Incidental Mutation 'R5501:Hpgd'
ID 501067
Institutional Source Beutler Lab
Gene Symbol Hpgd
Ensembl Gene ENSMUSG00000031613
Gene Name hydroxyprostaglandin dehydrogenase 15 (NAD)
Synonyms 15-PGDH
MMRRC Submission 043062-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5501 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 56747620-56774078 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56751391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 73 (D73V)
Ref Sequence ENSEMBL: ENSMUSP00000034026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034026]
AlphaFold Q8VCC1
Predicted Effect probably benign
Transcript: ENSMUST00000034026
AA Change: D73V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000034026
Gene: ENSMUSG00000031613
AA Change: D73V

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
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.3%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A C 8: 44,022,941 (GRCm39) L183* probably null Het
Alox12e G T 11: 70,207,055 (GRCm39) Q584K probably benign Het
Atp1a4 A G 1: 172,074,399 (GRCm39) S285P probably damaging Het
Cdt1 C T 8: 123,297,239 (GRCm39) R311W probably damaging Het
Col25a1 A G 3: 130,389,312 (GRCm39) T632A probably benign Het
Coro6 T C 11: 77,358,622 (GRCm39) F227S probably damaging Het
Diras2 C T 13: 52,661,786 (GRCm39) V174M probably benign Het
Dop1a A G 9: 86,389,783 (GRCm39) D569G probably benign Het
Dync1li2 A G 8: 105,167,104 (GRCm39) probably null Het
Dysf T C 6: 84,064,800 (GRCm39) V508A probably damaging Het
Edem1 T C 6: 108,820,061 (GRCm39) probably null Het
Eef2k A G 7: 120,488,471 (GRCm39) D452G probably benign Het
Espl1 A G 15: 102,225,565 (GRCm39) R1539G possibly damaging Het
Fat4 A G 3: 38,941,364 (GRCm39) S86G probably benign Het
Ltb4r1 A G 14: 56,005,539 (GRCm39) N281D probably damaging Het
Map7 T C 10: 20,151,948 (GRCm39) S638P unknown Het
Mical1 G A 10: 41,362,075 (GRCm39) A934T probably benign Het
Micu3 C A 8: 40,807,341 (GRCm39) probably null Het
Mmp24 T A 2: 155,640,056 (GRCm39) Y129N probably damaging Het
Mras A T 9: 99,293,599 (GRCm39) Y14N probably damaging Het
Msmo1 A T 8: 65,175,523 (GRCm39) I169N probably damaging Het
Mtrr G T 13: 68,727,766 (GRCm39) T60K probably damaging Het
Or4c113 A T 2: 88,885,230 (GRCm39) L180* probably null Het
Or5p6 G T 7: 107,631,360 (GRCm39) Y63* probably null Het
Or7g30 T A 9: 19,352,290 (GRCm39) I27N possibly damaging Het
Pam A T 1: 97,768,090 (GRCm39) C8* probably null Het
Phrf1 T G 7: 140,839,834 (GRCm39) S1169A possibly damaging Het
Pkd1l2 T C 8: 117,792,569 (GRCm39) T408A probably damaging Het
Plch1 G T 3: 63,615,162 (GRCm39) Q778K probably damaging Het
Ppp1r3a A G 6: 14,719,417 (GRCm39) V499A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ryr3 C A 2: 112,492,849 (GRCm39) S3736I possibly damaging Het
Serpinb13 T C 1: 106,909,915 (GRCm39) F11L possibly damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Smcp A G 3: 92,491,731 (GRCm39) C39R unknown Het
Sox9 T A 11: 112,674,685 (GRCm39) L161Q probably damaging Het
Tanc2 T C 11: 105,805,811 (GRCm39) probably null Het
Tlr3 C T 8: 45,851,851 (GRCm39) D349N possibly damaging Het
Tmem131l G T 3: 83,833,435 (GRCm39) N809K probably damaging Het
Tyk2 T C 9: 21,032,908 (GRCm39) Y285C probably damaging Het
Usp15 T A 10: 123,011,804 (GRCm39) N98Y probably damaging 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
R3782:Hpgd UTSW 8 56,751,453 (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
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'- GACTGGAGTATAGGAGAGCTCTTTG -3'
(R):5'- AAAATGCACTGAACTCTGCTTC -3'

Sequencing Primer
(F):5'- GAGCTCTTTGATTAGAAGACGCAACC -3'
(R):5'- TCTCTAACCCTTTAAGAGAGATTCTC -3'
Posted On 2017-12-01