Incidental Mutation 'R0849:Dstn'
ID 77049
Institutional Source Beutler Lab
Gene Symbol Dstn
Ensembl Gene ENSMUSG00000015932
Gene Name destrin
Synonyms corn1, sid23p, ADF, 2610043P17Rik
MMRRC Submission 039028-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0849 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 143757251-143785244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 143780455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 52 (G52S)
Ref Sequence ENSEMBL: ENSMUSP00000099461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103172]
AlphaFold Q9R0P5
Predicted Effect probably benign
Transcript: ENSMUST00000103172
AA Change: G52S

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099461
Gene: ENSMUSG00000015932
AA Change: G52S

DomainStartEndE-ValueType
ADF 19 153 2.67e-52 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 92.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice carrying mutations at this locus develop irregular thickening of the corneal epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 T C 12: 52,566,406 (GRCm39) F1126L probably benign Het
Arhgef11 G T 3: 87,643,203 (GRCm39) A1472S probably benign Het
Armc9 G A 1: 86,184,992 (GRCm39) R681K probably benign Het
Atxn2 T A 5: 121,885,484 (GRCm39) probably null Het
B3gnt6 C A 7: 97,843,950 (GRCm39) L3F probably benign Het
Cand2 A G 6: 115,769,352 (GRCm39) T721A probably damaging Het
Cntn2 A T 1: 132,450,124 (GRCm39) M590K probably benign Het
Cntn4 A T 6: 106,644,418 (GRCm39) D622V probably damaging Het
Des T G 1: 75,337,272 (GRCm39) S71A probably benign Het
Dnah5 C A 15: 28,263,745 (GRCm39) R827S probably damaging Het
Eln T A 5: 134,736,835 (GRCm39) R704* probably null Het
Fezf2 T A 14: 12,342,607 (GRCm38) K419N probably damaging Het
Gm2381 G A 7: 42,469,372 (GRCm39) Q251* probably null Het
Grin3a G A 4: 49,665,501 (GRCm39) R1045* probably null Het
Herc2 T A 7: 55,856,326 (GRCm39) H3921Q probably damaging Het
Hs3st2 A G 7: 121,100,255 (GRCm39) E367G possibly damaging Het
Hydin G A 8: 111,325,616 (GRCm39) R4675H probably damaging Het
Inhca A C 9: 103,140,256 (GRCm39) Y488D possibly damaging Het
Irf2bp1 T C 7: 18,738,659 (GRCm39) S100P possibly damaging Het
Itga10 A G 3: 96,559,846 (GRCm39) I500M possibly damaging Het
Kcnt2 T C 1: 140,435,500 (GRCm39) V496A probably damaging Het
Mansc1 T C 6: 134,587,670 (GRCm39) D169G probably benign Het
Mdn1 T A 4: 32,741,835 (GRCm39) S3869T probably damaging Het
Mrgprb4 G A 7: 47,848,868 (GRCm39) T20I probably benign Het
Nek4 A G 14: 30,679,253 (GRCm39) E198G probably damaging Het
Or12e8 G T 2: 87,188,609 (GRCm39) V274L probably benign Het
Or2y10 G A 11: 49,455,129 (GRCm39) C127Y probably damaging Het
Or5w11 C A 2: 87,459,626 (GRCm39) T273K possibly damaging Het
Ppfia4 A T 1: 134,247,110 (GRCm39) F537I probably benign Het
Rarb A G 14: 16,434,293 (GRCm38) V295A probably damaging Het
Ryr1 A G 7: 28,740,104 (GRCm39) S3941P probably damaging Het
Scnn1b A G 7: 121,511,698 (GRCm39) N370S probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Sv2c C T 13: 96,126,319 (GRCm39) G311D probably damaging Het
Tas2r109 T C 6: 132,957,856 (GRCm39) I25V probably benign Het
Tbcel A C 9: 42,348,453 (GRCm39) I305S probably damaging Het
Tmem35b A G 4: 127,019,990 (GRCm39) probably null Het
Tmem38b T C 4: 53,840,765 (GRCm39) L60S probably damaging Het
Tmtc4 A G 14: 123,182,966 (GRCm39) I244T possibly damaging Het
Usp9y C A Y: 1,394,002 (GRCm39) C576F probably damaging Het
Vcan A T 13: 89,853,072 (GRCm39) N629K possibly damaging Het
Vmn2r22 T C 6: 123,614,363 (GRCm39) Y409C probably damaging Het
Vmn2r-ps158 A G 7: 42,674,142 (GRCm39) Y400C probably damaging Het
Other mutations in Dstn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Dstn APN 2 143,784,094 (GRCm39) missense probably benign
R0655:Dstn UTSW 2 143,780,342 (GRCm39) missense probably damaging 1.00
R1405:Dstn UTSW 2 143,780,356 (GRCm39) missense probably damaging 1.00
R1405:Dstn UTSW 2 143,780,356 (GRCm39) missense probably damaging 1.00
R1460:Dstn UTSW 2 143,780,408 (GRCm39) missense possibly damaging 0.78
R1541:Dstn UTSW 2 143,780,408 (GRCm39) missense possibly damaging 0.78
R3882:Dstn UTSW 2 143,784,107 (GRCm39) missense probably benign 0.20
R6419:Dstn UTSW 2 143,781,907 (GRCm39) missense possibly damaging 0.75
R7402:Dstn UTSW 2 143,780,368 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCCAATCTGTAGCCAAAATGCAGTG -3'
(R):5'- TCCTAGTGCTCACCACAGGAAGAAC -3'

Sequencing Primer
(F):5'- AGAGTTGTAAGCTCTTTTGCAC -3'
(R):5'- GAAGAACATCAGCTCTTCTTTCCTG -3'
Posted On 2013-10-16