Incidental Mutation 'R0044:Ubr2'
ID 32914
Institutional Source Beutler Lab
Gene Symbol Ubr2
Ensembl Gene ENSMUSG00000023977
Gene Name ubiquitin protein ligase E3 component n-recognin 2
Synonyms ENSMUSG00000043296, E130209G04Rik, 9930021A08Rik
MMRRC Submission 038338-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.891) question?
Stock # R0044 (G1)
Quality Score 199
Status Validated
Chromosome 17
Chromosomal Location 47239221-47321482 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 47303911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113335] [ENSMUST00000113337] [ENSMUST00000225599]
AlphaFold Q6WKZ8
Predicted Effect probably benign
Transcript: ENSMUST00000113335
SMART Domains Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977

DomainStartEndE-ValueType
ZnF_UBR1 97 167 3.14e-32 SMART
Pfam:ClpS 221 302 2.4e-23 PFAM
low complexity region 635 646 N/A INTRINSIC
low complexity region 749 760 N/A INTRINSIC
low complexity region 872 886 N/A INTRINSIC
coiled coil region 1019 1046 N/A INTRINSIC
RING 1108 1213 7.66e-1 SMART
low complexity region 1221 1235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113337
SMART Domains Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977

DomainStartEndE-ValueType
ZnF_UBR1 97 167 3.14e-32 SMART
Pfam:ClpS 222 301 6.2e-26 PFAM
low complexity region 635 646 N/A INTRINSIC
low complexity region 749 760 N/A INTRINSIC
low complexity region 872 886 N/A INTRINSIC
coiled coil region 1019 1046 N/A INTRINSIC
RING 1108 1213 7.66e-1 SMART
low complexity region 1221 1235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224759
Predicted Effect probably benign
Transcript: ENSMUST00000225599
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 100% (77/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: On a mixed genetic background, female homozygotes for a targeted null mutation exhibit embryonic lethality, while males are viable, but sterile due to postnatal testicular degeneration. On an inbred background, both genders die in utero. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430571L13Rik A C 9: 107,219,698 (GRCm39) R50S probably damaging Het
Actn2 G T 13: 12,290,013 (GRCm39) T176N possibly damaging Het
Adamts7 T C 9: 90,053,641 (GRCm39) V62A possibly damaging Het
Adcy2 A G 13: 68,876,018 (GRCm39) S495P possibly damaging Het
Agbl3 A T 6: 34,776,834 (GRCm39) M447L probably damaging Het
Asxl1 C T 2: 153,242,129 (GRCm39) T893I probably benign Het
Atp11b T A 3: 35,866,401 (GRCm39) I400N probably damaging Het
Bpifb2 C T 2: 153,724,599 (GRCm39) probably benign Het
Capn1 T A 19: 6,064,373 (GRCm39) Y42F probably benign Het
Cdk5rap2 A T 4: 70,279,138 (GRCm39) L190H probably damaging Het
Cfap54 T C 10: 92,871,295 (GRCm39) I594V probably null Het
Cpsf1 A G 15: 76,483,753 (GRCm39) V830A probably benign Het
Cyp2c70 T A 19: 40,153,815 (GRCm39) N258I possibly damaging Het
Dctn1 T G 6: 83,168,116 (GRCm39) Y386D probably damaging Het
Degs2 T C 12: 108,658,413 (GRCm39) N189D probably damaging Het
Dido1 C T 2: 180,303,612 (GRCm39) A1431T probably damaging Het
Diras1 G T 10: 80,857,972 (GRCm39) S93* probably null Het
E130308A19Rik T A 4: 59,690,290 (GRCm39) H41Q possibly damaging Het
Ebf2 C T 14: 67,548,417 (GRCm39) probably benign Het
Fcho2 A G 13: 98,892,052 (GRCm39) probably benign Het
Gbe1 T A 16: 70,358,020 (GRCm39) Y681* probably null Het
