Incidental Mutation 'IGL02545:Ppat'
ID 297800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppat
Ensembl Gene ENSMUSG00000029246
Gene Name phosphoribosyl pyrophosphate amidotransferase
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # IGL02545
Quality Score
Chromosome 5
Chromosomal Location 76913249-76951578 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76915232 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 511 (Y511H)
Ref Sequence ENSEMBL: ENSMUSP00000120632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140076] [ENSMUST00000155272]
AlphaFold Q8CIH9
Predicted Effect noncoding transcript
Transcript: ENSMUST00000031158
Predicted Effect probably damaging
Transcript: ENSMUST00000140076
AA Change: Y511H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120632
Gene: ENSMUSG00000029246
AA Change: Y511H

Pfam:GATase_4 27 218 4e-11 PFAM
Pfam:GATase_6 74 216 1.6e-18 PFAM
Pfam:GATase_7 91 241 1.6e-16 PFAM
Pfam:Pribosyltran 309 420 1.3e-9 PFAM
low complexity region 474 482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155272
SMART Domains Protein: ENSMUSP00000116438
Gene: ENSMUSG00000029246

SCOP:d1ecfa2 12 43 6e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 160,075,424 (GRCm38) L88P probably damaging Het
Adamtsl4 G A 3: 95,683,374 (GRCm38) Q354* probably null Het
Aox3 A C 1: 58,183,486 (GRCm38) D1146A probably damaging Het
Ap2a1 T A 7: 44,906,426 (GRCm38) H340L probably damaging Het
Ccni G T 5: 93,187,777 (GRCm38) F167L probably benign Het
Ctcf A G 8: 105,664,381 (GRCm38) T207A probably benign Het
D930020B18Rik A G 10: 121,689,933 (GRCm38) H580R possibly damaging Het
Dock3 A T 9: 107,062,072 (GRCm38) L159Q probably damaging Het
Dync1i2 T C 2: 71,262,751 (GRCm38) I630T possibly damaging Het
Fchsd2 A G 7: 101,198,508 (GRCm38) T202A probably benign Het
Gdi2 A G 13: 3,557,009 (GRCm38) Y214C probably damaging Het
Gna14 T A 19: 16,533,726 (GRCm38) S46R probably damaging Het
Hfm1 A G 5: 106,895,287 (GRCm38) I627T probably damaging Het
Ighv1-19 G A 12: 114,708,739 (GRCm38) A87V probably damaging Het
Itch G A 2: 155,172,586 (GRCm38) probably null Het
Klrb1b T C 6: 128,820,309 (GRCm38) Q72R possibly damaging Het
Lrpprc A G 17: 84,775,425 (GRCm38) F144L probably benign Het
Lrrc7 A G 3: 158,185,374 (GRCm38) probably benign Het
Ndufa11 T A 17: 56,721,338 (GRCm38) F72L probably damaging Het
Neu1 T A 17: 34,931,501 (GRCm38) V32E probably benign Het
Olfr181 T A 16: 58,926,470 (GRCm38) I34F possibly damaging Het
Osmr T C 15: 6,823,579 (GRCm38) K611E probably damaging Het
Pcdh20 A G 14: 88,468,844 (GRCm38) V340A possibly damaging Het
Pih1d3 A G 1: 31,223,096 (GRCm38) D53G probably damaging Het
Plxna2 T A 1: 194,786,690 (GRCm38) probably benign Het
Pou6f1 C T 15: 100,583,425 (GRCm38) W210* probably null Het
Psme4 T G 11: 30,841,586 (GRCm38) V1147G possibly damaging Het
Scap C T 9: 110,378,690 (GRCm38) T489I probably benign Het
Sptb A G 12: 76,607,980 (GRCm38) probably null Het
Tcl1b5 T A 12: 105,180,037 (GRCm38) probably benign Het
Trim54 T A 5: 31,132,165 (GRCm38) probably benign Het
Unc13c C T 9: 73,481,075 (GRCm38) R2143Q probably damaging Het
Vmn1r56 A T 7: 5,196,114 (GRCm38) V168D probably benign Het
Vmn2r66 A T 7: 85,006,590 (GRCm38) M406K possibly damaging Het
Other mutations in Ppat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02679:Ppat APN 5 76,919,469 (GRCm38) missense probably benign 0.10
R0836:Ppat UTSW 5 76,922,501 (GRCm38) missense probably benign 0.09
R2327:Ppat UTSW 5 76,922,467 (GRCm38) missense possibly damaging 0.94
R2850:Ppat UTSW 5 76,919,375 (GRCm38) missense probably benign
R3434:Ppat UTSW 5 76,918,065 (GRCm38) missense probably damaging 0.99
R4301:Ppat UTSW 5 76,928,501 (GRCm38) intron probably benign
R4422:Ppat UTSW 5 76,915,214 (GRCm38) missense probably damaging 1.00
R4423:Ppat UTSW 5 76,915,214 (GRCm38) missense probably damaging 1.00
R4424:Ppat UTSW 5 76,915,214 (GRCm38) missense probably damaging 1.00
R4839:Ppat UTSW 5 76,950,964 (GRCm38) nonsense probably null
R4872:Ppat UTSW 5 76,926,793 (GRCm38) missense probably damaging 0.99
R5007:Ppat UTSW 5 76,928,678 (GRCm38) intron probably benign
R5010:Ppat UTSW 5 76,928,678 (GRCm38) intron probably benign
R5325:Ppat UTSW 5 76,928,422 (GRCm38) intron probably benign
R5982:Ppat UTSW 5 76,915,265 (GRCm38) missense probably benign
R6209:Ppat UTSW 5 76,918,146 (GRCm38) missense probably benign 0.00
R6225:Ppat UTSW 5 76,922,355 (GRCm38) missense probably damaging 0.99
R6287:Ppat UTSW 5 76,918,214 (GRCm38) nonsense probably null
R7367:Ppat UTSW 5 76,919,864 (GRCm38) nonsense probably null
R7426:Ppat UTSW 5 76,915,979 (GRCm38) missense probably damaging 0.99
R7945:Ppat UTSW 5 76,915,391 (GRCm38) missense probably benign 0.01
R8047:Ppat UTSW 5 76,925,710 (GRCm38) missense probably damaging 1.00
R9343:Ppat UTSW 5 76,916,037 (GRCm38) missense probably benign 0.32
Posted On 2015-04-16