Incidental Mutation 'R0044:Rrm2b'
ID 32908
Institutional Source Beutler Lab
Gene Symbol Rrm2b
Ensembl Gene ENSMUSG00000022292
Gene Name ribonucleotide reductase M2 B (TP53 inducible)
Synonyms p53R2
MMRRC Submission 038338-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.599) question?
Stock # R0044 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 15
Chromosomal Location 37924196-37961562 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37953932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 39 (S39P)
Ref Sequence ENSEMBL: ENSMUSP00000121188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022901] [ENSMUST00000137636] [ENSMUST00000144498] [ENSMUST00000145155] [ENSMUST00000145175] [ENSMUST00000153481] [ENSMUST00000146821]
AlphaFold Q6PEE3
Predicted Effect probably benign
Transcript: ENSMUST00000022901
AA Change: S39P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022901
Gene: ENSMUSG00000022292
AA Change: S39P

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 41 308 4.2e-120 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127362
Predicted Effect probably benign
Transcript: ENSMUST00000137636
SMART Domains Protein: ENSMUSP00000119400
Gene: ENSMUSG00000022292

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 6 261 1.7e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144498
AA Change: S39P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121069
Gene: ENSMUSG00000022292
AA Change: S39P

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 32 111 2.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145155
Predicted Effect probably benign
Transcript: ENSMUST00000145175
AA Change: S25P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114343
Gene: ENSMUSG00000022292
AA Change: S25P

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 18 99 1.5e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000153481
AA Change: S39P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000146821
SMART Domains Protein: ENSMUSP00000123691
Gene: ENSMUSG00000022292

