Mutagenetix > Incidental Mutation

Incidental Mutation 'R5846:Hpgd'

453627

Institutional Source

Beutler Lab

Gene Symbol

Hpgd

Ensembl Gene

ENSMUSG00000031613

Gene Name

hydroxyprostaglandin dehydrogenase 15 (NAD)

Synonyms

15-PGDH

MMRRC Submission

044064-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56747620-56774078 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56760702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 133 (I133N)

Ref Sequence

ENSEMBL: ENSMUSP00000034026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034026]

AlphaFold

Q8VCC1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034026
AA Change: I133N

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034026
Gene: ENSMUSG00000031613
AA Change: I133N

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

Meta Mutation Damage Score

0.9407

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,562,377 (GRCm39)	S335P	unknown	Het
Ace3	A	T	11: 105,889,188 (GRCm39)	I473F	probably benign	Het
Adcy2	T	A	13: 68,886,707 (GRCm39)	N281Y	probably damaging	Het
Adgra1	T	A	7: 139,455,196 (GRCm39)	W275R	probably damaging	Het
Apmap	T	C	2: 150,450,341 (GRCm39)	D20G	probably damaging	Het
Arap2	T	C	5: 62,807,116 (GRCm39)	T1184A	probably damaging	Het
Atp13a2	T	C	4: 140,722,907 (GRCm39)	V303A	possibly damaging	Het
BC004004	A	T	17: 29,501,282 (GRCm39)		probably benign	Het
C1s1	G	A	6: 124,517,912 (GRCm39)	P23S	possibly damaging	Het
C1s2	T	A	6: 124,608,123 (GRCm39)	N197Y	probably damaging	Het
Camsap3	A	G	8: 3,653,980 (GRCm39)	H539R	probably damaging	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Cct4	T	C	11: 22,951,354 (GRCm39)		probably benign	Het
Chrm2	A	T	6: 36,500,385 (GRCm39)	T81S	probably damaging	Het
Dnaaf3	A	T	7: 4,526,686 (GRCm39)	S464T	possibly damaging	Het
Dnah10	T	A	5: 124,900,437 (GRCm39)	I3898N	possibly damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dnajc13	T	C	9: 104,067,584 (GRCm39)	K1187E	probably damaging	Het
Dock4	A	T	12: 40,867,735 (GRCm39)	D1437V	probably damaging	Het
Dst	C	T	1: 34,234,942 (GRCm39)	Q3674*	probably null	Het
Eef1a2	T	C	2: 180,794,776 (GRCm39)	Y141C	probably damaging	Het
Fads3	G	T	19: 10,030,397 (GRCm39)	Q178H	probably null	Het
Fbxw22	T	A	9: 109,215,829 (GRCm39)	M140L	probably benign	Het
Fndc7	A	G	3: 108,788,707 (GRCm39)	I178T	probably damaging	Het
Foxd1	T	C	13: 98,491,549 (GRCm39)	M141T	probably damaging	Het
H4c2	T	C	13: 23,941,215 (GRCm39)	V71A	possibly damaging	Het
Havcr2	T	C	11: 46,360,343 (GRCm39)	I141T	probably benign	Het
Hectd1	A	C	12: 51,820,618 (GRCm39)	N1190K	probably damaging	Het
Hook3	T	A	8: 26,534,355 (GRCm39)		probably benign	Het
Itih2	T	C	2: 10,102,714 (GRCm39)	R807G	probably benign	Het
Klhl35	G	A	7: 99,122,094 (GRCm39)	G65D	probably damaging	Het
Lrch4	C	G	5: 137,631,919 (GRCm39)	C48W	probably damaging	Het
Mafa	A	G	15: 75,619,627 (GRCm39)	S49P	probably benign	Het
Magi1	A	G	6: 93,662,584 (GRCm39)	V1170A	probably damaging	Het
Mprip	A	T	11: 59,649,380 (GRCm39)	K1028M	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Numb	G	T	12: 83,923,521 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,929,435 (GRCm39)	L6063P	probably damaging	Het
Or2y6	A	G	11: 52,103,881 (GRCm39)	*312Q	probably null	Het
Or6c6c	A	T	10: 129,540,756 (GRCm39)	N3I	probably damaging	Het
P3h3	A	T	6: 124,834,157 (GRCm39)		probably null	Het
Pi4k2a	A	G	19: 42,103,477 (GRCm39)	D329G	probably benign	Het
Ptch1	T	C	13: 63,713,268 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,376,754 (GRCm39)	V169A	probably benign	Het
Sdk1	T	C	5: 142,100,148 (GRCm39)	Y1393H	probably damaging	Het
Slc18a3	T	A	14: 32,185,880 (GRCm39)	M168L	probably benign	Het
Smurf1	T	C	5: 144,816,190 (GRCm39)	T722A	probably damaging	Het
Ssr2	C	T	3: 88,488,379 (GRCm39)	P85L	probably damaging	Het
Syne2	G	T	12: 76,074,898 (GRCm39)	A4614S	probably benign	Het
Tgfbr3	C	A	5: 107,288,521 (GRCm39)	G380V	possibly damaging	Het
Tk1	G	T	11: 117,706,748 (GRCm39)		probably benign	Het
Tmem245	A	T	4: 56,903,241 (GRCm39)	S610T	probably benign	Het
Tmtc2	A	G	10: 105,107,302 (GRCm39)		probably benign	Het
Trim30b	A	G	7: 104,006,578 (GRCm39)	Y93H	possibly damaging	Het
Tsks	A	G	7: 44,593,412 (GRCm39)	D126G	probably damaging	Het
Ttn	T	A	2: 76,733,812 (GRCm39)		probably benign	Het
Usp15	A	G	10: 123,017,647 (GRCm39)	W50R	probably damaging	Het
Vmn2r55	A	T	7: 12,404,492 (GRCm39)	F304I	probably benign	Het
Xirp2	T	A	2: 67,339,587 (GRCm39)	D609E	probably damaging	Het
Zan	C	T	5: 137,392,638 (GRCm39)		probably null	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
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
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
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'- CCCTATATGCCTGGCTTAGC -3'
(R):5'- AAGCAATACCCAGATGAGTATCAG -3'

Sequencing Primer
(F):5'- ATATGCCTGGCTTAGCAACGTC -3'
(R):5'- CCCAGATGAGTATCAGATGCATTG -3'

Posted On

2017-02-10