Gm10036 A C 18: 15,965,873 (GRCm39) K8T probably benign Het
Herc1 T A 9: 66,355,457 (GRCm39) M2236K probably benign Het
Hmcn2 A T 2: 31,302,520 (GRCm39) Y2948F probably damaging Het
Jakmip2 A T 18: 43,715,170 (GRCm39) C119S probably benign Het
Kif1b A G 4: 149,348,058 (GRCm39) probably benign Het
Kif6 T C 17: 50,139,284 (GRCm39) probably benign Het
Lpin1 A T 12: 16,618,530 (GRCm39) probably benign Het
Lrp2 T C 2: 69,357,899 (GRCm39) I377V probably benign Het
Mavs C A 2: 131,083,944 (GRCm39) T147N probably damaging Het
Mcoln2 C T 3: 145,889,316 (GRCm39) T374M probably damaging Het
Mreg T G 1: 72,201,534 (GRCm39) T153P probably damaging Het
Naglu T C 11: 100,962,043 (GRCm39) I172T probably damaging Het
Odad4 A T 11: 100,457,827 (GRCm39) I477F probably damaging Het
Ogdhl T C 14: 32,061,285 (GRCm39) V492A possibly damaging Het
Or4a72 A G 2: 89,405,974 (GRCm39) I32T possibly damaging Het
Parvg A G 15: 84,222,083 (GRCm39) E323G probably benign Het
Pgap1 A G 1: 54,532,527 (GRCm39) L664S probably damaging Het
Pgm2l1 A G 7: 99,899,539 (GRCm39) N51S probably benign Het
Pik3r6 A G 11: 68,435,576 (GRCm39) T609A probably benign Het
Plcb4 T A 2: 135,813,776 (GRCm39) V705E probably damaging Het
Plppr5 T A 3: 117,465,538 (GRCm39) probably null Het
Prkg2 C A 5: 99,120,989 (GRCm39) D411Y probably damaging Het
Ptprd A G 4: 76,004,566 (GRCm39) V63A probably benign Het
Ptprz1 T A 6: 23,007,402 (GRCm39) I1655N probably damaging Het
Raf1 T A 6: 115,600,476 (GRCm39) D10V probably benign Het
Rexo1 T A 10: 80,380,212 (GRCm39) Q928L probably benign Het
Rpl7l1 A C 17: 47,089,456 (GRCm39) probably null Het
Rrm2b A G 15: 37,953,932 (GRCm39) S39P possibly damaging Het
Scn5a A G 9: 119,321,113 (GRCm39) probably null Het
Sgtb A G 13: 104,265,768 (GRCm39) T93A probably benign Het
Sigirr G T 7: 140,672,226 (GRCm39) probably null Het
Slc16a7 T C 10: 125,063,951 (GRCm39) D462G probably benign Het
Slc25a30 C T 14: 76,007,089 (GRCm39) A85T probably benign Het
Spata24 A G 18: 35,789,887 (GRCm39) S167P probably damaging Het
Spock3 C T 8: 63,597,041 (GRCm39) T115I possibly damaging Het
Srgap2 A G 1: 131,247,289 (GRCm39) I581T possibly damaging Het
Syn2 A T 6: 115,112,108 (GRCm39) M23L unknown Het
Synrg G A 11: 83,900,007 (GRCm39) V839I probably damaging Het
Tmtc1 A G 6: 148,314,327 (GRCm39) probably benign Het
Tnfaip3 C A 10: 18,887,374 (GRCm39) M50I probably damaging Het
Topbp1 T A 9: 103,202,972 (GRCm39) I721N possibly damaging Het
Ttc22 T G 4: 106,494,003 (GRCm39) V321G probably benign Het
Ubr4 T C 4: 139,164,369 (GRCm39) probably benign Het
Usp24 T C 4: 106,269,281 (GRCm39) probably benign Het
Vmn2r100 A T 17: 19,742,441 (GRCm39) I272L possibly damaging Het
Vrtn T A 12: 84,695,379 (GRCm39) L43H probably damaging Het
Wnk1 G T 6: 120,014,110 (GRCm39) R162S probably damaging Het
Xkr9 G A 1: 13,754,286 (GRCm39) W93* probably null Het
Zfp804b G T 5: 6,819,655 (GRCm39) P1136H probably damaging Het
Other mutations in Ubr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Ubr2 APN 17 47,296,986 (GRCm39) splice site probably benign
IGL00332:Ubr2 APN 17 47,301,916 (GRCm39) critical splice donor site probably null
IGL00518:Ubr2 APN 17 47,303,922 (GRCm39) missense probably damaging 1.00
IGL00693:Ubr2 APN 17 47,283,907 (GRCm39) missense probably benign 0.01
IGL00785:Ubr2 APN 17 47,255,791 (GRCm39) missense possibly damaging 0.69
