Incidental Mutation 'R7449:Ubr2'
ID 577607
Institutional Source Beutler Lab
Gene Symbol Ubr2
Ensembl Gene ENSMUSG00000023977
Gene Name ubiquitin protein ligase E3 component n-recognin 2
Synonyms 9930021A08Rik, E130209G04Rik, ENSMUSG00000043296
MMRRC Submission 045524-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.866) question?
Stock # R7449 (G1)
Quality Score 189.009
Status Not validated
Chromosome 17
Chromosomal Location 46928295-47010556 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46964788 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 811 (E811K)
Ref Sequence ENSEMBL: ENSMUSP00000108961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113335] [ENSMUST00000113337] [ENSMUST00000225599]
AlphaFold Q6WKZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000113335
AA Change: E811K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977
AA Change: E811K

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 damaging
Transcript: ENSMUST00000113337
AA Change: E811K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
AA Change: E811K

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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
Abca16 T A 7: 120,435,908 (GRCm38) Y306N possibly damaging Het
Adgrv1 A T 13: 81,499,073 (GRCm38) V3116D probably damaging Het
Adssl1 A T 12: 112,634,151 (GRCm38) T185S probably damaging Het
Ago2 G A 15: 73,146,499 (GRCm38) P30L probably damaging Het
Atp5j C T 16: 84,831,363 (GRCm38) V44M probably benign Het
Atp7b T A 8: 22,011,849 (GRCm38) I833F probably damaging Het
Birc6 T A 17: 74,702,341 (GRCm38) N4869K probably benign Het
Cacna1c C T 6: 118,602,349 (GRCm38) D1796N Het
Ccng2 C G 5: 93,273,343 (GRCm38) S237R probably benign Het
Cnga1 A G 5: 72,605,304 (GRCm38) I289T probably benign Het
Crybg1 C A 10: 44,004,519 (GRCm38) E224D probably benign Het
Dysf T C 6: 84,137,380 (GRCm38) L1217P possibly damaging Het
Ebf2 T A 14: 67,410,020 (GRCm38) N339K probably damaging Het
Eva1c T C 16: 90,876,193 (GRCm38) probably null Het
Fam172a A G 13: 77,759,442 (GRCm38) I41V probably damaging Het
Fam184a T C 10: 53,698,634 (GRCm38) E293G probably damaging Het
Folh1 G A 7: 86,731,748 (GRCm38) P506S probably benign Het
Ftcd A T 10: 76,580,163 (GRCm38) K210N probably benign Het
Gdf6 T A 4: 9,844,494 (GRCm38) V6D possibly damaging Het
Ghitm C A 14: 37,131,581 (GRCm38) G101C probably damaging Het
Gimap5 T A 6: 48,752,904 (GRCm38) V136D probably damaging Het
Gm9745 T A 13: 8,943,304 (GRCm38) H51L probably damaging Het
Grm4 C T 17: 27,435,371 (GRCm38) G535D probably damaging Het
Gse1 T C 8: 120,229,711 (GRCm38) S314P unknown Het
Hnrnpdl A G 5: 100,037,155 (GRCm38) I279T probably damaging Het
Itpr1 T C 6: 108,389,384 (GRCm38) S923P probably damaging Het
Krt39 C A 11: 99,518,061 (GRCm38) C303F probably benign Het
Lrrn1 T C 6: 107,568,521 (GRCm38) S427P possibly damaging Het
Lrrn3 T A 12: 41,453,488 (GRCm38) R277W probably damaging Het
Ltb4r1 T C 14: 55,767,918 (GRCm38) L226P probably damaging Het
Map1b C T 13: 99,508,140 (GRCm38) R85Q probably damaging Het
Mcoln1 T C 8: 3,507,285 (GRCm38) L125P probably damaging Het
Nid1 T G 13: 13,482,051 (GRCm38) V589G probably damaging Het
Nlrp5 T G 7: 23,417,526 (GRCm38) F225C probably benign Het
