Incidental Mutation 'R3882:Dstn'
ID 312807
Institutional Source Beutler Lab
Gene Symbol Dstn
Ensembl Gene ENSMUSG00000015932
Gene Name destrin
Synonyms corn1, sid23p, ADF, 2610043P17Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3882 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 143757251-143785244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143784107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 150 (E150G)
Ref Sequence ENSEMBL: ENSMUSP00000099461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103172]
AlphaFold Q9R0P5
Predicted Effect probably benign
Transcript: ENSMUST00000103172
AA Change: E150G

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099461
Gene: ENSMUSG00000015932
AA Change: E150G

DomainStartEndE-ValueType
ADF 19 153 2.67e-52 SMART
Meta Mutation Damage Score 0.2393 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (33/34)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 G T 9: 106,312,708 (GRCm39) T181K possibly damaging Het
Adcy4 A G 14: 56,012,003 (GRCm39) F581L probably benign Het
Amhr2 G A 15: 102,354,333 (GRCm39) G48D probably damaging Het
Angptl4 G A 17: 33,996,008 (GRCm39) P323S possibly damaging Het
Arhgef17 A G 7: 100,525,661 (GRCm39) F1979S possibly damaging Het
Bltp2 T A 11: 78,153,526 (GRCm39) W24R probably damaging Het
C2 T C 17: 35,092,465 (GRCm39) T191A probably benign Het
Cmya5 T A 13: 93,227,727 (GRCm39) T2454S probably benign Het
Dync1h1 G T 12: 110,595,492 (GRCm39) V1444F probably benign Het
Eif3f T C 7: 108,540,162 (GRCm39) V319A possibly damaging Het
Gpha2 T C 19: 6,276,919 (GRCm39) probably null Het
Hps5 A G 7: 46,421,420 (GRCm39) V648A possibly damaging Het
Jup A G 11: 100,269,207 (GRCm39) V402A probably benign Het
Kif18a A G 2: 109,137,319 (GRCm39) N517S probably benign Het
Kif20b T A 19: 34,927,480 (GRCm39) I874N probably damaging Het
Lepr T A 4: 101,672,462 (GRCm39) V1162E probably damaging Het
Man2a2 A T 7: 80,012,063 (GRCm39) V698D possibly damaging Het
Miip A C 4: 147,945,509 (GRCm39) S376A possibly damaging Het
Nsun7 G A 5: 66,435,983 (GRCm39) R285Q probably damaging Het
Nup210l T C 3: 90,031,517 (GRCm39) V281A probably benign Het
Paxip1 C T 5: 27,953,837 (GRCm39) R953Q probably damaging Het
Pcdha8 C A 18: 37,126,099 (GRCm39) L194I probably damaging Het
Pcdha8 A G 18: 37,126,624 (GRCm39) I369V probably benign Het
Pcdhga10 C A 18: 37,880,494 (GRCm39) A85E possibly damaging Het
Ppfibp1 A G 6: 146,899,719 (GRCm39) R137G possibly damaging Het
Rcor1 C T 12: 111,070,187 (GRCm39) A230V probably damaging Het
Scn3a T C 2: 65,312,623 (GRCm39) M1191V probably benign Het
Skor2 A G 18: 76,950,384 (GRCm39) D904G probably damaging Het
Suco A T 1: 161,662,313 (GRCm39) V706E probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Vmn1r83 A T 7: 12,055,329 (GRCm39) C243S probably damaging Het
Wdr17 A T 8: 55,092,536 (GRCm39) C1083S possibly damaging Het
Zfp952 G T 17: 33,220,949 (GRCm39) E18* probably null Het
Zfr G A 15: 12,162,319 (GRCm39) R823H probably benign Het
Zscan25 G T 5: 145,227,862 (GRCm39) G509C 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
R0849:Dstn UTSW 2 143,780,455 (GRCm39) missense probably benign 0.42
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
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'- GCTCACAAATCCTTCCTCAATG -3'
(R):5'- ACCAGTGAGACCTTAGAGGC -3'

Sequencing Primer
(F):5'- GAGTCATAACGGAATGTCCACTTGTG -3'
(R):5'- AGACCTTAGAGGCTGGATTTAGG -3'
Posted On 2015-04-30