|Institutional Source||Beutler Lab|
|Gene Name||nudix (nucleoside diphosphate linked moiety X)-type motif 2|
|Is this an essential gene?||Possibly essential (E-score: 0.544)|
|Stock #||R7319 (G1)|
|Chromosomal Location||41465151-41480926 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 41477575 bp|
|Amino Acid Change||Methionine to Leucine at position 19 (M19L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030154 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030154]|
|Predicted Effect||probably benign
AA Change: M19L
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: M19L
|Coding Region Coverage||
|Validation Efficiency||96% (79/82)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nudt2||
(F):5'- TGTGGGTTGTAAGATCACGATTAGC -3'
(R):5'- GGATTAAGTGCTCCTGCCTC -3'
(F):5'- GTAAGATCACGATTAGCCTGTCC -3'
(R):5'- TCTTCTTGCTGTACAGGCAC -3'