Incidental Mutation 'R5301:Desi2'
ID 404228
Institutional Source Beutler Lab
Gene Symbol Desi2
Ensembl Gene ENSMUSG00000026502
Gene Name desumoylating isopeptidase 2
Synonyms Pppde1, Fam152a, 5830417C01Rik
MMRRC Submission 042884-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R5301 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 178014983-178080164 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 178071952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 85 (I85M)
Ref Sequence ENSEMBL: ENSMUSP00000027783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027783] [ENSMUST00000159284] [ENSMUST00000161075]
AlphaFold Q9D291
Predicted Effect probably benign
Transcript: ENSMUST00000027783
AA Change: I85M

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027783
Gene: ENSMUSG00000026502
AA Change: I85M

DomainStartEndE-ValueType
DUF862 5 150 1.92e-59 SMART
low complexity region 160 184 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159284
AA Change: I69M

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000123860
Gene: ENSMUSG00000026502
AA Change: I69M

DomainStartEndE-ValueType
DUF862 1 134 3.39e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161075
AA Change: I69M

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124658
Gene: ENSMUSG00000026502
AA Change: I69M

DomainStartEndE-ValueType
DUF862 1 134 3.39e-46 SMART
low complexity region 144 168 N/A INTRINSIC
Meta Mutation Damage Score 0.0856 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 93% (52/56)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out mouse exhibit normal body size, body weight, brain size, brain weight and neuron apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,896,502 (GRCm39) V578A probably damaging Het
Abcb11 T C 2: 69,117,191 (GRCm39) I486V probably damaging Het
Abcc9 G A 6: 142,536,207 (GRCm39) T1509I probably benign Het
Akr1c20 T A 13: 4,573,279 (GRCm39) D12V probably damaging Het
Asb1 A G 1: 91,482,475 (GRCm39) Y66C probably damaging Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Bcl10 A G 3: 145,636,342 (GRCm39) D80G probably damaging Het
Bdnf T C 2: 109,553,884 (GRCm39) V46A probably benign Het
Cyp11a1 A G 9: 57,926,544 (GRCm39) probably benign Het
Cyp3a44 A G 5: 145,725,326 (GRCm39) S292P probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock10 T C 1: 80,625,973 (GRCm39) D49G probably benign Het
Epcam T A 17: 87,944,305 (GRCm39) L20Q possibly damaging Het
Ercc4 T C 16: 12,948,550 (GRCm39) V589A probably damaging Het
Fcgbp A T 7: 27,793,099 (GRCm39) K1034N possibly damaging Het
Fras1 C T 5: 96,805,125 (GRCm39) L1256F possibly damaging Het
Gata5 T C 2: 179,975,786 (GRCm39) Y126C probably damaging Het
Gja1 T C 10: 56,264,475 (GRCm39) L278P probably damaging Het
Gm11596 C A 11: 99,683,847 (GRCm39) R91L unknown Het
Gm29125 A T 1: 80,362,154 (GRCm39) noncoding transcript Het
Hcrtr1 G T 4: 130,031,463 (GRCm39) probably null Het
Ifi207 G A 1: 173,556,977 (GRCm39) S587L possibly damaging Het
Ino80d T C 1: 63,113,578 (GRCm39) T291A probably benign Het
Itgb3 A G 11: 104,524,480 (GRCm39) probably null Het
Kif26b A G 1: 178,358,233 (GRCm39) S115G unknown Het
Klc3 T C 7: 19,130,274 (GRCm39) Y301C probably damaging Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Meioc A T 11: 102,570,871 (GRCm39) R867S probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mthfd2 C A 6: 83,287,465 (GRCm39) G200V probably damaging Het
Nrap A G 19: 56,367,541 (GRCm39) I312T probably damaging Het
Nrp1 T G 8: 129,160,678 (GRCm39) probably null Het
Obscn A G 11: 59,026,234 (GRCm39) L323P probably damaging Het
Or11g1 T C 14: 50,651,030 (GRCm39) S10P probably benign Het
Or1b1 C T 2: 36,995,210 (GRCm39) V151M probably benign Het
Or9i14 G A 19: 13,792,933 (GRCm39) T7I probably damaging Het
Pkn2 A C 3: 142,544,967 (GRCm39) probably null Het
Ppp1r18 A G 17: 36,179,237 (GRCm39) R371G probably benign Het
Prkar2b A C 12: 32,025,927 (GRCm39) V31G probably damaging Het
Reg3b T A 6: 78,348,243 (GRCm39) M19K probably damaging Het
Sec14l2 G A 11: 4,068,727 (GRCm39) probably benign Het
Sgca C T 11: 94,854,157 (GRCm39) R104Q probably damaging Het
Slc17a6 A G 7: 51,308,519 (GRCm39) Y281C probably damaging Het
Sorcs2 A G 5: 36,196,734 (GRCm39) V637A probably damaging Het
Tdrd9 T A 12: 112,002,963 (GRCm39) probably null Het
Tmem181a T C 17: 6,346,070 (GRCm39) I229T possibly damaging Het
Tmpo A T 10: 90,985,650 (GRCm39) probably benign Het
Ttc41 T C 10: 86,555,384 (GRCm39) V280A probably benign Het
Vmn1r234 G T 17: 21,449,589 (GRCm39) V168F probably benign Het
Vmn2r96 T A 17: 18,817,950 (GRCm39) I701N probably damaging Het
Wnt16 T A 6: 22,297,848 (GRCm39) M238K probably damaging Het
Zfp607b A G 7: 27,403,172 (GRCm39) T543A probably benign Het
Other mutations in Desi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02659:Desi2 APN 1 178,076,843 (GRCm39) missense probably damaging 1.00
R0416:Desi2 UTSW 1 178,083,887 (GRCm39) utr 3 prime probably benign
R0627:Desi2 UTSW 1 178,076,918 (GRCm39) missense possibly damaging 0.66
R1732:Desi2 UTSW 1 178,084,217 (GRCm39) utr 3 prime probably benign
R3116:Desi2 UTSW 1 178,072,008 (GRCm39) missense probably damaging 0.98
R5770:Desi2 UTSW 1 178,084,061 (GRCm39) utr 3 prime probably benign
R5881:Desi2 UTSW 1 178,065,479 (GRCm39) missense probably damaging 1.00
R6104:Desi2 UTSW 1 178,077,018 (GRCm39) missense probably benign
R6641:Desi2 UTSW 1 178,071,943 (GRCm39) missense possibly damaging 0.96
R7289:Desi2 UTSW 1 178,083,702 (GRCm39) start gained probably benign
R7359:Desi2 UTSW 1 178,015,509 (GRCm39) missense probably benign 0.01
R7431:Desi2 UTSW 1 178,084,007 (GRCm39) nonsense probably null
R8053:Desi2 UTSW 1 178,065,482 (GRCm39) nonsense probably null
R8348:Desi2 UTSW 1 178,083,906 (GRCm39) utr 3 prime probably benign
R9515:Desi2 UTSW 1 178,084,170 (GRCm39) missense unknown
R9518:Desi2 UTSW 1 178,015,492 (GRCm39) missense probably benign
Z1088:Desi2 UTSW 1 178,015,510 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGCTAACCCCAGTATTTAGCAGG -3'
(R):5'- TGTCACGTGAAGGGCTTAAAG -3'

Sequencing Primer
(F):5'- CTCACACAGCTTTGTTTTG -3'
(R):5'- CTTTAATCCCAGCATGAGAGGCG -3'
Posted On 2016-07-22