Incidental Mutation 'R7284:Prps1l1'
ID 565892
Institutional Source Beutler Lab
Gene Symbol Prps1l1
Ensembl Gene ENSMUSG00000092305
Gene Name phosphoribosyl pyrophosphate synthetase 1-like 1
Synonyms 1700011K15Rik
MMRRC Submission 045392-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R7284 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 35034760-35036435 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35035317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 144 (N144S)
Ref Sequence ENSEMBL: ENSMUSP00000133931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134550]
AlphaFold Q8C5R8
Predicted Effect possibly damaging
Transcript: ENSMUST00000134550
AA Change: N144S

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133931
Gene: ENSMUSG00000092305
AA Change: N144S

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
Meta Mutation Damage Score 0.0994 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik G T 7: 12,246,605 (GRCm39) E34* probably null Het
4933421I07Rik C T 7: 42,097,404 (GRCm39) R30H probably damaging Het
AB124611 C A 9: 21,450,400 (GRCm39) Q158K probably benign Het
Abcc3 C T 11: 94,247,873 (GRCm39) A1207T probably benign Het
Abcc9 A T 6: 142,628,643 (GRCm39) L367Q probably damaging Het
Aftph T C 11: 20,676,812 (GRCm39) K266E probably benign Het
Akap9 T A 5: 4,006,246 (GRCm39) D190E probably damaging Het
Angel1 G T 12: 86,767,298 (GRCm39) D359E probably damaging Het
Ano6 T C 15: 95,846,184 (GRCm39) I474T probably damaging Het
Atp2c1 A T 9: 105,398,008 (GRCm39) probably null Het
Best1 T C 19: 9,963,737 (GRCm39) probably null Het
Bhlha9 A G 11: 76,563,492 (GRCm39) S40G probably benign Het
Cabin1 G A 10: 75,530,668 (GRCm39) R178C Het
Ccnb1ip1 A G 14: 51,029,736 (GRCm39) Y109H probably damaging Het
Col14a1 T C 15: 55,381,715 (GRCm39) S1763P probably damaging Het
Dars1 T C 1: 128,300,004 (GRCm39) T327A probably benign Het
Dhx8 T C 11: 101,645,648 (GRCm39) Y889H probably damaging Het
Dlg4 T A 11: 69,932,908 (GRCm39) Y523* probably null Het
Dnah10 A T 5: 124,909,662 (GRCm39) D4484V probably benign Het
Dnah9 A T 11: 65,881,302 (GRCm39) M2591K probably damaging Het
Dock2 T C 11: 34,180,672 (GRCm39) E1715G probably benign Het
Dym A G 18: 75,252,242 (GRCm39) Y336C possibly damaging Het
Ezh2 A G 6: 47,521,453 (GRCm39) M439T probably benign Het
Folr1 T G 7: 101,508,677 (GRCm39) N83H possibly damaging Het
Ganab T C 19: 8,889,904 (GRCm39) L656P probably damaging Het
Gmnc T C 16: 26,779,542 (GRCm39) H161R probably benign Het
Gria4 A G 9: 4,472,017 (GRCm39) Y491H probably damaging Het
Heatr3 T A 8: 88,883,402 (GRCm39) C412S possibly damaging Het
Hmgcr A C 13: 96,789,173 (GRCm39) V716G probably damaging Het
Igsf9 A G 1: 172,324,479 (GRCm39) D799G probably damaging Het
Ikbkb T C 8: 23,158,976 (GRCm39) T501A probably benign Het
Kbtbd3 C T 9: 4,330,690 (GRCm39) R355* probably null Het
Kcna7 T A 7: 45,058,652 (GRCm39) I313N probably damaging Het
Kirrel1 A C 3: 86,990,694 (GRCm39) D709E probably benign Het
Klb T A 5: 65,540,821 (GRCm39) S971R probably benign Het
