Incidental Mutation 'R4357:Prps2'
ID 324640
Institutional Source Beutler Lab
Gene Symbol Prps2
Ensembl Gene ENSMUSG00000025742
Gene Name phosphoribosyl pyrophosphate synthetase 2
Synonyms 2610101M19Rik, Prps-2
MMRRC Submission 041109-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.397) question?
Stock # R4357 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 166129318-166165745 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 166146545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 176 (K176*)
Ref Sequence ENSEMBL: ENSMUSP00000026839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026839]
AlphaFold Q9CS42
Predicted Effect probably null
Transcript: ENSMUST00000026839
AA Change: K176*
SMART Domains Protein: ENSMUSP00000026839
Gene: ENSMUSG00000025742
AA Change: K176*

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: ENSMUST00000150690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157826
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 41,248,084 (GRCm39) T65A possibly damaging Het
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
Ap4m1 A G 5: 138,171,311 (GRCm39) E125G probably damaging Het
Atp13a2 C A 4: 140,729,215 (GRCm39) D599E probably benign Het
Brme1 T C 8: 84,886,221 (GRCm39) L59P probably benign Het
Camkv G A 9: 107,825,145 (GRCm39) G354E probably benign Het
Casp8ap2 T A 4: 32,646,150 (GRCm39) M1741K probably benign Het
Chtf18 T C 17: 25,938,106 (GRCm39) D119G probably benign Het
Cnga1 T A 5: 72,775,595 (GRCm39) D42V probably damaging Het
Cysltr2 T C 14: 73,267,084 (GRCm39) I209V probably benign Het
Defa27 A T 8: 21,805,608 (GRCm39) Q16L probably null Het
Dnaja3 T C 16: 4,517,731 (GRCm39) I321T probably damaging Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eif2ak3 T A 6: 70,861,859 (GRCm39) I467N probably damaging Het
Eif5b T A 1: 38,089,339 (GRCm39) V1105E probably damaging Het
Gfod2 T C 8: 106,444,177 (GRCm39) N122S possibly damaging Het
Gm10803 A G 2: 93,394,350 (GRCm39) R41G unknown Het
Gm38392 A T 3: 88,154,741 (GRCm39) I221N probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hsd17b6 G T 10: 127,829,637 (GRCm39) probably null Het
Ids C A X: 69,389,950 (GRCm39) G506C probably damaging Het
Ifna15 G T 4: 88,476,079 (GRCm39) T135N probably benign Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Kif24 A G 4: 41,413,827 (GRCm39) probably null Het
Lats2 A G 14: 57,936,840 (GRCm39) S550P probably damaging Het
Lmo7 A G 14: 102,125,091 (GRCm39) R406G probably null Het
Lpcat2 C A 8: 93,599,734 (GRCm39) P234Q probably benign Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Lrrfip2 A G 9: 111,028,755 (GRCm39) E326G probably damaging Het
Megf8 T A 7: 25,055,174 (GRCm39) I1969N probably benign Het
Mib1 A G 18: 10,751,844 (GRCm39) N242S probably benign Het
Ngf A G 3: 102,427,521 (GRCm39) E94G probably benign Het
Oas2 C T 5: 120,876,734 (GRCm39) probably null Het
Odf2 A G 2: 29,782,256 (GRCm39) T75A probably benign Het
Or4f60 A G 2: 111,902,583 (GRCm39) L115P probably damaging Het
Or5w11 T A 2: 87,458,810 (GRCm39) M1K probably null Het
Pi4ka T A 16: 17,185,303 (GRCm39) I266F probably benign Het
Psmd2 T G 16: 20,475,402 (GRCm39) D393E probably benign Het
Rabep2 A G 7: 126,047,397 (GRCm39) I753T probably damaging Het
Rara A C 11: 98,858,937 (GRCm39) I129L probably damaging Het
Rasgrf2 C A 13: 92,038,796 (GRCm39) D1017Y probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Spmip4 T C 6: 50,551,190 (GRCm39) T420A probably benign Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Sptlc1 A T 13: 53,528,068 (GRCm39) I32K probably damaging Het
Srd5a3 T A 5: 76,295,547 (GRCm39) F79Y probably damaging Het
Ssrp1 A T 2: 84,871,495 (GRCm39) M306L probably benign Het
Sulf2 T C 2: 165,919,497 (GRCm39) E817G probably benign Het
Tiam2 C A 17: 3,501,128 (GRCm39) D922E probably damaging Het
Tle4 A G 19: 14,445,625 (GRCm39) V207A probably benign Het
Ttll12 A T 15: 83,465,958 (GRCm39) C413S probably damaging Het
Usp45 T A 4: 21,834,350 (GRCm39) Y809* probably null Het
Vmn2r59 G A 7: 41,661,644 (GRCm39) P724S probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign 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
R3420:Prps2 UTSW X 166,165,504 (GRCm39) splice site 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'- GCATGCTATCTATAAAGGTTGTCAGTG -3'
(R):5'- CCTTGACCCTGCCAATCATG -3'

Sequencing Primer
(F):5'- GCTCCAAGTTAATGTCAGGAATGTGC -3'
(R):5'- GACCCTGCCAATCATGTACTC -3'
Posted On 2015-06-24