Incidental Mutation 'R1228:Rpia'
ID 175030
Institutional Source Beutler Lab
Gene Symbol Rpia
Ensembl Gene ENSMUSG00000053604
Gene Name ribose 5-phosphate isomerase A
Synonyms
MMRRC Submission 039297-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1228 (G1)
Quality Score 90
Status Not validated
Chromosome 6
Chromosomal Location 70742704-70769159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70768880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 85 (N85S)
Ref Sequence ENSEMBL: ENSMUSP00000064158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066134]
AlphaFold P47968
Predicted Effect probably benign
Transcript: ENSMUST00000066134
AA Change: N85S

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000064158
Gene: ENSMUSG00000053604
AA Change: N85S

DomainStartEndE-ValueType
low complexity region 16 38 N/A INTRINSIC
low complexity region 56 66 N/A INTRINSIC
Pfam:Rib_5-P_isom_A 120 294 7.3e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129244
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bag6 T A 17: 35,364,309 (GRCm39) S863R probably damaging Het
Ccdc181 C T 1: 164,113,960 (GRCm39) R455* probably null Het
Clvs2 T C 10: 33,498,600 (GRCm39) N110S probably benign Het
Enpp1 T A 10: 24,521,310 (GRCm39) I806F probably benign Het
Entrep1 A G 19: 23,956,829 (GRCm39) S355P probably benign Het
Fli1 T C 9: 32,335,139 (GRCm39) Y431C probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Klhl25 C T 7: 75,515,868 (GRCm39) A258V probably benign Het
Krt13 T C 11: 100,012,303 (GRCm39) S7G probably benign Het
Pakap T A 4: 57,856,909 (GRCm39) I787N probably damaging Het
Pappa T C 4: 65,258,926 (GRCm39) F1558S probably damaging Het
Phc3 A T 3: 30,976,404 (GRCm39) N721K possibly damaging Het
Plxna4 A T 6: 32,201,087 (GRCm39) probably null Het
Rabac1 T C 7: 24,671,523 (GRCm39) probably null Het
Rims1 T C 1: 22,511,837 (GRCm39) D572G probably null Het
Sh3gl3 A G 7: 81,824,723 (GRCm39) M1V probably null Het
Skint6 T C 4: 112,711,649 (GRCm39) N956S probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Sp110 G A 1: 85,519,481 (GRCm39) P116S probably benign Het
Spata7 T C 12: 98,600,528 (GRCm39) L47P probably damaging Het
Tcea2 G T 2: 181,326,238 (GRCm39) V81F probably benign Het
Ttbk1 A T 17: 46,787,638 (GRCm39) probably null Het
Vmn2r77 G A 7: 86,450,242 (GRCm39) probably null Het
Other mutations in Rpia
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Rpia APN 6 70,752,086 (GRCm39) splice site probably benign
R4629:Rpia UTSW 6 70,743,578 (GRCm39) missense possibly damaging 0.46
R5249:Rpia UTSW 6 70,760,563 (GRCm39) nonsense probably null
R6302:Rpia UTSW 6 70,750,485 (GRCm39) missense probably damaging 0.96
R6772:Rpia UTSW 6 70,762,532 (GRCm39) missense probably benign 0.08
R6932:Rpia UTSW 6 70,750,424 (GRCm39) missense probably benign 0.00
R7718:Rpia UTSW 6 70,743,602 (GRCm39) missense probably damaging 1.00
R8282:Rpia UTSW 6 70,748,002 (GRCm39) missense possibly damaging 0.78
R8517:Rpia UTSW 6 70,743,630 (GRCm39) missense possibly damaging 0.74
R9507:Rpia UTSW 6 70,754,377 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAAGAGTTGACACCCACCCATTCG -3'
(R):5'- TCGCCGTAGGACTACATTTCCCAG -3'

Sequencing Primer
(F):5'- ACCCATTCGGGGTCTAGAAG -3'
(R):5'- TTTCCCAGCAACACGCATTTAG -3'
Posted On 2014-04-24