Incidental Mutation 'R5129:Uhrf2'
ID394933
Institutional Source Beutler Lab
Gene Symbol Uhrf2
Ensembl Gene ENSMUSG00000024817
Gene Nameubiquitin-like, containing PHD and RING finger domains 2
SynonymsNirf, D130071B19Rik, 2310065A22Rik
MMRRC Submission 042717-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.641) question?
Stock #R5129 (G1)
Quality Score225
Status Validated
Chromosome19
Chromosomal Location30030513-30093722 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30075221 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 372 (I372V)
Ref Sequence ENSEMBL: ENSMUSP00000025739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025739]
Predicted Effect probably benign
Transcript: ENSMUST00000025739
AA Change: I372V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025739
Gene: ENSMUSG00000024817
AA Change: I372V

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 noncoding transcript
Transcript: ENSMUST00000129420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150532
Meta Mutation Damage Score 0.0836 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (51/52)
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
4930432E11Rik A G 7: 29,561,361 noncoding transcript Het
Abcf1 C T 17: 35,960,795 probably benign Het
Adamts14 T A 10: 61,249,618 D209V probably benign Het
Aldh3b1 A G 19: 3,915,336 F392L probably benign Het
Atp1a2 A T 1: 172,275,955 D999E probably benign Het
Capn7 T C 14: 31,344,511 V94A probably damaging Het
Cdh13 A G 8: 119,095,215 D271G probably damaging Het
Cntnap5b G A 1: 100,379,090 G844D probably damaging Het
Col6a4 T C 9: 106,013,377 E1906G probably damaging Het
Daw1 T C 1: 83,205,903 Y225H probably damaging Het
Dvl3 T A 16: 20,517,340 M49K possibly damaging Het
Eef1b2 T G 1: 63,179,580 S175A probably damaging Het
Epb41l1 A T 2: 156,509,281 Y425F possibly damaging Het
Fam43b A T 4: 138,395,472 L179* probably null Het
Fbxw28 A G 9: 109,326,603 L314P probably damaging Het
Fstl4 C A 11: 53,186,439 D674E probably damaging Het
G3bp1 T C 11: 55,489,116 V92A possibly damaging Het
Gm3604 A T 13: 62,369,774 Y257N probably benign Het
Gm5415 C A 1: 32,545,479 R450M probably damaging Het
Gm5415 T A 1: 32,545,480 R450W probably damaging Het
Gm5900 A G 7: 104,950,016 noncoding transcript Het
Hectd4 G A 5: 121,343,510 V3041M possibly damaging Het
Hivep2 A G 10: 14,130,864 K1069E probably damaging Het
Hlf T C 11: 90,390,252 D38G probably benign Het
Hsd3b7 C A 7: 127,801,134 C18* probably null Het
Kdm5a T C 6: 120,405,022 C676R probably damaging Het
Klhdc7b A G 15: 89,388,548 Y1211C probably damaging Het
Krt78 C A 15: 101,947,580 V599L possibly damaging Het
Mroh9 C G 1: 163,060,760 G249R probably damaging Het
Nbas T C 12: 13,390,960 L1097P probably damaging Het
Nf2 A C 11: 4,816,145 D87E probably benign Het
Olfr113 T C 17: 37,575,180 Y81C probably damaging Het
Olfr961 T A 9: 39,647,494 I256N probably benign Het
Ppil3 A G 1: 58,440,833 probably benign Het
Prrc2a T C 17: 35,160,178 E276G unknown Het
Spata16 A G 3: 26,667,564 E78G probably damaging Het
Tlr3 A T 8: 45,402,981 I54K probably damaging Het
Tmem72 A G 6: 116,702,013 L34P probably damaging Het
Triobp A G 15: 78,961,096 R213G probably benign Het
Tyrp1 T A 4: 80,846,607 V7D probably damaging Het
Uty T C Y: 1,158,592 T484A probably benign Het
Vcan T C 13: 89,690,240 D2395G probably damaging Het
Vmn1r225 T A 17: 20,503,116 I273N probably damaging Het
Zfp451 C T 1: 33,802,933 probably benign Het
Zfp457 T C 13: 67,293,356 E385G probably benign Het
Zfp74 C T 7: 29,932,455 M121I probably benign Het
Zfp866 A T 8: 69,767,709 probably null Het
Zfp874a A T 13: 67,442,981 C195S probably damaging Het
Other mutations in Uhrf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Uhrf2 APN 19 30073946 missense probably benign 0.03
IGL01290:Uhrf2 APN 19 30039301 splice site probably benign
IGL01599:Uhrf2 APN 19 30092120 missense probably damaging 1.00
IGL01724:Uhrf2 APN 19 30075252 missense probably benign 0.29
IGL01861:Uhrf2 APN 19 30086404 missense probably damaging 1.00
IGL02182:Uhrf2 APN 19 30039209 missense probably benign
IGL02673:Uhrf2 APN 19 30092807 missense probably damaging 1.00
R0502:Uhrf2 UTSW 19 30092776 missense probably damaging 1.00
R1136:Uhrf2 UTSW 19 30056226 splice site probably benign
R1510:Uhrf2 UTSW 19 30039061 splice site probably benign
R2110:Uhrf2 UTSW 19 30056488 missense probably damaging 1.00
R3760:Uhrf2 UTSW 19 30073931 missense probably benign 0.20
R3951:Uhrf2 UTSW 19 30079861 missense probably damaging 1.00
R3967:Uhrf2 UTSW 19 30079915 missense probably damaging 1.00
R3970:Uhrf2 UTSW 19 30079915 missense probably damaging 1.00
R5568:Uhrf2 UTSW 19 30039088 missense probably damaging 1.00
R5875:Uhrf2 UTSW 19 30089302 missense probably damaging 1.00
R7053:Uhrf2 UTSW 19 30092119 missense probably damaging 1.00
R7079:Uhrf2 UTSW 19 30082790 missense probably null 1.00
R7298:Uhrf2 UTSW 19 30088549 missense probably benign
R7382:Uhrf2 UTSW 19 30071388 missense possibly damaging 0.90
R7575:Uhrf2 UTSW 19 30071368 missense probably damaging 1.00
R7730:Uhrf2 UTSW 19 30075101 missense probably damaging 1.00
R7959:Uhrf2 UTSW 19 30086260 missense probably damaging 1.00
R8196:Uhrf2 UTSW 19 30073929 missense probably benign
RF020:Uhrf2 UTSW 19 30086391 missense probably damaging 1.00
X0020:Uhrf2 UTSW 19 30089345 critical splice donor site probably null
Z1177:Uhrf2 UTSW 19 30079861 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTTATTAAACCTCACCCTGG -3'
(R):5'- CCAAGTGACCACCAGCTATG -3'

Sequencing Primer
(F):5'- GCTCAGTAGTTAAGAGCACTGTC -3'
(R):5'- CAGATTTCTACCAGTTTGAGGCCAG -3'
Posted On2016-06-21