|Institutional Source||Beutler Lab|
|Gene Name||apolipoprotein H|
|Synonyms||beta-2-GPI, beta-2-glycoprotein 1, B2GPI|
|Is this an essential gene?||Possibly non essential (E-score: 0.477)|
|Stock #||R4789 (G1)|
|Chromosomal Location||108343354-108414396 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 108409238 bp|
|Amino Acid Change||Tyrosine to Asparagine at position 238 (Y238N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000049 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000049] [ENSMUST00000152958]|
|Predicted Effect||probably damaging
AA Change: Y238N
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: Y238N
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced viability and reduced thrombin production. Only 8% homozygous null animals are born from heterozygous intercrosses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Apoh||
(F):5'- ACTCACAGGATGCTCACTGG -3'
(R):5'- TGATTCTATGAGAGGAGTCTGAGC -3'
(F):5'- ACAGGATGCTCACTGGCTCTG -3'
(R):5'- AGTCTGAGCAATAAGTGGGTATTAG -3'