Mutagenetix > Incidental Mutations

Incidental Mutation 'R3276:Dhrs3'

258205

Institutional Source

Beutler Lab

Gene Symbol

Dhrs3

Ensembl Gene

ENSMUSG00000066026

Gene Name

dehydrogenase/reductase (SDR family) member 3

Synonyms

Rsdr1, retSDR1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144892827-144928209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144923940 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 219 (T219A)

Ref Sequence

ENSEMBL: ENSMUSP00000126154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084184] [ENSMUST00000105744] [ENSMUST00000142808] [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 benign
Transcript: ENSMUST00000105744
AA Change: T179A

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

SMART Domains

Protein: ENSMUSP00000101370
Gene: ENSMUSG00000066026
AA Change: T179A

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

noncoding transcript
Transcript: ENSMUST00000128926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133265

Predicted Effect

probably benign
Transcript: ENSMUST00000142808

SMART Domains

Protein: ENSMUSP00000122578
Gene: ENSMUSG00000066026

Domain	Start	End	E-Value	Type
Pfam:adh_short	13	146	6.1e-29	PFAM
Pfam:KR	14	139	5.9e-20	PFAM
Pfam:Polysacc_synt_2	15	109	4.2e-10	PFAM
Pfam:Epimerase	15	124	3.8e-8	PFAM
Pfam:adh_short_C2	19	146	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154208
AA Change: T245A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122552
Gene: ENSMUSG00000066026
AA Change: T245A

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 benign
Transcript: ENSMUST00000171001
AA Change: T219A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126154
Gene: ENSMUSG00000066026
AA Change: T219A

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

0.1021

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (47/49)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 86,506,866	R1269H	probably damaging	Het
Ace	A	G	11: 105,976,702	E164G	probably null	Het
Als2	A	T	1: 59,170,008	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,450,553	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Cdkn3	T	C	14: 46,771,477		probably benign	Het
Col16a1	A	G	4: 130,057,999	K72E	probably damaging	Het
Col6a5	G	A	9: 105,911,107	R1565*	probably null	Het
Col6a6	T	C	9: 105,786,230	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,625,850	N415D	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,561,239	F25L	probably benign	Het
Dhx58	A	G	11: 100,696,979	F584S	probably damaging	Het
Dmbt1	A	G	7: 131,088,071	T715A	probably benign	Het
Eogt	T	A	6: 97,131,394	I229F	probably benign	Het
Ern2	T	C	7: 122,180,964	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,558,522	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,537,122	Y346*	probably null	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Gm11492	T	C	11: 87,567,244	V148A	possibly damaging	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Golga3	T	C	5: 110,201,998		probably benign	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,609,639	N1119S	probably benign	Het
Klhl32	T	C	4: 24,682,063	I207V	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,579,946	I143T	possibly damaging	Het
Lrrk1	T	C	7: 66,305,521	K431E	possibly damaging	Het
Mag	C	T	7: 30,901,648		probably null	Het
Maml3	A	T	3: 51,856,930	N204K	possibly damaging	Het
Mrpl19	T	C	6: 81,964,066	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,148,025	G954A	probably damaging	Het
Mut	A	G	17: 40,958,872		probably null	Het
Myo19	A	G	11: 84,892,175	I172V	probably benign	Het
Naca	T	C	10: 128,040,661		probably benign	Het
Nfatc2	T	C	2: 168,506,994	N638D	possibly damaging	Het
Nsun6	A	G	2: 15,009,404		probably benign	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr584	C	A	7: 103,085,750	D72E	probably damaging	Het
Olfr913	T	A	9: 38,594,643	C141S	probably damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Prcd	A	G	11: 116,659,811	E103G	possibly damaging	Het
Prkx	A	T	X: 77,771,275	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,753,943		probably null	Het
Ranbp1	T	C	16: 18,247,429		probably benign	Het
Rb1cc1	T	A	1: 6,249,366	M1003K	probably benign	Het
Scap	A	T	9: 110,374,025	M256L	probably benign	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,114,104	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Ube3a	T	A	7: 59,276,519	C348*	probably null	Het
Ubr4	T	A	4: 139,421,855	D1777E	probably benign	Het
Unc79	C	A	12: 103,113,217	D1880E	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly damaging	Het

Other mutations in Dhrs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01730:Dhrs3	APN	4	144919472	missense	probably damaging	0.96
IGL02226:Dhrs3	APN	4	144923949	missense	possibly damaging	0.94
IGL02236:Dhrs3	APN	4	144893563	missense	probably benign
IGL02728:Dhrs3	APN	4	144920072	missense	probably damaging	0.98
R0079:Dhrs3	UTSW	4	144920048	missense	probably damaging	0.99
R0734:Dhrs3	UTSW	4	144927176	missense	probably damaging	0.99
R1474:Dhrs3	UTSW	4	144919487	missense	probably damaging	1.00
R1632:Dhrs3	UTSW	4	144893546	missense	probably benign	0.30
R2010:Dhrs3	UTSW	4	144927188	missense	possibly damaging	0.49
R3162:Dhrs3	UTSW	4	144919446	missense	possibly damaging	0.80
R3162:Dhrs3	UTSW	4	144919446	missense	possibly damaging	0.80
R3176:Dhrs3	UTSW	4	144923940	missense	probably benign	0.00
R3440:Dhrs3	UTSW	4	144920058	missense	probably damaging	1.00
R3709:Dhrs3	UTSW	4	144893711	critical splice donor site	probably null
R3795:Dhrs3	UTSW	4	144919392	missense	probably damaging	0.99
R5571:Dhrs3	UTSW	4	144893564	missense	probably benign	0.34
R5943:Dhrs3	UTSW	4	144919976	missense	possibly damaging	0.88
R6457:Dhrs3	UTSW	4	144919952	missense	probably damaging	1.00
R7607:Dhrs3	UTSW	4	144923940	missense	probably benign	0.00
R8144:Dhrs3	UTSW	4	144919904	missense	probably damaging	1.00
R8371:Dhrs3	UTSW	4	144919383	critical splice acceptor site	probably null
R9029:Dhrs3	UTSW	4	144927185	missense	probably damaging	1.00
R9112:Dhrs3	UTSW	4	144927199	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- AGAGATACTCCCTGCTAGTGG -3'
(R):5'- TTTTCCCAACTGGAGCCCAC -3'

Sequencing Primer
(F):5'- TGGGCATGACTTACTGCAAGATC -3'
(R):5'- CTGGAGCCCACAGAAGTTAAG -3'

Posted On

2015-01-23