Mutagenetix > Incidental Mutation

Incidental Mutation 'R0734:Dhrs3'

68140

Institutional Source

Beutler Lab

Gene Symbol

Dhrs3

Ensembl Gene

ENSMUSG00000066026

Gene Name

dehydrogenase/reductase 3

Synonyms

dehydrogenase/reductase (SDR family) member 3, retSDR1, Rsdr1

MMRRC Submission

038915-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144619397-144654779 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 144653746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tryptophan at position 289 (S289W)

Ref Sequence

ENSEMBL: ENSMUSP00000122552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084184] [ENSMUST00000105744] [ENSMUST00000154208] [ENSMUST00000171001]

AlphaFold

O88876

Predicted Effect

probably benign
Transcript: ENSMUST00000084184

SMART Domains

Protein: ENSMUSP00000081200
Gene: ENSMUSG00000066026

Domain	Start	End	E-Value	Type
Pfam:adh_short	39	121	1.7e-19	PFAM
Pfam:KR	40	119	1.5e-16	PFAM
Pfam:Polysacc_synt_2	41	121	1.3e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105744
AA Change: S223W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101370
Gene: ENSMUSG00000066026
AA Change: S223W

Domain	Start	End	E-Value	Type
Pfam:adh_short	13	92	2.1e-18	PFAM
Pfam:KR	14	93	1.5e-15	PFAM
Pfam:Polysacc_synt_2	15	90	4.2e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000154208
AA Change: S289W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122552
Gene: ENSMUSG00000066026
AA Change: S289W

Domain	Start	End	E-Value	Type
Pfam:adh_short	39	233	7.8e-42	PFAM
Pfam:KR	40	213	2.3e-21	PFAM
Pfam:Polysacc_synt_2	41	132	2.8e-9	PFAM
Pfam:adh_short_C2	45	205	4.8e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171001
AA Change: S263W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126154
Gene: ENSMUSG00000066026
AA Change: S263W

