Incidental Mutation 'R5806:Otub2'
ID 448533
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 043392-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R5806 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 103354941-103372609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103369656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 245 (E245G)
Ref Sequence ENSEMBL: ENSMUSP00000137162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021620] [ENSMUST00000044923] [ENSMUST00000056140] [ENSMUST00000101094] [ENSMUST00000110001] [ENSMUST00000179684]
AlphaFold Q9CQX0
Predicted Effect probably benign
Transcript: ENSMUST00000021620
AA Change: E156G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000021620
Gene: ENSMUSG00000021203
AA Change: E156G

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 benign
Transcript: ENSMUST00000101094
AA Change: E245G

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000098655
Gene: ENSMUSG00000021203
AA Change: E245G

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 benign
Transcript: ENSMUST00000179684
AA Change: E245G

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000137162
Gene: ENSMUSG00000021203
AA Change: E245G

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,388,731 (GRCm39) M216T probably benign Het
Abhd4 A G 14: 54,499,147 (GRCm39) N36D probably benign Het
Ankra2 T C 13: 98,405,005 (GRCm39) probably null Het
Btd A G 14: 31,389,469 (GRCm39) T397A probably benign Het
Ccbe1 T A 18: 66,209,426 (GRCm39) K205* probably null Het
Clspn A G 4: 126,479,899 (GRCm39) K1081E probably damaging Het
Cmya5 A G 13: 93,230,445 (GRCm39) S1548P possibly damaging Het
Coq8b T A 7: 26,950,050 (GRCm39) Y376* probably null Het
Cpxm1 C A 2: 130,239,393 (GRCm39) A12S probably damaging Het
Cttn T C 7: 144,015,005 (GRCm39) T68A probably damaging Het
Cyp2a12 T A 7: 26,728,504 (GRCm39) probably null Het
Ddx46 A G 13: 55,811,150 (GRCm39) Q582R possibly damaging Het
Ddx55 A G 5: 124,697,262 (GRCm39) E208G probably damaging Het
Dnaaf4 T C 9: 72,869,336 (GRCm39) L182P probably benign Het
Dync1h1 A T 12: 110,618,087 (GRCm39) T3209S probably damaging Het
Ep400 A T 5: 110,903,420 (GRCm39) L393* probably null Het
Ern1 G C 11: 106,289,531 (GRCm39) S924C probably damaging Het
Fanci T C 7: 79,098,596 (GRCm39) I1249T probably damaging Het
Fgfbp3 T G 19: 36,895,949 (GRCm39) D223A probably damaging Het
Frmd6 T C 12: 70,936,794 (GRCm39) L313P probably damaging Het
Galnt17 A G 5: 130,906,657 (GRCm39) Y504H probably damaging Het
Gjb5 A G 4: 127,249,718 (GRCm39) I142T probably benign Het
Gvin1 T C 7: 105,757,413 (GRCm39) D2352G probably benign Het
H2-M2 G A 17: 37,792,617 (GRCm39) T218I probably damaging Het
Hal A G 10: 93,326,846 (GRCm39) T161A probably damaging Het
Helb G A 10: 119,928,424 (GRCm39) R806C probably damaging Het
Ift80 T A 3: 68,857,809 (GRCm39) I279F probably benign Het
Itln1 A T 1: 171,358,720 (GRCm39) I149N possibly damaging Het
Kcnt2 A C 1: 140,437,234 (GRCm39) T556P probably damaging Het
Klk1b22 A T 7: 43,765,301 (GRCm39) E84D possibly damaging Het
