Incidental Mutation 'R4358:Prps2'
ID 324682
Institutional Source Beutler Lab
Gene Symbol Prps2
Ensembl Gene ENSMUSG00000025742
Gene Name phosphoribosyl pyrophosphate synthetase 2
Synonyms 2610101M19Rik, Prps-2
MMRRC Submission 041110-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.397) question?
Stock # R4358 (G1)
Quality Score 222
Status 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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (48/49)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
Birc6 T A 17: 74,926,663 (GRCm39) probably null Het
Chil3 G A 3: 106,067,815 (GRCm39) Q117* probably null Het
Daglb T C 5: 143,458,889 (GRCm39) probably benign Het
Dnah11 G A 12: 118,089,578 (GRCm39) R1163* probably null Het
Ftsj3 G A 11: 106,144,502 (GRCm39) A134V probably benign Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Gfod2 T C 8: 106,444,177 (GRCm39) N122S possibly damaging Het
Golga4 A G 9: 118,380,946 (GRCm39) E507G probably benign 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
L3hypdh A T 12: 72,124,198 (GRCm39) D247E probably damaging Het
Lama2 A T 10: 26,860,489 (GRCm39) N2999K probably damaging 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
Mcm9 A C 10: 53,413,749 (GRCm39) C444G probably benign Het
Mecom G A 3: 30,033,934 (GRCm39) Q246* probably null Het
Mib1 A G 18: 10,751,844 (GRCm39) N242S probably benign Het
Or2a7 T A 6: 43,151,160 (GRCm39) M80K probably damaging Het
Or8g26 G A 9: 39,095,864 (GRCm39) C127Y probably damaging Het
P3h4 A G 11: 100,304,452 (GRCm39) F263S probably damaging Het
Pcsk1 T C 13: 75,260,838 (GRCm39) S354P possibly damaging Het
Pms2 T A 5: 143,862,744 (GRCm39) F617Y probably damaging Het
Psmd13 G T 7: 140,469,418 (GRCm39) probably benign Het
Pygl G A 12: 70,242,464 (GRCm39) S573L probably damaging Het
Rapgef3 A G 15: 97,646,529 (GRCm39) V794A probably benign Het
Rasgrf2 C A 13: 92,038,796 (GRCm39) D1017Y probably damaging Het
Rb1cc1 A G 1: 6,315,861 (GRCm39) D555G probably damaging Het
Rptor G T 11: 119,562,171 (GRCm39) E111D probably damaging Het
Sall4 T C 2: 168,597,400 (GRCm39) E480G probably benign Het
Scn4a G A 11: 106,239,683 (GRCm39) probably null Het
Scn8a G A 15: 100,838,014 (GRCm39) A94T probably benign Het
Slc26a6 T A 9: 108,738,982 (GRCm39) C636S probably benign Het
Slc38a11 T C 2: 65,188,460 (GRCm39) K103R probably benign Het
Sned1 T C 1: 93,202,381 (GRCm39) L675P probably benign Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Tmem132d G A 5: 128,061,405 (GRCm39) T399M possibly damaging Het
Zfp939 A G 7: 39,123,144 (GRCm39) noncoding transcript Het
Zfp951 T C 5: 104,962,541 (GRCm39) K342E 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
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