Incidental Mutation 'R1692:Rrm2b'
ID 191892
Institutional Source Beutler Lab
Gene Symbol Rrm2b
Ensembl Gene ENSMUSG00000022292
Gene Name ribonucleotide reductase M2 B (TP53 inducible)
Synonyms p53R2
MMRRC Submission 039725-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.599) question?
Stock # R1692 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 37924196-37961562 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 37927566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 115 (R115*)
Ref Sequence ENSEMBL: ENSMUSP00000123691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022901] [ENSMUST00000137636] [ENSMUST00000144498] [ENSMUST00000146821] [ENSMUST00000153481]
AlphaFold Q6PEE3
Predicted Effect probably null
Transcript: ENSMUST00000022901
AA Change: R327*
SMART Domains Protein: ENSMUSP00000022901
Gene: ENSMUSG00000022292
AA Change: R327*

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 41 308 4.2e-120 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000137636
AA Change: R275*
SMART Domains Protein: ENSMUSP00000119400
Gene: ENSMUSG00000022292
AA Change: R275*

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 6 261 1.7e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144498
SMART Domains Protein: ENSMUSP00000121069
Gene: ENSMUSG00000022292

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 32 111 2.2e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000146821
AA Change: R115*
SMART Domains Protein: ENSMUSP00000123691
Gene: ENSMUSG00000022292
AA Change: R115*