Notch3 C T 17: 32,157,966 (GRCm38) A322T probably damaging Het
Olfr299 A G 7: 86,465,855 (GRCm38) H148R probably benign Het
Olfr69 G T 7: 103,767,819 (GRCm38) Q193K probably benign Het
Olfr854 T A 9: 19,566,866 (GRCm38) T173S probably benign Het
Otogl A G 10: 107,803,663 (GRCm38) C1363R probably damaging Het
Ovol1 T A 19: 5,553,597 (GRCm38) D92V probably benign Het
Pigt T C 2: 164,502,499 (GRCm38) L356P probably damaging Het
Plekhg3 A G 12: 76,566,222 (GRCm38) Q434R probably damaging Het
Plekhh1 T C 12: 79,079,552 (GRCm38) F1344L probably benign Het
Psmd3 T A 11: 98,695,551 (GRCm38) L515Q probably damaging Het
Pus1 A G 5: 110,774,586 (GRCm38) L405P probably damaging Het
Qtrt2 T A 16: 43,881,032 (GRCm38) H55L probably benign Het
Rasgrp1 T C 2: 117,287,943 (GRCm38) I522V probably damaging Het
Raver2 T A 4: 101,102,663 (GRCm38) H113Q probably damaging Het
Recql4 T C 15: 76,705,565 (GRCm38) D760G unknown Het
Rhobtb3 C T 13: 75,910,741 (GRCm38) V313M probably benign Het
Rhox4d G A X: 37,518,992 (GRCm38) G191E unknown Het
Rictor C T 15: 6,772,154 (GRCm38) S441L probably benign Het
Rnf185 T C 11: 3,426,578 (GRCm38) Q135R probably benign Het
Sema3f T C 9: 107,684,036 (GRCm38) S584G probably damaging Het
Sh3pxd2a T A 19: 47,267,652 (GRCm38) T904S probably benign Het
Slc4a10 T C 2: 62,303,946 (GRCm38) V1002A probably benign Het
Taf1b T C 12: 24,504,993 (GRCm38) I55T probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,446,708 (GRCm38) probably benign Het
Tenm4 A T 7: 96,874,213 (GRCm38) D1654V possibly damaging Het
Tgfb1 G A 7: 25,704,838 (GRCm38) V357M probably damaging Het
Tnxb C T 17: 34,703,361 (GRCm38) P2383S possibly damaging Het
Trpm1 A T 7: 64,208,975 (GRCm38) M382L probably benign Het
Trrap A G 5: 144,851,209 (GRCm38) Y3516C probably damaging Het
Txnrd1 T A 10: 82,885,233 (GRCm38) Y494* probably null Het
Ubxn4 T A 1: 128,244,543 (GRCm38) F25I possibly damaging Het
Vmn2r117 A G 17: 23,459,895 (GRCm38) M785T probably damaging Het
Vmn2r99 G A 17: 19,379,145 (GRCm38) D364N probably benign Het
Vps45 C A 3: 96,047,136 (GRCm38) probably null Het
Wdr25 A C 12: 109,026,441 (GRCm38) H426P probably damaging Het
Wdr83 A T 8: 85,079,681 (GRCm38) W136R probably damaging Het
Xylt1 A C 7: 117,592,005 (GRCm38) I343L possibly damaging Het
Znrd1as A G 17: 36,964,383 (GRCm38) D16G probably damaging Het
Zscan4b T C 7: 10,904,058 (GRCm38) Q53R possibly damaging Het
Other mutations in Ubr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Ubr2 APN 17 46,986,060 (GRCm38) splice site probably benign
IGL00332:Ubr2 APN 17 46,990,990 (GRCm38) critical splice donor site probably null
IGL00518:Ubr2 APN 17 46,992,996 (GRCm38) missense probably damaging 1.00
IGL00693:Ubr2 APN 17 46,972,981 (GRCm38) missense probably benign 0.01
IGL00785:Ubr2 APN 17 46,944,865 (GRCm38) missense possibly damaging 0.69
IGL01144:Ubr2 APN 17 46,957,321 (GRCm38) missense probably damaging 1.00
IGL01459:Ubr2 APN 17 46,930,509 (GRCm38) splice site probably benign
IGL01637:Ubr2 APN 17 46,956,654 (GRCm38) missense probably damaging 1.00
IGL01710:Ubr2 APN 17 46,943,409 (GRCm38) missense probably benign 0.00
IGL01726:Ubr2 APN 17 46,992,981 (GRCm38) splice site probably benign
