Incidental Mutation 'IGL00581:Rrm2b'
ID 13871
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: 0.599) question?
Stock # IGL00581
Quality Score
Status
Chromosome 15
Chromosomal Location 37924196-37961562 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37929319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 77 (V77A)
Ref Sequence ENSEMBL: ENSMUSP00000123691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022901] [ENSMUST00000137636] [ENSMUST00000144498] [ENSMUST00000146821] [ENSMUST00000153481]
AlphaFold Q6PEE3
Predicted Effect probably damaging
Transcript: ENSMUST00000022901
AA Change: V289A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022901
Gene: ENSMUSG00000022292
AA Change: V289A

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 41 308 4.2e-120 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137636
AA Change: V237A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119400
Gene: ENSMUSG00000022292
AA Change: V237A

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 damaging
Transcript: ENSMUST00000146821
AA Change: V77A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123691
Gene: ENSMUSG00000022292
AA Change: V77A

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: 9 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb A T 7: 131,039,225 (GRCm39) probably benign Het
Arid4b C T 13: 14,334,780 (GRCm39) R330W probably damaging Het
Depdc1a T A 3: 159,232,189 (GRCm39) C370S probably benign Het
Gan C T 8: 117,920,063 (GRCm39) T353M probably damaging Het
Kif28 A T 1: 179,567,522 (GRCm39) S83T probably benign Het
Rps27l A T 9: 66,854,207 (GRCm39) D34V possibly damaging Het
Scap T C 9: 110,205,699 (GRCm39) V369A probably damaging Het
Tmeff2 A T 1: 51,224,609 (GRCm39) N365I probably damaging Het
Zfp142 T C 1: 74,606,131 (GRCm39) D1612G probably damaging Het
Other mutations in Rrm2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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