Incidental Mutation 'IGL02746:Dhrs2'
ID 306040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhrs2
Ensembl Gene ENSMUSG00000022209
Gene Name dehydrogenase/reductase member 2
Synonyms 5430405K24Rik, SDR family
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02746
Quality Score
Status
Chromosome 14
Chromosomal Location 55459464-55478892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55478628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 258 (S258P)
Ref Sequence ENSEMBL: ENSMUSP00000129115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022820] [ENSMUST00000165432]
AlphaFold Q149L0
Predicted Effect probably damaging
Transcript: ENSMUST00000022820
AA Change: S258P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022820
Gene: ENSMUSG00000022209
AA Change: S258P

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 damaging
Transcript: ENSMUST00000165432
AA Change: S258P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129115
Gene: ENSMUSG00000022209
AA Change: S258P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228056
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,646,462 (GRCm39) probably benign Het
Adck5 A T 15: 76,473,354 (GRCm39) M68L probably benign Het
Aox3 T C 1: 58,222,701 (GRCm39) S1165P possibly damaging Het
Arhgap23 A G 11: 97,345,030 (GRCm39) probably benign Het
Brdt T C 5: 107,518,190 (GRCm39) L771P probably benign Het
Ccdc134 T A 15: 82,015,938 (GRCm39) probably benign Het
Cdc42bpa T A 1: 179,939,312 (GRCm39) D41E possibly damaging Het
Cdkn2aipnl A G 11: 51,861,047 (GRCm39) T106A probably damaging Het
Cox10 G A 11: 63,855,357 (GRCm39) probably benign Het
Cubn C A 2: 13,449,851 (GRCm39) C891F probably damaging Het
Cyb5rl A G 4: 106,925,836 (GRCm39) E6G probably benign Het
Dnah10 T C 5: 124,807,150 (GRCm39) L145P possibly damaging Het
Epc1 A G 18: 6,454,317 (GRCm39) I129T probably benign Het
Gkn3 A G 6: 87,364,339 (GRCm39) probably benign Het
Gls2 A G 10: 128,036,825 (GRCm39) D202G probably damaging Het
Gm45844 A G 7: 7,243,178 (GRCm39) F24S probably damaging Het
Golph3 C T 15: 12,349,501 (GRCm39) R174W probably damaging Het
Gpatch4 A C 3: 87,961,698 (GRCm39) E119A possibly damaging Het
Hemgn A G 4: 46,400,740 (GRCm39) L40P probably damaging Het
Ifi27l2b A T 12: 103,417,493 (GRCm39) D231E unknown Het
Klf12 T C 14: 100,137,656 (GRCm39) I297V probably benign Het
Lzts3 T C 2: 130,478,261 (GRCm39) N165S probably damaging Het
Nlrp4e G A 7: 23,021,264 (GRCm39) V584I probably benign Het
Npas4 T C 19: 5,036,695 (GRCm39) T490A probably damaging Het
Pikfyve C A 1: 65,273,431 (GRCm39) H615Q probably damaging Het
Plce1 T A 19: 38,686,916 (GRCm39) L608Q probably damaging Het
Pou2f3 T G 9: 43,058,143 (GRCm39) Q67H probably benign Het
Rev3l T C 10: 39,700,585 (GRCm39) L1694P probably damaging Het
Rpl4 A G 9: 64,082,932 (GRCm39) T117A probably benign Het
Scn5a T C 9: 119,379,703 (GRCm39) N194D probably damaging Het
Sec16b T A 1: 157,373,859 (GRCm39) probably benign Het
Slc12a5 A T 2: 164,816,836 (GRCm39) M97L probably benign Het
Stard13 A G 5: 150,970,322 (GRCm39) probably benign Het
Stau1 A C 2: 166,796,818 (GRCm39) probably null Het
Thg1l A T 11: 45,839,054 (GRCm39) C219* probably null Het
Togaram1 G T 12: 65,013,270 (GRCm39) E174* probably null Het
Vmn1r237 T C 17: 21,534,480 (GRCm39) S68P possibly damaging Het
Vmn2r3 A T 3: 64,167,239 (GRCm39) S631T possibly damaging 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
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
R3805:Dhrs2 UTSW 14 55,472,205 (GRCm39) missense probably benign 0.03
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
Posted On 2015-04-16