Incidental Mutation 'R3420:Prps2'
ID 267024
Institutional Source Beutler Lab
Gene Symbol Prps2
Ensembl Gene ENSMUSG00000025742
Gene Name phosphoribosyl pyrophosphate synthetase 2
Synonyms 2610101M19Rik, Prps-2
MMRRC Submission 040638-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.397) question?
Stock # R3420 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 166129318-166165745 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 166165504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026839]
AlphaFold Q9CS42
Predicted Effect probably null
Transcript: ENSMUST00000026839
SMART Domains Protein: ENSMUSP00000026839
Gene: ENSMUSG00000025742

DomainStartEndE-ValueType
Pfam:Pribosyltran_N 4 120 1.5e-48 PFAM
Pfam:Pribosyltran 142 279 2.4e-15 PFAM
Pfam:Pribosyl_synth 200 314 4e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145456
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Males hemizygous for a null allele show altered B cell physiology with a minor decrease in rates of purine nucleotide biosynthesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A G 6: 34,770,900 (GRCm39) T132A probably benign Het
Amn1 A T 6: 149,070,950 (GRCm39) L196* probably null Het
Ccdc73 A T 2: 104,782,292 (GRCm39) K216M probably null Het
Ccdc73 G A 2: 104,782,293 (GRCm39) probably null Het
Celsr2 A G 3: 108,321,732 (GRCm39) V360A probably benign Het
Ckap5 T A 2: 91,400,597 (GRCm39) W650R probably damaging Het
Cyp2b9 G A 7: 25,909,528 (GRCm39) G432E probably damaging Het
Dclre1b A G 3: 103,715,412 (GRCm39) Y29H probably damaging Het
Enthd1 T C 15: 80,444,225 (GRCm39) D110G probably damaging Het
Grin1 C T 2: 25,193,926 (GRCm39) G390D probably damaging Het
Hoxc6 T A 15: 102,919,327 (GRCm39) W188R probably damaging Het
Kcnip1 A G 11: 33,595,594 (GRCm39) V43A probably damaging Het
Kifap3 T A 1: 163,621,595 (GRCm39) I81N probably damaging Het
Klb G A 5: 65,529,485 (GRCm39) G338S probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nuak2 A G 1: 132,259,818 (GRCm39) D532G probably benign Het
Or8d1 A G 9: 38,766,621 (GRCm39) K88E possibly damaging Het
Prss23 C A 7: 89,159,107 (GRCm39) V321L possibly damaging Het
Psmb2 T C 4: 126,571,630 (GRCm39) M28T probably damaging Het
Ric1 T C 19: 29,544,990 (GRCm39) I230T probably damaging Het
Slc25a17 C T 15: 81,244,901 (GRCm39) V11I probably benign Het
Slc5a4a T C 10: 76,012,407 (GRCm39) V359A probably benign Het
Slco1a5 A T 6: 142,213,964 (GRCm39) D52E possibly damaging Het
Tafa1 C A 6: 96,626,099 (GRCm39) D112E probably damaging Het
Tlr4 A G 4: 66,757,773 (GRCm39) I189V probably benign Het
Washc1 T C 17: 66,424,028 (GRCm39) S247P probably damaging Het
Zdhhc14 T A 17: 5,803,366 (GRCm39) *490R probably null Het
Zfp217 A G 2: 169,961,937 (GRCm39) F130S possibly damaging Het
Other mutations in Prps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00732:Prps2 APN X 166,157,138 (GRCm39) missense possibly damaging 0.81
IGL00755:Prps2 APN X 166,157,138 (GRCm39) missense possibly damaging 0.81
IGL03193:Prps2 APN X 166,157,080 (GRCm39) missense possibly damaging 0.76
R4357:Prps2 UTSW X 166,146,545 (GRCm39) nonsense probably null
R4358:Prps2 UTSW X 166,146,545 (GRCm39) nonsense probably null
R4359:Prps2 UTSW X 166,146,545 (GRCm39) nonsense probably null
R4649:Prps2 UTSW X 166,135,288 (GRCm39) missense probably damaging 0.98
R4650:Prps2 UTSW X 166,135,288 (GRCm39) missense probably damaging 0.98
R4651:Prps2 UTSW X 166,135,288 (GRCm39) missense probably damaging 0.98
R4652:Prps2 UTSW X 166,135,288 (GRCm39) missense probably damaging 0.98
R4653:Prps2 UTSW X 166,135,288 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TAACAGCCAGAGGATACGCG -3'
(R):5'- GAGCTTCAAACCCAGATGCC -3'

Sequencing Primer
(F):5'- TACGCGTAGAGACTCCAGG -3'
(R):5'- CAGCGACTCTTCAGCTGC -3'
Posted On 2015-02-18