Incidental Mutation 'R7610:Dhrs9'
ID 588531
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 045679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R7610 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 69210806-69233430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 69223291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 13 (A13D)
Ref Sequence ENSEMBL: ENSMUSP00000069631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063690]
AlphaFold Q58NB6
Predicted Effect unknown
Transcript: ENSMUST00000063690
AA Change: A13D
SMART Domains Protein: ENSMUSP00000069631
Gene: ENSMUSG00000027068
AA Change: A13D

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
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Adtrp A G 13: 41,969,670 (GRCm39) F110L probably benign Het
Akap9 T G 5: 4,007,677 (GRCm39) D230E possibly damaging Het
Alg11 G A 8: 22,555,147 (GRCm39) R136H probably damaging Het
Ank3 A T 10: 69,822,252 (GRCm39) N307I Het
Ankrd17 A G 5: 90,380,222 (GRCm39) S2489P possibly damaging Het
Asf1b T G 8: 84,691,678 (GRCm39) I43S probably damaging Het
Cdc37l1 G T 19: 28,985,132 (GRCm39) G261W possibly damaging Het
Cpped1 C A 16: 11,712,742 (GRCm39) probably null Het
Ctsk T C 3: 95,408,155 (GRCm39) F4L probably benign Het
D130043K22Rik A T 13: 25,059,985 (GRCm39) T619S probably benign Het
Ddx25 T A 9: 35,465,893 (GRCm39) L109F possibly damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Fam228a A G 12: 4,781,423 (GRCm39) probably null Het
Fancm T C 12: 65,152,454 (GRCm39) V970A probably damaging Het
Fcrl2 C A 3: 87,160,004 (GRCm39) V417F probably damaging Het
Fig4 C A 10: 41,129,709 (GRCm39) A504S probably damaging Het
Frmpd1 T C 4: 45,279,098 (GRCm39) S608P probably damaging Het
Ggta1 C T 2: 35,304,230 (GRCm39) probably null Het
Grb10 T C 11: 11,893,955 (GRCm39) K377R probably benign Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Klf14 A G 6: 30,935,005 (GRCm39) S210P probably damaging Het
Mcm3ap A G 10: 76,332,554 (GRCm39) probably null Het
Mgrn1 T C 16: 4,752,097 (GRCm39) *533Q probably null Het
Mtarc2 A G 1: 184,551,483 (GRCm39) Y318H probably benign Het
Notch1 A T 2: 26,368,191 (GRCm39) H598Q probably benign Het
Nt5el T A 13: 105,247,695 (GRCm39) N338K probably damaging Het
Ntng1 A G 3: 109,842,141 (GRCm39) S211P probably damaging Het
Or13a21 A T 7: 139,999,466 (GRCm39) C73* probably null Het
Or8i2 A G 2: 86,852,141 (GRCm39) V249A possibly damaging Het
Pgm5 A C 19: 24,812,120 (GRCm39) N137K probably damaging Het
Plcb2 T A 2: 118,550,240 (GRCm39) N172I possibly damaging Het
Pramel26 A T 4: 143,539,436 (GRCm39) M19K probably damaging Het
Rab11fip1 G A 8: 27,642,064 (GRCm39) H912Y probably benign Het
Rgl1 A G 1: 152,428,371 (GRCm39) V251A probably damaging Het
Rgs6 T C 12: 83,138,553 (GRCm39) Y296H probably damaging Het
Rhpn1 A G 15: 75,584,245 (GRCm39) T446A unknown Het
Rtn3 A G 19: 7,435,294 (GRCm39) S233P probably damaging Het
Rwdd1 A C 10: 33,877,134 (GRCm39) D203E probably benign Het
Samd9l A G 6: 3,376,754 (GRCm39) V169A probably benign Het
Slfn5 T C 11: 82,852,310 (GRCm39) L812P probably damaging Het
Smc1b T C 15: 84,955,021 (GRCm39) D1077G possibly damaging Het
Snrnp48 A G 13: 38,393,937 (GRCm39) R81G probably damaging Het
Syt17 A T 7: 118,033,682 (GRCm39) probably null Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Ttc3 T C 16: 94,228,697 (GRCm39) I757T probably benign Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Wdr54 C T 6: 83,129,839 (GRCm39) V305M possibly damaging Het
Xirp2 C T 2: 67,356,306 (GRCm39) T3689I possibly damaging Het
Zscan18 T C 7: 12,503,237 (GRCm39) K774R probably damaging 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
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
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
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'- TGGTTTGTCTTTCCAACAAGC -3'
(R):5'- CAAAGCAGCTGATCCTGACTC -3'

Sequencing Primer
(F):5'- GAACATCCAGGACATGATC -3'
(R):5'- TGACTCAGTCAGGCAGGCAG -3'
Posted On 2019-10-24