Incidental Mutation 'R2086:Dhrs1'
ID 230024
Institutional Source Beutler Lab
Gene Symbol Dhrs1
Ensembl Gene ENSMUSG00000002332
Gene Name dehydrogenase/reductase 1
Synonyms 1110029G07Rik, dehydrogenase/reductase (SDR family) member 1
MMRRC Submission 040091-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R2086 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55976477-55983147 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55981116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 98 (Q98L)
Ref Sequence ENSEMBL: ENSMUSP00000002403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002403] [ENSMUST00000019441]
AlphaFold Q99L04
Predicted Effect probably null
Transcript: ENSMUST00000002403
AA Change: Q98L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000002403
Gene: ENSMUSG00000002332
AA Change: Q98L

DomainStartEndE-ValueType
Pfam:KR 8 114 1.5e-8 PFAM
Pfam:adh_short 8 209 2.4e-41 PFAM
Pfam:adh_short_C2 14 242 5.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000019441
SMART Domains Protein: ENSMUSP00000019441
Gene: ENSMUSG00000019297

DomainStartEndE-ValueType
low complexity region 11 55 N/A INTRINSIC
Blast:Pumilio 92 127 3e-15 BLAST
Pumilio 189 220 2.74e2 SMART
Blast:Pumilio 263 298 3e-14 BLAST
Pumilio 314 349 4.38e1 SMART
Pumilio 351 387 1.03e1 SMART
Pumilio 509 546 1.72e1 SMART
Pumilio 547 582 9.17e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155969
Meta Mutation Damage Score 0.1448 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 99% (80/81)
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 enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik T C 7: 124,917,767 (GRCm39) M53T unknown Het
Abcb11 T A 2: 69,089,820 (GRCm39) probably benign Het
Acap2 C G 16: 30,929,763 (GRCm39) A432P probably damaging Het
Adamtsl1 A G 4: 86,146,249 (GRCm39) R302G probably damaging Het
Aoc1l1 A G 6: 48,954,536 (GRCm39) E558G probably damaging Het
Ap2b1 T G 11: 83,241,944 (GRCm39) S608A possibly damaging Het
Atp13a3 T A 16: 30,171,116 (GRCm39) T310S possibly damaging Het
Atp6v1b1 T C 6: 83,734,834 (GRCm39) V382A probably benign Het
Atp6v1g1 T A 4: 63,468,304 (GRCm39) F102L probably benign Het
B430306N03Rik T A 17: 48,623,810 (GRCm39) V37D probably damaging Het
Cacna1d T C 14: 29,769,314 (GRCm39) Y1872C possibly damaging Het
Carf T A 1: 60,148,570 (GRCm39) Y54N probably damaging Het
Cct5 T C 15: 31,594,349 (GRCm39) E256G probably damaging Het
Cd5 A G 19: 10,700,620 (GRCm39) S295P probably benign Het
Cenpb T C 2: 131,020,517 (GRCm39) probably benign Het
Cntnap3 A G 13: 64,942,076 (GRCm39) M218T possibly damaging Het
Colec11 C T 12: 28,644,786 (GRCm39) R236H probably damaging Het
Crem T A 18: 3,288,098 (GRCm39) probably benign Het
Csnk2a1 A G 2: 152,096,201 (GRCm39) N58S probably benign Het
Cyp2a4 T G 7: 26,011,733 (GRCm39) M318R probably damaging Het
Dnah11 G T 12: 118,077,606 (GRCm39) Q1296K possibly damaging Het
Edc4 T A 8: 106,614,634 (GRCm39) D105E probably damaging Het
Eid2b C T 7: 27,977,198 (GRCm39) probably benign Het
Exoc1 A T 5: 76,680,693 (GRCm39) K28* probably null Het
Fam114a1 A G 5: 65,137,402 (GRCm39) D115G probably benign Het
Fam151a A T 4: 106,592,760 (GRCm39) probably null Het
Gc T C 5: 89,586,201 (GRCm39) Y313C probably damaging Het
Gdpd1 A G 11: 86,926,094 (GRCm39) Y284H probably benign Het
Gm21957 T A 7: 124,818,878 (GRCm39) noncoding transcript Het
Golm1 G A 13: 59,792,999 (GRCm39) Q169* probably null Het
Greb1l T C 18: 10,523,281 (GRCm39) V813A probably damaging Het
Itih1 C T 14: 30,659,800 (GRCm39) A279T probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lama1 T C 17: 68,124,618 (GRCm39) C2893R probably damaging Het
Lama3 T A 18: 12,657,887 (GRCm39) N334K probably benign Het
Loxhd1 A G 18: 77,472,642 (GRCm39) D1053G probably damaging Het
Map3k20 A G 2: 72,228,729 (GRCm39) K316R probably benign Het
Mapre3 A C 5: 31,020,546 (GRCm39) probably null Het
