Incidental Mutation 'R7386:Rnf2'
ID 573075
Institutional Source Beutler Lab
Gene Symbol Rnf2
Ensembl Gene ENSMUSG00000026484
Gene Name ring finger protein 2
Synonyms Ring1B, dinG
MMRRC Submission 045468-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7386 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 151345149-151376747 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 151347131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 316 (E316G)
Ref Sequence ENSEMBL: ENSMUSP00000075476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076110] [ENSMUST00000186415] [ENSMUST00000187048] [ENSMUST00000190070]
AlphaFold Q9CQJ4
PDB Structure RING1B-BMI1 E3 CATALYTIC DOMAIN STRUCTURE [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000076110
AA Change: E316G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075476
Gene: ENSMUSG00000026484
AA Change: E316G

DomainStartEndE-ValueType
RING 51 90 1.7e-7 SMART
Pfam:RAWUL 234 330 1.3e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186415
AA Change: E244G

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140594
Gene: ENSMUSG00000026484
AA Change: E244G

DomainStartEndE-ValueType
RING 51 110 3.24e-4 SMART
PDB:3H8H|A 148 258 4e-78 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000187048
AA Change: E316G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140896
Gene: ENSMUSG00000026484
AA Change: E316G

DomainStartEndE-ValueType
RING 51 90 1.7e-7 SMART
PDB:3H8H|A 220 330 4e-77 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000190070
SMART Domains Protein: ENSMUSP00000139676
Gene: ENSMUSG00000026484

