Mutagenetix > Incidental Mutation

Incidental Mutation 'R2081:Hpgd'

229489

Institutional Source

Beutler Lab

Gene Symbol

Hpgd

Ensembl Gene

ENSMUSG00000031613

Gene Name

hydroxyprostaglandin dehydrogenase 15 (NAD)

Synonyms

15-PGDH

MMRRC Submission

040086-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2081 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56747620-56774078 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 56760677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 125 (Q125K)

Ref Sequence

ENSEMBL: ENSMUSP00000034026 (fasta)

Gene Model

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

AlphaFold

Q8VCC1

Predicted Effect

probably benign
Transcript: ENSMUST00000034026
AA Change: Q125K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034026
Gene: ENSMUSG00000031613
AA Change: Q125K

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,211,085 (GRCm39)	T28A	possibly damaging	Het
Actl11	G	A	9: 107,807,396 (GRCm39)	G573D	probably benign	Het
Adam39	T	A	8: 41,279,879 (GRCm39)	*757K	probably null	Het
Agpat4	T	C	17: 12,370,771 (GRCm39)	I38T	possibly damaging	Het
Ap3d1	A	C	10: 80,568,770 (GRCm39)	I36S	probably damaging	Het
Arhgap45	T	C	10: 79,863,508 (GRCm39)	F784L	probably damaging	Het
Atg5lrt	T	C	10: 95,972,601 (GRCm39)	I46T	possibly damaging	Het
Atp10b	T	A	11: 43,092,955 (GRCm39)	I430N	probably damaging	Het
Atrip	T	A	9: 108,901,807 (GRCm39)		probably null	Het
C2cd4b	G	T	9: 67,667,859 (GRCm39)	R285L	probably damaging	Het
Camta1	T	C	4: 151,228,699 (GRCm39)	E711G	probably benign	Het
Clcn6	T	C	4: 148,095,525 (GRCm39)	Y685C	probably damaging	Het
Col18a1	T	A	10: 76,890,019 (GRCm39)	D1447V	probably damaging	Het
Crispld1	T	A	1: 17,832,403 (GRCm39)	V463D	probably damaging	Het
Crybg2	T	G	4: 133,816,131 (GRCm39)	F1612V	possibly damaging	Het
Dclk1	T	C	3: 55,429,346 (GRCm39)		probably null	Het
Ddx46	G	T	13: 55,821,829 (GRCm39)	V834L	probably benign	Het
Dnah10	A	G	5: 124,852,045 (GRCm39)	D1734G	possibly damaging	Het
Dpep1	T	C	8: 123,926,117 (GRCm39)	V152A	probably damaging	Het
Ect2l	T	C	10: 18,041,275 (GRCm39)	E301G	probably damaging	Het
Elf3	C	T	1: 135,184,814 (GRCm39)	C124Y	probably benign	Het
Eno2	A	G	6: 124,740,088 (GRCm39)	V316A	probably damaging	Het
Erap1	A	G	13: 74,823,426 (GRCm39)	E820G	possibly damaging	Het
Evpl	A	T	11: 116,125,092 (GRCm39)	H123Q	probably damaging	Het
Fat2	T	A	11: 55,200,503 (GRCm39)	Y857F	possibly damaging	Het
Fbrsl1	T	A	5: 110,519,491 (GRCm39)		probably null	Het
Fbxw7	A	G	3: 84,881,820 (GRCm39)	D432G	probably damaging	Het
Flt1	A	T	5: 147,576,232 (GRCm39)	L592Q	probably damaging	Het
Gm14496	T	A	2: 181,642,272 (GRCm39)	C648S	probably damaging	Het
Gm5150	A	T	3: 16,045,109 (GRCm39)	S39T	probably benign	Het
Gse1	C	A	8: 121,293,219 (GRCm39)	P177Q	probably damaging	Het
Heatr4	G	A	12: 84,027,096 (GRCm39)	R54W	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Mast2	A	T	4: 116,187,671 (GRCm39)		probably null	Het
Mfsd11	A	G	11: 116,752,381 (GRCm39)	T177A	possibly damaging	Het
Mlx	T	C	11: 100,978,257 (GRCm39)	S36P	probably benign	Het
Mlxipl	T	A	5: 135,142,492 (GRCm39)	V102D	probably damaging	Het
Mms22l	T	C	4: 24,536,150 (GRCm39)	Y540H	probably damaging	Het
Msc	T	C	1: 14,825,941 (GRCm39)	D11G	probably benign	Het
Muc4	C	G	16: 32,574,020 (GRCm39)	S699R	probably benign	Het
Nckap1l	T	C	15: 103,405,881 (GRCm39)	S1106P	probably damaging	Het
Obscn	T	C	11: 58,925,008 (GRCm39)	E5703G	possibly damaging	Het
Or2ag1	A	G	7: 106,313,405 (GRCm39)	M161T	probably benign	Het
Pabpn1	A	G	14: 55,133,115 (GRCm39)	K38E	probably damaging	Het
Padi3	A	T	4: 140,526,290 (GRCm39)	L141Q	probably damaging	Het
Pakap	G	A	4: 57,855,927 (GRCm39)	E419K	possibly damaging	Het
Pde3b	A	G	7: 114,122,657 (GRCm39)	N742D	probably benign	Het
Pex1	T	A	5: 3,674,132 (GRCm39)		probably null	Het
Pkd2	T	C	5: 104,608,077 (GRCm39)	V192A	probably benign	Het
Ppp6r2	T	A	15: 89,166,332 (GRCm39)	M750K	probably benign	Het
Prdm15	A	T	16: 97,604,980 (GRCm39)	Y783*	probably null	Het
Prox2	T	A	12: 85,141,782 (GRCm39)	Q140H	probably damaging	Het
Psg27	A	T	7: 18,290,883 (GRCm39)	I440K	probably damaging	Het
Pzp	A	G	6: 128,496,383 (GRCm39)	M283T	probably benign	Het
Sec23a	G	A	12: 59,045,067 (GRCm39)	Q192*	probably null	Het
Sh2b1	A	G	7: 126,071,862 (GRCm39)	S108P	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tkfc	G	A	19: 10,574,742 (GRCm39)	A166V	probably damaging	Het
Tomm70a	T	C	16: 56,961,121 (GRCm39)	V358A	probably damaging	Het
Trim47	A	G	11: 115,997,239 (GRCm39)	F505S	probably damaging	Het
Tti2	T	C	8: 31,641,337 (GRCm39)	F154L	possibly damaging	Het
Ubap2l	C	T	3: 89,946,271 (GRCm39)	G111D	possibly damaging	Het
Usp9y	A	T	Y: 1,381,277 (GRCm39)	I848N	possibly damaging	Het
Veph1	T	C	3: 65,968,523 (GRCm39)	Y740C	probably damaging	Het
Vmn2r114	T	A	17: 23,510,083 (GRCm39)	H799L	possibly damaging	Het
Wdr31	T	A	4: 62,374,180 (GRCm39)	M270L	probably benign	Het
Zfp26	A	G	9: 20,347,913 (GRCm39)	S884P	probably benign	Het
Zswim6	T	A	13: 107,909,930 (GRCm39)		noncoding transcript	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
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'- GCGCTCATTGATCATTGAAGATC -3'
(R):5'- CCAGATGAGTATCAGATGCATTGTTC -3'

Sequencing Primer
(F):5'- GAAGATCTCCCTATATGCCTGG -3'
(R):5'- GAGTATCAGATGCATTGTTCAAAATG -3'

Posted On

2014-09-17