Incidental Mutation 'R4120:Otub2'
ID315294
Institutional Source Beutler Lab
Gene Symbol Otub2
Ensembl Gene ENSMUSG00000021203
Gene NameOTU domain, ubiquitin aldehyde binding 2
Synonyms2010015L18Rik, OTU2, OTB2, 4930586I02Rik
MMRRC Submission 040993-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #R4120 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location103388682-103406350 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103404230 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 257 (V257A)
Ref Sequence ENSEMBL: ENSMUSP00000137162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021620] [ENSMUST00000044923] [ENSMUST00000056140] [ENSMUST00000101094] [ENSMUST00000110001] [ENSMUST00000179684]
Predicted Effect probably damaging
Transcript: ENSMUST00000021620
AA Change: V168A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021620
Gene: ENSMUSG00000021203
AA Change: V168A

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: V257A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098655
Gene: ENSMUSG00000021203
AA Change: V257A

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: ENSMUST00000148371
SMART Domains Protein: ENSMUSP00000115673
Gene: ENSMUSG00000021203

DomainStartEndE-ValueType
Pfam:Peptidase_C65 43 142 1.2e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179684
AA Change: V257A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137162
Gene: ENSMUSG00000021203
AA Change: V257A

DomainStartEndE-ValueType
Pfam:Peptidase_C65 90 319 1.8e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222782
Meta Mutation Damage Score 0.7267 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 93% (55/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C A 1: 25,094,307 E1233* probably null Het
Afap1l1 T C 18: 61,739,172 D526G probably damaging Het
Ago4 A G 4: 126,496,807 Y807H probably damaging Het
Ankfy1 G A 11: 72,714,484 probably null Het
Arhgap40 A G 2: 158,532,330 M222V probably benign Het
Asnsd1 A G 1: 53,347,995 S158P probably damaging Het
C130026I21Rik C T 1: 85,259,821 V81M possibly damaging Het
Cdh15 T C 8: 122,863,423 V365A probably damaging Het
Clca3a2 T C 3: 144,810,852 M328V probably benign Het
Col4a1 G A 8: 11,206,263 P1535S unknown Het
Dennd2a G A 6: 39,465,096 R947C probably damaging Het
Dlg2 G A 7: 91,965,638 V217I probably damaging Het
Dnaaf2 T C 12: 69,198,038 D83G possibly damaging Het
Dppa5a A T 9: 78,367,855 M55K possibly damaging Het
Ect2l A G 10: 18,130,718 V779A probably benign Het
Ehhadh A G 16: 21,763,184 S353P probably benign Het
Etv3 A G 3: 87,536,282 D391G probably benign Het
Fastkd1 T A 2: 69,707,310 K309N probably damaging Het
Fip1l1 T A 5: 74,588,191 Y375N probably damaging Het
Flvcr2 T C 12: 85,786,129 S308P probably benign Het
Fyco1 T C 9: 123,825,626 Y1065C probably benign Het
Gfra2 A G 14: 70,966,275 D31G probably damaging Het
Gm17175 A T 14: 51,573,077 I31N probably damaging Het
Gm6003 T A 7: 33,165,551 noncoding transcript Het
Gm9951 T C 8: 34,055,839 noncoding transcript Het
Hspa2 A G 12: 76,405,234 E234G probably damaging Het
Ip6k2 G A 9: 108,805,648 R319Q probably benign Het
Iqsec1 A T 6: 90,662,602 Y1065* probably null Het
Ltk T A 2: 119,757,948 probably benign Het
Map2 G A 1: 66,415,904 A1318T probably damaging Het
Mas1 A T 17: 12,842,346 N63K probably damaging Het
Myo15b T C 11: 115,873,492 S1311P probably benign Het
Nav3 A G 10: 109,903,744 probably null Het
Nlrp1c-ps T C 11: 71,242,533 noncoding transcript Het
Oca2 A T 7: 56,254,882 D32V probably damaging Het
Olfr624 T C 7: 103,671,014 T6A probably benign Het
Olfr877 T C 9: 37,855,409 L197S possibly damaging Het
Pink1 G A 4: 138,315,511 R461* probably null Het
Plxna2 T C 1: 194,780,627 C901R probably damaging Het
Ptchd3 T A 11: 121,830,746 N148K probably damaging Het
Ralgapa1 C T 12: 55,640,644 R2019Q probably damaging Het
Ripor1 T A 8: 105,618,857 probably benign Het
Sec13 T C 6: 113,734,676 N107S probably damaging Het
Slc12a2 A G 18: 57,899,355 M376V possibly damaging Het
Sptbn5 T A 2: 120,064,529 D798V possibly damaging Het
Stradb T A 1: 58,980,009 Y30N possibly damaging Het
Syne1 T A 10: 5,409,798 Q328L probably damaging Het
Ttc23l A C 15: 10,539,920 V159G probably damaging Het
Vmn2r100 T C 17: 19,531,953 S753P probably damaging Het
Vmn2r39 G A 7: 9,023,674 H443Y probably benign Het
Vmn2r-ps159 G T 4: 156,334,483 noncoding transcript Het
Zfp936 A G 7: 43,190,206 T366A probably benign Het
Zkscan3 T C 13: 21,393,949 E256G possibly damaging Het
Other mutations in Otub2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Otub2 APN 12 103404322 missense probably benign 0.11
IGL02950:Otub2 APN 12 103403373 missense probably damaging 1.00
R3001:Otub2 UTSW 12 103404277 missense probably damaging 1.00
R3002:Otub2 UTSW 12 103404277 missense probably damaging 1.00
R3946:Otub2 UTSW 12 103392826 nonsense probably null
R4736:Otub2 UTSW 12 103392844 missense probably benign 0.00
R4737:Otub2 UTSW 12 103392844 missense probably benign 0.00
R4740:Otub2 UTSW 12 103392844 missense probably benign 0.00
R5385:Otub2 UTSW 12 103392796 intron probably benign
R5806:Otub2 UTSW 12 103403397 missense probably benign 0.17
R5896:Otub2 UTSW 12 103403428 unclassified probably benign
R6793:Otub2 UTSW 12 103389019 unclassified probably benign
R7205:Otub2 UTSW 12 103392904 missense probably benign 0.00
R7265:Otub2 UTSW 12 103400221 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGCACATTCCGTCAAGGGG -3'
(R):5'- TTTCTCGGCTGCGTAAAGGATG -3'

Sequencing Primer
(F):5'- ACATTCCGTCAAGGGGTCTGG -3'
(R):5'- CGGCTGCGTAAAGGATGTTGTAG -3'
Posted On2015-05-14