Incidental Mutation 'R1136:Uhrf2'
ID 95097
Institutional Source Beutler Lab
Gene Symbol Uhrf2
Ensembl Gene ENSMUSG00000024817
Gene Name ubiquitin-like, containing PHD and RING finger domains 2
Synonyms Nirf, 2310065A22Rik, D130071B19Rik
MMRRC Submission 039209-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.717) question?
Stock # R1136 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 30007920-30071126 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 30033626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025739] [ENSMUST00000112552]
AlphaFold Q7TMI3
Predicted Effect probably benign
Transcript: ENSMUST00000025739
SMART Domains Protein: ENSMUSP00000025739
Gene: ENSMUSG00000024817

DomainStartEndE-ValueType
UBQ 1 74 8.95e-7 SMART
Pfam:TTD 125 313 2.2e-66 PFAM
PHD 347 394 9.54e-11 SMART
RING 348 393 1.38e0 SMART
SRA 444 617 2.82e-77 SMART
low complexity region 644 661 N/A INTRINSIC
RING 734 772 3.67e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112552
SMART Domains Protein: ENSMUSP00000108171
Gene: ENSMUSG00000024817

DomainStartEndE-ValueType
Blast:UBQ 1 60 3e-32 BLAST
PDB:1WY8|A 1 68 2e-34 PDB
SCOP:d1lm8b_ 1 91 2e-8 SMART
Pfam:DUF3590 164 202 6.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137368
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous KO causes deregulated expression of neuron-related genes, reduced DNA methylation in the brain and impaired contextual conditioning and spatial memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 C T 13: 68,878,436 (GRCm39) G401S probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Bmp2 T C 2: 133,402,847 (GRCm39) F133L probably damaging Het
C1qtnf3 A G 15: 10,978,670 (GRCm39) E290G probably damaging Het
Ccdc180 C A 4: 45,914,589 (GRCm39) D701E probably benign Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Csmd3 A T 15: 47,539,213 (GRCm39) I1508N probably damaging Het
Dgkh T C 14: 78,862,329 (GRCm39) R80G probably damaging Het
Dock1 T A 7: 134,449,902 (GRCm39) V805D possibly damaging Het
Eef2 C CN 10: 81,014,603 (GRCm39) probably null Het
Ercc6l2 T A 13: 64,016,934 (GRCm39) V679D possibly damaging Het
Esp6 T C 17: 40,876,284 (GRCm39) Y111H probably benign Het
Focad T C 4: 88,244,417 (GRCm39) F799S unknown Het
Foxred1 C A 9: 35,116,333 (GRCm39) M438I probably benign Het
Galnt11 T G 5: 25,463,943 (GRCm39) V405G probably damaging Het
Gm4847 A G 1: 166,457,935 (GRCm39) Y473H probably damaging Het
Gpbp1l1 C T 4: 116,450,115 (GRCm39) T461M probably damaging Het
Hnrnpu A T 1: 178,158,790 (GRCm39) probably benign Het
Kmt2d A T 15: 98,755,646 (GRCm39) probably benign Het
Matr3 A G 18: 35,705,948 (GRCm39) H291R probably damaging Het
Mfsd14b C T 13: 65,243,506 (GRCm39) S46N probably benign Het
Mtch1 C T 17: 29,552,744 (GRCm39) probably null Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Mylk T C 16: 34,820,688 (GRCm39) I1880T probably damaging Het
N4bp2 T C 5: 65,965,815 (GRCm39) L1288P probably damaging Het
Ncf2 A T 1: 152,706,123 (GRCm39) H245L probably damaging Het
Nmd3 T A 3: 69,654,049 (GRCm39) probably benign Het
Npdc1 G T 2: 25,297,727 (GRCm39) A127S probably benign Het
Nudt3 C A 17: 27,842,080 (GRCm39) R27L probably benign Het
Nwd1 C T 8: 73,424,397 (GRCm39) probably benign Het
Pex7 T A 10: 19,764,434 (GRCm39) I170F probably benign Het
Phyhipl A G 10: 70,404,902 (GRCm39) V57A probably damaging Het
Pkhd1 G A 1: 20,593,053 (GRCm39) P1687S possibly damaging Het
