Incidental Mutation 'R3805:Dhrs2'
ID 274568
Institutional Source Beutler Lab
Gene Symbol Dhrs2
Ensembl Gene ENSMUSG00000022209
Gene Name dehydrogenase/reductase member 2
Synonyms 5430405K24Rik, SDR family
MMRRC Submission 040762-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3805 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 55459464-55478892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55472205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 32 (N32I)
Ref Sequence ENSEMBL: ENSMUSP00000129115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022820] [ENSMUST00000165432]
AlphaFold Q149L0
Predicted Effect probably benign
Transcript: ENSMUST00000022820
AA Change: N32I

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000022820
Gene: ENSMUSG00000022209
AA Change: N32I

DomainStartEndE-ValueType
Pfam:adh_short 38 206 2.2e-31 PFAM
Pfam:KR 39 213 1.4e-11 PFAM
Pfam:adh_short_C2 43 279 2.8e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165432
AA Change: N32I

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000129115
Gene: ENSMUSG00000022209
AA Change: N32I

DomainStartEndE-ValueType
Pfam:adh_short 38 233 6.3e-52 PFAM
Pfam:KR 39 213 9.1e-12 PFAM
Pfam:adh_short_C2 43 279 1.8e-36 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Aebp2 GCGGCC GCGGCCGGCC 6: 140,589,675 (GRCm39) probably null Het
Ano5 T C 7: 51,226,398 (GRCm39) F584L probably benign Het
Ap1b1 T A 11: 4,983,225 (GRCm39) probably null Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Ccdc138 T C 10: 58,397,819 (GRCm39) I553T possibly damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Ctu1 T C 7: 43,326,097 (GRCm39) L252P probably damaging Het
Dnah1 A T 14: 31,016,720 (GRCm39) M1599K possibly damaging Het
Eri2 A T 7: 119,385,231 (GRCm39) C423* probably null Het
Fam169a G A 13: 97,234,192 (GRCm39) V155I probably benign Het
Get4 G T 5: 139,238,286 (GRCm39) V23F probably damaging Het
Hdac3 A G 18: 38,078,745 (GRCm39) probably null Het
Herc3 C A 6: 58,893,835 (GRCm39) H970Q probably damaging Het
Htt A G 5: 35,034,548 (GRCm39) probably null Het
Ifit1 A G 19: 34,625,556 (GRCm39) I231V probably damaging Het
Lingo4 A G 3: 94,309,407 (GRCm39) D115G probably damaging Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Map7d1 A T 4: 126,131,084 (GRCm39) probably null Het
Morf4l1 A G 9: 89,977,196 (GRCm39) S203P probably benign Het
Naaladl1 A G 19: 6,164,895 (GRCm39) T628A probably benign Het
Nlrp9a T A 7: 26,264,277 (GRCm39) C643* probably null Het
Or4ac1-ps1 A T 2: 88,370,700 (GRCm39) noncoding transcript Het
Or4b1 T G 2: 89,978,805 (GRCm39) probably benign Het
Oxtr T C 6: 112,454,147 (GRCm39) K39R probably benign Het
Ppp4r4 T A 12: 103,566,625 (GRCm39) M24K probably damaging Het
Ppp6r2 T C 15: 89,149,842 (GRCm39) F256L probably benign Het
Robo4 A T 9: 37,315,734 (GRCm39) D329V possibly damaging Het
Rsph10b G A 5: 143,895,206 (GRCm39) probably null Het
Slc9b2 T C 3: 135,030,349 (GRCm39) L222P probably damaging Het
Speer4a1 C T 5: 26,240,082 (GRCm39) E223K possibly damaging Het
St18 T A 1: 6,872,577 (GRCm39) L104H probably damaging Het
Tmem184c C A 8: 78,323,504 (GRCm39) D453Y unknown Het
Trpv1 A T 11: 73,143,879 (GRCm39) N237I probably damaging Het
Vmn2r77 T A 7: 86,444,368 (GRCm39) L7* probably null Het
Other mutations in Dhrs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01747:Dhrs2 APN 14 55,472,120 (GRCm39) missense probably benign 0.00
IGL02510:Dhrs2 APN 14 55,473,532 (GRCm39) missense probably damaging 1.00
IGL02604:Dhrs2 APN 14 55,474,778 (GRCm39) missense possibly damaging 0.88
IGL02746:Dhrs2 APN 14 55,478,628 (GRCm39) missense probably damaging 1.00
IGL03060:Dhrs2 APN 14 55,474,775 (GRCm39) missense probably benign 0.06
R0179:Dhrs2 UTSW 14 55,477,933 (GRCm39) missense probably damaging 1.00
R0358:Dhrs2 UTSW 14 55,473,574 (GRCm39) missense probably damaging 0.99
R0755:Dhrs2 UTSW 14 55,472,247 (GRCm39) missense probably damaging 1.00
R1848:Dhrs2 UTSW 14 55,478,298 (GRCm39) missense probably benign
R1977:Dhrs2 UTSW 14 55,472,112 (GRCm39) start codon destroyed probably null 0.11
R3084:Dhrs2 UTSW 14 55,477,301 (GRCm39) missense probably benign 0.00
R3086:Dhrs2 UTSW 14 55,477,301 (GRCm39) missense probably benign 0.00
R3806:Dhrs2 UTSW 14 55,472,205 (GRCm39) missense probably benign 0.03
R4361:Dhrs2 UTSW 14 55,478,646 (GRCm39) missense probably damaging 0.99
R4754:Dhrs2 UTSW 14 55,476,205 (GRCm39) missense probably damaging 0.97
R4989:Dhrs2 UTSW 14 55,474,722 (GRCm39) missense probably damaging 1.00
R5307:Dhrs2 UTSW 14 55,473,601 (GRCm39) missense possibly damaging 0.71
R7561:Dhrs2 UTSW 14 55,474,698 (GRCm39) missense probably benign
R8245:Dhrs2 UTSW 14 55,478,637 (GRCm39) missense possibly damaging 0.94
R8296:Dhrs2 UTSW 14 55,477,928 (GRCm39) missense probably damaging 1.00
R8324:Dhrs2 UTSW 14 55,476,221 (GRCm39) missense probably damaging 1.00
R8782:Dhrs2 UTSW 14 55,473,538 (GRCm39) missense possibly damaging 0.94
R8923:Dhrs2 UTSW 14 55,478,309 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGTACATGAAGAGCTCTGTGC -3'
(R):5'- GATACAGAGTTAAACACCAGGCTG -3'

Sequencing Primer
(F):5'- CTCTGTGCTTTTCTGGAAAGTC -3'
(R):5'- CACCAGGCTGTGTGATAGTTG -3'
Posted On 2015-04-02