Incidental Mutation 'R9336:Sdr16c5'
ID 707125
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R9336 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 3995936-4019663 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4016108 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 106 (Y106C)
Ref Sequence ENSEMBL: ENSMUSP00000046298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040925]
AlphaFold Q7TQA3
Predicted Effect probably damaging
Transcript: ENSMUST00000040925
AA Change: Y106C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046298
Gene: ENSMUSG00000028236
AA Change: Y106C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik C T 4: 147,945,033 (GRCm38) R487C probably benign Het
2610044O15Rik8 A T 8: 129,217,668 (GRCm38) D91E unknown Het
2900026A02Rik A T 5: 113,093,100 (GRCm38) probably null Het
9130011E15Rik A T 19: 45,956,681 (GRCm38) M277K probably damaging Het
Adamts15 T A 9: 30,904,789 (GRCm38) T625S probably damaging Het
Adamtsl1 T C 4: 86,322,027 (GRCm38) V675A probably benign Het
Ank3 A T 10: 69,973,748 (GRCm38) T1120S probably benign Het
Babam2 A T 5: 31,701,850 (GRCm38) M1L possibly damaging Het
Cadm3 G A 1: 173,341,219 (GRCm38) Q261* probably null Het
Cdc27 A T 11: 104,505,670 (GRCm38) D802E probably benign Het
Cfap206 C T 4: 34,716,494 (GRCm38) V324I probably benign Het
Cfap44 T C 16: 44,422,444 (GRCm38) I737T probably damaging Het
Chrm3 A T 13: 9,878,616 (GRCm38) I128N probably damaging Het
Cyfip1 T A 7: 55,904,441 (GRCm38) S743T probably benign Het
Ddias A G 7: 92,858,106 (GRCm38) V867A possibly damaging Het
Ddx20 G C 3: 105,678,587 (GRCm38) T814R possibly damaging Het
Dgka A T 10: 128,731,066 (GRCm38) probably null Het
Dnah9 A T 11: 65,870,949 (GRCm38) V3905E probably damaging Het
Dsg3 C A 18: 20,524,685 (GRCm38) Q271K probably benign Het
Dvl2 T A 11: 70,006,354 (GRCm38) I294N probably damaging Het
E2f3 G A 13: 29,911,256 (GRCm38) H350Y possibly damaging Het
Eif2b5 G A 16: 20,505,277 (GRCm38) D457N probably damaging Het
Erbb3 T C 10: 128,585,060 (GRCm38) T125A probably benign Het
Etv5 A C 16: 22,435,877 (GRCm38) C78G probably benign Het
Frrs1 G A 3: 116,890,933 (GRCm38) R263H probably benign Het
Grid1 G A 14: 35,321,707 (GRCm38) D340N probably damaging Het
Hivep3 A T 4: 120,095,203 (GRCm38) I239F possibly damaging Het
Ifi208 C T 1: 173,682,828 (GRCm38) T183I probably damaging Het
Ifitm2 AG A 7: 140,955,901 (GRCm38) probably null Het
Igkv1-88 T A 6: 68,862,329 (GRCm38) I100F probably damaging Het
Kmt2c T C 5: 25,409,167 (GRCm38) N185S probably benign Het
Kmt2d A C 15: 98,845,816 (GRCm38) L3821R unknown Het
Krtap22-2 T G 16: 89,010,590 (GRCm38) Y40S unknown Het
Lrrc1 A G 9: 77,442,198 (GRCm38) V362A probably damaging Het
Malsu1 T A 6: 49,084,515 (GRCm38) I171N probably damaging Het
Mark1 C T 1: 184,916,148 (GRCm38) G314S possibly damaging Het
Mib2 T C 4: 155,658,937 (GRCm38) N135S probably benign Het
Mos A T 4: 3,870,886 (GRCm38) L310Q probably damaging Het
Muc4 C T 16: 32,750,938 (GRCm38) T272I possibly damaging Het
Myo15b A G 11: 115,880,238 (GRCm38) T1654A Het
Napsa G T 7: 44,582,345 (GRCm38) G153W probably damaging Het
Nos3 A C 5: 24,379,763 (GRCm38) I722L probably benign Het
Olfr1457 A T 19: 13,095,149 (GRCm38) S166R probably benign Het
Olfr406 A T 11: 74,269,917 (GRCm38) D176V probably damaging Het
Olfr419 A T 1: 174,250,113 (GRCm38) D271E probably damaging Het
Olfr555 A T 7: 102,658,992 (GRCm38) H57L probably damaging Het
P4ha2 T A 11: 54,111,564 (GRCm38) D109E possibly damaging Het
Pappa G T 4: 65,124,681 (GRCm38) C47F unknown Het
Pbx3 T A 2: 34,371,820 (GRCm38) H34L probably benign Het
Pcca A G 14: 122,650,326 (GRCm38) T234A probably benign Het
Pcdha11 C T 18: 37,011,461 (GRCm38) R202W probably damaging Het
Pcdhga1 T G 18: 37,662,198 (GRCm38) V85G probably damaging Het
Pclo A G 5: 14,676,548 (GRCm38) I1807V unknown Het