Krtap4-13 A T 11: 99,700,238 (GRCm39) C140* probably null Het
Lacc1 A T 14: 77,268,309 (GRCm39) L334Q probably damaging Het
Map6d1 T A 16: 20,059,775 (GRCm39) R97* probably null Het
Mgat5b T C 11: 116,835,746 (GRCm39) S129P probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Myh9 G A 15: 77,671,796 (GRCm39) R432C probably damaging Het
Ncf4 A G 15: 78,144,902 (GRCm39) T236A probably benign Het
Neb T C 2: 52,148,804 (GRCm39) D2581G probably damaging Het
Nid1 T A 13: 13,663,675 (GRCm39) M778K probably benign Het
Npas2 A G 1: 39,363,548 (GRCm39) D209G probably benign Het
Nploc4 C T 11: 120,307,196 (GRCm39) V181I possibly damaging Het
Nrcam A T 12: 44,610,817 (GRCm39) I506F probably damaging Het
Or52w1 T A 7: 105,017,752 (GRCm39) M73K probably damaging Het
Or5h27 A G 16: 59,006,331 (GRCm39) *172Q probably null Het
Or6c3b T C 10: 129,527,220 (GRCm39) N230S probably benign Het
Pask T A 1: 93,248,391 (GRCm39) Q970L probably benign Het
Pfkfb4 T C 9: 108,840,308 (GRCm39) I308T possibly damaging Het
Pla2g4d A T 2: 120,114,617 (GRCm39) L38Q probably damaging Het
Pld1 A G 3: 28,185,882 (GRCm39) T1036A possibly damaging Het
Pom121l2 A G 13: 22,166,775 (GRCm39) T349A probably damaging Het
Ppp1r13b A G 12: 111,801,400 (GRCm39) I551T possibly damaging Het
Prss56 A G 1: 87,113,123 (GRCm39) N179S probably null Het
Prune2 T C 19: 17,097,250 (GRCm39) L918P probably damaging Het
Ptprz1 C T 6: 23,000,097 (GRCm39) T729I probably damaging Het
Relch T A 1: 105,662,308 (GRCm39) H942Q probably benign Het
Rrp7a T C 15: 83,006,071 (GRCm39) T60A probably damaging Het
Snx27 A G 3: 94,431,498 (GRCm39) Y299H probably damaging Het
Spaca3 G T 11: 80,754,847 (GRCm39) R96L possibly damaging Het
Stat1 A G 1: 52,188,081 (GRCm39) N495S probably benign Het
Tas2r130 T C 6: 131,607,270 (GRCm39) N175S probably benign Het
Tcaf2 A G 6: 42,606,472 (GRCm39) L494P probably damaging Het
Tdrd12 C A 7: 35,179,561 (GRCm39) probably null Het
Thbs1 A G 2: 117,949,837 (GRCm39) N604S probably damaging Het
Togaram1 T C 12: 65,055,454 (GRCm39) F1482L probably benign Het
Trhr2 A T 8: 123,087,114 (GRCm39) S109T probably damaging Het
Trpc3 A T 3: 36,678,562 (GRCm39) M841K probably damaging Het
Tubgcp5 C T 7: 55,473,315 (GRCm39) R798C probably benign Het
Xirp2 T A 2: 67,347,173 (GRCm39) M3138K probably benign Het
Zdhhc4 G A 5: 143,307,646 (GRCm39) T125I probably benign Het
Zfp239 T A 6: 117,848,716 (GRCm39) C151* probably null Het
Zfp473 C T 7: 44,382,627 (GRCm39) E569K not run Het
Zzef1 T A 11: 72,777,516 (GRCm39) D1782E probably damaging Het
Other mutations in Prps1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Prps1l1 APN 12 35,035,377 (GRCm39) missense probably benign 0.09
IGL01375:Prps1l1 APN 12 35,035,631 (GRCm39) missense possibly damaging 0.78
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
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
Predicted Primers PCR Primer
(F):5'- ATCATGATCAATGCCTGCAAGATC -3'
(R):5'- CATGCGGTCCACTTCATTGG -3'

Sequencing Primer
(F):5'- ATGCCTGCAAGATCGCTTCAG -3'
(R):5'- GCGGTCCACTTCATTGGCTTTC -3'
Posted On 2019-06-26