Incidental Mutation 'R3690:Dcx'
ID 269755
Institutional Source Beutler Lab
Gene Symbol Dcx
Ensembl Gene ENSMUSG00000031285
Gene Name doublecortin
Synonyms lissencephaly, X-linked (doublecortin), Dbct
MMRRC Submission 040685-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.450) question?
Stock # R3690 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 142638838-142716307 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142660240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 268 (E268G)
Ref Sequence ENSEMBL: ENSMUSP00000108477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033642] [ENSMUST00000087313] [ENSMUST00000112851] [ENSMUST00000112856]
AlphaFold O88809
Predicted Effect probably benign
Transcript: ENSMUST00000033642
AA Change: E268G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000033642
Gene: ENSMUSG00000031285
AA Change: E268G

DomainStartEndE-ValueType
DCX 48 139 3.09e-48 SMART
DCX 175 263 2.69e-39 SMART
low complexity region 349 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087313
AA Change: E268G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000084570
Gene: ENSMUSG00000031285
AA Change: E268G

DomainStartEndE-ValueType
DCX 48 139 3.09e-48 SMART
DCX 175 263 2.69e-39 SMART
low complexity region 349 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112851
AA Change: E268G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108472
Gene: ENSMUSG00000031285
AA Change: E268G

DomainStartEndE-ValueType
DCX 48 139 3.09e-48 SMART
DCX 175 263 2.69e-39 SMART
low complexity region 348 364 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112856
AA Change: E268G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108477
Gene: ENSMUSG00000031285
AA Change: E268G

