|Institutional Source||Beutler Lab|
|Gene Name||hydroxyprostaglandin dehydrogenase 15 (NAD)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4774 (G1)|
|Chromosomal Location||56294585-56321043 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 56298419 bp|
|Amino Acid Change||Valine to Alanine at position 94 (V94A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034026 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034026]|
|Predicted Effect||probably damaging
AA Change: V94A
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: V94A
|Meta Mutation Damage Score||0.102|
|Coding Region Coverage||
|Validation Efficiency||98% (97/99)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflammation. Mutations in this gene result in primary autosomal recessive hypertrophic osteoarthropathy and cranioosteoarthropathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutation of this gene results failure of the ductus arteriosus to close and perinatal lethality. Mutant animals die within 12-48 hours after birth due to congestive heart failure. Mice homozygous for a hypomorphic allele exhibit preterm labor. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hpgd||
(F):5'- GCAACCTAAATTCAACCTCTAGTGC -3'
(R):5'- AATGCACTGAACTCTGCTTCTC -3'
(F):5'- CAGCAAATGGTTTCAGTGC -3'
(R):5'- TCTCTAACCCTTTAAGAGAGATTCTC -3'