Incidental Mutation 'R7219:Ubr2'
ID 561699
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 045291-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.891) question?
Stock # R7219 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 47239221-47321482 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 47246360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 1618 (S1618*)
Ref Sequence ENSEMBL: ENSMUSP00000108961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113335] [ENSMUST00000113337]
AlphaFold Q6WKZ8
Predicted Effect probably null
Transcript: ENSMUST00000113335
AA Change: S1618*
SMART Domains Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977
AA Change: S1618*

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
AA Change: S1618*
SMART Domains Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
AA Change: S1618*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (77/79)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,508 (GRCm39) S300P unknown Het
Abhd17a T A 10: 80,420,008 (GRCm39) K226* probably null Het
Alkbh7 T A 17: 57,305,508 (GRCm39) H108Q probably damaging Het
Ankrd44 A C 1: 54,806,069 (GRCm39) H112Q probably damaging Het
Capn3 A G 2: 120,333,935 (GRCm39) E790G probably damaging Het
Cd47 C A 16: 49,728,440 (GRCm39) N330K possibly damaging Het
Cd55 A G 1: 130,390,343 (GRCm39) S22P possibly damaging Het
Cdc25a A G 9: 109,718,154 (GRCm39) I373V probably damaging Het
Cfap43 T C 19: 47,779,912 (GRCm39) I514V probably benign Het
Cfap73 A T 5: 120,768,200 (GRCm39) M186K probably benign Het
Chd9 A G 8: 91,728,394 (GRCm39) D1270G unknown Het
Ciita A G 16: 10,330,121 (GRCm39) T802A probably benign Het
Dlgap2 A G 8: 14,793,296 (GRCm39) E430G probably benign Het
Dlx1 C A 2: 71,360,513 (GRCm39) S59* probably null Het
Dnaaf3 T C 7: 4,531,076 (GRCm39) N119S probably damaging Het
Dnah11 T G 12: 118,004,830 (GRCm39) I2164L possibly damaging Het
Dnah11 T C 12: 118,090,624 (GRCm39) K1079R probably benign Het
Dnah12 C T 14: 26,576,837 (GRCm39) T3029I probably damaging Het
Dppa3 A T 6: 122,606,918 (GRCm39) Y136F probably damaging Het
Enox1 T A 14: 77,958,284 (GRCm39) M611K probably benign Het
Fam149a A T 8: 45,803,600 (GRCm39) I378N possibly damaging Het
Farp2 T C 1: 93,488,040 (GRCm39) F89S probably damaging Het
Fbn2 C T 18: 58,186,099 (GRCm39) V1750M probably benign Het
Frs3 A G 17: 48,013,620 (GRCm39) T181A probably damaging Het
Heatr4 T A 12: 84,004,644 (GRCm39) I726F possibly damaging Het
Ighg1 T G 12: 113,290,216 (GRCm39) E375A Het
Ikzf4 G T 10: 128,470,252 (GRCm39) Q476K possibly damaging Het
Kcnh1 G T 1: 192,187,945 (GRCm39) C829F probably benign Het
Krtap19-4 T C 16: 88,681,797 (GRCm39) Y53C unknown Het
Loricrin C A 3: 91,988,705 (GRCm39) G194C unknown Het
Lrp1 A C 10: 127,393,097 (GRCm39) D2720E probably benign Het
Lrp4 A G 2: 91,322,368 (GRCm39) Y1068C probably damaging Het
Mbnl1 A G 3: 60,511,244 (GRCm39) N67D probably benign Het
Mrpl21 A G 19: 3,336,998 (GRCm39) E123G probably benign Het
