Incidental Mutation 'R7126:Ubr2'
ID 568402
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 045213-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.872) question?
Stock # R7126 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 47239221-47321482 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 47284982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113335] [ENSMUST00000113337] [ENSMUST00000225599]
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 probably benign
Transcript: ENSMUST00000225599
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (73/75)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,535,988 (GRCm39) C85R unknown Het
3110082I17Rik G T 5: 139,347,005 (GRCm39) H153Q unknown Het
Acadsb T C 7: 131,039,177 (GRCm39) I316T probably benign Het
Acsbg2 A T 17: 57,153,633 (GRCm39) N523K probably damaging Het
Ahnak C T 19: 8,979,723 (GRCm39) P336S possibly damaging Het
Ankdd1b A G 13: 96,566,370 (GRCm39) V277A possibly damaging Het
Aspm A G 1: 139,408,541 (GRCm39) Y2476C probably benign Het
Atg13 G A 2: 91,510,765 (GRCm39) R321W probably damaging Het
B4galt2 A G 4: 117,734,735 (GRCm39) F211S probably damaging Het
Baiap3 T A 17: 25,464,119 (GRCm39) T913S possibly damaging Het
Btbd18 A T 2: 84,496,546 (GRCm39) E61D possibly damaging Het
Btnl9 G T 11: 49,060,082 (GRCm39) S555R probably damaging Het
Cbs T A 17: 31,838,113 (GRCm39) M379L probably benign Het
Chd9 G A 8: 91,741,853 (GRCm39) G1614D unknown Het
Cmya5 G A 13: 93,226,448 (GRCm39) P2880L probably benign Het
Cnnm1 T C 19: 43,473,292 (GRCm39) S729P probably damaging Het
Cox16 T A 12: 81,518,940 (GRCm39) E70D probably benign Het
Cp A G 3: 20,034,788 (GRCm39) H699R probably damaging Het
Cyp2d26 T C 15: 82,678,209 (GRCm39) N56D probably benign Het
Dennd4c A G 4: 86,725,667 (GRCm39) Y707C probably damaging Het
Dnah5 A T 15: 28,349,983 (GRCm39) E2555D probably benign Het
Ess2 T C 16: 17,729,154 (GRCm39) T6A unknown Het
Filip1 A G 9: 79,805,577 (GRCm39) L59P possibly damaging Het
Fsip2 A G 2: 82,813,485 (GRCm39) N3268S possibly damaging Het
Gja10 A T 4: 32,601,014 (GRCm39) C457S probably benign Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Gm47959 G A 1: 82,978,503 (GRCm39) G57S unknown Het
Grep1 C T 17: 23,939,538 (GRCm39) V8I probably benign Het
Grid2 T A 6: 64,053,794 (GRCm39) V331E probably damaging Het
Inpp4a C A 1: 37,413,353 (GRCm39) H123Q probably benign Het
Ireb2 T A 9: 54,793,851 (GRCm39) Y260* probably null Het
Itpr2 G A 6: 146,259,294 (GRCm39) Q628* probably null Het
Kbtbd11 G A 8: 15,078,759 (GRCm39) A453T probably damaging Het
Kcnj2 A G 11: 110,963,648 (GRCm39) T347A probably damaging Het
Kif19b A T 5: 140,477,073 (GRCm39) D874V probably benign Het
Klhl12 A G 1: 134,395,521 (GRCm39) H161R probably damaging Het
Krt78 T C 15: 101,856,871 (GRCm39) E412G probably damaging Het
Lzic A G 4: 149,573,132 (GRCm39) I95V probably damaging Het
Mme C T 3: 63,276,322 (GRCm39) P700S probably damaging Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Mthfd2 A G 6: 83,290,472 (GRCm39) V53A probably benign Het
Mtus1 A G 8: 41,468,439 (GRCm39) L210P probably damaging Het
Muc16 T C 9: 18,552,512 (GRCm39) T4594A probably benign Het
Niban1 T A 1: 151,590,318 (GRCm39) C537* probably null Het
Olfm5 A T 7: 103,809,187 (GRCm39) C208S probably damaging Het
Or10q1 T A 19: 13,726,887 (GRCm39) I139N possibly damaging Het
Or2ad1 A T 13: 21,326,888 (GRCm39) L113H probably damaging Het
Or7a39 T C 10: 78,715,411 (GRCm39) V135A possibly damaging Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Plin1 T C 7: 79,376,412 (GRCm39) probably null Het
Prl7a1 C T 13: 27,826,402 (GRCm39) probably null Het
Ptpn23 T C 9: 110,217,812 (GRCm39) D711G probably benign Het
Rgs22 A T 15: 36,103,954 (GRCm39) I169N probably damaging Het
Scn7a G T 2: 66,587,630 (GRCm39) H24Q possibly damaging Het
Scrt2 C T 2: 151,935,006 (GRCm39) P53L probably damaging Het
Sh3rf1 A T 8: 61,802,458 (GRCm39) I264L probably benign Het
Smarcd1 A T 15: 99,607,206 (GRCm39) D393V probably damaging Het
Spag17 T G 3: 100,008,751 (GRCm39) N1960K probably benign Het
Ssb A G 2: 69,696,845 (GRCm39) T62A possibly damaging Het
Taar7b T A 10: 23,875,960 (GRCm39) Y42N possibly damaging Het
Terf1 A T 1: 15,883,363 (GRCm39) I159L probably benign Het
Tff3 T G 17: 31,346,410 (GRCm39) N54T probably benign Het
Top2a A G 11: 98,905,818 (GRCm39) L285P probably benign Het
Trim24 A G 6: 37,896,392 (GRCm39) Y283C probably damaging Het
Trim58 T C 11: 58,531,405 (GRCm39) C38R probably damaging Het
Trpa1 T A 1: 14,960,648 (GRCm39) T647S probably benign Het
Trpm4 A T 7: 44,960,133 (GRCm39) probably null Het
Trpm6 C T 19: 18,831,397 (GRCm39) Q1421* probably null Het
Vmn1r46 T G 6: 89,953,976 (GRCm39) I275S possibly damaging Het
Vmn2r54 A G 7: 12,366,088 (GRCm39) F282S possibly damaging Het
Vmn2r57 A G 7: 41,049,218 (GRCm39) S844P possibly damaging Het
Vps13a A C 19: 16,688,243 (GRCm39) C855G probably benign Het
Wdr31 T A 4: 62,381,666 (GRCm39) Q55L probably benign 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
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
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 PCR Primer
(F):5'- ACAAGTACTTCCTCAAACTTTCCG -3'
(R):5'- ACTGCGTGACATTGCACAAG -3'

Sequencing Primer
(F):5'- AGGCTTCCACCTGCTCAC -3'
(R):5'- GTGACATTGCACAAGCTGTC -3'
Posted On 2019-07-16