Incidental Mutation 'IGL00755:Prps2'
ID13184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prps2
Ensembl Gene ENSMUSG00000025742
Gene Namephosphoribosyl pyrophosphate synthetase 2
SynonymsPrps-2, 2610101M19Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.389) question?
Stock #IGL00755
Quality Score
Status
ChromosomeX
Chromosomal Location167346322-167382749 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 167374142 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 56 (I56N)
Ref Sequence ENSEMBL: ENSMUSP00000026839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026839]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026839
AA Change: I56N

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026839
Gene: ENSMUSG00000025742
AA Change: I56N

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
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,542,102 Y4381C possibly damaging Het
Card6 G A 15: 5,098,941 T991I possibly damaging Het
Cd163 A G 6: 124,318,657 N684S possibly damaging Het
Cep290 A G 10: 100,531,104 T1106A probably damaging Het
Cplx4 T A 18: 65,957,095 probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Dnah6 A T 6: 73,212,434 probably null Het
Dock8 A G 19: 25,051,509 K26E probably benign Het
Fancl G A 11: 26,470,916 V349I probably benign Het
Gsg1l A G 7: 125,923,426 F210S possibly damaging Het
Mboat2 T A 12: 24,957,646 V419E probably benign Het
Mycbp2 A G 14: 103,194,621 V2327A possibly damaging Het
Ndnf C T 6: 65,703,258 P174S probably damaging Het
Nlrp9b A T 7: 20,023,522 D228V probably damaging Het
Reln A G 5: 22,060,380 V438A probably damaging Het
Rmdn1 T A 4: 19,580,401 N42K probably benign Het
Sass6 G A 3: 116,618,328 E312K probably damaging Het
Scrn1 T A 6: 54,520,709 D299V possibly damaging Het
Slk T A 19: 47,609,010 C86S probably damaging Het
Veph1 C T 3: 66,255,010 E76K probably damaging Het
Zfp282 C T 6: 47,880,390 P186S probably damaging Het
Other mutations in Prps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00732:Prps2 APN X 167374142 missense possibly damaging 0.81
IGL03193:Prps2 APN X 167374084 missense possibly damaging 0.76
R3420:Prps2 UTSW X 167382508 splice site probably null
R4357:Prps2 UTSW X 167363549 nonsense probably null
R4358:Prps2 UTSW X 167363549 nonsense probably null
R4359:Prps2 UTSW X 167363549 nonsense probably null
R4649:Prps2 UTSW X 167352292 missense probably damaging 0.98
R4650:Prps2 UTSW X 167352292 missense probably damaging 0.98
R4651:Prps2 UTSW X 167352292 missense probably damaging 0.98
R4652:Prps2 UTSW X 167352292 missense probably damaging 0.98
R4653:Prps2 UTSW X 167352292 missense probably damaging 0.98
Posted On2012-12-06