Incidental Mutation 'R3735:Sdr16c5'
ID 270043
Institutional Source Beutler Lab
Gene Symbol Sdr16c5
Ensembl Gene ENSMUSG00000028236
Gene Name short chain dehydrogenase/reductase family 16C, member 5
Synonyms Rdhe2, Scdr9
MMRRC Submission 040722-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R3735 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 3995942-4019663 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4005614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 240 (T240I)
Ref Sequence ENSEMBL: ENSMUSP00000046298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040925]
AlphaFold Q7TQA3
Predicted Effect probably benign
Transcript: ENSMUST00000040925
AA Change: T240I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046298
Gene: ENSMUSG00000028236
AA Change: T240I

DomainStartEndE-ValueType
Pfam:KR 41 233 1.8e-17 PFAM
Pfam:adh_short 41 238 1.7e-48 PFAM
Pfam:adh_short_C2 47 228 1.3e-12 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (71/71)
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 alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C G 4: 103,123,603 (GRCm39) E90Q probably damaging Het
Acadl G A 1: 66,892,448 (GRCm39) A125V probably benign Het
Acot12 T A 13: 91,932,465 (GRCm39) I487N probably benign Het
Acox3 A G 5: 35,768,497 (GRCm39) K686R probably benign Het
Adam17 T C 12: 21,375,413 (GRCm39) D802G probably benign Het
Aoc3 A T 11: 101,223,045 (GRCm39) D427V probably damaging Het
Bivm C T 1: 44,165,594 (GRCm39) H15Y probably benign Het
C8a T C 4: 104,674,812 (GRCm39) E509G probably benign Het
Ccdc158 A C 5: 92,780,283 (GRCm39) L930R possibly damaging Het
Cdca7 T A 2: 72,314,209 (GRCm39) probably null Het
Cep170b A T 12: 112,707,438 (GRCm39) I395F probably damaging Het
Champ1 T C 8: 13,928,735 (GRCm39) S298P probably damaging Het
Cimip2c A T 5: 30,639,442 (GRCm39) Y123F probably benign Het
Cyp2j8 T A 4: 96,332,836 (GRCm39) R503S probably damaging Het
Dcaf10 C T 4: 45,348,117 (GRCm39) T191I probably benign Het
Dido1 A G 2: 180,325,829 (GRCm39) probably benign Het
Dnah7b C T 1: 46,339,035 (GRCm39) T3361I probably benign Het
Dync1h1 G A 12: 110,598,109 (GRCm39) V1767I probably benign Het
Eml5 G A 12: 98,822,248 (GRCm39) T721I possibly damaging Het
F8 G A X: 74,254,981 (GRCm39) P2138S probably damaging Het
Fam169b G T 7: 68,000,049 (GRCm39) R198S probably damaging Het
Gm7694 A G 1: 170,130,330 (GRCm39) S23P probably damaging Het
Grk3 T A 5: 113,101,697 (GRCm39) T248S probably benign Het
Helq T G 5: 100,938,054 (GRCm39) D464A possibly damaging Het
Ido2 C T 8: 25,025,209 (GRCm39) V273M probably damaging Het
Il12rb1 T C 8: 71,269,862 (GRCm39) L518P probably damaging Het
Irag2 G A 6: 145,106,596 (GRCm39) probably benign Het
Kansl1l A G 1: 66,840,409 (GRCm39) V297A possibly damaging Het
Kcnj10 A G 1: 172,197,533 (GRCm39) Y349C possibly damaging Het
Krt18 A G 15: 101,936,936 (GRCm39) T75A probably benign Het
Lrp4 A T 2: 91,328,716 (GRCm39) I1539F probably damaging Het
Map3k6 T C 4: 132,973,683 (GRCm39) V458A probably benign Het
Med12l T A 3: 58,998,916 (GRCm39) H614Q probably damaging Het
Med13 A C 11: 86,170,484 (GRCm39) M1850R probably benign Het
Mfsd13a A G 19: 46,356,767 (GRCm39) Y256C probably damaging Het
Mogs C A 6: 83,093,757 (GRCm39) T242K possibly damaging Het
Myo9b T C 8: 71,801,241 (GRCm39) V1133A probably benign Het
Myom2 A T 8: 15,119,676 (GRCm39) H144L probably benign Het
Ncapg A T 5: 45,853,469 (GRCm39) Q906L probably benign Het
Nkx1-1 C T 5: 33,591,074 (GRCm39) V83I unknown Het