IGL01925:Ubr2 APN 17 46,954,949 (GRCm38) missense possibly damaging 0.92
IGL01960:Ubr2 APN 17 46,973,967 (GRCm38) missense probably benign 0.45
IGL02170:Ubr2 APN 17 46,967,197 (GRCm38) missense probably benign 0.05
IGL02308:Ubr2 APN 17 46,934,193 (GRCm38) missense probably damaging 1.00
IGL02387:Ubr2 APN 17 46,963,150 (GRCm38) missense probably benign
IGL02696:Ubr2 APN 17 46,963,765 (GRCm38) missense probably benign
IGL02726:Ubr2 APN 17 46,972,921 (GRCm38) missense probably damaging 1.00
IGL02750:Ubr2 APN 17 46,969,282 (GRCm38) missense probably benign 0.00
IGL02934:Ubr2 APN 17 46,957,340 (GRCm38) missense possibly damaging 0.50
IGL02959:Ubr2 APN 17 46,975,951 (GRCm38) missense probably damaging 0.96
IGL03018:Ubr2 APN 17 46,954,046 (GRCm38) missense possibly damaging 0.64
IGL03343:Ubr2 APN 17 46,951,918 (GRCm38) missense probably benign 0.00
PIT4280001:Ubr2 UTSW 17 46,944,863 (GRCm38) missense probably damaging 1.00
R0044:Ubr2 UTSW 17 46,992,985 (GRCm38) splice site probably benign
R0044:Ubr2 UTSW 17 46,992,985 (GRCm38) splice site probably benign
R0446:Ubr2 UTSW 17 46,983,298 (GRCm38) missense probably damaging 1.00
R0513:Ubr2 UTSW 17 46,986,779 (GRCm38) nonsense probably null
R0565:Ubr2 UTSW 17 46,955,886 (GRCm38) missense probably damaging 1.00
R0600:Ubr2 UTSW 17 46,967,248 (GRCm38) missense probably damaging 0.99
R0690:Ubr2 UTSW 17 46,938,653 (GRCm38) missense probably damaging 0.97
R0710:Ubr2 UTSW 17 46,938,681 (GRCm38) missense probably damaging 0.96
R0761:Ubr2 UTSW 17 46,983,316 (GRCm38) missense probably damaging 1.00
R0798:Ubr2 UTSW 17 46,969,176 (GRCm38) splice site probably benign
R0862:Ubr2 UTSW 17 46,967,083 (GRCm38) nonsense probably null
R0947:Ubr2 UTSW 17 46,941,112 (GRCm38) missense probably damaging 0.99
R0972:Ubr2 UTSW 17 46,934,261 (GRCm38) splice site probably null
R1500:Ubr2 UTSW 17 46,986,689 (GRCm38) missense possibly damaging 0.79
R1514:Ubr2 UTSW 17 47,000,823 (GRCm38) missense probably damaging 1.00
R1533:Ubr2 UTSW 17 46,967,247 (GRCm38) nonsense probably null
R1554:Ubr2 UTSW 17 46,972,951 (GRCm38) missense probably benign
R1575:Ubr2 UTSW 17 46,932,492 (GRCm38) missense probably damaging 1.00
R1602:Ubr2 UTSW 17 46,941,061 (GRCm38) missense probably benign 0.30
R1941:Ubr2 UTSW 17 46,974,026 (GRCm38) missense probably damaging 1.00
R1966:Ubr2 UTSW 17 46,954,919 (GRCm38) missense probably benign 0.05
R2041:Ubr2 UTSW 17 46,986,047 (GRCm38) missense probably damaging 1.00
R2067:Ubr2 UTSW 17 46,963,145 (GRCm38) critical splice donor site probably null
R2111:Ubr2 UTSW 17 46,963,145 (GRCm38) critical splice donor site probably null
R2189:Ubr2 UTSW 17 46,943,364 (GRCm38) missense probably benign 0.01
R2219:Ubr2 UTSW 17 46,986,042 (GRCm38) missense possibly damaging 0.94
R2307:Ubr2 UTSW 17 46,966,215 (GRCm38) nonsense probably null
R3426:Ubr2 UTSW 17 46,968,439 (GRCm38) missense probably damaging 1.00
R3428:Ubr2 UTSW 17 46,968,439 (GRCm38) missense probably damaging 1.00
R3608:Ubr2 UTSW 17 46,944,523 (GRCm38) missense probably damaging 1.00
R4080:Ubr2 UTSW 17 46,988,722 (GRCm38) missense probably benign 0.05
R4330:Ubr2 UTSW 17 46,967,278 (GRCm38) missense probably null 1.00
R4383:Ubr2 UTSW 17 46,939,387 (GRCm38) missense probably benign 0.01
