Incidental Mutation 'R3001:Otub2'
ID 257337
Institutional Source Beutler Lab
Gene Symbol Otub2
Ensembl Gene ENSMUSG00000021203
Gene Name OTU domain, ubiquitin aldehyde binding 2
Synonyms 4930586I02Rik, OTU2, OTB2, 2010015L18Rik
MMRRC Submission 040530-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R3001 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 103354941-103372609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103370536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 273 (S273P)
Ref Sequence ENSEMBL: ENSMUSP00000137162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021620] [ENSMUST00000044923] [ENSMUST00000056140] [ENSMUST00000101094] [ENSMUST00000110001] [ENSMUST00000179684]
AlphaFold Q9CQX0
Predicted Effect probably damaging
Transcript: ENSMUST00000021620
AA Change: S184P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021620
Gene: ENSMUSG00000021203
AA Change: S184P

DomainStartEndE-ValueType
Pfam:Peptidase_C65 1 230 2.9e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044923
SMART Domains Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645

DomainStartEndE-ValueType
low complexity region 94 101 N/A INTRINSIC
low complexity region 105 114 N/A INTRINSIC
low complexity region 154 162 N/A INTRINSIC
low complexity region 168 180 N/A INTRINSIC
DEXDc 212 541 1.14e-39 SMART
HELICc 601 682 5.22e-25 SMART
low complexity region 752 766 N/A INTRINSIC
low complexity region 775 787 N/A INTRINSIC
low complexity region 835 852 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000056140
Predicted Effect probably damaging
Transcript: ENSMUST00000101094
AA Change: S273P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098655
Gene: ENSMUSG00000021203
AA Change: S273P

DomainStartEndE-ValueType
Pfam:Peptidase_C65 90 319 4.4e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110001
SMART Domains Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645

DomainStartEndE-ValueType
low complexity region 140 147 N/A INTRINSIC
low complexity region 151 160 N/A INTRINSIC
low complexity region 200 208 N/A INTRINSIC
low complexity region 214 226 N/A INTRINSIC
DEXDc 258 587 1.14e-39 SMART
HELICc 647 728 5.22e-25 SMART
low complexity region 798 812 N/A INTRINSIC
low complexity region 821 833 N/A INTRINSIC
low complexity region 881 898 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141055
Predicted Effect probably damaging
Transcript: ENSMUST00000179684
AA Change: S273P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137162
Gene: ENSMUSG00000021203
AA Change: S273P

DomainStartEndE-ValueType
Pfam:Peptidase_C65 90 319 1.8e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222782
Predicted Effect probably benign
Transcript: ENSMUST00000148371
SMART Domains Protein: ENSMUSP00000115673
Gene: ENSMUSG00000021203

