Incidental Mutation 'R5325:Ppat'
ID 421880
Institutional Source Beutler Lab
Gene Symbol Ppat
Ensembl Gene ENSMUSG00000029246
Gene Name phosphoribosyl pyrophosphate amidotransferase
Synonyms 5730454C12Rik
MMRRC Submission 042908-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R5325 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 77061096-77099425 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 77076269 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SCOP:d1ecfa2 12 43 6e-3 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (55/56)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 T A 11: 105,896,079 (GRCm39) M675K probably benign Het
Ccdc186 A T 19: 56,801,613 (GRCm39) I168N probably damaging Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cep83 A G 10: 94,573,768 (GRCm39) E219G probably damaging Het
Ctsj T C 13: 61,151,839 (GRCm39) T73A possibly damaging Het
Ddr2 T A 1: 169,829,406 (GRCm39) T283S probably benign Het
Ehbp1 T A 11: 22,045,370 (GRCm39) D768V possibly damaging Het
Evpl T C 11: 116,112,191 (GRCm39) D1833G probably damaging Het
Exoc1 A G 5: 76,685,549 (GRCm39) N87S probably benign Het
Fam98b A C 2: 117,101,132 (GRCm39) I315L possibly damaging Het
Fancg A G 4: 43,006,564 (GRCm39) V330A probably damaging Het
Fbxo30 G A 10: 11,166,846 (GRCm39) V523I possibly damaging Het
Fbxw27 A G 9: 109,599,161 (GRCm39) C419R probably damaging Het
Flt3 C A 5: 147,312,459 (GRCm39) V161L probably benign Het
Fndc7 G A 3: 108,790,765 (GRCm39) T87I probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm6457 A T 18: 14,703,498 (GRCm39) noncoding transcript Het
Gpr63 T C 4: 25,007,294 (GRCm39) V6A probably benign Het
Grhl3 T A 4: 135,286,415 (GRCm39) K89* probably null Het
H2-M10.2 C A 17: 36,596,471 (GRCm39) V125L probably benign Het
Hrh4 C T 18: 13,155,054 (GRCm39) Q198* probably null Het
Lrch4 A G 5: 137,636,168 (GRCm39) E373G probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Noa1 A C 5: 77,452,042 (GRCm39) D547E probably damaging Het
Nr2e1 G A 10: 42,448,780 (GRCm39) R153W probably damaging Het
Nudt9 A C 5: 104,198,487 (GRCm39) M1L possibly damaging Het
Odf2 T A 2: 29,802,583 (GRCm39) D282E probably benign Het
Olfr908 A T 9: 38,427,454 (GRCm39) N42I probably damaging Het
Or13a25 C A 7: 140,247,705 (GRCm39) H168Q probably benign Het
Or6ae1 T A 7: 139,742,026 (GRCm39) Y279F probably damaging Het
Osbpl5 C G 7: 143,245,665 (GRCm39) A816P probably damaging Het
Pan2 T C 10: 128,153,503 (GRCm39) I924T possibly damaging Het
Rad50 T G 11: 53,583,690 (GRCm39) I364L probably benign Het
Rnf7l A G 10: 63,257,458 (GRCm39) S21P probably benign Het
Robo2 A G 16: 73,770,673 (GRCm39) I484T possibly damaging Het
Ryr2 A T 13: 11,705,249 (GRCm39) M2839K probably damaging Het
Sin3b A G 8: 73,477,154 (GRCm39) D807G probably damaging Het
Sirpb1a G A 3: 15,476,503 (GRCm39) T98I possibly damaging Het
Smim17 G A 7: 6,432,321 (GRCm39) V88M probably damaging Het
Spib T C 7: 44,177,505 (GRCm39) T229A probably damaging Het
St14 A T 9: 31,008,274 (GRCm39) probably null Het
Syne4 A T 7: 30,018,401 (GRCm39) Y381F probably damaging Het
Sytl1 T C 4: 132,988,382 (GRCm39) probably benign Het
Tnpo3 A C 6: 29,602,012 (GRCm39) probably benign Het
Trim12a T A 7: 103,953,413 (GRCm39) I233F probably damaging Het
Tspan1 T A 4: 116,021,536 (GRCm39) N82Y probably damaging Het
Vmn1r60 T A 7: 5,547,201 (GRCm39) M300L probably benign Het
Wdr17 G A 8: 55,112,716 (GRCm39) A788V possibly damaging Het
Wwtr1 A T 3: 57,482,658 (GRCm39) V63E probably benign Het
Ylpm1 A G 12: 85,060,735 (GRCm39) probably benign Het
Zfp956 T C 6: 47,928,012 (GRCm39) probably benign 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
R4301:Ppat UTSW 5 77,076,348 (GRCm39) intron probably benign
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
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
(F):5'- CCACAAGAGCCTGCTTATTTG -3'
(R):5'- GGGCATGCTTAACTGTCCTG -3'

Sequencing Primer
(F):5'- AAGTTACTCCCTTAGGCAGCTTGAAC -3'
(R):5'- AACTGTCCTGTATTCGTACTTGAG -3'
Posted On 2016-08-04