Pgm3 A T 9: 86,555,360 (GRCm38) F528Y probably benign Het
Pigz T C 16: 31,944,876 (GRCm38) Y251H probably damaging Het
Pik3c2g G T 6: 139,875,435 (GRCm38) Q687H Het
Pja2 A T 17: 64,283,437 (GRCm38) N700K unknown Het
Pkd2l2 T C 18: 34,428,105 (GRCm38) F389L probably damaging Het
Plcz1 T A 6: 140,039,720 (GRCm38) T32S possibly damaging Het
Pola2 A G 19: 5,941,001 (GRCm38) V555A possibly damaging Het
Ppp4r3a A C 12: 101,049,660 (GRCm38) C541G probably benign Het
Prr15l A T 11: 96,934,773 (GRCm38) K76N probably damaging Het
Psg28 C A 7: 18,422,980 (GRCm38) K443N possibly damaging Het
Ptch2 A G 4: 117,109,579 (GRCm38) D553G possibly damaging Het
Ptch2 G T 4: 117,097,000 (GRCm38) A76S probably damaging Het
Ptprz1 T C 6: 23,000,856 (GRCm38) S982P probably benign Het
Rnd3 T C 2: 51,148,832 (GRCm38) I15V probably benign Het
Rtn3 T C 19: 7,482,963 (GRCm38) K41E unknown Het
Sap25 T C 5: 137,641,723 (GRCm38) S30P probably benign Het
Scfd2 A T 5: 74,531,345 (GRCm38) I92N probably damaging Het
Sell T C 1: 164,065,608 (GRCm38) I131T probably damaging Het
Sesn3 T A 9: 14,314,554 (GRCm38) V195D probably damaging Het
Setdb2 A G 14: 59,423,367 (GRCm38) V109A unknown Het
Skint2 T C 4: 112,625,857 (GRCm38) I153T probably benign Het
Slc22a1 A G 17: 12,667,255 (GRCm38) S164P probably damaging Het
Sowahc G A 10: 59,222,483 (GRCm38) G147D probably benign Het
Strip2 G C 6: 29,931,825 (GRCm38) G456R probably benign Het
Synpo G T 18: 60,602,400 (GRCm38) R825S probably damaging Het
Tango6 A G 8: 106,689,069 (GRCm38) D174G probably benign Het
Tas1r2 T C 4: 139,662,005 (GRCm38) F433S probably damaging Het
Tas2r126 T C 6: 42,434,943 (GRCm38) S137P probably benign Het
Tbc1d15 A G 10: 115,208,961 (GRCm38) F512S probably damaging Het
Tenm3 A T 8: 48,417,080 (GRCm38) L226Q probably damaging Het
Tmod1 A G 4: 46,078,368 (GRCm38) T59A probably damaging Het
Tmprss9 T A 10: 80,894,953 (GRCm38) M771K probably benign Het
Trim29 T C 9: 43,327,053 (GRCm38) Y485H possibly damaging Het
Ttc17 T C 2: 94,358,853 (GRCm38) K144E probably benign Het
Ttc21b A G 2: 66,226,943 (GRCm38) Y562H probably benign Het
Ugt2b5 T C 5: 87,137,271 (GRCm38) H269R probably benign Het
Utp20 A G 10: 88,813,936 (GRCm38) F471L probably damaging Het
Vmn2r120 T A 17: 57,525,201 (GRCm38) D196V possibly damaging Het
Wdr72 T C 9: 74,210,010 (GRCm38) V680A probably damaging Het
Wee1 G A 7: 110,122,482 (GRCm38) G45S probably damaging Het
Zfp518a G A 19: 40,912,781 (GRCm38) V385I probably benign Het
Other mutations in Sdr16c5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Sdr16c5 APN 4 4,012,320 (GRCm38) splice site probably benign
IGL02230:Sdr16c5 APN 4 4,016,354 (GRCm38) missense probably damaging 0.99
IGL03090:Sdr16c5 APN 4 4,006,575 (GRCm38) splice site probably benign
PIT4802001:Sdr16c5 UTSW 4 4,012,423 (GRCm38) missense probably damaging 1.00
R0377:Sdr16c5 UTSW 4 4,005,546 (GRCm38) missense probably benign 0.03
R0610:Sdr16c5 UTSW 4 4,016,116 (GRCm38) missense possibly damaging 0.81
R2012:Sdr16c5 UTSW 4 3,996,244 (GRCm38) missense probably benign
R3735:Sdr16c5 UTSW 4 4,005,614 (GRCm38) missense probably benign
R3839:Sdr16c5 UTSW 4 4,006,601 (GRCm38) missense probably damaging 0.96
R3896:Sdr16c5 UTSW 4 4,006,609 (GRCm38) missense probably damaging 1.00
R4824:Sdr16c5 UTSW 4 4,016,216 (GRCm38) nonsense probably null
R5024:Sdr16c5 UTSW 4 4,010,365 (GRCm38) missense probably damaging 1.00
R5194:Sdr16c5 UTSW 4 4,006,663 (GRCm38) missense probably benign 0.16
R5395:Sdr16c5 UTSW 4 4,016,277 (GRCm38) missense probably benign 0.12
R6267:Sdr16c5 UTSW 4 4,016,162 (GRCm38) missense probably damaging 1.00
R6352:Sdr16c5 UTSW 4 4,016,421 (GRCm38) missense probably benign 0.00
R7076:Sdr16c5 UTSW 4 4,006,591 (GRCm38) missense probably damaging 0.99
R9147:Sdr16c5 UTSW 4 3,996,200 (GRCm38) missense probably benign
R9722:Sdr16c5 UTSW 4 4,005,595 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-04-18