Incidental Mutation 'IGL01375:Prps1l1'
ID 78681
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prps1l1
Ensembl Gene ENSMUSG00000092305
Gene Name phosphoribosyl pyrophosphate synthetase 1-like 1
Synonyms 1700011K15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # IGL01375
Quality Score
Status
Chromosome 12
Chromosomal Location 35034760-35036435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35035631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 249 (T249A)
Ref Sequence ENSEMBL: ENSMUSP00000133931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134550]
AlphaFold Q8C5R8
Predicted Effect possibly damaging
Transcript: ENSMUST00000134550
AA Change: T249A

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133931
Gene: ENSMUSG00000092305
AA Change: T249A

DomainStartEndE-ValueType
Pfam:Pribosyltran_N 4 120 7.1e-49 PFAM
Pfam:Pribosyltran 139 261 1.5e-15 PFAM
Pfam:Pribosyl_synth 200 314 2.8e-39 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa2 C T 9: 69,390,301 (GRCm39) R68* probably null Het
Apc C T 18: 34,446,707 (GRCm39) S1167L probably damaging Het
Aqp2 A G 15: 99,479,983 (GRCm39) T149A possibly damaging Het
Asb8 T C 15: 98,039,190 (GRCm39) E70G probably damaging Het
Carmil1 T C 13: 24,278,454 (GRCm39) I172V possibly damaging Het
Cd38 A G 5: 44,060,939 (GRCm39) M172V probably benign Het
Dync2i1 G T 12: 116,193,296 (GRCm39) A552E possibly damaging Het
Dyrk2 A G 10: 118,696,592 (GRCm39) V222A probably damaging Het
Ephb6 T A 6: 41,592,845 (GRCm39) probably benign Het
Fbxo15 T C 18: 84,976,404 (GRCm39) S48P possibly damaging Het
Gsdma3 T C 11: 98,520,767 (GRCm39) probably null Het
H2bl1 A G 13: 99,120,650 (GRCm39) probably benign Het
Htr1d A G 4: 136,170,484 (GRCm39) T238A probably benign Het
Kcnh3 G A 15: 99,124,874 (GRCm39) W108* probably null Het
Kdsr A T 1: 106,655,424 (GRCm39) Y272N probably benign Het
Lrp2 A G 2: 69,308,910 (GRCm39) probably benign Het
Nup210l G A 3: 90,067,200 (GRCm39) V747M probably damaging Het
Or10g3 A G 14: 52,609,865 (GRCm39) I215T probably damaging Het
Or4a67 A G 2: 88,597,810 (GRCm39) V283A probably benign Het
Pfn3 T A 13: 55,562,641 (GRCm39) R113S possibly damaging Het
Pik3r4 T C 9: 105,521,803 (GRCm39) I123T possibly damaging Het
Plec A T 15: 76,060,640 (GRCm39) I3121N probably damaging Het
Prepl C T 17: 85,379,419 (GRCm39) G336D possibly damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Rptor T A 11: 119,787,262 (GRCm39) F1276I possibly damaging Het
Serpina3f G A 12: 104,186,735 (GRCm39) V434I unknown Het
Slc25a12 T C 2: 71,138,394 (GRCm39) probably benign Het
Slc4a4 T C 5: 89,327,593 (GRCm39) C642R probably damaging Het
Slit2 C T 5: 48,439,056 (GRCm39) probably benign Het
Tasor A G 14: 27,162,120 (GRCm39) R159G probably damaging Het
Tgfbr3 A G 5: 107,284,837 (GRCm39) V604A probably benign Het
Tnfrsf1b T C 4: 144,951,986 (GRCm39) Y126C probably damaging Het
Traf4 T C 11: 78,050,908 (GRCm39) N416S probably benign Het
Trappc10 A G 10: 78,024,733 (GRCm39) I1132T possibly damaging Het
Vps8 T A 16: 21,378,122 (GRCm39) Y642* probably null Het
Other mutations in Prps1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Prps1l1 APN 12 35,035,377 (GRCm39) missense probably benign 0.09
R0379:Prps1l1 UTSW 12 35,035,077 (GRCm39) missense probably benign 0.33
R2109:Prps1l1 UTSW 12 35,035,521 (GRCm39) missense probably benign
R3909:Prps1l1 UTSW 12 35,035,797 (GRCm39) missense possibly damaging 0.84
R6129:Prps1l1 UTSW 12 35,035,329 (GRCm39) missense probably damaging 0.99
R7284:Prps1l1 UTSW 12 35,035,317 (GRCm39) missense possibly damaging 0.65
R7295:Prps1l1 UTSW 12 35,035,679 (GRCm39) missense probably benign
R7374:Prps1l1 UTSW 12 35,035,424 (GRCm39) missense possibly damaging 0.79
R8118:Prps1l1 UTSW 12 35,035,340 (GRCm39) missense probably damaging 0.96
R8240:Prps1l1 UTSW 12 35,035,140 (GRCm39) missense probably damaging 0.97
R8968:Prps1l1 UTSW 12 35,035,205 (GRCm39) missense probably damaging 1.00
R9026:Prps1l1 UTSW 12 35,035,546 (GRCm39) missense possibly damaging 0.58
R9416:Prps1l1 UTSW 12 35,035,089 (GRCm39) missense
R9463:Prps1l1 UTSW 12 35,035,559 (GRCm39) missense probably damaging 0.98
RF004:Prps1l1 UTSW 12 35,035,398 (GRCm39) missense probably damaging 0.99
Z1177:Prps1l1 UTSW 12 35,035,263 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05