Incidental Mutation 'R4301:Ppat'
ID 322409
Institutional Source Beutler Lab
Gene Symbol Ppat
Ensembl Gene ENSMUSG00000029246
Gene Name phosphoribosyl pyrophosphate amidotransferase
Synonyms 5730454C12Rik
MMRRC Submission 041088-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R4301 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 77061096-77099425 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 77076348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000140076] [ENSMUST00000155272]
AlphaFold Q8CIH9
Predicted Effect noncoding transcript
Transcript: ENSMUST00000031158
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101090
Predicted Effect probably benign
Transcript: ENSMUST00000140076
SMART Domains Protein: ENSMUSP00000120632
Gene: ENSMUSG00000029246

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 noncoding transcript
Transcript: ENSMUST00000145897
Predicted Effect probably benign
Transcript: ENSMUST00000155272
SMART Domains Protein: ENSMUSP00000116438
Gene: ENSMUSG00000029246

SCOP:d1ecfa2 12 43 6e-3 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (43/43)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,377,266 (GRCm39) V95D probably damaging Het
Adamtsl2 A G 2: 26,977,295 (GRCm39) D252G probably null Het
Adgra3 T C 5: 50,118,420 (GRCm39) R1043G possibly damaging Het
Atxn7l1 A G 12: 33,417,237 (GRCm39) D562G probably damaging Het
Ccdc70 T C 8: 22,463,228 (GRCm39) V6A possibly damaging Het
Cdc25a T C 9: 109,718,810 (GRCm39) V337A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Crb1 A G 1: 139,176,568 (GRCm39) S472P probably benign Het
Fam193b G A 13: 55,690,417 (GRCm39) R740* probably null Het
Fer G T 17: 64,385,905 (GRCm39) L292F probably damaging Het
Gmppa G A 1: 75,419,140 (GRCm39) R349H possibly damaging Het
Hspa1a T C 17: 35,189,482 (GRCm39) I474V probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc30 A G 17: 67,939,563 (GRCm39) S6P probably damaging Het
Lzts3 A G 2: 130,478,358 (GRCm39) S133P probably damaging Het
Mrtfb T C 16: 13,216,169 (GRCm39) Y294H probably damaging Het
Mtmr12 T A 15: 12,236,106 (GRCm39) F122I possibly damaging Het
Mypn A G 10: 62,954,263 (GRCm39) Y124H probably damaging Het
Nfat5 T C 8: 108,082,327 (GRCm39) probably benign Het
Npr2 T C 4: 43,641,332 (GRCm39) probably null Het
Or5a3 T C 19: 12,400,081 (GRCm39) L136P probably damaging Het
Pgm2 G A 5: 64,261,140 (GRCm39) W51* probably null Het
Phip G A 9: 82,841,766 (GRCm39) R48* probably null Het
Piezo2 T C 18: 63,217,911 (GRCm39) T1075A probably damaging Het
Ppp2r2b T A 18: 43,031,811 (GRCm39) E23D probably null Het
Prickle1 T C 15: 93,406,517 (GRCm39) I169V possibly damaging Het
Rab37 T A 11: 115,049,390 (GRCm39) D95E possibly damaging Het
Sash1 A G 10: 8,627,234 (GRCm39) V50A probably benign Het
Siae C A 9: 37,545,009 (GRCm39) Q335K possibly damaging Het
Snx14 A T 9: 88,292,676 (GRCm39) I217K probably damaging Het
Son A G 16: 91,455,299 (GRCm39) T1349A possibly damaging Het
Sptb A G 12: 76,659,471 (GRCm39) L1143S probably damaging Het
Trim80 T C 11: 115,335,939 (GRCm39) probably null Het
Trpm3 T C 19: 22,964,656 (GRCm39) S1374P probably benign Het
Vldlr C A 19: 27,215,802 (GRCm39) D266E possibly damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Zbtb10 A T 3: 9,330,220 (GRCm39) Q526L probably damaging Het
Zfr2 T C 10: 81,078,018 (GRCm39) probably benign Het
Zswim8 G A 14: 20,763,977 (GRCm39) R449H possibly damaging Het
Zzef1 T C 11: 72,779,861 (GRCm39) V1878A probably damaging Het
Other mutations in Ppat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02545:Ppat APN 5 77,063,079 (GRCm39) missense probably damaging 1.00
IGL02679:Ppat APN 5 77,067,316 (GRCm39) missense probably benign 0.10
R0836:Ppat UTSW 5 77,070,348 (GRCm39) missense probably benign 0.09
R2327:Ppat UTSW 5 77,070,314 (GRCm39) missense possibly damaging 0.94
R2850:Ppat UTSW 5 77,067,222 (GRCm39) missense probably benign
R3434:Ppat UTSW 5 77,065,912 (GRCm39) missense probably damaging 0.99
R4422:Ppat UTSW 5 77,063,061 (GRCm39) missense probably damaging 1.00
R4423:Ppat UTSW 5 77,063,061 (GRCm39) missense probably damaging 1.00
R4424:Ppat UTSW 5 77,063,061 (GRCm39) missense probably damaging 1.00
R4839:Ppat UTSW 5 77,098,811 (GRCm39) nonsense probably null
R4872:Ppat UTSW 5 77,074,640 (GRCm39) missense probably damaging 0.99
R5007:Ppat UTSW 5 77,076,525 (GRCm39) intron probably benign
R5010:Ppat UTSW 5 77,076,525 (GRCm39) intron probably benign
R5325:Ppat UTSW 5 77,076,269 (GRCm39) intron probably benign
R5982:Ppat UTSW 5 77,063,112 (GRCm39) missense probably benign
R6209:Ppat UTSW 5 77,065,993 (GRCm39) missense probably benign 0.00
R6225:Ppat UTSW 5 77,070,202 (GRCm39) missense probably damaging 0.99
R6287:Ppat UTSW 5 77,066,061 (GRCm39) nonsense probably null
R7367:Ppat UTSW 5 77,067,711 (GRCm39) nonsense probably null
R7426:Ppat UTSW 5 77,063,826 (GRCm39) missense probably damaging 0.99
R7945:Ppat UTSW 5 77,063,238 (GRCm39) missense probably benign 0.01
R8047:Ppat UTSW 5 77,073,557 (GRCm39) missense probably damaging 1.00
R9343:Ppat UTSW 5 77,063,884 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-06-20