Incidental Mutation 'R4965:Rnf2'
ID 383858
Institutional Source Beutler Lab
Gene Symbol Rnf2
Ensembl Gene ENSMUSG00000026484
Gene Name ring finger protein 2
Synonyms dinG, Ring1B
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4965 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 151458004-151500955 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 151473217 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 51 (K51*)
Ref Sequence ENSEMBL: ENSMUSP00000139676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076110] [ENSMUST00000186415] [ENSMUST00000187048] [ENSMUST00000187991] [ENSMUST00000190070]
AlphaFold Q9CQJ4
Predicted Effect probably null
Transcript: ENSMUST00000076110
AA Change: K198*
SMART Domains Protein: ENSMUSP00000075476
Gene: ENSMUSG00000026484
AA Change: K198*

RING 51 90 1.7e-7 SMART
Pfam:RAWUL 234 330 1.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185945
Predicted Effect probably null
Transcript: ENSMUST00000186415
AA Change: K126*
SMART Domains Protein: ENSMUSP00000140594
Gene: ENSMUSG00000026484
AA Change: K126*

RING 51 110 3.24e-4 SMART
PDB:3H8H|A 148 258 4e-78 PDB
Predicted Effect probably null
Transcript: ENSMUST00000187048
AA Change: K198*
SMART Domains Protein: ENSMUSP00000140896
Gene: ENSMUSG00000026484
AA Change: K198*

RING 51 90 1.7e-7 SMART
PDB:3H8H|A 220 330 4e-77 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000187991
SMART Domains Protein: ENSMUSP00000140299
Gene: ENSMUSG00000026484

Pfam:zf-C3HC4 51 73 2.7e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188871
Predicted Effect probably null
Transcript: ENSMUST00000190070
AA Change: K51*
SMART Domains Protein: ENSMUSP00000139676
Gene: ENSMUSG00000026484
AA Change: K51*