IGL01144:Ubr2 APN 17 47,268,247 (GRCm39) missense probably damaging 1.00
IGL01459:Ubr2 APN 17 47,241,435 (GRCm39) splice site probably benign
IGL01637:Ubr2 APN 17 47,267,580 (GRCm39) missense probably damaging 1.00
IGL01710:Ubr2 APN 17 47,254,335 (GRCm39) missense probably benign 0.00
IGL01726:Ubr2 APN 17 47,303,907 (GRCm39) splice site probably benign
IGL01925:Ubr2 APN 17 47,265,875 (GRCm39) missense possibly damaging 0.92
IGL01960:Ubr2 APN 17 47,284,893 (GRCm39) missense probably benign 0.45
IGL02170:Ubr2 APN 17 47,278,123 (GRCm39) missense probably benign 0.05
IGL02308:Ubr2 APN 17 47,245,119 (GRCm39) missense probably damaging 1.00
IGL02387:Ubr2 APN 17 47,274,076 (GRCm39) missense probably benign
IGL02696:Ubr2 APN 17 47,274,691 (GRCm39) missense probably benign
IGL02726:Ubr2 APN 17 47,283,847 (GRCm39) missense probably damaging 1.00
IGL02750:Ubr2 APN 17 47,280,208 (GRCm39) missense probably benign 0.00
IGL02934:Ubr2 APN 17 47,268,266 (GRCm39) missense possibly damaging 0.50
IGL02959:Ubr2 APN 17 47,286,877 (GRCm39) missense probably damaging 0.96
IGL03018:Ubr2 APN 17 47,264,972 (GRCm39) missense possibly damaging 0.64
IGL03343:Ubr2 APN 17 47,262,844 (GRCm39) missense probably benign 0.00
PIT4280001:Ubr2 UTSW 17 47,255,789 (GRCm39) missense probably damaging 1.00
R0044:Ubr2 UTSW 17 47,303,911 (GRCm39) splice site probably benign
R0446:Ubr2 UTSW 17 47,294,224 (GRCm39) missense probably damaging 1.00
R0513:Ubr2 UTSW 17 47,297,705 (GRCm39) nonsense probably null
R0565:Ubr2 UTSW 17 47,266,812 (GRCm39) missense probably damaging 1.00
R0600:Ubr2 UTSW 17 47,278,174 (GRCm39) missense probably damaging 0.99
R0690:Ubr2 UTSW 17 47,249,579 (GRCm39) missense probably damaging 0.97
R0710:Ubr2 UTSW 17 47,249,607 (GRCm39) missense probably damaging 0.96
R0761:Ubr2 UTSW 17 47,294,242 (GRCm39) missense probably damaging 1.00
R0798:Ubr2 UTSW 17 47,280,102 (GRCm39) splice site probably benign
R0862:Ubr2 UTSW 17 47,278,009 (GRCm39) nonsense probably null
R0947:Ubr2 UTSW 17 47,252,038 (GRCm39) missense probably damaging 0.99
R0972:Ubr2 UTSW 17 47,245,187 (GRCm39) splice site probably null
R1500:Ubr2 UTSW 17 47,297,615 (GRCm39) missense possibly damaging 0.79
R1514:Ubr2 UTSW 17 47,311,749 (GRCm39) missense probably damaging 1.00
R1533:Ubr2 UTSW 17 47,278,173 (GRCm39) nonsense probably null
R1554:Ubr2 UTSW 17 47,283,877 (GRCm39) missense probably benign
R1575:Ubr2 UTSW 17 47,243,418 (GRCm39) missense probably damaging 1.00
R1602:Ubr2 UTSW 17 47,251,987 (GRCm39) missense probably benign 0.30
R1941:Ubr2 UTSW 17 47,284,952 (GRCm39) missense probably damaging 1.00
R1966:Ubr2 UTSW 17 47,265,845 (GRCm39) missense probably benign 0.05
R2041:Ubr2 UTSW 17 47,296,973 (GRCm39) missense probably damaging 1.00
R2067:Ubr2 UTSW 17 47,274,071 (GRCm39) critical splice donor site probably null
R2111:Ubr2 UTSW 17 47,274,071 (GRCm39) critical splice donor site probably null
R2189:Ubr2 UTSW 17 47,254,290 (GRCm39) missense probably benign 0.01
R2219:Ubr2 UTSW 17 47,296,968 (GRCm39) missense possibly damaging 0.94
R2307:Ubr2 UTSW 17 47,277,141 (GRCm39) nonsense probably null
R3426:Ubr2 UTSW 17 47,279,365 (GRCm39) missense probably damaging 1.00
R3428:Ubr2 UTSW 17 47,279,365 (GRCm39) missense probably damaging 1.00
R3608:Ubr2 UTSW 17 47,255,449 (GRCm39) missense probably damaging 1.00