DomainStartEndE-ValueType
Pfam:Peptidase_C65 43 142 1.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222715
Meta Mutation Damage Score 0.5798 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik T C 1: 85,973,802 (GRCm39) W40R possibly damaging Het
A2m A G 6: 121,638,406 (GRCm39) S873G possibly damaging Het
Acd C T 8: 106,426,913 (GRCm39) probably null Het
Acly T C 11: 100,395,053 (GRCm39) K469E possibly damaging Het
Adcy6 T C 15: 98,494,541 (GRCm39) T767A probably benign Het
Bnip3 T C 7: 138,496,430 (GRCm39) I93V probably benign Het
Casq2 A G 3: 102,052,517 (GRCm39) D269G probably damaging Het
Ccdc180 A G 4: 45,899,988 (GRCm39) D182G probably benign Het
Cep112 A G 11: 108,331,329 (GRCm39) E178G probably damaging Het
Chrd T G 16: 20,556,195 (GRCm39) Y585* probably null Het
Csmd1 A G 8: 16,246,184 (GRCm39) F1072L probably damaging Het
Dnai2 C T 11: 114,641,297 (GRCm39) P374L probably damaging Het
Eif4g1 T A 16: 20,511,134 (GRCm39) F1289I probably damaging Het
Eprs1 T C 1: 185,156,588 (GRCm39) probably null Het
Fasn T C 11: 120,700,671 (GRCm39) D2114G probably benign Het
Fbxl17 T A 17: 63,532,072 (GRCm39) E590D probably damaging Het
Flnb G T 14: 7,907,162 (GRCm38) R1245L probably benign Het
Folh1 A C 7: 86,372,519 (GRCm39) I678M probably damaging Het
Hal G A 10: 93,343,381 (GRCm39) A542T probably damaging Het
Hs3st2 T A 7: 121,099,910 (GRCm39) M252K probably damaging Het
Il27ra G T 8: 84,758,660 (GRCm39) S499* probably null Het
Klhdc1 T A 12: 69,302,983 (GRCm39) V173D possibly damaging Het
Knop1 CTCTTCTTCTTCTTCTTCTTCTTC CTCTTCTTCTTCTTCTTC 7: 118,451,672 (GRCm39) probably benign Het
Krt71 C T 15: 101,648,906 (GRCm39) probably benign Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lnx2 A G 5: 146,955,825 (GRCm39) V657A probably benign Het
Lrig1 G A 6: 94,585,758 (GRCm39) S810L probably damaging Het
Lyst A T 13: 13,871,290 (GRCm39) M2676L probably benign Het
Mindy4 T A 6: 55,195,349 (GRCm39) S188T probably benign Het
Mrgprb3 C T 7: 48,293,232 (GRCm39) M106I probably benign Het
Ncam1 A G 9: 49,468,526 (GRCm39) I311T probably damaging Het
Ndufa8 T A 2: 35,926,571 (GRCm39) E155V possibly damaging Het
Nr4a1 A G 15: 101,168,853 (GRCm39) probably null Het
Or2a12 A G 6: 42,904,888 (GRCm39) H241R probably damaging Het
Orc3 T C 4: 34,571,790 (GRCm39) T660A probably benign Het
Otulinl T C 15: 27,664,792 (GRCm39) T55A probably benign Het
Phf11c A G 14: 59,622,289 (GRCm39) L241P probably damaging Het
Pik3ca T A 3: 32,516,946 (GRCm39) I1058N probably damaging Het
Pkd2l1 A G 19: 44,143,996 (GRCm39) F359S possibly damaging Het
Plxnc1 A T 10: 94,629,080 (GRCm39) F1565I probably damaging Het
Polr1a T A 6: 71,942,628 (GRCm39) V1156E probably benign Het
Polr1a A G 6: 71,890,000 (GRCm39) N73S probably benign Het
Pon2 A G 6: 5,268,976 (GRCm39) probably null Het
Ptcd1 G A 5: 145,096,386 (GRCm39) L236F probably damaging Het
Rgl2 A G 17: 34,151,579 (GRCm39) I208V probably benign Het
Rptor G A 11: 119,763,197 (GRCm39) R927Q possibly damaging Het
Sacm1l T C 9: 123,414,149 (GRCm39) probably benign Het
Sec14l5 A G 16: 4,989,746 (GRCm39) Y230C probably damaging Het
Sele G T 1: 163,881,140 (GRCm39) G447C probably damaging Het
Slc17a1 G A 13: 24,062,564 (GRCm39) probably null Het
Slc2a4 A T 11: 69,836,751 (GRCm39) Y159* probably null Het
Slitrk5 A G 14: 111,917,014 (GRCm39) K213E probably damaging Het
Tdrd1 C A 19: 56,850,182 (GRCm39) Y981* probably null Het
Tex15 T C 8: 34,064,556 (GRCm39) Y1329H probably benign Het
Tgif2 C G 2: 156,686,114 (GRCm39) S2W probably damaging Het
Thoc5 A G 11: 4,878,688 (GRCm39) M620V probably benign Het
Tmeff2 C T 1: 51,220,994 (GRCm39) A323V probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem68 A C 4: 3,569,588 (GRCm39) L34W probably damaging Het
Tmtc4 A T 14: 123,170,230 (GRCm39) probably null Het
Trpm2 A T 10: 77,766,368 (GRCm39) probably null Het
Tut4 G A 4: 108,370,125 (GRCm39) E714K probably damaging Het
Tyk2 C A 9: 21,020,617 (GRCm39) R938L probably benign Het
Usp33 A T 3: 152,063,579 (GRCm39) T18S probably damaging Het
V1rd19 A T 7: 23,703,310 (GRCm39) I259F probably benign Het
Vmn2r24 A C 6: 123,781,231 (GRCm39) Q479P probably benign Het
Vmn2r98 A G 17: 19,286,125 (GRCm39) M208V probably benign Het
Wfdc6a C T 2: 164,422,225 (GRCm39) V125I probably benign Het
Xpo7 A G 14: 70,930,085 (GRCm39) probably benign Het
Zkscan17 A G 11: 59,378,077 (GRCm39) C369R probably damaging Het
Other mutations in Otub2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Otub2 APN 12 103,370,581 (GRCm39) missense probably benign 0.11
IGL02950:Otub2 APN 12 103,369,632 (GRCm39) missense probably damaging 1.00
R3002:Otub2 UTSW 12 103,370,536 (GRCm39) missense probably damaging 1.00
R3946:Otub2 UTSW 12 103,359,085 (GRCm39) nonsense probably null
R4120:Otub2 UTSW 12 103,370,489 (GRCm39) missense probably damaging 1.00
R4736:Otub2 UTSW 12 103,359,103 (GRCm39) missense probably benign 0.00
R4737:Otub2 UTSW 12 103,359,103 (GRCm39) missense probably benign 0.00
R4740:Otub2 UTSW 12 103,359,103 (GRCm39) missense probably benign 0.00
R5385:Otub2 UTSW 12 103,359,055 (GRCm39) intron probably benign
R5806:Otub2 UTSW 12 103,369,656 (GRCm39) missense probably benign 0.17
R5896:Otub2 UTSW 12 103,369,687 (GRCm39) unclassified probably benign
R6793:Otub2 UTSW 12 103,355,278 (GRCm39) unclassified probably benign
R7205:Otub2 UTSW 12 103,359,163 (GRCm39) missense probably benign 0.00
R7265:Otub2 UTSW 12 103,366,480 (GRCm39) missense probably damaging 1.00
R8261:Otub2 UTSW 12 103,369,161 (GRCm39) critical splice donor site probably null
R8953:Otub2 UTSW 12 103,370,585 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTGTTGCTTCCGTGACAG -3'
(R):5'- AAGGCAGGATGTTCCATTCAG -3'

Sequencing Primer
(F):5'- TGACAGGTGGGCCTCACTAG -3'
(R):5'- ATGCAGTCCATTCGATGACG -3'
Posted On 2015-01-11