Incidental Mutation 'R3938:Rrm2'
ID 307292
Institutional Source Beutler Lab
Gene Symbol Rrm2
Ensembl Gene ENSMUSG00000020649
Gene Name ribonucleotide reductase M2
Synonyms R2
MMRRC Submission 040825-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3938 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 24758253-24764145 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24759431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 55 (N55K)
Ref Sequence ENSEMBL: ENSMUSP00000119502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020980] [ENSMUST00000153058] [ENSMUST00000154588]
AlphaFold P11157
Predicted Effect probably damaging
Transcript: ENSMUST00000020980
AA Change: N143K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020980
Gene: ENSMUSG00000020649
AA Change: N143K

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 80 347 1.6e-124 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147789
Predicted Effect probably damaging
Transcript: ENSMUST00000153058
AA Change: N112K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120893
Gene: ENSMUSG00000020649
AA Change: N112K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Ribonuc_red_sm 40 225 2.6e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154588
AA Change: N55K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119502
Gene: ENSMUSG00000020649
AA Change: N55K

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 1 181 2.7e-88 PFAM
Meta Mutation Damage Score 0.9152 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 C T 16: 85,592,507 (GRCm39) V634M possibly damaging Het
Arid4b A T 13: 14,361,513 (GRCm39) N659I probably benign Het
BC049715 T C 6: 136,817,453 (GRCm39) I231T possibly damaging Het
Bmp4 T C 14: 46,621,536 (GRCm39) Y336C probably damaging Het
Ccdc30 G A 4: 119,209,870 (GRCm39) T293I probably benign Het
Chd5 A T 4: 152,461,512 (GRCm39) T1275S probably benign Het
Chtf8 A T 8: 107,612,537 (GRCm39) M134K probably benign Het
Col11a2 A T 17: 34,258,599 (GRCm39) probably benign Het
Cyp8b1 A G 9: 121,744,684 (GRCm39) V216A probably benign Het
Dnah8 C T 17: 31,073,911 (GRCm39) T4527M probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Erap1 T A 13: 74,816,147 (GRCm39) L92Q probably damaging Het
Exoc3l G T 8: 106,020,037 (GRCm39) P296H probably damaging Het
Fcgbpl1 C T 7: 27,853,719 (GRCm39) P1561L probably damaging Het
Foxl3 A T 5: 138,806,723 (GRCm39) N78Y probably damaging Het
Hacl1 T C 14: 31,356,148 (GRCm39) probably benign Het
Hrnr T A 3: 93,230,162 (GRCm39) N133K probably benign Het
Itgax G T 7: 127,735,445 (GRCm39) R504S possibly damaging Het
Itgb4 A G 11: 115,896,752 (GRCm39) S1461G possibly damaging Het
Klkb1 G T 8: 45,735,838 (GRCm39) T175K probably damaging Het
Lrrk2 A T 15: 91,596,983 (GRCm39) D525V possibly damaging Het
Lrrk2 C A 15: 91,662,707 (GRCm39) T1912K probably damaging Het
Mdga1 G T 17: 30,076,596 (GRCm39) Q59K probably damaging Het
Mpp4 A G 1: 59,163,842 (GRCm39) V466A possibly damaging Het
Myh6 T C 14: 55,200,512 (GRCm39) D203G probably benign Het
Myo5b T C 18: 74,849,108 (GRCm39) S1116P probably damaging Het
Nemp1 T C 10: 127,531,342 (GRCm39) L311P probably damaging Het
Nup205 A G 6: 35,196,677 (GRCm39) R1138G probably damaging Het
Nup54 A G 5: 92,565,388 (GRCm39) M443T probably damaging Het
Peak1 T C 9: 56,167,649 (GRCm39) E93G probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plekhj1 A G 10: 80,633,609 (GRCm39) I76T probably damaging Het
Poll A G 19: 45,546,857 (GRCm39) probably benign Het
Ppp1r3a A T 6: 14,719,073 (GRCm39) S614T probably damaging Het
Pygm A T 19: 6,442,980 (GRCm39) I556F probably benign Het
Ranbp2 T C 10: 58,312,294 (GRCm39) F1005L probably benign Het
Rcor3 G T 1: 191,785,385 (GRCm39) T361K possibly damaging Het
Robo4 A G 9: 37,313,313 (GRCm39) probably benign Het
Rps15 T C 10: 80,129,673 (GRCm39) V96A probably benign Het
Shank2 T C 7: 143,682,112 (GRCm39) Y382H probably benign Het
Slc25a10 G T 11: 120,382,819 (GRCm39) E3* probably null Het
Slc7a8 T A 14: 54,973,298 (GRCm39) E223V probably benign Het
Snx13 A G 12: 35,194,096 (GRCm39) K880E probably benign Het
Spinkl T G 18: 44,301,216 (GRCm39) M41L probably benign Het
Srp54a A C 12: 55,136,042 (GRCm39) N19T probably benign Het
Sun2 T C 15: 79,618,356 (GRCm39) K268E probably benign Het
Sytl1 G A 4: 132,982,935 (GRCm39) Q359* probably null Het
Tlr6 A T 5: 65,110,938 (GRCm39) F656L probably damaging Het
Tmem185a C T X: 69,505,792 (GRCm39) probably null Het
Tmem45a2 C T 16: 56,859,398 (GRCm39) D278N probably benign Het
Trav7-1 T C 14: 52,892,791 (GRCm39) probably benign Het
Trpc2 T A 7: 101,742,781 (GRCm39) M597K probably damaging Het
Ttc21a A G 9: 119,779,882 (GRCm39) probably benign Het
Usp9y C T Y: 1,313,741 (GRCm39) M2188I probably damaging Het
Utrn C A 10: 12,625,774 (GRCm39) probably null Het
Vmn1r35 T A 6: 66,656,057 (GRCm39) R204S probably damaging Het
Zfp955b T A 17: 33,524,390 (GRCm39) Y59F 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
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
R3851:Rrm2 UTSW 12 24,758,598 (GRCm39) missense probably benign
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'- AGCTCACTGAGATATTGGGTG -3'
(R):5'- AACAGAACCTGGGTCTTCCG -3'

Sequencing Primer
(F):5'- AAGAATTCGGTAATGAGATGGTTTG -3'
(R):5'- GCCCAAGCAGGAAGTGTGTTAAC -3'
Posted On 2015-04-17