Incidental Mutation 'R3827:Rrm2'
ID 273813
Institutional Source Beutler Lab
Gene Symbol Rrm2
Ensembl Gene ENSMUSG00000020649
Gene Name ribonucleotide reductase M2
Synonyms R2
MMRRC Submission 040775-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3827 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 24758253-24764145 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 24758598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 47 (A47S)
Ref Sequence ENSEMBL: ENSMUSP00000020980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020980] [ENSMUST00000153058] [ENSMUST00000154588]
AlphaFold P11157
PDB Structure SMALL SUBUNIT C-TERMINAL INHIBITORY PEPTIDE OF MOUSE RIBONUCLEOTIDE REDUCTASE AS BOUND TO THE LARGE SUBUNIT, NMR, 26 STRUCTURES [SOLUTION NMR]
COBALT SUBSTITUTION OF MOUSE R2 RIBONUCLEOTIDE REDUCTASE TO MODEL THE REACTIVE DIFERROUS STATE [X-RAY DIFFRACTION]
COBALT SUBSTITUTION OF MOUSE R2 RIBONUCLEOTIDE REDUCTASE TO MODEL THE REACTIVE DIFERROUS STATE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MOUSE RIBONUCLEOTIDE REDUCTASE SUBUNIT R2 UNDER OXIDIZING CONDITIONS. A FULLY OCCUPIED DINUCLEAR IRON CLUSTER. [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MOUSE RIBONUCLEOTIDE REDUCTASE SUBUNIT R2 UNDER REDUCING CONDITIONS. A FULLY OCCUPIED DINUCLEAR IRON CLUSTER AND BOUND ACETATE. [X-RAY DIFFRACTION]
PROTEIN R2 OF RIBONUCLEOTIDE REDUCTASE FROM MOUSE [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000020980
AA Change: A47S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020980
Gene: ENSMUSG00000020649
AA Change: A47S

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 80 347 1.6e-124 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147789
Predicted Effect probably benign
Transcript: ENSMUST00000153058
SMART Domains Protein: ENSMUSP00000120893
Gene: ENSMUSG00000020649

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Ribonuc_red_sm 40 225 2.6e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154588
SMART Domains Protein: ENSMUSP00000119502
Gene: ENSMUSG00000020649

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 1 181 2.7e-88 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. Transcription from this gene can initiate from alternative promoters, which results in two isoforms that differ in the lengths of their N-termini. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 A G 16: 35,110,467 (GRCm39) N878S probably benign Het
Bach2 T A 4: 32,563,150 (GRCm39) L539H probably damaging Het
Cntnap5a G A 1: 116,045,409 (GRCm39) D342N probably benign Het
Cx3cl1 A T 8: 95,503,934 (GRCm39) probably benign Het
Dpp10 G A 1: 123,339,519 (GRCm39) T336I possibly damaging Het
Ehmt2 T C 17: 35,125,741 (GRCm39) S625P possibly damaging Het
Fam234a T C 17: 26,437,163 (GRCm39) E172G probably benign Het
Ffar2 A T 7: 30,519,510 (GRCm39) I10N possibly damaging Het
Gab2 T A 7: 96,872,948 (GRCm39) I117N probably damaging Het
Gm17521 C A X: 121,938,922 (GRCm39) G149C unknown Het
Gper1 T C 5: 139,412,755 (GRCm39) S367P probably benign Het
Grpel1 T A 5: 36,626,827 (GRCm39) N36K probably benign Het
H2-Q6 A T 17: 35,644,655 (GRCm39) N148I probably damaging Het
Kif21b T C 1: 136,090,732 (GRCm39) probably null Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Or1o4 T A 17: 37,591,140 (GRCm39) Y57F probably damaging Het
Or52e19 T A 7: 102,959,009 (GRCm39) I27N probably benign Het
Paip1 T A 13: 119,566,768 (GRCm39) M1K probably null Het
Rgs12 G A 5: 35,123,359 (GRCm39) V381M possibly damaging Het
Rsph6a T C 7: 18,791,539 (GRCm39) L236P probably damaging Het
Rtkn2 A T 10: 67,833,456 (GRCm39) probably null Het
Sh3bp1 T C 15: 78,788,697 (GRCm39) S241P possibly damaging Het
Skint6 G T 4: 112,794,634 (GRCm39) L712I probably benign Het
Slc35a4 C A 18: 36,816,041 (GRCm39) N290K probably damaging Het
Slco1a5 T A 6: 142,198,975 (GRCm39) D230V probably damaging Het
Sox21 C T 14: 118,472,870 (GRCm39) E60K possibly damaging Het
Steap3 G A 1: 120,155,460 (GRCm39) R500C probably damaging Het
Stk11 T C 10: 79,963,782 (GRCm39) probably null Het
Sulf1 G A 1: 12,887,656 (GRCm39) V277I probably benign Het
Svep1 A G 4: 58,096,177 (GRCm39) L1481P probably damaging Het
Syne2 A G 12: 76,033,805 (GRCm39) R3685G probably benign Het
Tmem203 T A 2: 25,146,018 (GRCm39) W113R possibly damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tspan18 T C 2: 93,050,453 (GRCm39) I57V probably benign Het
Vmn2r102 T A 17: 19,914,787 (GRCm39) V784E probably damaging Het
Wrn T C 8: 33,814,548 (GRCm39) T56A probably benign Het
Zfhx4 A T 3: 5,466,269 (GRCm39) K2142N probably damaging Het
Other mutations in Rrm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Rrm2 APN 12 24,761,438 (GRCm39) splice site probably benign
IGL02361:Rrm2 APN 12 24,761,438 (GRCm39) splice site probably benign
IGL02957:Rrm2 APN 12 24,758,440 (GRCm39) missense probably damaging 0.99
R1804:Rrm2 UTSW 12 24,758,611 (GRCm39) missense probably benign 0.42
R1854:Rrm2 UTSW 12 24,763,151 (GRCm39) missense probably damaging 1.00
R3826:Rrm2 UTSW 12 24,758,598 (GRCm39) missense probably benign
R3828:Rrm2 UTSW 12 24,758,598 (GRCm39) missense probably benign
R3830:Rrm2 UTSW 12 24,758,598 (GRCm39) missense probably benign
R3851:Rrm2 UTSW 12 24,758,598 (GRCm39) missense probably benign
R3938:Rrm2 UTSW 12 24,759,431 (GRCm39) missense probably damaging 1.00
R4042:Rrm2 UTSW 12 24,761,450 (GRCm39) missense probably benign 0.00
R4192:Rrm2 UTSW 12 24,758,377 (GRCm39) missense probably benign 0.04
R5274:Rrm2 UTSW 12 24,760,406 (GRCm39) nonsense probably null
R8375:Rrm2 UTSW 12 24,762,751 (GRCm39) missense probably damaging 1.00
R8410:Rrm2 UTSW 12 24,758,622 (GRCm39) missense probably benign
R8505:Rrm2 UTSW 12 24,759,384 (GRCm39) missense probably benign 0.37
R8815:Rrm2 UTSW 12 24,760,470 (GRCm39) missense possibly damaging 0.90
R9716:Rrm2 UTSW 12 24,760,446 (GRCm39) missense probably damaging 1.00
R9765:Rrm2 UTSW 12 24,758,956 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTGGCTGACAAGGAGAACAC -3'
(R):5'- ATCTCGTGTGCTTAGCTGTCAC -3'

Sequencing Primer
(F):5'- AACACGGTGAGGGCGGC -3'
(R):5'- GACCCGAGTAGGACATTCTG -3'
Posted On 2015-04-02