Mutagenetix > Incidental Mutation

Incidental Mutation 'R2010:Dhrs3'

219449

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

040019-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2010 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144619397-144654779 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 144653758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 227 (T227I)

Ref Sequence

ENSEMBL: ENSMUSP00000101370 (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

possibly damaging
Transcript: ENSMUST00000105744
AA Change: T227I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101370
Gene: ENSMUSG00000066026
AA Change: T227I

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 benign
Transcript: ENSMUST00000154208
AA Change: T293I

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122552
Gene: ENSMUSG00000066026
AA Change: T293I

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: T267I

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126154
Gene: ENSMUSG00000066026
AA Change: T267I

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	G	A	3: 36,535,955 (GRCm39)	G74S	unknown	Het
Aimp1	A	T	3: 132,373,253 (GRCm39)	L229Q	probably benign	Het
Arhgef6	T	C	X: 56,344,865 (GRCm39)	T52A	possibly damaging	Het
Aste1	C	A	9: 105,280,701 (GRCm39)	H25Q	probably damaging	Het
Atp13a1	G	A	8: 70,244,010 (GRCm39)	G36R	possibly damaging	Het
Bahcc1	T	C	11: 120,163,604 (GRCm39)	V634A	probably damaging	Het
Bltp1	T	G	3: 36,982,700 (GRCm39)	N788K	probably benign	Het
C1s1	A	T	6: 124,514,353 (GRCm39)	Y168N	probably damaging	Het
Camsap2	T	C	1: 136,202,606 (GRCm39)	S612G	probably damaging	Het
Cdh23	C	A	10: 60,150,006 (GRCm39)	R2611L	probably damaging	Het
Cfap20dc	A	T	14: 8,511,021 (GRCm38)	F464L	probably damaging	Het
Cilp2	A	G	8: 70,334,344 (GRCm39)	Y885H	probably damaging	Het
Dnah2	A	T	11: 69,349,184 (GRCm39)		probably null	Het
Dnah3	T	G	7: 119,694,400 (GRCm39)	M1L	probably benign	Het
Ehbp1l1	A	G	19: 5,769,311 (GRCm39)	I664T	probably benign	Het
Eif4e	C	T	3: 138,261,219 (GRCm39)	T171I	probably benign	Het
Elfn1	C	T	5: 139,959,071 (GRCm39)	R692W	probably damaging	Het
Eps8l3	T	A	3: 107,786,688 (GRCm39)	M1K	probably null	Het
Evi5	C	A	5: 107,961,411 (GRCm39)		probably null	Het
Fancd2	A	T	6: 113,570,252 (GRCm39)	D1401V	probably damaging	Het
Fat2	G	A	11: 55,144,653 (GRCm39)	R4074C	probably damaging	Het
Fkbp4	A	T	6: 128,412,765 (GRCm39)	V55E	probably benign	Het
Fnip1	A	G	11: 54,373,329 (GRCm39)	D180G	probably damaging	Het
Galc	A	G	12: 98,220,489 (GRCm39)	F126S	possibly damaging	Het
Gdf7	C	T	12: 8,351,729 (GRCm39)	V69M	unknown	Het
Glis2	A	G	16: 4,426,575 (GRCm39)	E22G	probably damaging	Het
H2bc3	G	A	13: 23,931,111 (GRCm39)	V112M	possibly damaging	Het
Hps4	T	A	5: 112,517,342 (GRCm39)	V243E	probably damaging	Het
Ighe	T	A	12: 113,235,108 (GRCm39)	I351F	unknown	Het
Irak4	A	T	15: 94,449,687 (GRCm39)	R55S	probably damaging	Het
Itpr2	G	A	6: 146,129,022 (GRCm39)		probably null	Het
Katnip	A	G	7: 125,472,128 (GRCm39)	I1544M	possibly damaging	Het
Kirrel3	T	C	9: 34,850,494 (GRCm39)	Y41H	probably damaging	Het
