Incidental Mutation 'R4190:Senp2'
ID 319934
Institutional Source Beutler Lab
Gene Symbol Senp2
Ensembl Gene ENSMUSG00000022855
Gene Name SUMO/sentrin specific peptidase 2
Synonyms 4930538C18Rik, 2310007L05Rik
MMRRC Submission 041021-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4190 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 21828234-21868019 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 21865417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 580 (W580L)
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: W580L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023561
Gene: ENSMUSG00000022855
AA Change: W580L

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
Meta Mutation Damage Score 0.6597 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (50/52)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 T C 12: 84,089,948 (GRCm39) probably benign Het
Adgre1 A G 17: 57,709,811 (GRCm39) Y156C unknown Het
Ankrd13b G A 11: 77,367,201 (GRCm39) A21V probably damaging Het
Atf7ip T C 6: 136,564,499 (GRCm39) V914A probably damaging Het
C230029F24Rik AGAAAG A 1: 49,350,088 (GRCm39) noncoding transcript Het
Calcr T A 6: 3,717,106 (GRCm39) D118V possibly damaging Het
Cdc42bpg T C 19: 6,371,711 (GRCm39) V1330A probably damaging Het
Cfap54 T C 10: 92,720,885 (GRCm39) E2567G unknown Het
Ctse T A 1: 131,590,479 (GRCm39) V67D probably benign Het
Ddx19b A T 8: 111,737,980 (GRCm39) L256Q probably damaging Het
Dipk1b T C 2: 26,526,193 (GRCm39) Y376H probably damaging Het
Fahd2a C T 2: 127,280,486 (GRCm39) V156I probably benign Het
Fam185a T A 5: 21,630,122 (GRCm39) probably benign Het
Fam234a A T 17: 26,432,834 (GRCm39) L467Q probably damaging Het
Gabra2 G A 5: 71,165,341 (GRCm39) P210S probably benign Het
Heatr3 T C 8: 88,864,888 (GRCm39) probably benign Het
Herc2 T C 7: 55,772,196 (GRCm39) V1125A probably benign Het
Itga11 T A 9: 62,639,391 (GRCm39) C129S probably damaging Het
Lama2 A G 10: 27,142,660 (GRCm39) L606P probably damaging Het
Macf1 A G 4: 123,366,835 (GRCm39) F1077S possibly damaging Het
Mtmr10 G T 7: 63,963,934 (GRCm39) W223L probably benign Het
Nlgn1 T A 3: 25,488,062 (GRCm39) T758S probably benign Het
Nr4a1 T C 15: 101,171,993 (GRCm39) S556P probably damaging Het
Or4c126 C A 2: 89,823,918 (GRCm39) Y60* probably null Het
Or5p64 T C 7: 107,855,330 (GRCm39) D5G probably benign Het
Or6c201 T C 10: 128,968,836 (GRCm39) N267S possibly damaging Het
Or6c33 A T 10: 129,853,847 (GRCm39) I206F probably damaging Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Plscr5 T C 9: 92,080,651 (GRCm39) S46P probably benign Het
Ppp2r3d T C 9: 124,424,123 (GRCm38) probably benign Het
Prodh C T 16: 17,891,504 (GRCm39) V480I probably benign Het
Sorcs3 T C 19: 48,737,812 (GRCm39) V743A possibly damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Stab2 G T 10: 86,714,808 (GRCm39) N119K probably damaging Het
Telo2 T C 17: 25,320,987 (GRCm39) T743A probably benign Het
Trav6-1 A G 14: 52,875,976 (GRCm39) N2S probably benign Het
Trmt44 C A 5: 35,732,314 (GRCm39) V26L possibly damaging Het
Ttbk1 A T 17: 46,790,173 (GRCm39) C91S probably damaging Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Vmn2r84 A T 10: 130,227,163 (GRCm39) L225* probably null Het
Vmn2r87 A G 10: 130,308,556 (GRCm39) Y561H probably damaging Het
Yars1 T A 4: 129,093,820 (GRCm39) C60* probably null Het
Zfp202 T C 9: 40,122,633 (GRCm39) V465A probably benign Het
Other mutations in Senp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CCACTGTGCTTTAGAATCATGTG -3'
(R):5'- AGGCCTTCATGCACTCTTGAG -3'

Sequencing Primer
(F):5'- GGTGGCTCACAACCATCTGTAATG -3'
(R):5'- ATGCACTCTTGAGAGCTCAG -3'
Posted On 2015-06-10