|Institutional Source||Beutler Lab|
|Gene Name||alkaline phosphatase 3, intestine, not Mn requiring|
|Is this an essential gene?||Probably non essential (E-score: 0.114)|
|Stock #||R6945 (G1)|
|Chromosomal Location||87124973-87127912 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 87125631 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 102 (Y102C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037497 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044878]|
|Predicted Effect||probably damaging
AA Change: Y102C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y102C
|Meta Mutation Damage Score||0.9615|
|Coding Region Coverage||
|Validation Efficiency||96% (51/53)|
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'- GTCATCTAGGACCTGAGACACC -3'
(R):5'- AAGGTCAGGGTGAGACATCC -3'
(F):5'- TGAGACACCCCTAGCCATGG -3'
(R):5'- GACATCCAGTCCCCTAGGCTTG -3'