|Institutional Source||Beutler Lab|
|Gene Name||phosphoribosyl pyrophosphate amidotransferase|
|Is this an essential gene?||Probably essential (E-score: 0.965)|
|Stock #||R4422 (G1)|
|Chromosomal Location||76913249-76951578 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 76915214 bp|
|Amino Acid Change||Tryptophan to Arginine at position 517 (W517R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000120632 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000140076] [ENSMUST00000155272]|
|Predicted Effect||noncoding transcript
|Predicted Effect||probably damaging
AA Change: W517R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: W517R
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6552|
|Coding Region Coverage||
|Validation Efficiency||96% (67/70)|
|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||
|Other mutations in Ppat||
(F):5'- GCCTTCTCTCGAGTGAAAAGTC -3'
(R):5'- TCTGTCAGTGGAAGGACTGG -3'
(F):5'- AATGAATCCTCAGATGCTGCATTCC -3'
(R):5'- GACTGGTTTCATCTGTGCAACAAG -3'