Name SUMO/sentrin specific peptidase 5
Synonyms A730063F07Rik, 6230429P13Rik
MMRRC Submission 044878-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6762 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 31778490-31822105 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31808702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 157 (V157A)
Ref Sequence ENSEMBL: ENSMUSP00000115257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023457] [ENSMUST00000129900] [ENSMUST00000155515] [ENSMUST00000231360]
AlphaFold Q6NXL6
Predicted Effect probably damaging
Transcript: ENSMUST00000023457
AA Change: V184A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023457
Gene: ENSMUSG00000022772
AA Change: V184A

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
low complexity region 441 452 N/A INTRINSIC
Pfam:Peptidase_C48 575 747 3.9e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121984
Predicted Effect probably damaging
Transcript: ENSMUST00000129900
AA Change: V157A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115257
Gene: ENSMUSG00000022772
AA Change: V157A

DomainStartEndE-ValueType
low complexity region 414 425 N/A INTRINSIC
Pfam:Peptidase_C48 548 603 5.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144320
Predicted Effect probably benign
Transcript: ENSMUST00000155515
SMART Domains Protein: ENSMUSP00000117481
Gene: ENSMUSG00000022772

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Pfam:Peptidase_C48 156 208 2.7e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231360
AA Change: V184A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232628
Meta Mutation Damage Score 0.1979 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP5, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 103,976,867 (GRCm39) Y27H probably benign Het
Angptl3 T A 4: 98,925,654 (GRCm39) S327T possibly damaging Het
Arl6ip4 GGAAGAAGAAGAAGAAGAA GGAAGAAGAAGAAGAAGAAGAA 5: 124,255,113 (GRCm39) probably benign Het
Cyp2s1 A T 7: 25,507,495 (GRCm39) L318H probably damaging Het
Dnah14 T C 1: 181,584,824 (GRCm39) L3185P probably damaging Het
Dnah7b T C 1: 46,263,902 (GRCm39) V2128A probably benign Het
Ehhadh A T 16: 21,581,209 (GRCm39) F594L probably benign Het
En2 A G 5: 28,375,351 (GRCm39) N298S possibly damaging Het
Epha5 T A 5: 84,479,585 (GRCm39) N140Y probably damaging Het
Fam151b C T 13: 92,604,558 (GRCm39) V144I possibly damaging Het
Fanca C A 8: 123,998,042 (GRCm39) A1215S probably benign Het
Fancd2 T A 6: 113,562,977 (GRCm39) probably null Het
Fat2 T C 11: 55,144,308 (GRCm39) probably null Het
Gm4513 T C 7: 20,328,118 (GRCm39) N31S probably benign Het
Hspg2 A T 4: 137,279,114 (GRCm39) I3066F possibly damaging Het
Krt10 T C 11: 99,277,883 (GRCm39) T355A possibly damaging Het
Lims1 C A 10: 58,248,367 (GRCm39) H275N probably damaging Het
Map3k19 C T 1: 127,775,001 (GRCm39) G112D probably damaging Het
Mdn1 T A 4: 32,676,786 (GRCm39) N619K possibly damaging Het
Mtor A G 4: 148,622,938 (GRCm39) T1977A possibly damaging Het
Nos2 T G 11: 78,850,574 (GRCm39) L1144R possibly damaging Het
Or52ae7 G C 7: 103,119,596 (GRCm39) V117L probably benign Het
Or6c68 G A 10: 129,158,125 (GRCm39) C211Y probably damaging Het
Or8k38 A T 2: 86,488,188 (GRCm39) F205I probably benign Het
Pals2 T A 6: 50,157,418 (GRCm39) probably null Het
Pcdhga9 C A 18: 37,870,321 (GRCm39) S50Y probably damaging Het
Pfn4 T A 12: 4,825,487 (GRCm39) M108K probably damaging Het
Prep T C 10: 45,024,219 (GRCm39) probably null Het
Qtrt1 T A 9: 21,323,378 (GRCm39) H76Q probably damaging Het