Mgam T A 6: 40,737,962 (GRCm39) probably null Het
Mical2 A C 7: 111,917,810 (GRCm39) H389P probably benign Het
Mtmr2 A G 9: 13,711,248 (GRCm39) D347G probably damaging Het
Nbeal2 G A 9: 110,463,139 (GRCm39) L1309F probably benign Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Nodal A T 10: 61,259,077 (GRCm39) E171D possibly damaging Het
Notch2 T C 3: 98,009,683 (GRCm39) S537P probably damaging Het
Obox6 A G 7: 15,567,532 (GRCm39) L305S probably damaging Het
Obscn T C 11: 58,969,082 (GRCm39) D2715G probably damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or5g26 A C 2: 85,494,090 (GRCm39) S229R probably benign Het
Pcca T C 14: 122,923,527 (GRCm39) S404P probably damaging Het
Pcdh10 T C 3: 45,334,906 (GRCm39) S407P probably damaging Het
Plekha5 C A 6: 140,516,044 (GRCm39) probably null Het
Ptdss1 A G 13: 67,101,619 (GRCm39) N72S probably benign Het
Ptprs T C 17: 56,761,984 (GRCm39) I43V probably null Het
Pygm G A 19: 6,441,511 (GRCm39) probably null Het
Rab7 C T 6: 87,989,300 (GRCm39) V57I probably benign Het
Rasl10a A G 11: 5,009,431 (GRCm39) probably null Het
Rergl T C 6: 139,471,832 (GRCm39) T106A probably benign Het
Rnf17 T G 14: 56,720,837 (GRCm39) V1023G probably damaging Het
Rnf25 T A 1: 74,633,126 (GRCm39) R409W probably damaging Het
Rps6ka1 T C 4: 133,600,280 (GRCm39) M1V probably null Het
Rps6ka5 T C 12: 100,585,874 (GRCm39) T140A possibly damaging Het
Sbno2 T A 10: 79,893,690 (GRCm39) I1204F possibly damaging Het
Serpina16 A T 12: 103,641,521 (GRCm39) I68N probably damaging Het
Slc35a5 A G 16: 44,964,628 (GRCm39) S202P probably damaging Het
Slc35g3 G C 11: 69,651,772 (GRCm39) S93W probably damaging Het
Slc49a3 C T 5: 108,593,487 (GRCm39) R117H probably damaging Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Spag1 T C 15: 36,227,287 (GRCm39) L648P probably damaging Het
Tagap1 T C 17: 7,224,102 (GRCm39) D198G probably benign Het
Tedc2 T C 17: 24,436,874 (GRCm39) E287G probably damaging Het
Tjp1 C A 7: 64,962,669 (GRCm39) R1089S probably damaging Het
Tnrc6a CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT 7: 122,761,669 (GRCm39) probably benign Het
Ttc38 T A 15: 85,722,928 (GRCm39) D125E probably benign Het
Uggt1 C T 1: 36,231,495 (GRCm39) R490Q probably null Het
Uroc1 T G 6: 90,321,096 (GRCm39) L224R probably damaging Het
Vmn1r228 A T 17: 20,997,455 (GRCm39) I21N possibly damaging Het
Vmn2r102 T G 17: 19,896,949 (GRCm39) L99V probably damaging Het
Vps13c C T 9: 67,857,571 (GRCm39) S2601F probably benign Het
Zfp462 T C 4: 55,010,830 (GRCm39) L932P probably damaging Het
Other mutations in Dhrs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03148:Dhrs1 APN 14 55,978,748 (GRCm39) nonsense probably null
R0113:Dhrs1 UTSW 14 55,977,396 (GRCm39) missense probably benign 0.00
R1104:Dhrs1 UTSW 14 55,981,162 (GRCm39) missense probably benign 0.00
R1756:Dhrs1 UTSW 14 55,976,766 (GRCm39) missense probably benign 0.06
R4820:Dhrs1 UTSW 14 55,977,083 (GRCm39) missense possibly damaging 0.60
R6023:Dhrs1 UTSW 14 55,981,127 (GRCm39) nonsense probably null
R6546:Dhrs1 UTSW 14 55,978,729 (GRCm39) missense possibly damaging 0.83
R7163:Dhrs1 UTSW 14 55,976,838 (GRCm39) missense probably benign 0.16
R8730:Dhrs1 UTSW 14 55,980,978 (GRCm39) missense probably benign 0.00
R8807:Dhrs1 UTSW 14 55,982,499 (GRCm39) missense probably damaging 1.00
R8892:Dhrs1 UTSW 14 55,977,404 (GRCm39) missense possibly damaging 0.93
R8968:Dhrs1 UTSW 14 55,978,192 (GRCm39) missense probably benign
R8995:Dhrs1 UTSW 14 55,977,396 (GRCm39) missense probably benign 0.02
R9008:Dhrs1 UTSW 14 55,978,638 (GRCm39) critical splice donor site probably null
R9477:Dhrs1 UTSW 14 55,976,868 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- TGAAGCACACACCTGAGTC -3'
(R):5'- AAGTGACACTGCTGTGAACTC -3'

Sequencing Primer
(F):5'- CACACCTGAGTCCAACATTGTTTATG -3'
(R):5'- GACACTGCTGTGAACTCATCCTC -3'
Posted On 2014-09-18