Incidental Mutation 'R0972:Ubr2'
ID 262385
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 039101-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.872) question?
Stock # R0972 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 47239221-47321482 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 47245187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113335] [ENSMUST00000113337]
AlphaFold Q6WKZ8
Predicted Effect probably null
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 null
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: ENSMUST00000224442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224759
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 97% (72/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G A 8: 41,208,168 (GRCm39) R478Q probably damaging Het
Adgrf5 A T 17: 43,761,874 (GRCm39) S1190C probably damaging Het
Akr1a1 T C 4: 116,497,204 (GRCm39) probably null Het
Bco2 A T 9: 50,447,615 (GRCm39) D369E probably benign Het
Blm A T 7: 80,163,118 (GRCm39) S78T probably benign Het
Brsk2 C G 7: 141,547,441 (GRCm39) probably benign Het
Cct8 A G 16: 87,283,508 (GRCm39) V269A possibly damaging Het
Cdh12 A T 15: 21,237,850 (GRCm39) Q28H probably benign Het
Cep290 A G 10: 100,354,624 (GRCm39) T896A probably benign Het
Chrm2 T A 6: 36,501,401 (GRCm39) N419K possibly damaging Het
Clasp2 A T 9: 113,676,773 (GRCm39) H168L possibly damaging Het
Cog3 A T 14: 75,954,610 (GRCm39) M643K probably benign Het
Col6a5 A G 9: 105,817,484 (GRCm39) S276P unknown Het
Colgalt2 T C 1: 152,347,495 (GRCm39) V143A probably damaging Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cwc27 C A 13: 104,797,865 (GRCm39) E365* probably null Het
Ddx56 A T 11: 6,217,718 (GRCm39) M1K probably null Het
Dnah3 C T 7: 119,634,563 (GRCm39) probably null Het
Dnah6 T C 6: 73,136,176 (GRCm39) T988A possibly damaging Het
Esp15 T A 17: 39,953,557 (GRCm39) F15I possibly damaging Het
Fam237b T A 5: 5,625,512 (GRCm39) D69E probably benign Het
Fbh1 C T 2: 11,768,899 (GRCm39) probably benign Het
Gucy1b2 A T 14: 62,646,127 (GRCm39) I572N possibly damaging Het
Gucy1b2 T C 14: 62,651,818 (GRCm39) I393V possibly damaging Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Herc1 C A 9: 66,279,427 (GRCm39) R112S probably damaging Het
Itga7 G A 10: 128,778,746 (GRCm39) R291H probably damaging Het
Jag1 A G 2: 136,925,371 (GRCm39) L1077S possibly damaging Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Klrc2 T C 6: 129,635,726 (GRCm39) Y134C probably damaging Het
Map2k2 C A 10: 80,955,482 (GRCm39) D67E probably benign Het
Mest G A 6: 30,740,683 (GRCm39) W14* probably null Het
Mier2 A G 10: 79,380,455 (GRCm39) probably benign Het
Mog A G 17: 37,328,424 (GRCm39) V169A probably benign Het
Mov10l1 T C 15: 88,905,482 (GRCm39) V879A probably damaging Het
Mrgpra9 A G 7: 46,885,203 (GRCm39) S155P probably damaging Het
Mtmr10 A G 7: 63,976,457 (GRCm39) D418G probably damaging Het
Mtpn T C 6: 35,498,911 (GRCm39) D58G probably null Het
Myh8 A G 11: 67,188,585 (GRCm39) R1056G probably damaging Het
Nek1 T A 8: 61,542,465 (GRCm39) probably null Het
Or4k38 T C 2: 111,165,763 (GRCm39) Y220C probably benign Het
Or5al7 A C 2: 85,992,648 (GRCm39) L215R possibly damaging Het
Or8b36 T A 9: 37,937,856 (GRCm39) F251L possibly damaging Het
Pcnx1 G A 12: 81,960,186 (GRCm39) D181N probably damaging Het
Pdzrn4 A G 15: 92,655,592 (GRCm39) D495G probably benign Het
Plppr3 A G 10: 79,700,920 (GRCm39) S641P probably damaging Het
Pramel11 T A 4: 143,623,533 (GRCm39) T214S probably benign Het
Prelp A T 1: 133,842,414 (GRCm39) Y244N probably damaging Het
Prg2 C A 2: 84,812,393 (GRCm39) N34K probably benign Het
Ptp4a1 A G 1: 30,984,080 (GRCm39) V46A possibly damaging Het
Rpl6 A G 5: 121,346,565 (GRCm39) D222G possibly damaging Het
Rtp1 A T 16: 23,250,058 (GRCm39) D141V probably damaging Het
Sacs T A 14: 61,449,412 (GRCm39) Y3819* probably null Het
Serinc5 A G 13: 92,825,128 (GRCm39) T186A probably benign Het
Slc15a2 A G 16: 36,577,501 (GRCm39) S422P probably benign Het
Slc2a8 A T 2: 32,865,379 (GRCm39) V366D probably benign Het
Smarca1 T C X: 46,938,864 (GRCm39) R715G possibly damaging Het
Spdef C T 17: 27,933,997 (GRCm39) A275T probably damaging Het
Tcf21 T C 10: 22,695,621 (GRCm39) K61R probably benign Het
Tep1 A G 14: 51,061,753 (GRCm39) probably benign Het
Thada G A 17: 84,736,490 (GRCm39) probably benign Het
Thap11 T A 8: 106,582,810 (GRCm39) I273N probably damaging Het
Tmem129 T A 5: 33,812,112 (GRCm39) E262V possibly damaging Het
Tnxb A G 17: 34,904,117 (GRCm39) Y1086C probably damaging Het
Togaram2 A G 17: 72,014,309 (GRCm39) Y619C probably damaging Het
Top1 C T 2: 160,562,945 (GRCm39) A717V probably damaging Het
Trpm7 G A 2: 126,646,969 (GRCm39) P1507S probably benign Het
Usp30 T C 5: 114,249,925 (GRCm39) probably benign Het
Vmn1r3 T A 4: 3,185,125 (GRCm39) I61F probably damaging Het
Zbtb22 C T 17: 34,136,326 (GRCm39) T157I possibly damaging Het
Zfp677 A T 17: 21,618,572 (GRCm39) H543L probably damaging Het
Zranb3 G T 1: 127,884,383 (GRCm39) P1001Q 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
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
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 2015-02-04