Incidental Mutation 'R9125:Rnf2'
ID 693153
Institutional Source Beutler Lab
Gene Symbol Rnf2
Ensembl Gene ENSMUSG00000026484
Gene Name ring finger protein 2
Synonyms Ring1B, dinG
MMRRC Submission 068925-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9125 (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 151347433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 289 (K289E)
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 benign
Transcript: ENSMUST00000076110
AA Change: K289E

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000075476
Gene: ENSMUSG00000026484
AA Change: K289E

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: K217E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140594
Gene: ENSMUSG00000026484
AA Change: K217E

DomainStartEndE-ValueType
RING 51 110 3.24e-4 SMART
PDB:3H8H|A 148 258 4e-78 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000187048
AA Change: K289E

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000140896
Gene: ENSMUSG00000026484
AA Change: K289E

DomainStartEndE-ValueType
RING 51 90 1.7e-7 SMART
PDB:3H8H|A 220 330 4e-77 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000190070
AA Change: K142E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139676
Gene: ENSMUSG00000026484
AA Change: K142E

DomainStartEndE-ValueType
Blast:RING 1 35 7e-16 BLAST
PDB:3H8H|A 73 156 2e-56 PDB
Meta Mutation Damage Score 0.0893 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (64/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 G A 17: 84,976,425 (GRCm39) H471Y probably damaging Het
Adam3 A G 8: 25,213,517 (GRCm39) L61P probably damaging Het
Ank2 T A 3: 126,733,744 (GRCm39) D622V probably damaging Het
Antxr2 G A 5: 98,151,973 (GRCm39) S166F probably damaging Het
Asph C T 4: 9,474,928 (GRCm39) G682D possibly damaging Het
Asz1 T C 6: 18,054,561 (GRCm39) E414G probably benign Het
Cabp2 G A 19: 4,135,597 (GRCm39) D96N probably damaging Het
Cc2d2a T A 5: 43,860,563 (GRCm39) D546E probably benign Het
Cdca2 T A 14: 67,917,762 (GRCm39) R545S probably benign Het
Chrna7 G A 7: 62,757,357 (GRCm39) Q181* probably null Het
Cib1 T C 7: 79,877,751 (GRCm39) D182G probably damaging Het
Cib4 T C 5: 30,655,477 (GRCm39) H76R probably benign Het
Cop1 T G 1: 159,067,187 (GRCm39) F157V probably damaging Het
Cspg4b C T 13: 113,505,374 (GRCm39) P2168S Het
Dap3 T A 3: 88,837,861 (GRCm39) T130S probably benign Het
Ddb2 T A 2: 91,064,593 (GRCm39) K106* probably null Het
Derl3 G A 10: 75,730,443 (GRCm39) V169I probably benign Het
Dusp6 T A 10: 99,102,074 (GRCm39) C353* probably null Het
Efcab3 A T 11: 104,736,360 (GRCm39) D2110V probably damaging Het
Fry A G 5: 150,269,525 (GRCm39) N217S probably damaging Het
Gabrb2 A G 11: 42,482,693 (GRCm39) T184A probably damaging Het
Gfpt1 G A 6: 87,053,248 (GRCm39) V403I probably benign Het
Gm7276 A G 18: 77,273,147 (GRCm39) S196P unknown Het
Grik1 T A 16: 87,852,956 (GRCm39) T76S Het
Hrnr A G 3: 93,238,863 (GRCm39) N3034D unknown Het
Kmt2c T C 5: 25,489,194 (GRCm39) T4582A possibly damaging Het
Mroh9 T C 1: 162,875,412 (GRCm39) I496V probably benign Het
Muc3a A G 5: 137,245,210 (GRCm39) L115P probably damaging Het
Nfe2 A G 15: 103,157,871 (GRCm39) L40P probably damaging Het
Nipsnap3b A T 4: 53,021,177 (GRCm39) D216V probably damaging Het
Or5d14 C T 2: 87,880,294 (GRCm39) V225M probably damaging Het
Or8b49 T A 9: 38,506,108 (GRCm39) I197K probably damaging Het
Otx1 G A 11: 21,949,458 (GRCm39) Q7* probably null Het
Piezo2 A G 18: 63,178,589 (GRCm39) I1776T probably benign Het
Pira12 T A 7: 3,900,021 (GRCm39) I194L possibly damaging Het
Ppp1r37 T C 7: 19,269,014 (GRCm39) D162G probably benign Het
Ppp4c T A 7: 126,386,739 (GRCm39) E116V probably damaging Het
Pramel17 A G 4: 101,694,073 (GRCm39) V270A probably benign Het
Prorp A T 12: 55,355,611 (GRCm39) D372V possibly damaging Het
Psme2 T A 14: 55,828,302 (GRCm39) K15N possibly damaging Het
Retreg1 C T 15: 25,968,618 (GRCm39) R125C probably damaging Het
Rgs16 A G 1: 153,617,874 (GRCm39) E128G probably null Het
Rnf145 G T 11: 44,450,819 (GRCm39) R381L probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Ryr2 A G 13: 11,669,292 (GRCm39) V3504A probably benign Het
Selp T A 1: 163,951,356 (GRCm39) I30N probably benign Het
Serpinb5 C T 1: 106,798,137 (GRCm39) A42V probably benign Het
Sfpq G A 4: 126,915,633 (GRCm39) G142S unknown Het
Sh2d1b2 T C 1: 170,075,751 (GRCm39) Y62H possibly damaging Het
Sipa1l3 C T 7: 29,086,656 (GRCm39) E645K probably damaging Het
Slc22a1 T A 17: 12,878,598 (GRCm39) T372S probably benign Het
Smarca2 T A 19: 26,693,583 (GRCm39) D1262E possibly damaging Het
Speer4a3 T C 5: 26,156,596 (GRCm39) M128V possibly damaging Het
Sptbn2 A T 19: 4,784,241 (GRCm39) Q661L probably benign Het
Tarbp1 G T 8: 127,174,202 (GRCm39) T868K possibly damaging Het
Tnfrsf8 A G 4: 145,023,531 (GRCm39) S101P probably damaging Het
Tnfsf10 A C 3: 27,380,028 (GRCm39) probably benign Het
Tsc2 C T 17: 24,823,802 (GRCm39) R1001K probably null Het
Unc80 T A 1: 66,718,740 (GRCm39) S2988T probably benign Het
Vmn1r195 A G 13: 22,463,335 (GRCm39) I268M possibly damaging Het
Vmn1r27 G A 6: 58,192,416 (GRCm39) T196I probably benign Het
Vmn2r80 T A 10: 78,984,760 (GRCm39) D37E probably benign Het
Vmn2r9 A T 5: 108,996,047 (GRCm39) H200Q Het
Washc5 T C 15: 59,209,134 (GRCm39) Y1030C probably damaging Het
Wdr47 T C 3: 108,526,106 (GRCm39) F210L probably damaging Het
Wscd2 C A 5: 113,715,417 (GRCm39) A419E probably benign 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
R7386:Rnf2 UTSW 1 151,347,131 (GRCm39) missense probably damaging 1.00
R7474:Rnf2 UTSW 1 151,347,467 (GRCm39) missense probably benign
R9055:Rnf2 UTSW 1 151,352,030 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGTGCTCAGTAACAGTGAG -3'
(R):5'- TGGCTCCATGATTTAGGAACTTC -3'

Sequencing Primer
(F):5'- AAAGGCCACAGGATCCCGTG -3'
(R):5'- CAATGCCACTGTTGATCAC -3'
Posted On 2022-01-20