Domain	Start	End	E-Value	Type
Pfam:adh_short	13	181	2.1e-34	PFAM
Pfam:KR	14	191	2.7e-21	PFAM
Pfam:Polysacc_synt_2	15	106	1.8e-9	PFAM
Pfam:Epimerase	15	124	2e-7	PFAM
Pfam:adh_short_C2	19	179	2e-14	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.0%
20x: 93.3%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Short-chain dehydrogenases/reductases (SDRs), such as DHRS3, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM, Jun 2009]
PHENOTYPE: Mice homozygous for a targeted mutation die before weaning age. Mice homozygous for a gene trap allele exhibit perinatal lethality, altered retinoid metabolism and heart, craniofacial and skeletal defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,668,198 (GRCm39)	S530T	probably benign	Het
Acer2	G	T	4: 86,835,796 (GRCm39)	K223N	probably benign	Het
Adam19	T	G	11: 46,018,230 (GRCm39)	C431G	probably damaging	Het
Adamts16	T	G	13: 70,886,600 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,344,500 (GRCm39)	E531V	probably benign	Het
Apaf1	A	T	10: 90,872,883 (GRCm39)	N720K	probably benign	Het
Atrnl1	T	A	19: 57,643,293 (GRCm39)	W394R	probably damaging	Het
Bcl6	T	C	16: 23,786,889 (GRCm39)	E634G	probably damaging	Het
Cfap65	T	A	1: 74,958,046 (GRCm39)	Y954F	probably damaging	Het
Cobl	A	G	11: 12,325,971 (GRCm39)	V168A	probably damaging	Het
Cped1	C	T	6: 22,085,040 (GRCm39)	P210S	probably damaging	Het
Crb1	C	T	1: 139,264,822 (GRCm39)	V199M	probably benign	Het
Cyp2j6	A	T	4: 96,412,081 (GRCm39)		probably benign	Het
Dido1	T	G	2: 180,301,835 (GRCm39)	Q2023P	probably benign	Het
Dlg4	G	A	11: 69,933,531 (GRCm39)	G550R	probably damaging	Het
Dnah12	C	A	14: 26,521,970 (GRCm39)	H1928N	probably benign	Het
Dthd1	A	C	5: 62,996,753 (GRCm39)		probably benign	Het
Erg	C	A	16: 95,170,884 (GRCm39)	G269C	possibly damaging	Het
Erich6	G	A	3: 58,536,809 (GRCm39)		probably benign	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fancc	T	C	13: 63,479,656 (GRCm39)	R300G	probably damaging	Het
Fcer1g	T	A	1: 171,058,748 (GRCm39)	K47*	probably null	Het
Flt4	A	G	11: 49,517,544 (GRCm39)	T289A	possibly damaging	Het
Gcnt2	T	A	13: 41,013,997 (GRCm39)	F56Y	probably benign	Het
Gpatch8	G	T	11: 102,372,226 (GRCm39)	S437R	unknown	Het
Grin2a	T	A	16: 9,397,475 (GRCm39)	I871F	possibly damaging	Het
Hsd17b4	T	C	18: 50,303,844 (GRCm39)	V439A	possibly damaging	Het
Hykk	A	T	9: 54,853,716 (GRCm39)	K346M	possibly damaging	Het
Ifi208	T	C	1: 173,510,901 (GRCm39)	L352S	probably damaging	Het
Ikzf1	T	C	11: 11,708,195 (GRCm39)	V110A	probably damaging	Het
Irak3	A	T	10: 119,981,542 (GRCm39)		probably benign	Het
Lamp5	T	A	2: 135,900,950 (GRCm39)	V50E	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrch3	C	T	16: 32,817,853 (GRCm39)	R570*	probably null	Het
Map1lc3a	T	C	2: 155,118,896 (GRCm39)	V20A	possibly damaging	Het
Map3k14	C	A	11: 103,117,826 (GRCm39)	K655N	probably benign	Het
Mark2	A	G	19: 7,263,346 (GRCm39)		probably benign	Het
Mbtd1	G	A	11: 93,813,972 (GRCm39)	G205D	probably damaging	Het
Med13	T	C	11: 86,192,063 (GRCm39)	T861A	probably benign	Het
Meltf	T	A	16: 31,700,776 (GRCm39)	Y99N	probably damaging	Het
Mex3d	G	A	10: 80,217,366 (GRCm39)	T617I	possibly damaging	Het
Muc13	G	A	16: 33,623,452 (GRCm39)	V249I	probably damaging	Het
Myo18a	C	A	11: 77,738,230 (GRCm39)	P1688Q	probably damaging	Het
Naaladl1	A	T	19: 6,162,904 (GRCm39)		probably null	Het
Ncoa3	T	A	2: 165,911,111 (GRCm39)		probably benign	Het
Nf2	T	C	11: 4,770,409 (GRCm39)	T67A	probably benign	Het
Nin	A	G	12: 70,076,887 (GRCm39)	V1056A	probably benign	Het
Or1p1	A	T	11: 74,179,772 (GRCm39)	Q100L	probably damaging	Het
Or4d10c	T	A	19: 12,065,483 (GRCm39)	R224S	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
P3h1	T	C	4: 119,095,885 (GRCm39)	L331P	probably damaging	Het
Pabpc4l	T	C	3: 46,401,408 (GRCm39)	K79E	possibly damaging	Het
Pam	T	A	1: 97,792,087 (GRCm39)	R445*	probably null	Het
Pcdhb6	T	C	18: 37,468,387 (GRCm39)	I436T	probably damaging	Het
Piezo2	A	G	18: 63,174,794 (GRCm39)	Y1987H	probably damaging	Het
Plch2	G	A	4: 155,080,740 (GRCm39)	T477I	probably damaging	Het
Postn	G	A	3: 54,270,136 (GRCm39)	G72R	probably damaging	Het
Proca1	G	A	11: 78,092,628 (GRCm39)		probably benign	Het
Psip1	T	A	4: 83,381,825 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 76,058,834 (GRCm39)	P153L	probably damaging	Het
Rgl1	T	C	1: 152,430,051 (GRCm39)	D242G	probably damaging	Het
Ric1	T	A	19: 29,572,218 (GRCm39)	I671K	possibly damaging	Het
Rxrg	T	A	1: 167,455,013 (GRCm39)	C199S	probably damaging	Het
Sec24c	A	C	14: 20,743,813 (GRCm39)	D1006A	probably damaging	Het
Sec63	A	G	10: 42,672,204 (GRCm39)	T173A	probably benign	Het
Sfxn5	T	C	6: 85,244,847 (GRCm39)		probably benign	Het
Spam1	A	G	6: 24,796,948 (GRCm39)	I300V	probably benign	Het
Spem1	A	G	11: 69,712,097 (GRCm39)	L189P	probably damaging	Het
Sptbn2	A	T	19: 4,798,151 (GRCm39)	R1959*	probably null	Het
Timeless	C	T	10: 128,085,929 (GRCm39)	R935W	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trim24	T	C	6: 37,896,400 (GRCm39)	Y286H	possibly damaging	Het
Ttyh2	A	G	11: 114,601,019 (GRCm39)		probably benign	Het
Zbtb21	C	T	16: 97,753,827 (GRCm39)	C180Y	probably damaging	Het
Zfp746	T	C	6: 48,041,833 (GRCm39)	T298A	probably damaging	Het

