Incidental Mutation 'IGL02226:Dhrs3'
ID285357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhrs3
Ensembl Gene ENSMUSG00000066026
Gene Namedehydrogenase/reductase (SDR family) member 3
SynonymsRsdr1, retSDR1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02226
Quality Score
Status
Chromosome4
Chromosomal Location144892827-144928209 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 144923949 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 248 (R248W)
Ref Sequence ENSEMBL: ENSMUSP00000122552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084184] [ENSMUST00000105744] [ENSMUST00000142808] [ENSMUST00000154208] [ENSMUST00000171001]
Predicted Effect probably benign
Transcript: ENSMUST00000084184
SMART Domains Protein: ENSMUSP00000081200
Gene: ENSMUSG00000066026

DomainStartEndE-ValueType
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: R182W

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101370
Gene: ENSMUSG00000066026
AA Change: R182W

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000154208
AA Change: R248W

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122552
Gene: ENSMUSG00000066026
AA Change: R248W

DomainStartEndE-ValueType
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: R222W

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126154
Gene: ENSMUSG00000066026
AA Change: R222W

DomainStartEndE-ValueType
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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415L06Rik A C X: 89,931,912 D226E probably damaging Het
Akap6 T C 12: 53,010,467 probably benign Het
Ankrd11 G A 8: 122,892,245 R1602W probably damaging Het
Arhgap23 G T 11: 97,451,600 R236L probably benign Het
Aurkaip1 T C 4: 155,832,571 V92A probably benign Het
Cdh20 A T 1: 104,954,091 probably benign Het
Ctnnd2 A G 15: 30,847,336 N691S probably benign Het
Ddx24 A C 12: 103,424,458 D2E possibly damaging Het
Dennd5b A G 6: 149,033,301 S691P probably benign Het
Dlgap1 T C 17: 70,516,034 S5P probably damaging Het
Ep300 A T 15: 81,613,412 M510L unknown Het
Fbxo25 T C 8: 13,923,922 probably benign Het
Gm3252 A T 14: 4,743,741 K193M possibly damaging Het
Gtf3c1 T C 7: 125,667,990 probably null Het
Helz2 T C 2: 181,231,690 D2337G probably damaging Het
Idh1 A T 1: 65,161,922 M290K probably damaging Het
Layn T C 9: 51,074,017 S80G probably damaging Het
Ltbp4 C T 7: 27,306,934 E1440K probably damaging Het
Mri1 T C 8: 84,256,295 T166A probably damaging Het
Myod1 C T 7: 46,378,306 T290I probably benign Het
Nfat5 T A 8: 107,351,522 L431* probably null Het
Nle1 A T 11: 82,904,307 Y299* probably null Het
Nlrp4c T A 7: 6,066,829 F576L possibly damaging Het
Nudt21 G T 8: 94,019,701 S123* probably null Het
Plekhg1 A C 10: 3,945,916 D436A probably damaging Het
Plxna2 T C 1: 194,644,424 V222A probably damaging Het
Rbm14 A G 19: 4,801,717 probably benign Het
Scfd1 T A 12: 51,389,381 probably benign Het
Slc34a2 A G 5: 53,067,731 T405A probably benign Het
Slc39a9 T A 12: 80,644,921 M14K probably damaging Het
Slc39a9 G A 12: 80,644,922 M14I probably damaging Het
Spast G A 17: 74,372,339 probably benign Het
Spen T C 4: 141,478,146 R1057G unknown Het
Sptbn4 T G 7: 27,365,707 T2056P probably damaging Het
Ssrp1 T C 2: 85,040,361 L148P probably damaging Het
Tdrd6 T A 17: 43,627,202 H985L probably damaging Het
Tmem44 A G 16: 30,539,381 probably benign Het
Vmn2r116 T A 17: 23,384,834 L11Q probably null Het
Wdr78 A T 4: 103,090,398 I227K probably benign Het
Other mutations in Dhrs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Dhrs3 APN 4 144919472 missense probably damaging 0.96
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
R3276: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
Posted On2015-04-16