DomainStartEndE-ValueType
Pfam:Ribonuc_red_sm 13 101 1e-31 PFAM
Meta Mutation Damage Score 0.0603 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 100% (77/77)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430571L13Rik A C 9: 107,219,698 (GRCm39) R50S probably damaging Het
Actn2 G T 13: 12,290,013 (GRCm39) T176N possibly damaging Het
Adamts7 T C 9: 90,053,641 (GRCm39) V62A possibly damaging Het
Adcy2 A G 13: 68,876,018 (GRCm39) S495P possibly damaging Het
Agbl3 A T 6: 34,776,834 (GRCm39) M447L probably damaging Het
Asxl1 C T 2: 153,242,129 (GRCm39) T893I probably benign Het
Atp11b T A 3: 35,866,401 (GRCm39) I400N probably damaging Het
Bpifb2 C T 2: 153,724,599 (GRCm39) probably benign Het
Capn1 T A 19: 6,064,373 (GRCm39) Y42F probably benign Het
Cdk5rap2 A T 4: 70,279,138 (GRCm39) L190H probably damaging Het
Cfap54 T C 10: 92,871,295 (GRCm39) I594V probably null Het
Cpsf1 A G 15: 76,483,753 (GRCm39) V830A probably benign Het
Cyp2c70 T A 19: 40,153,815 (GRCm39) N258I possibly damaging Het
Dctn1 T G 6: 83,168,116 (GRCm39) Y386D probably damaging Het
Degs2 T C 12: 108,658,413 (GRCm39) N189D probably damaging Het
Dido1 C T 2: 180,303,612 (GRCm39) A1431T probably damaging Het
Diras1 G T 10: 80,857,972 (GRCm39) S93* probably null Het
E130308A19Rik T A 4: 59,690,290 (GRCm39) H41Q possibly damaging Het
Ebf2 C T 14: 67,548,417 (GRCm39) probably benign Het
Fcho2 A G 13: 98,892,052 (GRCm39) probably benign Het
Gbe1 T A 16: 70,358,020 (GRCm39) Y681* probably null Het
Gm10036 A C 18: 15,965,873 (GRCm39) K8T probably benign Het
Herc1 T A 9: 66,355,457 (GRCm39) M2236K probably benign Het
Hmcn2 A T 2: 31,302,520 (GRCm39) Y2948F probably damaging Het
Jakmip2 A T 18: 43,715,170 (GRCm39) C119S probably benign Het
Kif1b A G 4: 149,348,058 (GRCm39) probably benign Het
Kif6 T C 17: 50,139,284 (GRCm39) probably benign Het
Lpin1 A T 12: 16,618,530 (GRCm39) probably benign Het
Lrp2 T C 2: 69,357,899 (GRCm39) I377V probably benign Het
Mavs C A 2: 131,083,944 (GRCm39) T147N probably damaging Het
Mcoln2 C T 3: 145,889,316 (GRCm39) T374M probably damaging Het
Mreg T G 1: 72,201,534 (GRCm39) T153P probably damaging Het
Naglu T C 11: 100,962,043 (GRCm39) I172T probably damaging Het
Odad4 A T 11: 100,457,827 (GRCm39) I477F probably damaging Het
Ogdhl T C 14: 32,061,285 (GRCm39) V492A possibly damaging Het
Or4a72 A G 2: 89,405,974 (GRCm39) I32T possibly damaging Het
Parvg A G 15: 84,222,083 (GRCm39) E323G probably benign Het
Pgap1 A G 1: 54,532,527 (GRCm39) L664S probably damaging Het
Pgm2l1 A G 7: 99,899,539 (GRCm39) N51S probably benign Het
Pik3r6 A G 11: 68,435,576 (GRCm39) T609A probably benign Het
Plcb4 T A 2: 135,813,776 (GRCm39) V705E probably damaging Het
Plppr5 T A 3: 117,465,538 (GRCm39) probably null Het
Prkg2 C A 5: 99,120,989 (GRCm39) D411Y probably damaging Het
Ptprd A G 4: 76,004,566 (GRCm39) V63A probably benign Het
Ptprz1 T A 6: 23,007,402 (GRCm39) I1655N probably damaging Het
Raf1 T A 6: 115,600,476 (GRCm39) D10V probably benign Het
Rexo1 T A 10: 80,380,212 (GRCm39) Q928L probably benign Het
Rpl7l1 A C 17: 47,089,456 (GRCm39) probably null Het
Scn5a A G 9: 119,321,113 (GRCm39) probably null Het
Sgtb A G 13: 104,265,768 (GRCm39) T93A probably benign Het
Sigirr G T 7: 140,672,226 (GRCm39) probably null Het
Slc16a7 T C 10: 125,063,951 (GRCm39) D462G probably benign Het
Slc25a30 C T 14: 76,007,089 (GRCm39) A85T probably benign Het
Spata24 A G 18: 35,789,887 (GRCm39) S167P probably damaging Het
Spock3 C T 8: 63,597,041 (GRCm39) T115I possibly damaging Het
Srgap2 A G 1: 131,247,289 (GRCm39) I581T possibly damaging Het
Syn2 A T 6: 115,112,108 (GRCm39) M23L unknown Het
Synrg G A 11: 83,900,007 (GRCm39) V839I probably damaging Het
Tmtc1 A G 6: 148,314,327 (GRCm39) probably benign Het
Tnfaip3 C A 10: 18,887,374 (GRCm39) M50I probably damaging Het
Topbp1 T A 9: 103,202,972 (GRCm39) I721N possibly damaging Het
Ttc22 T G 4: 106,494,003 (GRCm39) V321G probably benign Het
Ubr2 A G 17: 47,303,911 (GRCm39) probably benign Het
Ubr4 T C 4: 139,164,369 (GRCm39) probably benign Het
Usp24 T C 4: 106,269,281 (GRCm39) probably benign Het
Vmn2r100 A T 17: 19,742,441 (GRCm39) I272L possibly damaging Het
Vrtn T A 12: 84,695,379 (GRCm39) L43H probably damaging Het
Wnk1 G T 6: 120,014,110 (GRCm39) R162S probably damaging Het
Xkr9 G A 1: 13,754,286 (GRCm39) W93* probably null Het
Zfp804b G T 5: 6,819,655 (GRCm39) P1136H probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCTGGCAGAATAGCTTGTCATGTTCTTG -3'
(R):5'- CTGAAGGGATTCTATACATCATGCCGC -3'

Sequencing Primer
(F):5'- TTACAGATGCtaacctaattatgctc -3'
(R):5'- ATACATCATGCCGCGTCCC -3'
Posted On 2013-05-09