Incidental Mutation 'R3851:Rrm2'
ID 275933
Institutional Source Beutler Lab
Gene Symbol Rrm2
Ensembl Gene ENSMUSG00000020649
Gene Name ribonucleotide reductase M2
Synonyms R2
MMRRC Submission 040899-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3851 (G1)
Quality Score 225
Status 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: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (36/36)
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
Arap1 G A 7: 101,039,372 (GRCm39) W544* probably null Het
AY358078 A G 14: 52,043,010 (GRCm39) T233A unknown Het
Bcl9 G A 3: 97,116,969 (GRCm39) P575L probably damaging Het
Calcr T C 6: 3,693,735 (GRCm39) Y353C probably damaging Het
Cry1 C A 10: 84,982,363 (GRCm39) A328S probably benign Het
Dclre1a A T 19: 56,529,939 (GRCm39) N799K probably damaging Het
Dnm3 A T 1: 162,148,696 (GRCm39) probably null Het
Dock9 A T 14: 121,866,498 (GRCm39) probably null Het
Dpysl4 C T 7: 138,680,851 (GRCm39) T575M probably damaging Het
Drc7 C T 8: 95,788,464 (GRCm39) Q276* probably null Het
Dzip3 T C 16: 48,770,376 (GRCm39) T389A possibly damaging Het
Flnc T A 6: 29,453,718 (GRCm39) L1801Q probably damaging Het
Fmo9 A G 1: 166,490,936 (GRCm39) L463P probably benign Het
Fnip2 G C 3: 79,369,464 (GRCm39) H1074D probably damaging Het
Golga2 A G 2: 32,195,623 (GRCm39) E806G probably benign Het
H2-Q5 T A 17: 35,613,115 (GRCm39) M5K unknown Het
Il27ra C T 8: 84,767,317 (GRCm39) E169K probably benign Het
Insyn2a A G 7: 134,486,255 (GRCm39) V432A probably benign Het
Itpkc A T 7: 26,927,037 (GRCm39) N292K probably benign Het
Lhfpl3 G A 5: 22,980,985 (GRCm39) probably benign Het
Map4k3 A G 17: 80,951,752 (GRCm39) probably benign Het
Mas1 C G 17: 13,060,880 (GRCm39) S181T probably benign Het
Ntn1 C G 11: 68,276,619 (GRCm39) D110H probably damaging Het
Nubpl T C 12: 52,190,810 (GRCm39) M65T probably damaging Het
Or6c76b A C 10: 129,693,016 (GRCm39) M210L probably benign Het
Parp14 A G 16: 35,674,118 (GRCm39) I1042T possibly damaging Het
Pcdh15 C A 10: 74,467,518 (GRCm39) S1779Y probably damaging Het
Pgm5 C T 19: 24,797,567 (GRCm39) R205Q probably damaging Het
Radil T C 5: 142,492,752 (GRCm39) D292G probably damaging Het
Rbp3 C A 14: 33,677,464 (GRCm39) H471N probably damaging Het
Rgs14 T A 13: 55,527,427 (GRCm39) L221Q possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slco4a1 C T 2: 180,105,884 (GRCm39) T22M probably benign Het
Sult2b1 G T 7: 45,379,461 (GRCm39) probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Ttn G T 2: 76,581,678 (GRCm39) L23072I possibly damaging Het
Zfp521 T C 18: 13,850,808 (GRCm39) probably benign 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
R3827: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
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'- TCGTGTGCTTAGCTGTCACG -3'

Sequencing Primer
(F):5'- AACACGGTGAGGGCGGC -3'
(R):5'- GACCCGAGTAGGACATTCTG -3'
Posted On 2015-04-06