DomainStartEndE-ValueType
DCX 48 139 3.09e-48 SMART
DCX 175 263 2.69e-39 SMART
low complexity region 343 359 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139920
Meta Mutation Damage Score 0.0599 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase. Studies in knockout mice lacking this gene and the LIS1 gene suggest that the molecular interaction of these two genes is important in both in neuronal migration and neurogenesis, and there is a cortical role of this gene in nuclear translocation and positioning of the mitotic spindle in radial glial mitotic division. Multiple transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Males hemizygous for a null allele are fertile but show branching and nucleokinesis defects in migrating interneurons. Males hemizygous for a reporter allele show severe postnatal lethality and variable fertility; both female and male mutants display hippocampal dyslamination and behavioral defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,091,328 (GRCm39) Y629F probably benign Het
Abcb5 T A 12: 118,836,668 (GRCm39) D1081V probably damaging Het
Afdn A G 17: 14,108,671 (GRCm39) E1398G probably damaging Het
Atp8b5 T C 4: 43,368,055 (GRCm39) C893R probably damaging Het
Avl9 C T 6: 56,713,812 (GRCm39) H357Y probably benign Het
Bclaf1 C T 10: 20,201,143 (GRCm39) T423I possibly damaging Het
Btbd19 A T 4: 116,977,789 (GRCm39) probably benign Het
Cap1 A G 4: 122,758,419 (GRCm39) S254P probably damaging Het
Cdc42ep1 T C 15: 78,731,629 (GRCm39) S25P probably benign Het
Cln6 T C 9: 62,754,252 (GRCm39) I98T possibly damaging Het
Cul9 T C 17: 46,814,957 (GRCm39) probably null Het
Ddias G A 7: 92,509,366 (GRCm39) P183L probably benign Het
Dnase2b A T 3: 146,299,326 (GRCm39) Y42* probably null Het
Dusp16 C T 6: 134,738,082 (GRCm39) probably benign Het
Egfr T C 11: 16,821,881 (GRCm39) probably benign Het
Fam171a1 T C 2: 3,227,393 (GRCm39) V842A probably benign Het
Folr1 T C 7: 101,507,745 (GRCm39) S232G probably benign Het
Foxj3 T C 4: 119,473,839 (GRCm39) probably benign Het
Fpr-rs6 T C 17: 20,403,137 (GRCm39) M75V probably benign Het
Fxyd5 G T 7: 30,735,864 (GRCm39) L128M possibly damaging Het
Gigyf2 T C 1: 87,349,238 (GRCm39) S500P possibly damaging Het
Inppl1 A G 7: 101,481,275 (GRCm39) L268P probably damaging Het
Klk1b24 A T 7: 43,841,243 (GRCm39) H192L probably benign Het
Llgl1 T G 11: 60,597,828 (GRCm39) Y316D probably damaging Het
Lmbrd1 T A 1: 24,801,374 (GRCm39) *143R probably null Het
Map3k15 T A X: 158,905,568 (GRCm39) N1295K possibly damaging Het
Mcm3ap A G 10: 76,318,513 (GRCm39) E678G probably damaging Het
Mrpl44 T A 1: 79,757,366 (GRCm39) Y270* probably null Het
Nav1 T A 1: 135,395,382 (GRCm39) I996L probably benign Het
Neb T C 2: 52,027,397 (GRCm39) E6868G probably damaging Het
Nexmif A T X: 103,131,213 (GRCm39) Y235N probably damaging Het
Nup50 C T 15: 84,823,994 (GRCm39) T449M probably damaging Het
Or14a256 G A 7: 86,265,686 (GRCm39) P56S probably damaging Het
Or2b6 A G 13: 21,823,508 (GRCm39) F62L probably damaging Het
Or51aa2 T C 7: 103,188,274 (GRCm39) T56A probably benign Het
Or52e8b A G 7: 104,673,902 (GRCm39) L95P probably damaging Het
Or52n2 T C 7: 104,542,724 (GRCm39) Y37C possibly damaging Het
Pald1 A T 10: 61,191,587 (GRCm39) probably null Het
Pde11a T A 2: 76,121,510 (GRCm39) K357I probably damaging Het
Ric3 A G 7: 108,637,817 (GRCm39) V312A possibly damaging Het
Scaper C T 9: 55,791,205 (GRCm39) G231D probably benign Het
Smc1b T A 15: 85,001,464 (GRCm39) probably benign Het
Smcr8 A G 11: 60,668,854 (GRCm39) M1V probably null Het
Smtn T C 11: 3,477,687 (GRCm39) probably benign Het
Spatc1 A T 15: 76,152,495 (GRCm39) K42* probably null Het
Taf7l A T X: 133,365,074 (GRCm39) I449K probably damaging Het
Tex47 A G 5: 7,354,777 (GRCm39) probably benign Het
Tram2 T A 1: 21,075,824 (GRCm39) Y198F probably damaging Het
Ttn C G 2: 76,629,588 (GRCm39) W14284C probably damaging Het
Ube3a A G 7: 58,926,547 (GRCm39) K442E probably damaging Het
Vmn2r116 T A 17: 23,603,798 (GRCm39) F8I unknown Het
Vmn2r59 A G 7: 41,661,370 (GRCm39) F815S possibly damaging Het
Zap70 T C 1: 36,820,493 (GRCm39) C563R probably damaging Het
Zfp579 T C 7: 4,997,719 (GRCm39) H64R probably damaging Het
Other mutations in Dcx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Dcx APN X 142,714,150 (GRCm39) missense possibly damaging 0.96
R1913:Dcx UTSW X 142,706,099 (GRCm39) missense probably damaging 1.00
R2897:Dcx UTSW X 142,706,428 (GRCm39) splice site probably benign
R3080:Dcx UTSW X 142,706,266 (GRCm39) missense probably damaging 1.00
R3115:Dcx UTSW X 142,706,105 (GRCm39) missense probably damaging 1.00
R3689:Dcx UTSW X 142,660,240 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- AAGTTTCATGTAGTGTGAAGGCTTC -3'
(R):5'- TAGATGTGAAGTTGTGCCCC -3'

Sequencing Primer
(F):5'- CTGGGAGATTGAGTTGACATATCAC -3'
(R):5'- GTGAAGTTGTGCCCCTTGACAAC -3'
Posted On 2015-02-19