Incidental Mutation 'R3839:Sdr16c5'
ID 277042
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 040892-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R3839 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 3995942-4019663 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4006601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 230 (M230I)
Ref Sequence ENSEMBL: ENSMUSP00000046298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040925]
AlphaFold Q7TQA3
Predicted Effect probably damaging
Transcript: ENSMUST00000040925
AA Change: M230I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046298
Gene: ENSMUSG00000028236
AA Change: M230I

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 0.4314 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.8%
  • 20x: 96.4%
Validation Efficiency 98% (48/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028I16Rik A G 10: 82,648,219 (GRCm39) noncoding transcript Het
Abraxas2 T A 7: 132,484,867 (GRCm39) S303R probably benign Het
Ackr3 G A 1: 90,141,850 (GRCm39) S103N probably damaging Het
Arhgef25 T C 10: 127,025,605 (GRCm39) T12A probably benign Het
Aspm C T 1: 139,405,792 (GRCm39) H1560Y probably benign Het
Atg10 A T 13: 91,085,499 (GRCm39) I150K probably damaging Het
AW551984 T C 9: 39,509,204 (GRCm39) probably benign Het
Cald1 A T 6: 34,722,700 (GRCm39) D122V probably damaging Het
Cc2d2a T C 5: 43,876,056 (GRCm39) V1011A probably benign Het
Cdh9 G T 15: 16,823,524 (GRCm39) E169* probably null Het
Cmbl T C 15: 31,582,144 (GRCm39) V47A probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Ctnnd2 T A 15: 31,009,174 (GRCm39) probably null Het
Cyp4a10 A C 4: 115,382,544 (GRCm39) E278A possibly damaging Het
Ddx56 T C 11: 6,217,712 (GRCm39) D3G probably benign Het
Dnajb2 G A 1: 75,218,124 (GRCm39) probably null Het
Eif3d T A 15: 77,848,300 (GRCm39) T211S probably benign Het
Fam13c C T 10: 70,378,478 (GRCm39) S336L probably damaging Het
Garnl3 C T 2: 32,879,558 (GRCm39) G923S probably benign Het
Gcnt4 A T 13: 97,083,522 (GRCm39) R273* probably null Het
Gldc T A 19: 30,096,075 (GRCm39) probably benign Het
Glra2 C T X: 164,072,612 (GRCm39) V85I probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gpam T C 19: 55,068,890 (GRCm39) N450S probably benign Het
Gpr156 T A 16: 37,808,962 (GRCm39) V228D probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmgcr A G 13: 96,795,597 (GRCm39) I324T probably benign Het
Itga3 A G 11: 94,948,095 (GRCm39) probably null Het
Itih1 T A 14: 30,657,785 (GRCm39) N429Y probably damaging Het
Klhl40 A G 9: 121,609,482 (GRCm39) Y453C possibly damaging Het
Mid1ip1 T C X: 10,584,620 (GRCm39) V51A possibly damaging Het
Msn C A X: 95,203,805 (GRCm39) Q303K probably damaging Het
Nap1l1 T A 10: 111,331,183 (GRCm39) probably null Het
Rala A T 13: 18,067,759 (GRCm39) C91S probably damaging Het
Rps9 A G 7: 3,709,823 (GRCm39) probably benign Het
Sec14l3 A G 11: 4,021,544 (GRCm39) probably null Het
Senp2 T C 16: 21,828,485 (GRCm39) S32P probably damaging Het
Skor1 A C 9: 63,051,730 (GRCm39) S746R probably damaging Het
Slc17a4 C T 13: 24,085,752 (GRCm39) R387H probably benign Het
Slc47a1 G T 11: 61,243,884 (GRCm39) probably benign Het
Slit3 A T 11: 35,399,064 (GRCm39) N143I probably benign Het
Tpbg T C 9: 85,725,167 (GRCm39) probably benign Het
Tubb2a G T 13: 34,259,294 (GRCm39) N165K probably benign Het
Usp14 A G 18: 10,024,532 (GRCm39) probably null Het
Vmn2r109 A G 17: 20,774,704 (GRCm39) V217A probably damaging Het
Zfp108 A G 7: 23,959,981 (GRCm39) I191V probably benign 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
R3735:Sdr16c5 UTSW 4 4,005,614 (GRCm39) missense probably benign
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'- GGATGGGTACTAATTGGGCC -3'
(R):5'- CCAGTCAGACCTGAACACTTTAG -3'

Sequencing Primer
(F):5'- GGGCCTTGTAATCATTATCAATCAGG -3'
(R):5'- AGTCAGACCTGAACACTTTAGCTCTC -3'
Posted On 2015-04-06