Incidental Mutation 'IGL03193:Prps2'
ID 412716
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prps2
Ensembl Gene ENSMUSG00000025742
Gene Name phosphoribosyl pyrophosphate synthetase 2
Synonyms 2610101M19Rik, Prps-2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.397) question?
Stock # IGL03193
Quality Score
Status
Chromosome X
Chromosomal Location 166129318-166165745 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 166157080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 75 (N75K)
Ref Sequence ENSEMBL: ENSMUSP00000026839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026839]
AlphaFold Q9CS42
Predicted Effect possibly damaging
Transcript: ENSMUST00000026839
AA Change: N75K

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026839
Gene: ENSMUSG00000025742
AA Change: N75K

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530053G22Rik T C 6: 60,379,137 (GRCm39) noncoding transcript Het
Arhgef12 T C 9: 42,903,829 (GRCm39) probably benign Het
Bmper C A 9: 23,277,544 (GRCm39) H211Q possibly damaging Het
C130074G19Rik A T 1: 184,614,899 (GRCm39) L97Q probably damaging Het
Csmd3 A T 15: 47,492,626 (GRCm39) probably benign Het
Cyb561a3 T C 19: 10,559,764 (GRCm39) Y30H probably benign Het
Cyp2a22 T A 7: 26,635,846 (GRCm39) D239V probably benign Het
Fras1 A T 5: 96,925,965 (GRCm39) Y3723F probably damaging Het
Frem1 C T 4: 82,912,263 (GRCm39) probably benign Het
Gm382 G A X: 125,971,321 (GRCm39) A1169T probably damaging Het
Golga2 T C 2: 32,195,020 (GRCm39) L696P probably damaging Het
Gse1 G T 8: 121,298,079 (GRCm39) probably null Het
Herc1 T C 9: 66,309,962 (GRCm39) L1104P probably benign Het
Myh14 A G 7: 44,279,369 (GRCm39) V945A possibly damaging Het
Myo7a A G 7: 97,740,264 (GRCm39) F577L probably damaging Het
Ndst2 A T 14: 20,779,917 (GRCm39) S108T probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Neo1 T C 9: 58,815,767 (GRCm39) Y836C probably damaging Het
Nlrp4e T C 7: 23,020,251 (GRCm39) L246P probably damaging Het
Or52n2 A G 7: 104,542,263 (GRCm39) C191R probably benign Het
Osbpl9 A G 4: 108,924,163 (GRCm39) S471P possibly damaging Het
Patl1 T A 19: 11,898,204 (GRCm39) D127E possibly damaging Het
Pla2g6 G A 15: 79,201,985 (GRCm39) P62L probably damaging Het
Prlr T A 15: 10,328,376 (GRCm39) S284T possibly damaging Het
Sec16b A T 1: 157,362,963 (GRCm39) M265L probably benign Het
Slc9a2 G T 1: 40,795,431 (GRCm39) V511L probably benign Het
Tm9sf5 A G X: 56,463,503 (GRCm39) probably benign Het
Tnp1 G A 1: 73,054,923 (GRCm39) R34W probably damaging Het
Tpr A G 1: 150,315,831 (GRCm39) D2036G possibly damaging Het
Trpm6 T C 19: 18,803,236 (GRCm39) V893A possibly damaging Het
Tshb T C 3: 102,685,515 (GRCm39) Y38C probably damaging Het
Usp17lb A T 7: 104,490,484 (GRCm39) S148T 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
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
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
Posted On 2016-08-02