Incidental Mutation 'R3782:Hpgd'
ID 272086
Institutional Source Beutler Lab
Gene Symbol Hpgd
Ensembl Gene ENSMUSG00000031613
Gene Name hydroxyprostaglandin dehydrogenase 15 (NAD)
Synonyms 15-PGDH
MMRRC Submission 040751-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3782 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 56747620-56774078 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56751453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 94 (V94M)
Ref Sequence ENSEMBL: ENSMUSP00000034026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034026]
AlphaFold Q8VCC1
Predicted Effect probably damaging
Transcript: ENSMUST00000034026
AA Change: V94M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034026
Gene: ENSMUSG00000031613
AA Change: V94M

DomainStartEndE-ValueType
Pfam:KR 6 175 6.6e-11 PFAM
Pfam:adh_short 6 199 1.7e-59 PFAM
Pfam:adh_short_C2 12 252 1.3e-18 PFAM
Meta Mutation Damage Score 0.3364 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 100% (42/42)
MGI Phenotype 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
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp2 T A 5: 143,843,517 (GRCm39) K24N possibly damaging Het
Atf6 A T 1: 170,622,336 (GRCm39) Y428* probably null Het
BC034090 T C 1: 155,102,024 (GRCm39) E80G probably damaging Het
Calcr T C 6: 3,700,193 (GRCm39) T263A possibly damaging Het
Cdh20 T A 1: 109,976,734 (GRCm39) V133E probably benign Het
Cpsf3 A C 12: 21,350,067 (GRCm39) E262A possibly damaging Het
Ddx5 T C 11: 106,675,346 (GRCm39) I330V probably benign Het
Dlg5 A G 14: 24,240,378 (GRCm39) probably benign Het
Enam A T 5: 88,650,674 (GRCm39) S653C probably damaging Het
Fndc3b A T 3: 27,514,135 (GRCm39) V682D possibly damaging Het
Guf1 A T 5: 69,724,495 (GRCm39) M396L probably benign Het
H2-Q10 A G 17: 35,781,915 (GRCm39) Y179C possibly damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Ktn1 G A 14: 47,943,860 (GRCm39) probably benign Het
Lama5 T G 2: 179,836,356 (GRCm39) H1165P possibly damaging Het
Lrrfip1 A G 1: 91,039,911 (GRCm39) T205A possibly damaging Het
Mcm7 G A 5: 138,162,998 (GRCm39) R385W probably damaging Het
Mgat4c A G 10: 102,224,782 (GRCm39) E332G probably benign Het
Mpp7 A T 18: 7,351,085 (GRCm39) H537Q probably damaging Het
Mx1 T C 16: 97,253,195 (GRCm39) D380G possibly damaging Het
Nckap5 T A 1: 125,952,811 (GRCm39) Q1183L possibly damaging Het
Nkx1-2 A G 7: 132,199,161 (GRCm39) V200A probably damaging Het
Nr3c2 T A 8: 77,812,313 (GRCm39) probably null Het
Nsmce1 C T 7: 125,085,549 (GRCm39) V47I probably benign Het
Nudt3 A G 17: 27,799,782 (GRCm39) S134P possibly damaging Het
Or1e26 C A 11: 73,479,839 (GRCm39) G242C probably damaging Het
Or1e26 A T 11: 73,480,194 (GRCm39) Y123* probably null Het
Or5g9 G A 2: 85,552,040 (GRCm39) C97Y probably damaging Het
Pcnx1 A G 12: 82,042,892 (GRCm39) T2325A probably benign Het
Phactr4 A T 4: 132,095,178 (GRCm39) probably null Het
Rnf7l T A 10: 63,257,472 (GRCm39) H16L probably benign Het
Serpinb6d T A 13: 33,848,097 (GRCm39) D20E probably benign Het
Spta1 A T 1: 174,035,880 (GRCm39) Y1062F probably damaging Het
Ssc5d A G 7: 4,945,790 (GRCm39) T941A probably benign Het
Taf11 A G 17: 28,122,167 (GRCm39) probably benign Het
Tax1bp1 A G 6: 52,716,533 (GRCm39) H286R probably damaging Het
Tmem62 T A 2: 120,807,948 (GRCm39) W57R probably damaging Het
Vmn2r111 T C 17: 22,790,301 (GRCm39) Y235C possibly damaging Het
Vmn2r22 T A 6: 123,627,591 (GRCm39) K2* probably null Het
Vmn2r74 A G 7: 85,605,322 (GRCm39) V442A probably benign Het
Other mutations in Hpgd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01993:Hpgd APN 8 56,772,097 (GRCm39) missense probably benign 0.04
R0703:Hpgd UTSW 8 56,748,074 (GRCm39) missense probably damaging 1.00
R0705:Hpgd UTSW 8 56,748,074 (GRCm39) missense probably damaging 1.00
R1138:Hpgd UTSW 8 56,760,712 (GRCm39) missense probably benign 0.00
R2081:Hpgd UTSW 8 56,760,677 (GRCm39) missense probably benign
R3177:Hpgd UTSW 8 56,751,448 (GRCm39) missense probably damaging 1.00
R3277:Hpgd UTSW 8 56,751,448 (GRCm39) missense probably damaging 1.00
R4774:Hpgd UTSW 8 56,751,454 (GRCm39) missense probably damaging 1.00
R4874:Hpgd UTSW 8 56,770,838 (GRCm39) missense possibly damaging 0.78
R5501:Hpgd UTSW 8 56,751,391 (GRCm39) missense probably benign 0.04
R5828:Hpgd UTSW 8 56,772,106 (GRCm39) missense probably benign 0.10
R5846:Hpgd UTSW 8 56,760,702 (GRCm39) missense possibly damaging 0.90
R6136:Hpgd UTSW 8 56,747,987 (GRCm39) missense probably damaging 1.00
R7252:Hpgd UTSW 8 56,751,461 (GRCm39) missense probably damaging 1.00
R8841:Hpgd UTSW 8 56,760,709 (GRCm39) missense probably damaging 1.00
R9629:Hpgd UTSW 8 56,751,419 (GRCm39) missense
R9659:Hpgd UTSW 8 56,772,075 (GRCm39) missense probably damaging 1.00
R9731:Hpgd UTSW 8 56,751,391 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CGCAACCTAAATTCAACCTCTAGTG -3'
(R):5'- GGCCATTTGGGTTGAAAATGC -3'

Sequencing Primer
(F):5'- GTTTCAGTGCATAGACGGA -3'
(R):5'- GGTTGAAAATGCACTGAACTCTGC -3'
Posted On 2015-03-25