Mst1 A T 9: 107,958,485 (GRCm39) D65V probably damaging Het
Myo15b T A 11: 115,767,921 (GRCm39) probably null Het
Myo5a A G 9: 75,028,052 (GRCm39) Y79C probably damaging Het
Oas1c A T 5: 120,940,957 (GRCm39) W279R probably damaging Het
Or4f4-ps1 A T 2: 111,330,532 (GRCm39) M312L probably benign Het
Or4k77 A T 2: 111,199,882 (GRCm39) I302L probably benign Het
Or51f5 A G 7: 102,430,913 (GRCm39) I77V probably benign Het
Pcdh9 C T 14: 93,253,216 (GRCm39) G1149D possibly damaging Het
Pcid2 G A 8: 13,129,907 (GRCm39) T283I probably benign Het
Pdhx A G 2: 102,858,760 (GRCm39) V348A probably benign Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Psmb3 T A 11: 97,602,023 (GRCm39) M131K probably null Het
Raph1 A G 1: 60,542,032 (GRCm39) Y309H unknown Het
Rasgrf1 A G 9: 89,866,341 (GRCm39) N593S probably damaging Het
Rbm38 A C 2: 172,863,990 (GRCm39) E53A possibly damaging Het
Rufy3 A G 5: 88,797,715 (GRCm39) T631A probably benign Het
Sbno1 A T 5: 124,543,722 (GRCm39) D272E probably benign Het
Scamp1 T A 13: 94,361,415 (GRCm39) Y207F probably damaging Het
Scn8a T A 15: 100,866,984 (GRCm39) S263R probably damaging Het
Setbp1 T G 18: 78,798,960 (GRCm39) T1407P probably damaging Het
Skor2 T C 18: 76,948,096 (GRCm39) L606P possibly damaging Het
Slc35f6 A G 5: 30,814,796 (GRCm39) N241S probably benign Het
Slc36a2 T G 11: 55,059,744 (GRCm39) D247A probably benign Het
Smim10l1 T A 6: 133,084,895 (GRCm39) F87L unknown Het
Son T C 16: 91,461,889 (GRCm39) S2265P unknown Het
Spta1 A G 1: 174,050,203 (GRCm39) N1748D probably damaging Het
Sptbn2 A G 19: 4,774,201 (GRCm39) D84G probably damaging Het
Tasor2 T A 13: 3,640,521 (GRCm39) L205F probably damaging Het
Tbc1d24 G A 17: 24,404,266 (GRCm39) R293C probably damaging Het
Tex15 A G 8: 34,036,268 (GRCm39) T65A probably benign Het
Thyn1 A G 9: 26,916,506 (GRCm39) Y97C probably damaging Het
Tmem64 T C 4: 15,266,700 (GRCm39) L250P probably damaging Het
Tnfrsf9 A T 4: 151,019,991 (GRCm39) K217N probably damaging Het
Tnxb A G 17: 34,898,039 (GRCm39) T896A probably benign Het
Trpm1 T A 7: 63,854,333 (GRCm39) I285N possibly damaging Het
Try5 T A 6: 41,288,637 (GRCm39) D194V probably damaging Het
U2surp G A 9: 95,372,215 (GRCm39) R316* probably null Het
Ugp2 T C 11: 21,273,271 (GRCm39) I449M probably damaging Het
Umodl1 A G 17: 31,201,236 (GRCm39) probably null Het
Vmn2r31 C T 7: 7,390,105 (GRCm39) V538I probably benign Het
Vmn2r31 A T 7: 7,397,397 (GRCm39) M287K probably damaging Het
Wwc2 A G 8: 48,311,919 (GRCm39) V748A unknown Het
Zfp800 A C 6: 28,243,662 (GRCm39) H434Q probably benign Het
Zfp869 A G 8: 70,159,356 (GRCm39) C406R probably damaging Het
Zhx1 A G 15: 57,917,733 (GRCm39) V171A 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
R7126:Ubr2 UTSW 17 47,284,982 (GRCm39) splice site 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'- TGACGTGTCTACAGAGCAAG -3'
(R):5'- TTGCCGATGGTGAAGAGCAG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- ATCGGCTGCTCAGTACACC -3'
Posted On 2019-06-26