Other mutations in Dhrs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01730:Dhrs3	APN	4	144,646,042 (GRCm39)	missense	probably damaging	0.96
IGL02226:Dhrs3	APN	4	144,650,519 (GRCm39)	missense	possibly damaging	0.94
IGL02236:Dhrs3	APN	4	144,620,133 (GRCm39)	missense	probably benign
IGL02728:Dhrs3	APN	4	144,646,642 (GRCm39)	missense	probably damaging	0.98
R0079:Dhrs3	UTSW	4	144,646,618 (GRCm39)	missense	probably damaging	0.99
R1474:Dhrs3	UTSW	4	144,646,057 (GRCm39)	missense	probably damaging	1.00
R1632:Dhrs3	UTSW	4	144,620,116 (GRCm39)	missense	probably benign	0.30
R2010:Dhrs3	UTSW	4	144,653,758 (GRCm39)	missense	possibly damaging	0.49
R3162:Dhrs3	UTSW	4	144,646,016 (GRCm39)	missense	possibly damaging	0.80
R3162:Dhrs3	UTSW	4	144,646,016 (GRCm39)	missense	possibly damaging	0.80
R3176:Dhrs3	UTSW	4	144,650,510 (GRCm39)	missense	probably benign	0.00
R3276:Dhrs3	UTSW	4	144,650,510 (GRCm39)	missense	probably benign	0.00
R3440:Dhrs3	UTSW	4	144,646,628 (GRCm39)	missense	probably damaging	1.00
R3709:Dhrs3	UTSW	4	144,620,281 (GRCm39)	critical splice donor site	probably null
R3795:Dhrs3	UTSW	4	144,645,962 (GRCm39)	missense	probably damaging	0.99
R5571:Dhrs3	UTSW	4	144,620,134 (GRCm39)	missense	probably benign	0.34
R5943:Dhrs3	UTSW	4	144,646,546 (GRCm39)	missense	possibly damaging	0.88
R6457:Dhrs3	UTSW	4	144,646,522 (GRCm39)	missense	probably damaging	1.00
R7607:Dhrs3	UTSW	4	144,650,510 (GRCm39)	missense	probably benign	0.00
R8144:Dhrs3	UTSW	4	144,646,474 (GRCm39)	missense	probably damaging	1.00
R8371:Dhrs3	UTSW	4	144,645,953 (GRCm39)	critical splice acceptor site	probably null
R9029:Dhrs3	UTSW	4	144,653,755 (GRCm39)	missense	probably damaging	1.00
R9112:Dhrs3	UTSW	4	144,653,769 (GRCm39)	missense	probably benign	0.41
R9698:Dhrs3	UTSW	4	144,646,508 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TGGATGCACACTGGATGCTGAC -3'
(R):5'- TGACCTGGGGAGCTGCAAAATC -3'

Sequencing Primer
(F):5'- GATGCTGACAGTGCAACTCTC -3'
(R):5'- GGAGCTGCAAAATCTTCCCTG -3'

Posted On

2013-09-03