Incidental Mutation 'R6793:Otub2'
ID 532711
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 044906-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R6793 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 103354941-103372609 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 103355278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021620] [ENSMUST00000101094] [ENSMUST00000179684]
AlphaFold Q9CQX0
Predicted Effect probably benign
Transcript: ENSMUST00000021620
SMART Domains Protein: ENSMUSP00000021620
Gene: ENSMUSG00000021203

DomainStartEndE-ValueType
Pfam:Peptidase_C65 1 230 2.9e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101094
SMART Domains Protein: ENSMUSP00000098655
Gene: ENSMUSG00000021203

DomainStartEndE-ValueType
Pfam:Peptidase_C65 90 319 4.4e-75 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000148371
AA Change: I12V
SMART Domains Protein: ENSMUSP00000115673
Gene: ENSMUSG00000021203
AA Change: I12V

DomainStartEndE-ValueType
Pfam:Peptidase_C65 43 142 1.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179684
SMART Domains Protein: ENSMUSP00000137162
Gene: ENSMUSG00000021203

DomainStartEndE-ValueType
Pfam:Peptidase_C65 90 319 1.8e-78 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,058,052 (GRCm39) N19K possibly damaging Het
A2ml1 G A 6: 128,523,292 (GRCm39) Q1215* probably null Het
Abraxas2 T C 7: 132,476,563 (GRCm39) I98T probably damaging Het
Ankrd17 G A 5: 90,413,371 (GRCm39) T1181I probably damaging Het
Bsn T A 9: 107,991,814 (GRCm39) K1313* probably null Het
Chst4 A T 8: 110,756,699 (GRCm39) V388D probably damaging Het
Ckap5 T G 2: 91,399,054 (GRCm39) W613G probably damaging Het
Clock GACTCACT GACT 5: 76,384,967 (GRCm39) probably null Het
Enpp1 T C 10: 24,531,723 (GRCm39) D520G probably damaging Het
Epha3 T C 16: 63,593,818 (GRCm39) N90S probably benign Het
Esp36 A T 17: 38,728,005 (GRCm39) M92K unknown Het
Fam135a A G 1: 24,107,006 (GRCm39) V44A possibly damaging Het
Fndc8 T C 11: 82,788,412 (GRCm39) S81P probably damaging Het
Fsip2 T G 2: 82,819,838 (GRCm39) N5190K probably benign Het
Gabrr1 T G 4: 33,162,712 (GRCm39) V426G possibly damaging Het
Igkv6-15 T A 6: 70,383,976 (GRCm39) M1L probably benign Het
Lrrc36 A G 8: 106,185,065 (GRCm39) E614G probably damaging Het
Man1a2 A T 3: 100,539,913 (GRCm39) I176K possibly damaging Het
Mapk4 T A 18: 74,063,539 (GRCm39) N561I probably damaging Het
Med15 A T 16: 17,470,567 (GRCm39) probably benign Het
Mfsd2a A G 4: 122,844,498 (GRCm39) V258A probably benign Het
Micu3 G A 8: 40,833,736 (GRCm39) V457I probably damaging Het
Mov10l1 T A 15: 88,880,387 (GRCm39) V291E possibly damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Ncbp1 T C 4: 46,157,827 (GRCm39) I355T probably damaging Het
Or51s1 A G 7: 102,558,935 (GRCm39) V37A probably benign Het
Or52ad1 T C 7: 102,995,473 (GRCm39) T221A probably benign Het
Pcdh15 T C 10: 74,466,971 (GRCm39) S1666P probably damaging Het
Pcdha12 T A 18: 37,155,234 (GRCm39) V651E probably damaging Het
Pomt1 T C 2: 32,132,961 (GRCm39) F186L probably damaging Het
Prl3d3 G A 13: 27,345,044 (GRCm39) A140T probably benign Het
Ptprn G A 1: 75,234,786 (GRCm39) T267I probably benign Het
Qrfprl C T 6: 65,358,405 (GRCm39) A43V probably benign Het
Rhbdd2 T A 5: 135,665,008 (GRCm39) I113N probably damaging Het
Saraf T A 8: 34,635,767 (GRCm39) probably null Het
Slc41a2 T C 10: 83,137,022 (GRCm39) probably null Het
Slc47a1 A G 11: 61,250,229 (GRCm39) V352A probably benign Het
Tmem237 T C 1: 59,153,375 (GRCm39) T49A probably benign Het
Tmem273 A C 14: 32,528,778 (GRCm39) I48L probably benign Het
Tmprss11e C T 5: 86,863,414 (GRCm39) C217Y probably damaging Het
Ubfd1 T C 7: 121,667,103 (GRCm39) V140A probably benign Het
Utrn A G 10: 12,516,669 (GRCm39) probably null Het
Utrn T A 10: 12,574,844 (GRCm39) I1028F possibly damaging Het
Virma C T 4: 11,539,968 (GRCm39) T1479M probably damaging Het
Vwa7 G T 17: 35,243,867 (GRCm39) R767L probably benign Het
Wdfy3 A T 5: 102,065,297 (GRCm39) Y1290* probably null Het
Zfp970 G A 2: 177,167,338 (GRCm39) C304Y 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
R5806:Otub2 UTSW 12 103,369,656 (GRCm39) missense probably benign 0.17
R5896:Otub2 UTSW 12 103,369,687 (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'- CTTTAAAAGGAGGGAGGCCTC -3'
(R):5'- CTGTAGTAGCTTAGTCCCTGATGG -3'

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