Incidental Mutation 'R4582:Dhrs9'
ID 343719
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 041803-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R4582 (G1)
Quality Score 217
Status Not validated
Chromosome 2
Chromosomal Location 69210806-69233430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69227997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 204 (I204F)
Ref Sequence ENSEMBL: ENSMUSP00000069631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063690]
AlphaFold Q58NB6
Predicted Effect probably damaging
Transcript: ENSMUST00000063690
AA Change: I204F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069631
Gene: ENSMUSG00000027068
AA Change: I204F

DomainStartEndE-ValueType
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: 97.1%
  • 20x: 94.7%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra A T 15: 41,732,681 (GRCm39) D128E probably benign Het
Akap11 A T 14: 78,749,369 (GRCm39) V1006E possibly damaging Het
Ankrd7 T A 6: 18,868,020 (GRCm39) N95K probably damaging Het
Brd9 T C 13: 74,095,852 (GRCm39) F366L probably benign Het
Brinp2 A G 1: 158,095,508 (GRCm39) F118L probably damaging Het
Ccdc138 T C 10: 58,343,465 (GRCm39) probably null Het
Celsr3 T C 9: 108,722,922 (GRCm39) F189L probably damaging Het
Cfap45 A G 1: 172,357,479 (GRCm39) T36A probably benign Het
Clec4a1 G T 6: 122,909,150 (GRCm39) V173L possibly damaging Het
Col6a5 G A 9: 105,739,963 (GRCm39) T2552I probably benign Het
Dcaf15 A G 8: 84,824,598 (GRCm39) V533A probably damaging Het
Dock7 A G 4: 98,892,153 (GRCm39) V811A possibly damaging Het
Eef1akmt1 T C 14: 57,787,905 (GRCm39) D151G probably damaging Het
Eif4g3 G A 4: 137,898,556 (GRCm39) R1109H probably damaging Het
Gtpbp10 T C 5: 5,592,395 (GRCm39) T191A possibly damaging Het
Hectd4 A G 5: 121,424,482 (GRCm39) N714S possibly damaging Het
Lima1 T C 15: 99,678,873 (GRCm39) T523A possibly damaging Het
Lipe A G 7: 25,097,127 (GRCm39) L272P probably benign Het
Llgl2 A G 11: 115,741,532 (GRCm39) E554G possibly damaging Het
Lrrc66 T C 5: 73,765,580 (GRCm39) S488G possibly damaging Het
Man2a1 C T 17: 65,059,494 (GRCm39) A1127V probably benign Het
Naglu A T 11: 100,962,755 (GRCm39) I187F probably damaging Het
Nt5c1b T A 12: 10,440,054 (GRCm39) M548K probably damaging Het
Or10ak14 A T 4: 118,611,090 (GRCm39) I217N probably damaging Het
Or6c38 A T 10: 128,929,027 (GRCm39) V272E possibly damaging Het
Pcdha3 T C 18: 37,080,485 (GRCm39) V409A probably benign Het
Pde6b A T 5: 108,573,097 (GRCm39) probably null Het
Pkd2 A T 5: 104,650,210 (GRCm39) K857* probably null Het
Rfx4 T A 10: 84,680,164 (GRCm39) S114T possibly damaging Het
Sacs G A 14: 61,429,147 (GRCm39) G402D probably damaging Het
Slc22a5 C T 11: 53,782,035 (GRCm39) E111K probably damaging Het
Sptbn1 G A 11: 30,169,597 (GRCm39) R44C probably damaging Het
Taf1 T C X: 100,637,601 (GRCm39) V1696A possibly damaging Het
Tm9sf3 C A 19: 41,244,605 (GRCm39) G91C probably damaging Het
Tmie T G 9: 110,702,865 (GRCm39) E32A probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tsga13 A T 6: 30,879,298 (GRCm39) N138K probably benign Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Ugt1a10 A T 1: 87,983,463 (GRCm39) D87V possibly damaging Het
Vdac3-ps1 A T 13: 18,206,177 (GRCm39) noncoding transcript Het
Vmn1r29 A C 6: 58,285,017 (GRCm39) I246L probably damaging Het
Zbtb16 A G 9: 48,743,382 (GRCm39) V310A probably benign Het
Other mutations in Dhrs9
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4916:Dhrs9 UTSW 2 69,231,752 (GRCm39) missense probably damaging 1.00
R5045:Dhrs9 UTSW 2 69,223,339 (GRCm39) missense probably benign 0.00
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'- CACCCTCCAGATAAGTTTGACTG -3'
(R):5'- ATTCTGACCAGGACAGGGGATC -3'

Sequencing Primer
(F):5'- CTCCAGATAAGTTTGACTGAAACAC -3'
(R):5'- CAATGTAGCCCTCTCCAT -3'
Posted On 2015-09-24