Krr1	A	G	10: 111,811,474 (GRCm39)	E56G	possibly damaging	Het
Lgi1	G	A	19: 38,289,683 (GRCm39)	V250I	probably damaging	Het
Lipf	A	G	19: 33,950,946 (GRCm39)	N306D	probably benign	Het
Lman2l	C	T	1: 36,484,262 (GRCm39)	W18*	probably null	Het
Lztfl1	T	A	9: 123,531,251 (GRCm39)	N239I	possibly damaging	Het
Mief1	T	C	15: 80,132,126 (GRCm39)	S66P	possibly damaging	Het
Mmp8	C	A	9: 7,567,535 (GRCm39)	S465*	probably null	Het
Muc2	A	T	7: 141,287,444 (GRCm39)	T208S	probably damaging	Het
Myh8	A	T	11: 67,187,990 (GRCm39)	K921*	probably null	Het
Myh9	T	C	15: 77,656,147 (GRCm39)	E1121G	probably benign	Het
Nbn	T	C	4: 15,969,393 (GRCm39)	S213P	probably damaging	Het
Nol10	A	G	12: 17,466,102 (GRCm39)	E499G	probably benign	Het
Nxn	T	C	11: 76,289,627 (GRCm39)	E87G	probably damaging	Het
Or14c40	A	G	7: 86,313,811 (GRCm39)	T314A	probably benign	Het
Or51f2	T	A	7: 102,526,892 (GRCm39)	C188*	probably null	Het
Or8g23	T	C	9: 38,971,395 (GRCm39)	H189R	probably benign	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,698,819 (GRCm39)		probably benign	Het
Pigk	A	G	3: 152,472,151 (GRCm39)	I354M	probably damaging	Het
Pigl	T	A	11: 62,349,508 (GRCm39)	C75S	probably damaging	Het
Pm20d1	T	A	1: 131,739,852 (GRCm39)	I400N	probably benign	Het
Prkg2	T	A	5: 99,172,664 (GRCm39)	H17L	probably benign	Het
Psmd1	T	A	1: 86,003,719 (GRCm39)	L168Q	probably damaging	Het
Rab3gap2	A	T	1: 185,010,478 (GRCm39)	H1136L	possibly damaging	Het
Rb1	T	C	14: 73,532,433 (GRCm39)	T134A	probably benign	Het
Rims1	T	C	1: 22,367,220 (GRCm39)	E1024G	probably damaging	Het
Rrp12	A	G	19: 41,861,376 (GRCm39)	V977A	probably benign	Het
Rusc2	C	T	4: 43,415,212 (GRCm39)	P173S	probably benign	Het
Selenov	A	T	7: 27,987,447 (GRCm39)	D310E	probably damaging	Het
Serpina3f	T	A	12: 104,183,582 (GRCm39)	L148Q	probably damaging	Het
Slc10a1	C	T	12: 81,007,221 (GRCm39)	V187I	probably benign	Het
Spsb2	A	G	6: 124,787,339 (GRCm39)	K258E	probably damaging	Het
Tas2r105	A	C	6: 131,664,365 (GRCm39)	V21G	probably benign	Het
Tmem229b-ps	T	A	10: 53,351,295 (GRCm39)		noncoding transcript	Het
Tnrc6a	C	G	7: 122,770,269 (GRCm39)	H686Q	probably benign	Het
Trpc2	T	A	7: 101,743,780 (GRCm39)	F715L	probably benign	Het
Ube2t	T	A	1: 134,897,036 (GRCm39)	I56N	probably benign	Het
Ubr4	T	C	4: 139,207,963 (GRCm39)	Y4915H	possibly damaging	Het
Usp32	T	A	11: 84,930,830 (GRCm39)	E533D	probably damaging	Het
Vipr2	T	G	12: 116,086,430 (GRCm39)		probably null	Het
Vmn1r15	A	G	6: 57,235,269 (GRCm39)	T46A	probably benign	Het
Vmn1r203	T	G	13: 22,708,617 (GRCm39)	S133A	possibly damaging	Het
Vmn1r215	T	G	13: 23,260,378 (GRCm39)	N139K	probably damaging	Het
Vmn1r232	C	T	17: 21,133,601 (GRCm39)	R333H	probably benign	Het
Wdr20rt	C	A	12: 65,273,988 (GRCm39)	H311N	possibly damaging	Het
Zranb1	T	C	7: 132,568,425 (GRCm39)		probably null	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
R0734:Dhrs3	UTSW	4	144,653,746 (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
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'- CTTGGATGCACACTGGATGC -3'
(R):5'- GGGGAGCTGCAAAATCTTCC -3'

Sequencing Primer
(F):5'- TGGATGCTGACAGTGCAACTCTC -3'
(R):5'- TGCAAAATCTTCCCTGGGGAC -3'

Posted On

2014-08-25