Rpa1 T A 11: 75,231,171 (GRCm39) S73C possibly damaging Het
Snapc3 T C 4: 83,353,495 (GRCm39) L178P probably damaging Het
Sptbn4 A G 7: 27,093,633 (GRCm39) F1340L probably damaging Het
Srd5a3 T A 5: 76,301,398 (GRCm39) I85K probably benign Het
Taar2 C T 10: 23,817,300 (GRCm39) T280M probably damaging Het
Tgfb3 T C 12: 86,116,237 (GRCm39) D177G probably benign Het
Tpt1 A G 14: 76,083,821 (GRCm39) D94G probably benign Het
Trpm4 A G 7: 44,954,240 (GRCm39) probably benign Het
Trpv4 C T 5: 114,763,171 (GRCm39) R746H probably benign Het
Txndc2 T C 17: 65,945,967 (GRCm39) D70G probably damaging Het
Ugcg T A 4: 59,219,530 (GRCm39) I289N possibly damaging Het
Vmn2r2 C G 3: 64,041,870 (GRCm39) D282H probably damaging Het
Vmn2r50 A T 7: 9,787,010 (GRCm39) N32K probably benign Het
Wdpcp C T 11: 21,671,244 (GRCm39) T495I probably benign Het
Zfp961 T A 8: 72,719,958 (GRCm39) C51S possibly damaging Het
Zxdc C T 6: 90,359,165 (GRCm39) A599V probably benign Het
Other mutations in Senp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Senp5 APN 16 31,807,991 (GRCm39) missense probably damaging 1.00
IGL00990:Senp5 APN 16 31,809,092 (GRCm39) missense probably benign 0.00
IGL01707:Senp5 APN 16 31,808,588 (GRCm39) missense probably damaging 0.99
IGL01923:Senp5 APN 16 31,784,634 (GRCm39) missense probably damaging 1.00
IGL01997:Senp5 APN 16 31,782,288 (GRCm39) missense probably damaging 0.97
IGL02273:Senp5 APN 16 31,808,690 (GRCm39) missense probably benign 0.14
IGL02560:Senp5 APN 16 31,808,210 (GRCm39) missense probably benign
IGL02651:Senp5 APN 16 31,808,897 (GRCm39) missense probably benign 0.04
IGL02830:Senp5 APN 16 31,802,303 (GRCm39) splice site probably benign
R0578:Senp5 UTSW 16 31,808,163 (GRCm39) missense possibly damaging 0.75
R1879:Senp5 UTSW 16 31,802,642 (GRCm39) missense probably damaging 1.00
R2153:Senp5 UTSW 16 31,787,692 (GRCm39) missense probably damaging 1.00
R4903:Senp5 UTSW 16 31,802,117 (GRCm39) missense probably damaging 1.00
R5092:Senp5 UTSW 16 31,807,960 (GRCm39) missense probably benign 0.00
R5590:Senp5 UTSW 16 31,808,331 (GRCm39) missense probably damaging 0.99
R6346:Senp5 UTSW 16 31,802,665 (GRCm39) missense probably damaging 1.00
R6362:Senp5 UTSW 16 31,808,702 (GRCm39) missense probably damaging 0.99
R7002:Senp5 UTSW 16 31,802,593 (GRCm39) missense probably damaging 1.00
R7027:Senp5 UTSW 16 31,808,113 (GRCm39) missense probably benign
R7436:Senp5 UTSW 16 31,794,847 (GRCm39) missense unknown
R7721:Senp5 UTSW 16 31,809,252 (GRCm39) start codon destroyed unknown
R7847:Senp5 UTSW 16 31,808,991 (GRCm39) missense probably benign 0.25
R7992:Senp5 UTSW 16 31,796,514 (GRCm39) missense probably damaging 1.00
R8081:Senp5 UTSW 16 31,784,577 (GRCm39) missense probably damaging 1.00
R8147:Senp5 UTSW 16 31,808,128 (GRCm39) missense probably benign 0.00
R8313:Senp5 UTSW 16 31,808,117 (GRCm39) missense probably benign 0.10
R8353:Senp5 UTSW 16 31,808,166 (GRCm39) missense probably benign 0.00
R8453:Senp5 UTSW 16 31,808,166 (GRCm39) missense probably benign 0.00
R8506:Senp5 UTSW 16 31,787,719 (GRCm39) missense probably damaging 1.00
R9079:Senp5 UTSW 16 31,787,718 (GRCm39) missense probably damaging 1.00
R9317:Senp5 UTSW 16 31,802,390 (GRCm39) missense probably damaging 1.00
R9776:Senp5 UTSW 16 31,782,279 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCCTTTCTTAGCTTGCAAAC -3'
(R):5'- GCTTGGACCATAAATACTGCAG -3'

Sequencing Primer
(F):5'- GCTGGGATCTGAAAATCCTATACCG -3'
(R):5'- TACTGCAGAGAGAAAAGCCTTCTG -3'
Posted On 2018-08-29