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 13 101 1e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153481
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
PHENOTYPE: Loss of both functional copies of this gene results in growth retardation, multiple organ failure, and ultimately premature death due to kidney failure. Spontaneous mutation rates and apoptosis are increased in the kidneys due to an attenuation of dNTP pools and a resulting impairment of DNA repair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 A T 7: 133,489,673 (GRCm39) *582R probably null Het
Agfg2 A G 5: 137,662,633 (GRCm39) Y145H probably damaging Het
Aldh1a1 C T 19: 20,608,182 (GRCm39) P335S probably damaging Het
Amotl1 T C 9: 14,463,018 (GRCm39) R732G possibly damaging Het
Ankef1 A T 2: 136,392,346 (GRCm39) I512F probably benign Het
Atg9a A T 1: 75,166,999 (GRCm39) D17E probably benign Het
Atpsckmt T C 15: 31,602,297 (GRCm39) probably null Het
Brd8 A T 18: 34,742,886 (GRCm39) S253R probably damaging Het
Ccnq T C 11: 78,642,157 (GRCm39) E111G probably benign Het
Cd79a T A 7: 24,600,881 (GRCm39) M192K probably damaging Het
Clcn1 T G 6: 42,290,032 (GRCm39) F822L possibly damaging Het
Dnajb12 A G 10: 59,732,199 (GRCm39) Y346C probably damaging Het
Erbb3 A G 10: 128,407,594 (GRCm39) I918T probably benign Het
Fbxw20 G T 9: 109,050,777 (GRCm39) T377K possibly damaging Het
Fry A G 5: 150,293,692 (GRCm39) I462V probably damaging Het
Gmip A G 8: 70,266,553 (GRCm39) N251S probably benign Het
Gpx1 A G 9: 108,216,674 (GRCm39) T55A possibly damaging Het
Hmcn2 T C 2: 31,340,856 (GRCm39) V4443A possibly damaging Het
Kdm4d A T 9: 14,375,807 (GRCm39) I17K probably benign Het
Lamc3 A G 2: 31,811,793 (GRCm39) S927G probably null Het
Map7d1 G A 4: 126,136,101 (GRCm39) P36S probably damaging Het
Mfsd13a C A 19: 46,360,515 (GRCm39) H356N probably benign Het
Mtap C T 4: 89,095,151 (GRCm39) R268C probably benign Het
Myo1a C T 10: 127,555,203 (GRCm39) probably null Het
Myom3 T C 4: 135,502,862 (GRCm39) L313P probably benign Het
Nrxn2 T A 19: 6,569,298 (GRCm39) V1391E probably damaging Het
Otoa A C 7: 120,690,774 (GRCm39) Q3P probably damaging Het
Phldb1 T C 9: 44,626,717 (GRCm39) E576G probably damaging Het
Pigw A C 11: 84,767,892 (GRCm39) L479R probably damaging Het
Pip5k1a A G 3: 94,971,041 (GRCm39) I507T probably benign Het
Ppp4r3b T A 11: 29,138,123 (GRCm39) I157N probably benign Het
Sall1 C T 8: 89,755,028 (GRCm39) S1317N probably benign Het
Serpinb6b T G 13: 33,158,978 (GRCm39) F179V probably damaging Het
Slc4a8 T A 15: 100,698,454 (GRCm39) F648I probably damaging Het
Slc5a7 T C 17: 54,588,754 (GRCm39) T298A probably damaging Het
Slit3 T C 11: 35,550,171 (GRCm39) L830P probably damaging Het
Smarcc1 T A 9: 110,003,072 (GRCm39) N387K possibly damaging Het
Tanc2 C T 11: 105,748,326 (GRCm39) T486I probably benign Het
Tdp1 C T 12: 99,921,260 (GRCm39) P599S probably damaging Het
Tmem33 A G 5: 67,425,897 (GRCm39) D38G probably null Het
Uvrag C T 7: 98,653,870 (GRCm39) R247Q probably benign Het
Vars1 T C 17: 35,232,701 (GRCm39) V875A probably damaging Het
Vcl A G 14: 21,074,250 (GRCm39) E879G probably damaging Het
Vmn1r231 C T 17: 21,110,871 (GRCm39) V15I probably benign Het
Zfp609 T C 9: 65,702,593 (GRCm39) T20A probably damaging Het
Zfp747l1 G T 7: 126,983,652 (GRCm39) H483Q possibly damaging Het
Zfp959 T A 17: 56,205,299 (GRCm39) H445Q probably damaging Het
Zmiz2 T A 11: 6,350,795 (GRCm39) V515E probably damaging Het
Zmym5 G A 14: 57,041,650 (GRCm39) T151M probably damaging Het
Zxdc C T 6: 90,355,933 (GRCm39) Q481* probably null Het
Other mutations in Rrm2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00581:Rrm2b APN 15 37,929,319 (GRCm39) missense probably damaging 1.00
IGL00806:Rrm2b APN 15 37,931,866 (GRCm39) missense probably benign 0.02
IGL01145:Rrm2b APN 15 37,944,804 (GRCm39) missense probably damaging 0.96
norfolk UTSW 15 37,937,595 (GRCm39) critical splice acceptor site probably null
rememberance UTSW 15 37,947,044 (GRCm39) missense possibly damaging 0.65
PIT4515001:Rrm2b UTSW 15 37,947,048 (GRCm39) missense probably benign
R0026:Rrm2b UTSW 15 37,953,985 (GRCm39) missense probably benign 0.19
R0044:Rrm2b UTSW 15 37,953,932 (GRCm39) missense possibly damaging 0.83
R0044:Rrm2b UTSW 15 37,953,932 (GRCm39) missense possibly damaging 0.83
R0624:Rrm2b UTSW 15 37,931,889 (GRCm39) missense probably benign 0.00
R1371:Rrm2b UTSW 15 37,947,053 (GRCm39) missense probably benign 0.06
R1635:Rrm2b UTSW 15 37,945,328 (GRCm39) missense probably damaging 1.00
R1710:Rrm2b UTSW 15 37,929,340 (GRCm39) missense probably damaging 1.00
R2273:Rrm2b UTSW 15 37,945,295 (GRCm39) missense possibly damaging 0.92
R3196:Rrm2b UTSW 15 37,945,391 (GRCm39) splice site probably null
R4459:Rrm2b UTSW 15 37,945,397 (GRCm39) splice site probably null
R5310:Rrm2b UTSW 15 37,927,571 (GRCm39) missense probably damaging 1.00
R5747:Rrm2b UTSW 15 37,927,634 (GRCm39) missense probably benign
R7343:Rrm2b UTSW 15 37,944,817 (GRCm39) missense probably benign 0.18
R7378:Rrm2b UTSW 15 37,931,891 (GRCm39) missense probably benign
R7539:Rrm2b UTSW 15 37,937,595 (GRCm39) critical splice acceptor site probably null
R7797:Rrm2b UTSW 15 37,927,505 (GRCm39) nonsense probably null
R8077:Rrm2b UTSW 15 37,947,044 (GRCm39) missense possibly damaging 0.65
R8856:Rrm2b UTSW 15 37,960,858 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- ACCAACAACAGGTTTCCATGTGTTTTG -3'
(R):5'- AGTGGAGTCCTGCCCTCTGG -3'

Sequencing Primer
(F):5'- catcctcaaacccagagatcc -3'
(R):5'- CTGGGTTTTGCCATTTTGCC -3'
Posted On 2014-05-14