|Institutional Source||Beutler Lab|
|Gene Name||alkaline phosphatase 3, intestine, not Mn requiring|
|Is this an essential gene?||Probably non essential (E-score: 0.132)|
|Stock #||R5999 (G1)|
|Chromosomal Location||87124973-87127912 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 87127541 bp|
|Amino Acid Change||Tyrosine to Asparagine at position 437 (Y437N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037497 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044878]|
|Predicted Effect||probably damaging
AA Change: Y437N
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: Y437N
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.4459|
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for disruption of this gene show no gross abnormalities in appearance, behavior or fertility. They do display accelerated lipid absorption on a high fat diet leading to elevated plasma triglycerides and increased weight gain. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Akp3||
(F):5'- GCAGGAAAACGTGTCCCTCTTC -3'
(R):5'- GTCTGGCTTTCATCTGCAGG -3'
(F):5'- TCAATGCTCTGGACGGCAAG -3'
(R):5'- CTTTCATCTGCAGGGGGTG -3'