Npy4r T A 14: 33,869,226 (GRCm39) T21S probably benign Het
Nup88 A G 11: 70,847,018 (GRCm39) S331P probably damaging Het
Olr1 T A 6: 129,476,838 (GRCm39) probably benign Het
Or4k44 T A 2: 111,368,241 (GRCm39) H131L probably damaging Het
Osmr A T 15: 6,851,561 (GRCm39) Y656N probably damaging Het
Otogl A T 10: 107,735,390 (GRCm39) Y131* probably null Het
Pgr G A 9: 8,901,534 (GRCm39) G356S probably damaging Het
Prdm2 T C 4: 142,860,929 (GRCm39) E787G probably damaging Het
Prpf18 A G 2: 4,648,484 (GRCm39) I114T probably benign Het
R3hdm2 T A 10: 127,300,879 (GRCm39) I280N probably benign Het
Rims4 T C 2: 163,705,905 (GRCm39) D243G possibly damaging Het
Rmnd5a T C 6: 71,373,846 (GRCm39) D316G possibly damaging Het
Rpap2 T C 5: 107,803,017 (GRCm39) probably benign Het
Shroom3 T C 5: 93,112,303 (GRCm39) V1888A possibly damaging Het
Slc36a4 T A 9: 15,649,569 (GRCm39) Y466* probably null Het
Slco3a1 A G 7: 74,154,245 (GRCm39) I80T probably damaging Het
Sptlc2 G A 12: 87,388,339 (GRCm39) A381V probably benign Het
Stam A T 2: 14,133,823 (GRCm39) Q190L probably damaging Het
Suclg2 T A 6: 95,474,677 (GRCm39) I363F probably damaging Het
Tacstd2 A G 6: 67,511,843 (GRCm39) V283A probably damaging Het
Tln1 G T 4: 43,549,370 (GRCm39) A616E probably damaging Het
Trdmt1 A T 2: 13,524,684 (GRCm39) F257Y possibly damaging Het
Trip12 TATACATACATACATACATACATACATACATAC TATACATACATACATACATACATACATACATACATAC 1: 84,792,511 (GRCm39) probably null Het
Trps1 A G 15: 50,709,456 (GRCm39) I298T possibly damaging Het
Tti2 T C 8: 31,645,925 (GRCm39) L413P probably damaging Het
Utrn A G 10: 12,354,228 (GRCm39) V343A probably damaging Het
Vwf G T 6: 125,565,576 (GRCm39) W288L probably damaging Het
Zfp629 T A 7: 127,211,950 (GRCm39) probably benign Het
Zfp873 G A 10: 81,897,015 (GRCm39) S582N probably benign Het
Zfp979 A G 4: 147,697,939 (GRCm39) Y257H possibly damaging Het
Zfpm1 G A 8: 123,050,475 (GRCm39) C117Y possibly damaging Het
Other mutations in Sdr16c5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Sdr16c5 APN 4 4,012,320 (GRCm39) splice site probably benign
IGL02230:Sdr16c5 APN 4 4,016,354 (GRCm39) missense probably damaging 0.99
IGL03090:Sdr16c5 APN 4 4,006,575 (GRCm39) splice site probably benign
PIT4802001:Sdr16c5 UTSW 4 4,012,423 (GRCm39) missense probably damaging 1.00
R0377:Sdr16c5 UTSW 4 4,005,546 (GRCm39) missense probably benign 0.03
R0610:Sdr16c5 UTSW 4 4,016,116 (GRCm39) missense possibly damaging 0.81
R2012:Sdr16c5 UTSW 4 3,996,244 (GRCm39) missense probably benign
R3839:Sdr16c5 UTSW 4 4,006,601 (GRCm39) missense probably damaging 0.96
R3896:Sdr16c5 UTSW 4 4,006,609 (GRCm39) missense probably damaging 1.00
R4824:Sdr16c5 UTSW 4 4,016,216 (GRCm39) nonsense probably null
R5024:Sdr16c5 UTSW 4 4,010,365 (GRCm39) missense probably damaging 1.00
R5194:Sdr16c5 UTSW 4 4,006,663 (GRCm39) missense probably benign 0.16
R5395:Sdr16c5 UTSW 4 4,016,277 (GRCm39) missense probably benign 0.12
R6267:Sdr16c5 UTSW 4 4,016,162 (GRCm39) missense probably damaging 1.00
R6352:Sdr16c5 UTSW 4 4,016,421 (GRCm39) missense probably benign 0.00
R7076:Sdr16c5 UTSW 4 4,006,591 (GRCm39) missense probably damaging 0.99
R9147:Sdr16c5 UTSW 4 3,996,200 (GRCm39) missense probably benign
R9336:Sdr16c5 UTSW 4 4,016,108 (GRCm39) missense probably damaging 1.00
R9722:Sdr16c5 UTSW 4 4,005,595 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTGTGCAATAAAGGGTCATGG -3'
(R):5'- AGTTCACACTCCAGACATGCTAG -3'

Sequencing Primer
(F):5'- AACTAGTATTTGCTGACTGGCTC -3'
(R):5'- CCAGACATGCTAGTACTACTTTGAC -3'
Posted On 2015-03-18