DomainStartEndE-ValueType
Blast:RING 1 35 7e-16 BLAST
PDB:3H8H|A 73 156 2e-56 PDB
Meta Mutation Damage Score 0.3757 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik A T 18: 69,083,208 (GRCm39) M2K unknown Het
Ablim3 T C 18: 61,955,065 (GRCm39) D308G probably damaging Het
Adamts17 A T 7: 66,618,597 (GRCm39) K370N probably benign Het
Adcy4 T C 14: 56,015,784 (GRCm39) Y435C probably damaging Het
Adgb A T 10: 10,253,693 (GRCm39) F1216I possibly damaging Het
Akr1a1 G A 4: 116,498,251 (GRCm39) T98I probably damaging Het
Alyref2 G T 1: 171,331,101 (GRCm39) probably benign Het
Ank3 T A 10: 69,658,079 (GRCm39) H168Q unknown Het
Bnc1 A C 7: 81,624,240 (GRCm39) L329R possibly damaging Het
Btaf1 G A 19: 36,935,782 (GRCm39) A191T probably benign Het
Carmil3 T G 14: 55,735,204 (GRCm39) probably null Het
Cd200r1 C A 16: 44,610,211 (GRCm39) D143E probably benign Het
Cep112 A G 11: 108,699,507 (GRCm39) H98R probably benign Het
Cmya5 T A 13: 93,205,831 (GRCm39) Q3346L probably damaging Het
Cpne4 T A 9: 104,749,939 (GRCm39) V81E possibly damaging Het
Ctnnd2 T A 15: 30,966,914 (GRCm39) M955K probably damaging Het
Ctsj A T 13: 61,148,373 (GRCm39) M307K possibly damaging Het
Ddhd2 G T 8: 26,244,318 (GRCm39) R103S possibly damaging Het
Depdc5 A G 5: 33,085,280 (GRCm39) T700A probably benign Het
Dhx57 A C 17: 80,575,006 (GRCm39) D657E possibly damaging Het
Dmbt1 G A 7: 130,713,965 (GRCm39) G1678S unknown Het
Dnajb1 A G 8: 84,336,932 (GRCm39) D234G probably benign Het
Dsc2 C T 18: 20,174,983 (GRCm39) V431M possibly damaging Het
Evi5 C A 5: 107,957,689 (GRCm39) probably null Het
Exoc2 T C 13: 31,090,646 (GRCm39) probably null Het
Foxo3 T C 10: 42,073,356 (GRCm39) D387G probably benign Het
Gda A G 19: 21,387,250 (GRCm39) I325T probably benign Het
Iqgap1 A G 7: 80,375,790 (GRCm39) S1362P probably damaging Het
Klf10 G T 15: 38,297,193 (GRCm39) N282K possibly damaging Het
Mettl13 A G 1: 162,375,723 (GRCm39) Y35H probably damaging Het
Mill2 A G 7: 18,592,215 (GRCm39) T279A probably benign Het
Ncaph2 G A 15: 89,254,459 (GRCm39) W386* probably null Het
Nploc4 A T 11: 120,299,707 (GRCm39) S338T probably benign Het
Nrip1 T C 16: 76,090,775 (GRCm39) S261G probably damaging Het
Or2y16 T C 11: 49,335,227 (GRCm39) F183S possibly damaging Het
Or5al1 A G 2: 85,989,874 (GRCm39) V280A possibly damaging Het
Or7a38 T A 10: 78,752,677 (GRCm39) M1K probably null Het
Palld A G 8: 61,985,086 (GRCm39) F1060L unknown Het
Pfas C G 11: 68,894,600 (GRCm39) V22L probably benign Het
Pygo2 T G 3: 89,340,128 (GRCm39) F175L probably benign Het
Rtn4 T A 11: 29,657,772 (GRCm39) M642K probably damaging Het
Saa3 A G 7: 46,364,347 (GRCm39) C60R unknown Het
Saxo5 A G 8: 3,537,079 (GRCm39) K475R probably benign Het
Scap A G 9: 110,202,237 (GRCm39) T202A probably benign Het
Scn9a T A 2: 66,370,894 (GRCm39) D562V probably damaging Het
Slc6a19 A T 13: 73,838,010 (GRCm39) V163E possibly damaging Het
Smc5 G A 19: 23,192,539 (GRCm39) H850Y possibly damaging Het
Spef1l A T 7: 139,555,965 (GRCm39) C225* probably null Het
Sqle G A 15: 59,202,603 (GRCm39) R519Q probably benign Het
Sulf1 T C 1: 12,908,585 (GRCm39) Y533H probably benign Het
Thbs2 A G 17: 14,893,412 (GRCm39) S923P possibly damaging Het
Themis A G 10: 28,665,743 (GRCm39) D602G probably benign Het
Tmem132c A G 5: 127,640,990 (GRCm39) K1054E probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tnrc6c T A 11: 117,612,780 (GRCm39) C313S probably benign Het
Top6bl G A 19: 4,713,586 (GRCm39) R285* probably null Het
Tpm1 T C 9: 66,935,449 (GRCm39) I284M probably benign Het
Trpm4 A T 7: 44,964,064 (GRCm39) L722H possibly damaging Het
Trub2 T G 2: 29,676,607 (GRCm39) Q41P probably benign Het
Usp17le A C 7: 104,417,514 (GRCm39) probably null Het
Zfp398 G A 6: 47,835,884 (GRCm39) V148I probably benign Het
Zfp40 T C 17: 23,395,981 (GRCm39) E202G probably damaging Het
Zfp618 T A 4: 63,013,622 (GRCm39) probably null Het
Zfp667 T A 7: 6,308,949 (GRCm39) I539N possibly damaging Het
Zfp738 A T 13: 67,818,369 (GRCm39) C541S probably damaging Het
Other mutations in Rnf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02515:Rnf2 APN 1 151,347,446 (GRCm39) missense probably benign 0.03
R1913:Rnf2 UTSW 1 151,351,936 (GRCm39) missense probably damaging 1.00
R4333:Rnf2 UTSW 1 151,348,827 (GRCm39) missense possibly damaging 0.68
R4965:Rnf2 UTSW 1 151,348,968 (GRCm39) nonsense probably null
R6323:Rnf2 UTSW 1 151,348,967 (GRCm39) missense probably damaging 0.98
R6886:Rnf2 UTSW 1 151,349,017 (GRCm39) missense possibly damaging 0.85
R7474:Rnf2 UTSW 1 151,347,467 (GRCm39) missense probably benign
R9055:Rnf2 UTSW 1 151,352,030 (GRCm39) missense probably damaging 1.00
R9125:Rnf2 UTSW 1 151,347,433 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AAACTGAACATATCCCAGGTCTG -3'
(R):5'- CAATGCCTGTTGAGCTCCTTG -3'

Sequencing Primer
(F):5'- TATCCCAGGTCTGTCCATGAAAG -3'
(R):5'- CCTGTTGAGCTCCTTGGCTAG -3'
Posted On 2019-09-13