R4080:Ubr2 UTSW 17 47,299,648 (GRCm39) missense probably benign 0.05
R4330:Ubr2 UTSW 17 47,278,204 (GRCm39) missense probably null 1.00
R4383:Ubr2 UTSW 17 47,250,313 (GRCm39) missense probably benign 0.01
R4460:Ubr2 UTSW 17 47,255,971 (GRCm39) critical splice donor site probably null
R4794:Ubr2 UTSW 17 47,241,371 (GRCm39) missense probably damaging 1.00
R4902:Ubr2 UTSW 17 47,296,922 (GRCm39) missense possibly damaging 0.91
R4913:Ubr2 UTSW 17 47,270,385 (GRCm39) splice site probably null
R5092:Ubr2 UTSW 17 47,280,173 (GRCm39) missense probably damaging 1.00
R5209:Ubr2 UTSW 17 47,279,350 (GRCm39) missense probably damaging 1.00
R5226:Ubr2 UTSW 17 47,294,196 (GRCm39) missense probably benign 0.04
R5250:Ubr2 UTSW 17 47,241,368 (GRCm39) missense probably benign 0.01
R5437:Ubr2 UTSW 17 47,274,623 (GRCm39) missense probably benign 0.00
R5607:Ubr2 UTSW 17 47,245,126 (GRCm39) nonsense probably null
R5848:Ubr2 UTSW 17 47,267,581 (GRCm39) missense possibly damaging 0.84
R6089:Ubr2 UTSW 17 47,293,218 (GRCm39) missense possibly damaging 0.95
R6382:Ubr2 UTSW 17 47,268,241 (GRCm39) missense possibly damaging 0.56
R6552:Ubr2 UTSW 17 47,277,194 (GRCm39) splice site probably null
R6630:Ubr2 UTSW 17 47,262,910 (GRCm39) missense possibly damaging 0.51
R6892:Ubr2 UTSW 17 47,245,034 (GRCm39) missense probably damaging 0.99
R6936:Ubr2 UTSW 17 47,283,957 (GRCm39) missense possibly damaging 0.94
R7039:Ubr2 UTSW 17 47,321,139 (GRCm39) missense probably benign 0.01
R7050:Ubr2 UTSW 17 47,272,528 (GRCm39) missense probably benign 0.30
R7078:Ubr2 UTSW 17 47,266,779 (GRCm39) missense possibly damaging 0.59
R7126:Ubr2 UTSW 17 47,284,982 (GRCm39) splice site probably null
R7219:Ubr2 UTSW 17 47,246,360 (GRCm39) nonsense probably null
R7262:Ubr2 UTSW 17 47,311,665 (GRCm39) missense probably damaging 0.97
R7352:Ubr2 UTSW 17 47,241,352 (GRCm39) missense probably benign 0.19
R7366:Ubr2 UTSW 17 47,266,771 (GRCm39) missense probably damaging 0.99
R7449:Ubr2 UTSW 17 47,275,714 (GRCm39) missense probably damaging 1.00
R7496:Ubr2 UTSW 17 47,301,917 (GRCm39) critical splice donor site probably null
R7759:Ubr2 UTSW 17 47,296,974 (GRCm39) missense probably damaging 1.00
R7869:Ubr2 UTSW 17 47,301,934 (GRCm39) missense probably benign 0.00
R7916:Ubr2 UTSW 17 47,279,308 (GRCm39) critical splice donor site probably null
R8236:Ubr2 UTSW 17 47,262,835 (GRCm39) missense probably benign
R8376:Ubr2 UTSW 17 47,253,721 (GRCm39) missense probably benign 0.07
R9026:Ubr2 UTSW 17 47,245,041 (GRCm39) missense probably damaging 1.00
R9216:Ubr2 UTSW 17 47,292,285 (GRCm39) missense probably benign 0.36
R9339:Ubr2 UTSW 17 47,284,865 (GRCm39) missense probably benign 0.30
R9558:Ubr2 UTSW 17 47,262,843 (GRCm39) missense probably benign
R9606:Ubr2 UTSW 17 47,245,020 (GRCm39) missense probably damaging 1.00
R9644:Ubr2 UTSW 17 47,266,706 (GRCm39) critical splice donor site probably null
R9731:Ubr2 UTSW 17 47,274,071 (GRCm39) critical splice donor site probably null
X0027:Ubr2 UTSW 17 47,311,555 (GRCm39) missense probably damaging 0.99
X0061:Ubr2 UTSW 17 47,281,037 (GRCm39) missense possibly damaging 0.88
Z1177:Ubr2 UTSW 17 47,311,692 (GRCm39) missense possibly damaging 0.76
Z1177:Ubr2 UTSW 17 47,270,435 (GRCm39) missense probably benign
Z1177:Ubr2 UTSW 17 47,321,069 (GRCm39) missense probably benign 0.33
Predicted Primers
Posted On 2013-05-09