Blast:RING 1 35 7e-16 BLAST
PDB:3H8H|A 73 156 2e-56 PDB
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polycomb group (PcG) of proteins form the multiprotein complexes that are important for the transcription repression of various genes involved in development and cell proliferation. The protein encoded by this gene is one of the PcG proteins. It has been shown to interact with, and suppress the activity of, transcription factor CP2 (TFCP2/CP2). Studies of the mouse counterpart suggested the involvement of this gene in the specification of anterior-posterior axis, as well as in cell proliferation in early development. This protein was also found to interact with huntingtin interacting protein 2 (HIP2), an ubiquitin-conjugating enzyme, and possess ubiquitin ligase activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a null allele show an early growth arrest, failure to progress through gastrulation, impaired epiblast expansion, accumulation of posterior mesoderm and die before E10.5. Mice homozygous for a hypomorphic allele show posterior homeotic transformations of the axial skeleton. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 117 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 138,069,672 (GRCm38) T1541A probably benign Het
2810474O19Rik G T 6: 149,328,398 (GRCm38) G981* probably null Het
4931423N10Rik C A 2: 23,245,115 (GRCm38) T312K probably benign Het
9530002B09Rik T C 4: 122,700,492 (GRCm38) M59T probably benign Het
Adam18 C T 8: 24,641,811 (GRCm38) C428Y probably damaging Het
Adcy5 A G 16: 35,278,502 (GRCm38) E700G possibly damaging Het
Adprh G T 16: 38,445,780 (GRCm38) Y333* probably null Het
Agfg2 C A 5: 137,667,177 (GRCm38) probably null Het
Akip1 A T 7: 109,711,754 (GRCm38) E167V probably damaging Het
Akr1c21 A T 13: 4,580,305 (GRCm38) Q199L probably damaging Het
Aldh9a1 C A 1: 167,365,789 (GRCm38) A455E probably damaging Het
Amph G A 13: 19,137,699 (GRCm38) S520N probably benign Het
Ankrd52 A G 10: 128,390,507 (GRCm38) D1006G probably benign Het
Ap5z1 A C 5: 142,467,676 (GRCm38) Q133P probably damaging Het
Babam1 C T 8: 71,404,388 (GRCm38) A331V possibly damaging Het
Btc T C 5: 91,362,301 (GRCm38) probably null Het
Cacna2d3 A G 14: 28,982,332 (GRCm38) F831L probably benign Het
Cadm3 G A 1: 173,337,097 (GRCm38) P372L probably damaging Het
Capn5 A T 7: 98,126,417 (GRCm38) M439K probably damaging Het
Carf T C 1: 60,150,637 (GRCm38) S639P probably damaging Het
Casp12 C T 9: 5,352,250 (GRCm38) R81C probably benign Het
Ces2e G T 8: 104,933,698 (GRCm38) R555M probably benign Het
Cfap54 T A 10: 93,066,799 (GRCm38) I164F probably benign Het
Cltc C T 11: 86,707,501 (GRCm38) V1012I probably damaging Het
Cmya5 G A 13: 93,095,787 (GRCm38) T931I possibly damaging Het
Cntn6 A G 6: 104,774,474 (GRCm38) I364V probably damaging Het
Cntnap1 A T 11: 101,177,425 (GRCm38) I59F possibly damaging Het
Cop1 T C 1: 159,239,597 (GRCm38) M80T probably damaging Het
Cplx2 A G 13: 54,379,647 (GRCm38) S115G possibly damaging Het
Crtac1 A G 19: 42,318,740 (GRCm38) Y195H probably damaging Het
Csn1s2a A C 5: 87,781,838 (GRCm38) S99R possibly damaging Het
Csn1s2b T A 5: 87,813,961 (GRCm38) D41E possibly damaging Het
Cul9 C T 17: 46,538,525 (GRCm38) D565N probably damaging Het
Cux1 A T 5: 136,311,556 (GRCm38) N625K possibly damaging Het
Cyp2c37 A T 19: 40,011,762 (GRCm38) M443L possibly damaging Het
Cyp2s1 G A 7: 25,809,285 (GRCm38) T244I possibly damaging Het
Dgkh C T 14: 78,624,421 (GRCm38) V135M probably damaging Het
Dtl T C 1: 191,546,565 (GRCm38) E395G possibly damaging Het
Dyrk1a G T 16: 94,691,995 (GRCm38) G658* probably null Het
Erlin2 T C 8: 27,029,595 (GRCm38) F117S probably damaging Het
Fkbp8 A G 8: 70,531,523 (GRCm38) probably null Het
Fras1 T C 5: 96,726,580 (GRCm38) F2288S possibly damaging Het
Frmd3 A G 4: 74,153,600 (GRCm38) T240A probably damaging Het
H2-D1 A G 17: 35,263,905 (GRCm38) Y137C probably damaging Het
Helz2 A G 2: 181,240,916 (GRCm38) V28A possibly damaging Het
Hydin A G 8: 110,398,095 (GRCm38) I579V probably benign Het
Il6 A T 5: 30,013,493 (GRCm38) Y29F possibly damaging Het
Ildr2 A G 1: 166,307,840 (GRCm38) D368G probably damaging Het
Junb T A 8: 84,978,159 (GRCm38) I91F probably damaging Het
Kat2a A T 11: 100,712,204 (GRCm38) probably benign Het
Kat2a C A 11: 100,712,203 (GRCm38) probably benign Het
Kcnh5 T A 12: 74,965,151 (GRCm38) T665S probably benign Het
Kdm1b A T 13: 47,074,367 (GRCm38) D608V probably damaging Het
Krcc1 A G 6: 71,284,637 (GRCm38) K218E probably damaging Het
Krt8 C T 15: 101,996,951 (GRCm38) V488M probably benign Het
