Incidental Mutation 'IGL00806:Rrm2b'
ID 13872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrm2b
Ensembl Gene ENSMUSG00000022292
Gene Name ribonucleotide reductase M2 B (TP53 inducible)
Synonyms p53R2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.571) question?
Stock # IGL00806
Quality Score
Status
Chromosome 15
Chromosomal Location 37924196-37961562 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37931866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 45 (D45N)
Ref Sequence ENSEMBL: ENSMUSP00000123691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022901] [ENSMUST00000137636] [ENSMUST00000144498] [ENSMUST00000146821] [ENSMUST00000153481]
AlphaFold Q6PEE3
Predicted Effect probably benign
Transcript: ENSMUST00000022901
AA Change: D257N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022901
Gene: ENSMUSG00000022292
AA Change: D257N

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 41 308 4.2e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137636
AA Change: D205N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000119400
Gene: ENSMUSG00000022292
AA Change: D205N

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 benign
Transcript: ENSMUST00000146821
AA Change: D45N

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000123691
Gene: ENSMUSG00000022292
AA Change: D45N

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 13 101 1e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153481
Coding Region Coverage
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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b A C 8: 43,974,379 (GRCm39) Y208D probably damaging Het
Birc6 T A 17: 74,918,524 (GRCm39) V18D possibly damaging Het
Copb2 T C 9: 98,452,717 (GRCm39) C104R probably damaging Het
Eif2ak4 A G 2: 118,271,647 (GRCm39) E76G probably benign Het
Flrt2 T C 12: 95,747,303 (GRCm39) I547T probably damaging Het
Golga1 A T 2: 38,942,985 (GRCm39) L95* probably null Het
Itga8 G A 2: 12,260,777 (GRCm39) Q224* probably null Het
Kcnt2 T C 1: 140,450,949 (GRCm39) Y693H probably damaging Het
Kctd4 A T 14: 76,200,448 (GRCm39) T140S probably benign Het
Lpl T C 8: 69,355,018 (GRCm39) S469P probably benign Het
Naf1 A G 8: 67,338,452 (GRCm39) Q406R probably damaging Het
Pdgfd A G 9: 6,288,667 (GRCm39) D107G probably benign Het
Rell1 T C 5: 64,095,157 (GRCm39) E103G probably damaging Het
Setx A G 2: 29,017,038 (GRCm39) Y47C probably damaging Het
Snx1 A T 9: 65,996,867 (GRCm39) Y462* probably null Het
Tek A T 4: 94,686,956 (GRCm39) N158I probably damaging Het
Other mutations in Rrm2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00581:Rrm2b APN 15 37,929,319 (GRCm39) missense probably damaging 1.00
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
R1692:Rrm2b UTSW 15 37,927,566 (GRCm39) nonsense probably null
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
Posted On 2012-12-06