Incidental Mutation 'R4359:Prps2'
ID 324836
Institutional Source Beutler Lab
Gene Symbol Prps2
Ensembl Gene ENSMUSG00000025742
Gene Name phosphoribosyl pyrophosphate synthetase 2
Synonyms 2610101M19Rik, Prps-2
MMRRC Submission 041670-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.397) question?
Stock # R4359 (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: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,247,629 (GRCm39) V2459F probably benign Het
Acot1 T C 12: 84,061,314 (GRCm39) Y207H probably damaging Het
Anapc1 A G 2: 128,465,476 (GRCm39) V1668A possibly damaging Het
Atr T A 9: 95,833,589 (GRCm39) I2613N probably damaging Het
Baz2b A G 2: 59,731,957 (GRCm39) I2027T possibly damaging Het
C2cd3 T G 7: 100,090,296 (GRCm39) H466Q probably damaging Het
Cdc14b T A 13: 64,396,225 (GRCm39) I15F probably benign Het
Cep135 G T 5: 76,759,561 (GRCm39) K438N possibly damaging Het
Cnot1 T C 8: 96,466,476 (GRCm39) D1587G probably damaging Het
Cxcl16 C A 11: 70,349,631 (GRCm39) V65L possibly damaging Het
Dhx36 T A 3: 62,382,699 (GRCm39) T783S probably benign Het
Disp3 T C 4: 148,356,389 (GRCm39) N157S probably benign Het
Efcab3 G T 11: 104,624,547 (GRCm39) probably null Het
Fem1al A T 11: 29,774,669 (GRCm39) S263T probably benign Het
Gfod2 T C 8: 106,444,177 (GRCm39) N122S possibly damaging Het
Grin3b T A 10: 79,808,731 (GRCm39) D160E probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Htr1b C A 9: 81,514,404 (GRCm39) A68S probably benign Het
Ifit2 A T 19: 34,550,544 (GRCm39) D28V possibly 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
Klhl25 T C 7: 75,516,480 (GRCm39) V462A probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
L3mbtl3 A G 10: 26,203,639 (GRCm39) V397A unknown Het
Lpcat2 C A 8: 93,599,734 (GRCm39) P234Q probably benign Het
Lrp1b A C 2: 40,793,077 (GRCm39) C2532W probably damaging Het
Malt1 T C 18: 65,609,300 (GRCm39) V768A probably benign Het
Mindy3 A T 2: 12,401,020 (GRCm39) W233R probably damaging Het
Ncor1 T C 11: 62,249,736 (GRCm39) K1054R probably damaging Het
Nin T A 12: 70,061,712 (GRCm39) T2051S probably benign Het
Or10j5 C A 1: 172,784,647 (GRCm39) A95E probably benign Het
Or51ac3 A G 7: 103,213,742 (GRCm39) F248S probably benign Het
Pcsk1 T C 13: 75,260,838 (GRCm39) S354P possibly damaging Het
Pilra T C 5: 137,829,576 (GRCm39) T160A probably benign Het
Plekha5 G C 6: 140,537,414 (GRCm39) E540D probably benign Het
Rasgrf2 C A 13: 92,038,796 (GRCm39) D1017Y probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Srd5a3 T A 5: 76,295,547 (GRCm39) F79Y probably damaging Het
Stxbp4 C T 11: 90,385,470 (GRCm39) W506* probably null Het
Timeless C A 10: 128,083,211 (GRCm39) Q653K probably benign Het
Trio G A 15: 27,749,883 (GRCm39) Q1129* probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zzef1 T A 11: 72,714,334 (GRCm39) S275T probably 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
R3420:Prps2 UTSW X 166,165,504 (GRCm39) splice site probably null
R4357:Prps2 UTSW X 166,146,545 (GRCm39) nonsense probably null
R4358: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 2015-07-06