Mutagenetix > Incidental Mutation

Incidental Mutation 'R5045:Dhrs9'

394297

Institutional Source

Beutler Lab

Gene Symbol

Dhrs9

Ensembl Gene

ENSMUSG00000027068

Gene Name

dehydrogenase/reductase 9

Synonyms

C730025I08Rik, Rdh15, dehydrogenase/reductase (SDR family) member 9

MMRRC Submission

042635-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R5045 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69210806-69233430 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69223339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 29 (D29G)

Ref Sequence

ENSEMBL: ENSMUSP00000069631 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063690]

AlphaFold

Q58NB6

Predicted Effect

probably benign
Transcript: ENSMUST00000063690
AA Change: D29G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000069631
Gene: ENSMUSG00000027068
AA Change: D29G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:adh_short	30	222	2.3e-41	PFAM
Pfam:adh_short_C2	36	237	1.4e-10	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

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 dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoreductase activity toward hydroxysteroids and is able to convert 3-alpha-tetrahydroprogesterone to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone in the cytoplasm, and may additionally function as a transcriptional repressor in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,530,327 (GRCm39)		probably benign	Het
2210408I21Rik	A	G	13: 77,415,927 (GRCm39)		probably null	Het
4930519P11Rik	A	T	2: 154,454,950 (GRCm39)	C136*	probably null	Het
4930519P11Rik	G	T	2: 154,454,982 (GRCm39)		probably benign	Het
Adgrb3	T	A	1: 25,113,860 (GRCm39)	H1189L	probably damaging	Het
Arhgap24	A	G	5: 103,039,743 (GRCm39)	I227V	possibly damaging	Het
Arhgap29	C	A	3: 121,796,244 (GRCm39)	N445K	probably benign	Het
Atp13a3	T	C	16: 30,158,694 (GRCm39)	H811R	probably benign	Het
Cd2ap	T	C	17: 43,118,851 (GRCm39)	N529S	probably benign	Het
Cdh20	T	A	1: 110,026,080 (GRCm39)	S439T	probably benign	Het
Ces3a	G	T	8: 105,777,248 (GRCm39)		probably null	Het
Cftr	T	A	6: 18,230,080 (GRCm39)	N408K	probably benign	Het
Chil5	T	C	3: 105,931,456 (GRCm39)	N136S	possibly damaging	Het
Col20a1	A	G	2: 180,648,638 (GRCm39)	D933G	probably damaging	Het
Crh	A	T	3: 19,748,153 (GRCm39)	L163*	probably null	Het
Ctps1	A	C	4: 120,410,075 (GRCm39)		probably null	Het
Cyb5d2	A	G	11: 72,686,401 (GRCm39)	V63A	probably damaging	Het
Cyp2d11	T	A	15: 82,275,272 (GRCm39)		probably null	Het
Dclk3	A	T	9: 111,296,856 (GRCm39)	E133D	probably damaging	Het
Disp2	G	A	2: 118,622,543 (GRCm39)	E1092K	probably benign	Het
Enpp3	A	G	10: 24,652,665 (GRCm39)	I764T	probably damaging	Het
Epm2aip1	C	A	9: 111,102,427 (GRCm39)	R467S	possibly damaging	Het
Fam20a	T	C	11: 109,568,711 (GRCm39)	I272V	probably benign	Het
Fgb	T	C	3: 82,950,680 (GRCm39)	Y358C	probably damaging	Het
Gm11596	A	T	11: 99,683,695 (GRCm39)	S142T	unknown	Het
Golga4	A	G	9: 118,394,724 (GRCm39)	T9A	probably benign	Het
Hmcn2	C	T	2: 31,299,093 (GRCm39)	P2813L	probably damaging	Het
Ighv1-9	C	T	12: 114,547,440 (GRCm39)	G34R	probably damaging	Het
Kalrn	A	C	16: 34,134,722 (GRCm39)	Y353*	probably null	Het
Klrk1	T	C	6: 129,594,466 (GRCm39)	Y42C	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Mbtd1	T	C	11: 93,822,641 (GRCm39)	Y484H	probably benign	Het
Mki67	T	C	7: 135,309,633 (GRCm39)	R273G	possibly damaging	Het
Myh11	A	T	16: 14,057,391 (GRCm39)	L308*	probably null	Het
Nacc2	G	A	2: 25,980,150 (GRCm39)		probably null	Het
Nadsyn1	A	G	7: 143,360,706 (GRCm39)	L354P	probably damaging	Het
Ntrk3	T	A	7: 78,110,172 (GRCm39)	Q354L	probably benign	Het
Or10ag58	A	T	2: 87,265,490 (GRCm39)	I220L	probably damaging	Het
Or52r1c	G	A	7: 102,735,664 (GRCm39)	G308E	probably benign	Het
Phactr3	T	C	2: 177,973,412 (GRCm39)	I470T	probably damaging	Het
Pkd1l3	C	T	8: 110,349,787 (GRCm39)	P211S	unknown	Het
Potefam1	T	A	2: 111,023,804 (GRCm39)	Q110L	unknown	Het
Prickle2	T	C	6: 92,353,375 (GRCm39)	D753G	probably damaging	Het
Prr12	A	G	7: 44,699,318 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,166,477 (GRCm39)	E917G	probably damaging	Het
Rgsl1	T	A	1: 153,697,268 (GRCm39)	K551*	probably null	Het
Stag3	T	C	5: 138,302,740 (GRCm39)	L1033P	probably damaging	Het
Tcaf3	T	A	6: 42,570,618 (GRCm39)	Q378L	possibly damaging	Het
Tdpoz8	G	T	3: 92,981,524 (GRCm39)	D181Y	probably damaging	Het
Tespa1	A	T	10: 130,197,904 (GRCm39)	K309*	probably null	Het
Trim69	A	G	2: 122,004,727 (GRCm39)	T275A	probably benign	Het
Txndc17	T	C	11: 72,098,537 (GRCm39)	Y30H	probably damaging	Het
Ugt2a2	A	T	5: 87,622,751 (GRCm39)	F72L	probably damaging	Het
Vmn2r59	A	T	7: 41,695,496 (GRCm39)	D305E	possibly damaging	Het
Vmn2r71	A	G	7: 85,273,597 (GRCm39)	I804V	probably benign	Het
Zfy2	T	C	Y: 2,107,159 (GRCm39)	K492E	possibly damaging	Het
Zkscan1	A	G	5: 138,099,182 (GRCm39)	H375R	probably damaging	Het

