|Institutional Source||Beutler Lab|
|Gene Name||5' nucleotidase, ecto|
|Synonyms||ecto-5'-nucleotidase, CD73, Nt5, 2210401F01Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7003 (G1)|
|Chromosomal Location||88327197-88372092 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 88364752 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 347 (Y347C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034992 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034992]|
|Predicted Effect||probably damaging
AA Change: Y347C
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y347C
|Coding Region Coverage||
FUNCTION: This gene encodes a membrane-bound nucleotidase that hydrolyzes extracellular nucleoside monophosphates. The encoded preproprotein undergoes proteolytic processing to generate to a functional, homodimeric enzyme that preferentially uses adenosine monophosphate as a substrate to generate free adenosine. Mice lacking the encoded protein exhibit a significantly reduced fall in stop flow pressure and superficial nephron glomerular filtration rate in response to a saturating increase of tubular perfusion flow. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mice for one allele are viable and fertile with increased circulating alkaline phosphatase and impaired tubuloglomerular feedback regulation. Homozygous null mice for a second allele display increased vascular permeability especially under hypoxic conditions. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nt5e||
(F):5'- AGATGTGAGCACCGCAAAGC -3'
(R):5'- CTTCTGTCTGGGCACAAAATG -3'
(F):5'- GGAAGCCTGGCAAAACTCCATTTC -3'
(R):5'- AATGTGCCAAAGTCCCTAATTCTGC -3'