Incidental Mutation 'R5863:Rdh16f2'
ID 454016
Institutional Source Beutler Lab
Gene Symbol Rdh16f2
Ensembl Gene ENSMUSG00000074639
Gene Name RDH16 family member 2
Synonyms BC089597
MMRRC Submission 043232-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5863 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 127702345-127713188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 127712256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 238 (I238L)
Ref Sequence ENSEMBL: ENSMUSP00000089691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092058]
AlphaFold Q8K3M1
Predicted Effect probably benign
Transcript: ENSMUST00000092058
AA Change: I238L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000089691
Gene: ENSMUSG00000074639
AA Change: I238L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:adh_short 30 221 4.8e-44 PFAM
Pfam:KR 31 206 4e-7 PFAM
Pfam:DUF1776 43 304 6.8e-10 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,580,287 (GRCm39) I204T possibly damaging Het
Abcc2 A G 19: 43,786,575 (GRCm39) I136V probably benign Het
Adam6a T C 12: 113,507,987 (GRCm39) I120T probably benign Het
Add3 C A 19: 53,222,301 (GRCm39) L303I probably benign Het
Anln A G 9: 22,249,280 (GRCm39) L149P probably damaging Het
Arhgef4 A G 1: 34,761,926 (GRCm39) E394G unknown Het
Asns G A 6: 7,675,443 (GRCm39) Q520* probably null Het
Auh T G 13: 53,052,694 (GRCm39) N141T probably benign Het
B3galt2 G A 1: 143,522,104 (GRCm39) R80Q probably benign Het
Bcl9 T C 3: 97,117,666 (GRCm39) T343A probably benign Het
C3 T A 17: 57,530,141 (GRCm39) I487F probably benign Het
Cast T C 13: 74,884,875 (GRCm39) K326E probably damaging Het
Ccdc185 T A 1: 182,576,122 (GRCm39) H189L possibly damaging Het
Cep112 A G 11: 108,497,058 (GRCm39) E51G probably damaging Het
Cpvl G A 6: 53,850,413 (GRCm39) P475S probably damaging Het
Cstf2t G T 19: 31,060,477 (GRCm39) L4F probably damaging Het
Dido1 A G 2: 180,303,566 (GRCm39) V1446A probably benign Het
Dlg2 T A 7: 91,360,987 (GRCm39) M35K probably benign Het
Dnah12 C T 14: 26,576,878 (GRCm39) L3043F probably damaging Het
Fam135a A G 1: 24,053,863 (GRCm39) S1225P possibly damaging Het
Fhod3 T C 18: 25,258,810 (GRCm39) F1443S probably benign Het
Flacc1 G T 1: 58,730,908 (GRCm39) H49Q probably benign Het
Gm14226 C A 2: 154,866,211 (GRCm39) T56N probably benign Het
Itgb4 C T 11: 115,881,748 (GRCm39) R766W probably damaging Het
Kcnj8 T A 6: 142,511,414 (GRCm39) I398F probably benign Het
Khdrbs1 G A 4: 129,616,493 (GRCm39) R284C probably damaging Het
Nog A G 11: 89,192,356 (GRCm39) L164P probably damaging Het
Or13a18 G A 7: 140,190,544 (GRCm39) G155D probably damaging Het
Or8c20 T C 9: 38,261,083 (GRCm39) S235P probably benign Het
Pkhd1 T A 1: 20,590,434 (GRCm39) Q1771L possibly damaging Het
Prl3c1 T A 13: 27,387,593 (GRCm39) *193K probably null Het
Prpf4b T A 13: 35,083,111 (GRCm39) I829N possibly damaging Het
Rassf1 C T 9: 107,435,023 (GRCm39) P103S probably damaging Het
Sdk2 G T 11: 113,725,810 (GRCm39) D1146E probably damaging Het
Slc16a3 T C 11: 120,848,779 (GRCm39) F412L probably benign Het
Slc24a1 T C 9: 64,835,824 (GRCm39) T768A unknown Het
Stk32a A G 18: 43,448,209 (GRCm39) N396S probably benign Het
Ston1 T C 17: 88,943,373 (GRCm39) S260P possibly damaging Het
Tmem135 A G 7: 88,797,176 (GRCm39) probably null Het
Tmem30c A G 16: 57,090,418 (GRCm39) V263A probably benign Het
Ttn T A 2: 76,587,102 (GRCm39) T21632S probably damaging Het
Ube2w A G 1: 16,655,531 (GRCm39) I141T probably damaging Het
Zbtb47 A G 9: 121,596,596 (GRCm39) S651G probably benign Het
Zscan20 A T 4: 128,480,141 (GRCm39) C783* probably null Het
Other mutations in Rdh16f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Rdh16f2 APN 10 127,702,533 (GRCm39) missense probably damaging 1.00
IGL00780:Rdh16f2 APN 10 127,710,961 (GRCm39) critical splice donor site probably null
R1448:Rdh16f2 UTSW 10 127,712,794 (GRCm39) missense probably benign
R1757:Rdh16f2 UTSW 10 127,712,765 (GRCm39) missense probably benign 0.01
R2245:Rdh16f2 UTSW 10 127,712,145 (GRCm39) missense probably damaging 1.00
R2484:Rdh16f2 UTSW 10 127,710,946 (GRCm39) missense probably damaging 1.00
R3613:Rdh16f2 UTSW 10 127,710,808 (GRCm39) missense probably benign 0.38
R4828:Rdh16f2 UTSW 10 127,710,823 (GRCm39) missense probably benign 0.09
R5109:Rdh16f2 UTSW 10 127,702,672 (GRCm39) missense probably damaging 1.00
R5153:Rdh16f2 UTSW 10 127,712,124 (GRCm39) missense possibly damaging 0.96
R5420:Rdh16f2 UTSW 10 127,712,943 (GRCm39) missense possibly damaging 0.94
R5448:Rdh16f2 UTSW 10 127,712,932 (GRCm39) missense probably benign 0.03
R5492:Rdh16f2 UTSW 10 127,702,623 (GRCm39) nonsense probably null
R5769:Rdh16f2 UTSW 10 127,712,758 (GRCm39) missense probably benign 0.01
R6003:Rdh16f2 UTSW 10 127,712,201 (GRCm39) missense probably benign 0.02
R6063:Rdh16f2 UTSW 10 127,712,743 (GRCm39) missense probably benign 0.01
R7365:Rdh16f2 UTSW 10 127,712,893 (GRCm39) missense probably damaging 0.98
R7446:Rdh16f2 UTSW 10 127,712,767 (GRCm39) missense probably benign
R8305:Rdh16f2 UTSW 10 127,712,864 (GRCm39) missense probably damaging 1.00
R8911:Rdh16f2 UTSW 10 127,712,812 (GRCm39) missense probably damaging 1.00
R9357:Rdh16f2 UTSW 10 127,712,915 (GRCm39) missense possibly damaging 0.62
X0023:Rdh16f2 UTSW 10 127,702,675 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCCTTTCCTCATCACAGG -3'
(R):5'- ACAAGAATTCCTTTCTGACCCC -3'

Sequencing Primer
(F):5'- TCTCACTGAAAGATCTCTGAAGTCC -3'
(R):5'- AGAATTCCTTTCTGACCCCAAACTC -3'
Posted On 2017-02-10