Plekhj1 A T 10: 80,633,654 (GRCm39) probably null Het
Prss21 T A 17: 24,091,968 (GRCm39) L312H probably damaging Het
Samsn1 T C 16: 75,670,408 (GRCm39) I232V probably null Het
Sec63 A T 10: 42,682,542 (GRCm39) D411V probably damaging Het
Slc44a4 C T 17: 35,146,998 (GRCm39) H343Y probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tent2 C T 13: 93,312,205 (GRCm39) probably null Het
Tmtc3 A G 10: 100,307,905 (GRCm39) probably benign Het
Trafd1 C T 5: 121,511,387 (GRCm39) R477H possibly damaging Het
Vmn2r68 T A 7: 84,871,549 (GRCm39) D578V possibly damaging Het
Wdcp G A 12: 4,901,655 (GRCm39) V504I possibly damaging Het
Wdr93 T C 7: 79,423,196 (GRCm39) Y487H probably damaging Het
Zfp457 T C 13: 67,441,846 (GRCm39) H147R probably damaging Het
Other mutations in Uhrf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Uhrf2 APN 19 30,051,346 (GRCm39) missense probably benign 0.03
IGL01290:Uhrf2 APN 19 30,016,701 (GRCm39) splice site probably benign
IGL01599:Uhrf2 APN 19 30,069,520 (GRCm39) missense probably damaging 1.00
IGL01724:Uhrf2 APN 19 30,052,652 (GRCm39) missense probably benign 0.29
IGL01861:Uhrf2 APN 19 30,063,804 (GRCm39) missense probably damaging 1.00
IGL02182:Uhrf2 APN 19 30,016,609 (GRCm39) missense probably benign
IGL02673:Uhrf2 APN 19 30,070,207 (GRCm39) missense probably damaging 1.00
R0502:Uhrf2 UTSW 19 30,070,176 (GRCm39) missense probably damaging 1.00
R1510:Uhrf2 UTSW 19 30,016,461 (GRCm39) splice site probably benign
R2110:Uhrf2 UTSW 19 30,033,888 (GRCm39) missense probably damaging 1.00
R3760:Uhrf2 UTSW 19 30,051,331 (GRCm39) missense probably benign 0.20
R3951:Uhrf2 UTSW 19 30,057,261 (GRCm39) missense probably damaging 1.00
R3967:Uhrf2 UTSW 19 30,057,315 (GRCm39) missense probably damaging 1.00
R3970:Uhrf2 UTSW 19 30,057,315 (GRCm39) missense probably damaging 1.00
R5129:Uhrf2 UTSW 19 30,052,621 (GRCm39) missense probably benign 0.00
R5568:Uhrf2 UTSW 19 30,016,488 (GRCm39) missense probably damaging 1.00
R5875:Uhrf2 UTSW 19 30,066,702 (GRCm39) missense probably damaging 1.00
R7053:Uhrf2 UTSW 19 30,069,519 (GRCm39) missense probably damaging 1.00
R7079:Uhrf2 UTSW 19 30,060,190 (GRCm39) missense probably null 1.00
R7298:Uhrf2 UTSW 19 30,065,949 (GRCm39) missense probably benign
R7382:Uhrf2 UTSW 19 30,048,788 (GRCm39) missense possibly damaging 0.90
R7575:Uhrf2 UTSW 19 30,048,768 (GRCm39) missense probably damaging 1.00
R7730:Uhrf2 UTSW 19 30,052,501 (GRCm39) missense probably damaging 1.00
R7959:Uhrf2 UTSW 19 30,063,660 (GRCm39) missense probably damaging 1.00
R8196:Uhrf2 UTSW 19 30,051,329 (GRCm39) missense probably benign
R9028:Uhrf2 UTSW 19 30,066,744 (GRCm39) critical splice donor site probably null
R9052:Uhrf2 UTSW 19 30,070,236 (GRCm39) missense probably damaging 1.00
R9290:Uhrf2 UTSW 19 30,055,416 (GRCm39) missense probably damaging 1.00
R9430:Uhrf2 UTSW 19 30,016,659 (GRCm39) missense probably benign 0.00
R9697:Uhrf2 UTSW 19 30,063,780 (GRCm39) missense probably damaging 0.99
R9712:Uhrf2 UTSW 19 30,033,881 (GRCm39) missense possibly damaging 0.75
RF020:Uhrf2 UTSW 19 30,063,791 (GRCm39) missense probably damaging 1.00
X0020:Uhrf2 UTSW 19 30,066,745 (GRCm39) critical splice donor site probably null
Z1177:Uhrf2 UTSW 19 30,057,261 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGCATTCTTAACATGATTCCTGCG -3'
(R):5'- CTGACAGGGAAGAAAAGGCCCTTAC -3'

Sequencing Primer
(F):5'- CTACTTCATTGAAGGAAATTGGGAC -3'
(R):5'- AAAGGCCCTTACTGTTGGGTAAC -3'
Posted On 2014-01-05