Incidental Mutation 'R1138:Hpgd'
ID |
95296 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hpgd
|
Ensembl Gene |
ENSMUSG00000031613 |
Gene Name |
hydroxyprostaglandin dehydrogenase 15 (NAD) |
Synonyms |
15-PGDH |
MMRRC Submission |
039211-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1138 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
56747620-56774078 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 56760712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 136
(M136I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034026]
|
AlphaFold |
Q8VCC1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034026
AA Change: M136I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000034026 Gene: ENSMUSG00000031613 AA Change: M136I
Domain | Start | End | E-Value | Type |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209271
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,967,497 (GRCm39) |
N974K |
probably benign |
Het |
Brd8dc |
C |
T |
18: 34,713,297 (GRCm39) |
V258I |
probably benign |
Het |
Bub1b |
C |
T |
2: 118,453,570 (GRCm39) |
T467I |
probably benign |
Het |
Bzw1 |
T |
C |
1: 58,440,545 (GRCm39) |
Y173H |
probably damaging |
Het |
Chl1 |
A |
G |
6: 103,670,140 (GRCm39) |
D526G |
probably benign |
Het |
Dnajc22 |
AGACACT |
A |
15: 99,002,308 (GRCm39) |
|
probably benign |
Het |
Dstyk |
A |
G |
1: 132,391,224 (GRCm39) |
N920S |
probably benign |
Het |
Glra3 |
A |
G |
8: 56,542,011 (GRCm39) |
|
probably null |
Het |
Igfbp2 |
A |
G |
1: 72,888,257 (GRCm39) |
D133G |
probably damaging |
Het |
Lin54 |
A |
G |
5: 100,591,993 (GRCm39) |
M642T |
probably damaging |
Het |
Map7d1 |
T |
C |
4: 126,135,912 (GRCm39) |
T99A |
possibly damaging |
Het |
Mfsd4b5 |
C |
T |
10: 39,851,150 (GRCm39) |
C35Y |
probably damaging |
Het |
Mycbp2 |
G |
T |
14: 103,412,262 (GRCm39) |
N2570K |
possibly damaging |
Het |
Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
Oacyl |
T |
A |
18: 65,858,521 (GRCm39) |
L209Q |
probably damaging |
Het |
Or4c125 |
T |
C |
2: 89,170,434 (GRCm39) |
I71V |
probably benign |
Het |
Pkd1 |
C |
A |
17: 24,805,006 (GRCm39) |
N3218K |
probably damaging |
Het |
Scyl3 |
A |
G |
1: 163,761,234 (GRCm39) |
N46S |
possibly damaging |
Het |
Sh2d3c |
G |
T |
2: 32,639,417 (GRCm39) |
R349L |
probably benign |
Het |
Siae |
G |
A |
9: 37,553,988 (GRCm39) |
R366H |
probably damaging |
Het |
Tmem108 |
T |
C |
9: 103,376,168 (GRCm39) |
N427S |
possibly damaging |
Het |
|
Other mutations in Hpgd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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'- CTCCCTATATGCCTGGCTTAGCAAC -3'
(R):5'- TCACAAGGAAGTAGAGGCCACTTCA -3'
Sequencing Primer
(F):5'- CTGGCTTAGCAACGTCTTTG -3'
(R):5'- acacacacaaacacacacac -3'
|
Posted On |
2014-01-05 |