Krt78 A G 15: 101,858,937 (GRCm39) L305P probably damaging Het
Lzts2 T C 19: 45,014,806 (GRCm39) probably benign Het
Macf1 A G 4: 123,265,680 (GRCm39) L6843P probably damaging Het
Magi2 C A 5: 20,856,202 (GRCm39) H841Q probably benign Het
Mdm1 A T 10: 118,002,563 (GRCm39) H628L probably benign Het
Med23 A G 10: 24,783,119 (GRCm39) D734G probably damaging Het
Mfsd13a T C 19: 46,354,849 (GRCm39) W9R probably benign Het
Mki67 T C 7: 135,306,334 (GRCm39) H576R probably damaging Het
Muc5b A G 7: 141,416,572 (GRCm39) T3173A possibly damaging Het
Mx1 A T 16: 97,255,351 (GRCm39) V234E possibly damaging Het
Myh2 T C 11: 67,072,141 (GRCm39) L623P probably damaging Het
Naip1 C T 13: 100,581,243 (GRCm39) M1I probably null Het
Ncapd2 A T 6: 125,158,117 (GRCm39) V337E probably damaging Het
Nit2 G A 16: 56,982,056 (GRCm39) T64M possibly damaging Het
Or1e34 A T 11: 73,778,373 (GRCm39) M275K probably damaging Het
Or4c103 T C 2: 88,513,495 (GRCm39) N194D probably damaging Het
Or6e1 A T 14: 54,520,264 (GRCm39) F29L probably benign Het
Pde8b T C 13: 95,178,548 (GRCm39) K524R probably damaging Het
Pih1d2 C T 9: 50,529,750 (GRCm39) probably benign Het
Pik3cg T A 12: 32,254,952 (GRCm39) D345V possibly damaging Het
Plekhg4 A T 8: 106,105,542 (GRCm39) Q669L possibly damaging Het
Prlr A T 15: 10,319,290 (GRCm39) Y73F probably damaging Het
Ptk6 T C 2: 180,841,523 (GRCm39) I129V possibly damaging Het
Ranbp3 A T 17: 57,017,717 (GRCm39) T458S probably benign Het
Ren1 T A 1: 133,283,249 (GRCm39) Y128* probably null Het
Rimkla A T 4: 119,325,663 (GRCm39) S249T probably damaging Het
Rnf222 T C 11: 68,783,789 (GRCm39) S119P possibly damaging Het
Rrbp1 T A 2: 143,805,251 (GRCm39) E1007V probably benign Het
Septin11 G A 5: 93,315,437 (GRCm39) E389K probably benign Het
Setbp1 A G 18: 78,899,697 (GRCm39) probably null Het
Slc25a54 T C 3: 108,987,894 (GRCm39) S12P probably benign Het
Slc26a5 A C 5: 22,028,561 (GRCm39) F336V probably damaging Het
Slc5a6 T C 5: 31,198,114 (GRCm39) T254A probably damaging Het
Smcr8 G T 11: 60,671,208 (GRCm39) probably null Het
Srcap A T 7: 127,158,335 (GRCm39) probably benign Het
Srrt A T 5: 137,296,179 (GRCm39) I509N probably damaging Het
Tcf25 T A 8: 124,108,243 (GRCm39) H99Q probably benign Het
Tmem40 A G 6: 115,713,373 (GRCm39) V76A probably benign Het
Tnni3k A T 3: 154,533,248 (GRCm39) S740T possibly damaging Het
Top3a A G 11: 60,667,746 (GRCm39) probably null Het
Tpd52l2 C A 2: 181,144,680 (GRCm39) T109K probably damaging Het
Tsnaxip1 C A 8: 106,564,128 (GRCm39) D109E possibly damaging Het
Uty G T Y: 1,170,921 (GRCm39) D313E probably damaging Het
Zfp143 A T 7: 109,685,442 (GRCm39) K423* probably null Het
Zfp407 C T 18: 84,576,739 (GRCm39) G1458D 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
R3001:Otub2 UTSW 12 103,370,536 (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
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'- GGCCATGTGAAGTTTTACAGTG -3'
(R):5'- CATTTCCCCGGGGTTACAAG -3'

Sequencing Primer
(F):5'- AAGTTTTACAGTGTGGTTGAGC -3'
(R):5'- GTTACAAGCAGCCTGTTCACG -3'
Posted On 2016-12-15