|Institutional Source||Beutler Lab|
|Gene Name||phosphoribosyl pyrophosphate amidotransferase|
|Is this an essential gene?||Probably essential (E-score: 0.962)|
|Stock #||R3434 (G1)|
|Chromosomal Location||76913249-76951578 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 76918065 bp|
|Amino Acid Change||Isoleucine to Threonine at position 402 (I402T)|
|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: I402T
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: I402T
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.182|
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
|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'- GAGTAGTTAGCACATGTTTTCCC -3'
(R):5'- GGCCAATATTGCTACTAATGTGC -3'
(F):5'- CTATTGCTGCCCAACTATCATAGAG -3'
(R):5'- GATTTCCCCTCCATCAGTGTGGG -3'