Other mutations in Dhrs9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2267:Dhrs9	UTSW	2	69,223,197 (GRCm39)	splice site	probably benign
R2425:Dhrs9	UTSW	2	69,223,308 (GRCm39)	missense	probably benign	0.43
R4573:Dhrs9	UTSW	2	69,227,985 (GRCm39)	missense	probably benign	0.21
R4582:Dhrs9	UTSW	2	69,227,997 (GRCm39)	missense	probably damaging	1.00
R4916:Dhrs9	UTSW	2	69,231,752 (GRCm39)	missense	probably damaging	1.00
R5048:Dhrs9	UTSW	2	69,224,744 (GRCm39)	missense	probably damaging	1.00
R5640:Dhrs9	UTSW	2	69,224,822 (GRCm39)	missense	probably damaging	0.99
R6342:Dhrs9	UTSW	2	69,223,531 (GRCm39)	missense	probably benign	0.19
R6630:Dhrs9	UTSW	2	69,228,067 (GRCm39)	missense	possibly damaging	0.53
R7034:Dhrs9	UTSW	2	69,223,520 (GRCm39)	missense	probably benign	0.02
R7157:Dhrs9	UTSW	2	69,223,502 (GRCm39)	missense	probably damaging	1.00
R7457:Dhrs9	UTSW	2	69,231,611 (GRCm39)	missense	probably benign	0.00
R7610:Dhrs9	UTSW	2	69,223,291 (GRCm39)	missense	unknown
R7821:Dhrs9	UTSW	2	69,224,782 (GRCm39)	missense	probably damaging	1.00
R7851:Dhrs9	UTSW	2	69,231,600 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TTTGTCTTTCCAACAAGCAACC -3'
(R):5'- AGTGACATCCAGAAGCACG -3'

Sequencing Primer
(F):5'- ACTCACATTTGCCAACATGTG -3'
(R):5'- AAGCACGGTGTGGAGTCTCTC -3'

Posted On

2016-06-15