Incidental Mutation 'R6772:Rpia'
ID 532208
Institutional Source Beutler Lab
Gene Symbol Rpia
Ensembl Gene ENSMUSG00000053604
Gene Name ribose 5-phosphate isomerase A
Synonyms
MMRRC Submission 044888-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6772 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 70742704-70769159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70762532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 108 (I108V)
Ref Sequence ENSEMBL: ENSMUSP00000064158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066134]
AlphaFold P47968
Predicted Effect probably benign
Transcript: ENSMUST00000066134
AA Change: I108V

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000064158
Gene: ENSMUSG00000053604
AA Change: I108V

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
Meta Mutation Damage Score 0.0752 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency 97% (36/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,126,276 (GRCm39) D1144V probably damaging Het
Ankrd13a A G 5: 114,939,804 (GRCm39) H477R probably benign Het
Anxa3 A T 5: 96,958,972 (GRCm39) I27F probably damaging Het
Aplf T C 6: 87,640,781 (GRCm39) E76G possibly damaging Het
Bbs1 A G 19: 4,956,618 (GRCm39) probably benign Het
Camk2a T C 18: 61,102,092 (GRCm39) S332P probably benign Het
Casz1 T A 4: 149,027,663 (GRCm39) F1013L probably damaging Het
Cd109 A T 9: 78,588,092 (GRCm39) I707F possibly damaging Het
Cd4 G A 6: 124,849,421 (GRCm39) T202I probably benign Het
Celsr1 A G 15: 85,914,983 (GRCm39) S997P probably benign Het
Cfap77 T C 2: 28,944,951 (GRCm39) T24A probably damaging Het
Dscaml1 G A 9: 45,621,609 (GRCm39) R1019H probably damaging Het
Epb41l4b C A 4: 57,063,140 (GRCm39) V517F probably benign Het
Exosc10 G A 4: 148,665,591 (GRCm39) D818N probably damaging Het
Furin C T 7: 80,043,240 (GRCm39) G324S probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ifi206 T C 1: 173,308,773 (GRCm39) M408V unknown Het
Kdm4a T C 4: 117,999,752 (GRCm39) probably null Het
Neo1 T A 9: 58,810,259 (GRCm39) Q1064L probably damaging Het
Nphp4 G A 4: 152,628,863 (GRCm39) V750I probably benign Het
Pcdhac1 T C 18: 37,223,289 (GRCm39) V34A probably benign Het
Pdk4 T C 6: 5,487,141 (GRCm39) I302V probably benign Het
Prl6a1 A G 13: 27,503,031 (GRCm39) D209G probably damaging Het
Pspn T C 17: 57,306,515 (GRCm39) Q138R probably benign Het
Ptgs2 A G 1: 149,977,829 (GRCm39) Y134C probably damaging Het
Rlbp1 G A 7: 79,033,798 (GRCm39) probably benign Het
Tcaf1 A T 6: 42,652,210 (GRCm39) H757Q probably damaging Het
Ttc8 A C 12: 98,909,848 (GRCm39) S143R probably damaging Het
Uba6 A G 5: 86,294,932 (GRCm39) probably benign Het
Ubr4 A T 4: 139,194,541 (GRCm39) K4280* probably null Het
Vmn2r15 C A 5: 109,434,238 (GRCm39) S822I probably damaging Het
Vps53 A T 11: 76,070,324 (GRCm39) M1K probably null Het
Zfp362 A G 4: 128,684,053 (GRCm39) M18T possibly damaging Het
Zfp429 A G 13: 67,538,317 (GRCm39) C376R probably damaging Het
Zfyve9 T C 4: 108,496,466 (GRCm39) N1395S probably damaging Het
Zmynd8 T A 2: 165,649,521 (GRCm39) Q857H probably benign Het
Other mutations in Rpia
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Rpia APN 6 70,752,086 (GRCm39) splice site probably benign
R1228:Rpia UTSW 6 70,768,880 (GRCm39) missense probably benign 0.10
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
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'- TGGACCGAAATCCTCTTTCCTAAG -3'
(R):5'- TAAAGTAGGTACCCGCCTTGC -3'

Sequencing Primer
(F):5'- TCTTTCCTAAGAGCAGAAACCCTCAG -3'
(R):5'- CACCTGTGCTATGAACTGTTG -3'
Posted On 2018-08-29