R4460:Ubr2 UTSW 17 46,945,045 (GRCm38) critical splice donor site probably null
R4794:Ubr2 UTSW 17 46,930,445 (GRCm38) missense probably damaging 1.00
R4902:Ubr2 UTSW 17 46,985,996 (GRCm38) missense possibly damaging 0.91
R4913:Ubr2 UTSW 17 46,959,459 (GRCm38) splice site probably null
R5092:Ubr2 UTSW 17 46,969,247 (GRCm38) missense probably damaging 1.00
R5209:Ubr2 UTSW 17 46,968,424 (GRCm38) missense probably damaging 1.00
R5226:Ubr2 UTSW 17 46,983,270 (GRCm38) missense probably benign 0.04
R5250:Ubr2 UTSW 17 46,930,442 (GRCm38) missense probably benign 0.01
R5437:Ubr2 UTSW 17 46,963,697 (GRCm38) missense probably benign 0.00
R5607:Ubr2 UTSW 17 46,934,200 (GRCm38) nonsense probably null
R5848:Ubr2 UTSW 17 46,956,655 (GRCm38) missense possibly damaging 0.84
R6089:Ubr2 UTSW 17 46,982,292 (GRCm38) missense possibly damaging 0.95
R6382:Ubr2 UTSW 17 46,957,315 (GRCm38) missense possibly damaging 0.56
R6552:Ubr2 UTSW 17 46,966,268 (GRCm38) splice site probably null
R6630:Ubr2 UTSW 17 46,951,984 (GRCm38) missense possibly damaging 0.51
R6892:Ubr2 UTSW 17 46,934,108 (GRCm38) missense probably damaging 0.99
R6936:Ubr2 UTSW 17 46,973,031 (GRCm38) missense possibly damaging 0.94
R7039:Ubr2 UTSW 17 47,010,213 (GRCm38) missense probably benign 0.01
R7050:Ubr2 UTSW 17 46,961,602 (GRCm38) missense probably benign 0.30
R7078:Ubr2 UTSW 17 46,955,853 (GRCm38) missense possibly damaging 0.59
R7126:Ubr2 UTSW 17 46,974,056 (GRCm38) splice site probably null
R7219:Ubr2 UTSW 17 46,935,434 (GRCm38) nonsense probably null
R7262:Ubr2 UTSW 17 47,000,739 (GRCm38) missense probably damaging 0.97
R7352:Ubr2 UTSW 17 46,930,426 (GRCm38) missense probably benign 0.19
R7366:Ubr2 UTSW 17 46,955,845 (GRCm38) missense probably damaging 0.99
R7496:Ubr2 UTSW 17 46,990,991 (GRCm38) critical splice donor site probably null
R7759:Ubr2 UTSW 17 46,986,048 (GRCm38) missense probably damaging 1.00
R7869:Ubr2 UTSW 17 46,991,008 (GRCm38) missense probably benign 0.00
R7916:Ubr2 UTSW 17 46,968,382 (GRCm38) critical splice donor site probably null
R8236:Ubr2 UTSW 17 46,951,909 (GRCm38) missense probably benign
R8376:Ubr2 UTSW 17 46,942,795 (GRCm38) missense probably benign 0.07
R9026:Ubr2 UTSW 17 46,934,115 (GRCm38) missense probably damaging 1.00
R9216:Ubr2 UTSW 17 46,981,359 (GRCm38) missense probably benign 0.36
R9339:Ubr2 UTSW 17 46,973,939 (GRCm38) missense probably benign 0.30
R9558:Ubr2 UTSW 17 46,951,917 (GRCm38) missense probably benign
R9606:Ubr2 UTSW 17 46,934,094 (GRCm38) missense probably damaging 1.00
R9644:Ubr2 UTSW 17 46,955,780 (GRCm38) critical splice donor site probably null
R9731:Ubr2 UTSW 17 46,963,145 (GRCm38) critical splice donor site probably null
X0027:Ubr2 UTSW 17 47,000,629 (GRCm38) missense probably damaging 0.99
X0061:Ubr2 UTSW 17 46,970,111 (GRCm38) missense possibly damaging 0.88
Z1177:Ubr2 UTSW 17 47,000,766 (GRCm38) missense possibly damaging 0.76
Z1177:Ubr2 UTSW 17 46,959,509 (GRCm38) missense probably benign
Z1177:Ubr2 UTSW 17 47,010,143 (GRCm38) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- AGCTCGCCCTTAGTTGTATC -3'
(R):5'- TTCAGCTAGCTGTGTAATCTCC -3'

Sequencing Primer
(F):5'- AAAGACACTTGCCGTCCAGTTTG -3'
(R):5'- CAGTCTTTAAGCACAGTGGC -3'
Posted On 2019-10-07