Incidental Mutation 'IGL02728:Dhrs3'
ID 305324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhrs3
Ensembl Gene ENSMUSG00000066026
Gene Name dehydrogenase/reductase 3
Synonyms dehydrogenase/reductase (SDR family) member 3, retSDR1, Rsdr1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02728
Quality Score
Status
Chromosome 4
Chromosomal Location 144619397-144654779 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144646642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 231 (R231G)
Ref Sequence ENSEMBL: ENSMUSP00000122552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084184] [ENSMUST00000105744] [ENSMUST00000142808] [ENSMUST00000154208] [ENSMUST00000171001]
AlphaFold O88876
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 probably benign
Transcript: ENSMUST00000105744
AA Change: R165G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000101370
Gene: ENSMUSG00000066026
AA Change: R165G

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 probably damaging
Transcript: ENSMUST00000154208
AA Change: R231G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122552
Gene: ENSMUSG00000066026
AA Change: R231G

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 possibly damaging
Transcript: ENSMUST00000171001
AA Change: R205G

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126154
Gene: ENSMUSG00000066026
AA Change: R205G

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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 G T 9: 90,073,880 (GRCm39) probably benign Het
Als2 A G 1: 59,235,506 (GRCm39) V726A probably benign Het
Apba1 G A 19: 23,922,269 (GRCm39) G779E possibly damaging Het
Atr T A 9: 95,818,528 (GRCm39) V2167E probably damaging Het
Bod1l T C 5: 41,983,846 (GRCm39) K566E probably damaging Het
Btd T C 14: 31,389,319 (GRCm39) F347L probably benign Het
Btg2 T C 1: 134,006,643 (GRCm39) probably benign Het
Cblb T A 16: 52,003,672 (GRCm39) S717T probably benign Het
Cep250 T A 2: 155,825,198 (GRCm39) probably benign Het
Cep350 T C 1: 155,828,968 (GRCm39) N312S probably benign Het
Clasp1 A T 1: 118,530,107 (GRCm39) T1490S probably damaging Het
Col7a1 T A 9: 108,813,172 (GRCm39) C2906S probably benign Het
Csmd1 C T 8: 16,049,779 (GRCm39) probably null Het
Cspg4 T A 9: 56,793,765 (GRCm39) V500E probably damaging Het
Cyp7b1 T A 3: 18,126,739 (GRCm39) D469V probably damaging Het
Dhh A T 15: 98,792,192 (GRCm39) probably null Het
Disp3 A G 4: 148,356,495 (GRCm39) S122P probably damaging Het
Dnah1 T C 14: 31,005,955 (GRCm39) I2275V probably benign Het
Dock8 A C 19: 25,109,584 (GRCm39) N922T probably benign Het
Eef1d A G 15: 75,774,945 (GRCm39) L154P probably damaging Het
Eif4ebp1 C A 8: 27,763,510 (GRCm39) P101Q possibly damaging Het
Eif4g1 T G 16: 20,505,502 (GRCm39) probably benign Het
Emb A G 13: 117,369,301 (GRCm39) M50V probably benign Het
Eml4 T C 17: 83,780,568 (GRCm39) probably null Het
Fkbp10 G T 11: 100,306,803 (GRCm39) R65L probably damaging Het
Gm5878 T C 6: 85,095,574 (GRCm39) N83S probably benign Het
Gm8165 C T 14: 43,913,694 (GRCm39) A57T unknown Het
Gpr179 A G 11: 97,228,726 (GRCm39) V1143A probably damaging Het
Hat1 T C 2: 71,251,604 (GRCm39) Y218H probably damaging Het
Hfm1 T A 5: 107,026,689 (GRCm39) N885I probably benign Het
Ift70a1 T A 2: 75,811,193 (GRCm39) M297L probably benign Het
Inha T C 1: 75,486,091 (GRCm39) S129P probably damaging Het
Ints9 T C 14: 65,230,457 (GRCm39) I128T probably damaging Het
Klra9 T C 6: 130,168,149 (GRCm39) probably null Het
Lrba A G 3: 86,683,356 (GRCm39) E2726G probably damaging Het
Lrp1b T C 2: 40,691,410 (GRCm39) N3356D probably benign Het
Map3k5 A G 10: 19,994,038 (GRCm39) D1008G possibly damaging Het
Med4 T A 14: 73,755,415 (GRCm39) L241Q possibly damaging Het
Mtch1 A G 17: 29,557,716 (GRCm39) V254A possibly damaging Het
Napg C T 18: 63,127,375 (GRCm39) probably benign Het
Or1j11 T C 2: 36,312,156 (GRCm39) S249P possibly damaging Het
Or5k1 C T 16: 58,617,843 (GRCm39) R122H probably benign Het
Or7g33 A G 9: 19,449,142 (GRCm39) F28S possibly damaging Het
Or8d2 T C 9: 38,760,222 (GRCm39) S271P probably damaging Het
Or9r3 T A 10: 129,948,487 (GRCm39) R57S probably damaging Het
Pias1 T A 9: 62,830,926 (GRCm39) S161C probably damaging Het
Pias1 G T 9: 62,830,927 (GRCm39) N160K possibly damaging Het
Pigp G A 16: 94,168,466 (GRCm39) P37S probably damaging Het
Pik3c2b T A 1: 133,020,065 (GRCm39) V1070E probably benign Het
Pramel51 G T 12: 88,142,792 (GRCm39) H275Q probably benign Het
Prepl T C 17: 85,378,010 (GRCm39) T457A probably damaging Het
Psg23 G A 7: 18,340,853 (GRCm39) A467V probably benign Het
Rad54l T C 4: 115,980,146 (GRCm39) R13G probably benign Het
Rassf5 T C 1: 131,108,336 (GRCm39) D248G probably damaging Het
Rspo1 A G 4: 124,898,955 (GRCm39) N92S probably damaging Het
Scube1 G A 15: 83,543,217 (GRCm39) probably benign Het
Sec31b C A 19: 44,511,554 (GRCm39) V616F probably damaging Het
Sema3a T C 5: 13,615,881 (GRCm39) V435A probably damaging Het
Slc7a10 T A 7: 34,897,123 (GRCm39) I208N probably damaging Het
Stab2 A T 10: 86,692,420 (GRCm39) M2151K possibly damaging Het
Tacc1 T C 8: 25,665,235 (GRCm39) D50G probably damaging Het
Tas2r121 G T 6: 132,677,480 (GRCm39) T164N probably damaging Het
Tatdn2 T C 6: 113,681,676 (GRCm39) W570R probably damaging Het
Telo2 A T 17: 25,323,628 (GRCm39) F600I probably damaging Het
Trim36 T A 18: 46,305,669 (GRCm39) H426L probably benign Het
Trpm6 A T 19: 18,787,016 (GRCm39) N531Y possibly damaging Het
Ttc39a T C 4: 109,299,920 (GRCm39) C470R probably damaging Het
Ttn C T 2: 76,615,283 (GRCm39) E8485K probably damaging Het
Ubr4 A T 4: 139,196,122 (GRCm39) I1253F probably damaging Het
Unc79 A T 12: 103,088,688 (GRCm39) H1724L possibly damaging Het
Vmn1r40 T A 6: 89,691,998 (GRCm39) C89S probably benign Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Other mutations in Dhrs3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R2010:Dhrs3 UTSW 4 144,653,758 (GRCm39) missense possibly damaging 0.49
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
Posted On 2015-04-16