Lzts1 C T 8: 69,138,762 (GRCm38) A245T probably benign Het
Mcm6 T A 1: 128,359,486 (GRCm38) Q27L probably damaging Het
Mfsd4b3 G T 10: 39,947,690 (GRCm38) Y191* probably null Het
Mgme1 T C 2: 144,279,620 (GRCm38) L332P probably benign Het
Mgme1 C T 2: 144,276,404 (GRCm38) Q199* probably null Het
Morc3 G T 16: 93,860,587 (GRCm38) E25* probably null Het
Mroh7 G A 4: 106,690,987 (GRCm38) A1098V possibly damaging Het
Mtrf1 G A 14: 79,406,587 (GRCm38) R174H probably benign Het
Mybpc3 G A 2: 91,119,247 (GRCm38) G45D possibly damaging Het
Mycbpap A T 11: 94,504,938 (GRCm38) N733K probably damaging Het
N4bp1 T C 8: 86,851,686 (GRCm38) I684V possibly damaging Het
Nav2 A T 7: 49,552,877 (GRCm38) R1470* probably null Het
Ndufa9 A T 6: 126,822,063 (GRCm38) S364T probably benign Het
Nipal4 C A 11: 46,162,010 (GRCm38) A43S possibly damaging Het
Nlrp1a T A 11: 71,092,315 (GRCm38) Y1275F possibly damaging Het
Nova1 A T 12: 46,720,835 (GRCm38) L8* probably null Het
Odam G T 5: 87,890,108 (GRCm38) G181* probably null Het
Olfr1111 T A 2: 87,150,659 (GRCm38) M1L possibly damaging Het
Olfr1297 T C 2: 111,621,534 (GRCm38) D180G probably damaging Het
Olfr15 T C 16: 3,839,570 (GRCm38) L199P probably damaging Het
Olfr186 A T 16: 59,027,333 (GRCm38) D191E probably damaging Het
Olfr283 T C 15: 98,379,149 (GRCm38) probably benign Het
Olfr33 A T 7: 102,713,495 (GRCm38) I306N probably damaging Het
Olfr723 C T 14: 49,928,897 (GRCm38) V216I probably benign Het
Optn T A 2: 5,021,379 (GRCm38) Q576L probably benign Het
Patl2 G T 2: 122,128,848 (GRCm38) S45* probably null Het
Pde2a G A 7: 101,502,933 (GRCm38) G349E probably benign Het
Pdlim2 T A 14: 70,168,015 (GRCm38) probably benign Het
Per1 T C 11: 69,104,401 (GRCm38) V653A probably benign Het
Phlda2 A G 7: 143,502,268 (GRCm38) S75P probably damaging Het
Poldip3 A T 15: 83,137,505 (GRCm38) M167K possibly damaging Het
Prpf38a T C 4: 108,579,081 (GRCm38) I12V probably benign Het
Prrc1 G A 18: 57,374,550 (GRCm38) V259I possibly damaging Het
Ptges3l A T 11: 101,424,622 (GRCm38) M1K probably null Het
Rdh5 A G 10: 128,913,784 (GRCm38) Y296H probably damaging Het
Rpusd3 C A 6: 113,416,848 (GRCm38) R215L probably benign Het
Rsph4a A T 10: 33,909,240 (GRCm38) E382D probably damaging Het
S1pr2 G A 9: 20,968,449 (GRCm38) Q28* probably null Het
Sesn1 A T 10: 41,895,009 (GRCm38) I179F probably damaging Het
Setd3 T A 12: 108,113,371 (GRCm38) E291V probably benign Het
Shc1 G T 3: 89,426,996 (GRCm38) R323L probably damaging Het
Slc22a5 T C 11: 53,891,526 (GRCm38) D5G possibly damaging Het
Slc6a19 T C 13: 73,700,558 (GRCm38) K26E probably benign Het
Slc9a3 A G 13: 74,164,293 (GRCm38) N670D possibly damaging Het
Spata19 A T 9: 27,400,465 (GRCm38) I127L probably benign Het
Speg G T 1: 75,427,703 (GRCm38) V2751L probably damaging Het
Sptbn2 A G 19: 4,729,309 (GRCm38) D298G probably benign Het
Srm T C 4: 148,594,183 (GRCm38) V289A possibly damaging Het
Stip1 C T 19: 7,035,570 (GRCm38) A49T probably benign Het
Tas2r118 C A 6: 23,969,628 (GRCm38) V145F probably benign Het
Tbc1d12 A T 19: 38,865,725 (GRCm38) K284* probably null Het
Tfcp2 T C 15: 100,525,650 (GRCm38) H125R probably damaging Het
Tfdp1 T C 8: 13,373,073 (GRCm38) V206A probably damaging Het
Tgtp2 A G 11: 49,059,410 (GRCm38) W112R probably damaging Het
Tmem71 T G 15: 66,538,861 (GRCm38) M221L probably benign Het
Tpcn1 T C 5: 120,547,487 (GRCm38) N436S possibly damaging Het
Usp4 C T 9: 108,362,620 (GRCm38) L183F probably damaging Het
Vmn2r55 A T 7: 12,670,551 (GRCm38) N308K possibly damaging Het
Zfp106 T A 2: 120,533,919 (GRCm38) D669V probably damaging Het
Zfp108 A T 7: 24,260,148 (GRCm38) I55L probably benign Het
Zfp512b A T 2: 181,586,338 (GRCm38) S8R probably damaging Het
Zfp827 T C 8: 79,061,281 (GRCm38) S359P probably benign Het
Other mutations in Rnf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02515:Rnf2 APN 1 151,471,695 (GRCm38) missense probably benign 0.03
R1913:Rnf2 UTSW 1 151,476,185 (GRCm38) missense probably damaging 1.00
R4333:Rnf2 UTSW 1 151,473,076 (GRCm38) missense possibly damaging 0.68
R6323:Rnf2 UTSW 1 151,473,216 (GRCm38) missense probably damaging 0.98
R6886:Rnf2 UTSW 1 151,473,266 (GRCm38) missense possibly damaging 0.85
R7386:Rnf2 UTSW 1 151,471,380 (GRCm38) missense probably damaging 1.00
R7474:Rnf2 UTSW 1 151,471,716 (GRCm38) missense probably benign
R9055:Rnf2 UTSW 1 151,476,279 (GRCm38) missense probably damaging 1.00
R9125:Rnf2 UTSW 1 151,471,682 (GRCm38) missense probably benign 0.03
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-04-27