Incidental Mutation 'R1152:Prps1'
ID 101628
Institutional Source Beutler Lab
Gene Symbol Prps1
Ensembl Gene ENSMUSG00000031432
Gene Name phosphoribosyl pyrophosphate synthetase 1
Synonyms Prps-1, 2310010D17Rik
MMRRC Submission 039225-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1152 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 139357362-139376889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 139369656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 160 (S160A)
Ref Sequence ENSEMBL: ENSMUSP00000033809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033809]
AlphaFold Q9D7G0
Predicted Effect probably benign
Transcript: ENSMUST00000033809
AA Change: S160A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033809
Gene: ENSMUSG00000031432
AA Change: S160A

DomainStartEndE-ValueType
Pfam:Pribosyltran_N 4 120 1.1e-50 PFAM
Pfam:Pribosyltran 139 274 2.4e-15 PFAM
Pfam:Pribosyl_synth 200 314 1.9e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155235
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Arhgap28 C A 17: 68,164,459 (GRCm39) Q554H probably damaging Het
Brd2 ATCTTCTTC ATCTTC 17: 34,332,981 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Ntrk1 C T 3: 87,685,900 (GRCm39) E741K probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Triobp G A 15: 78,850,679 (GRCm39) A278T probably benign Het
Other mutations in Prps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1149:Prps1 UTSW X 139,369,656 (GRCm39) missense probably benign
R1149:Prps1 UTSW X 139,369,656 (GRCm39) missense probably benign
R1151:Prps1 UTSW X 139,369,656 (GRCm39) missense probably benign
R2872:Prps1 UTSW X 139,372,743 (GRCm39) splice site probably benign
R2874:Prps1 UTSW X 139,372,743 (GRCm39) splice site probably benign
Predicted Primers
Posted On 2014-01-15