Incidental Mutation 'R2897:Dcx'
ID 260887
Institutional Source Beutler Lab
Gene Symbol Dcx
Ensembl Gene ENSMUSG00000031285
Gene Name doublecortin
Synonyms lissencephaly, X-linked (doublecortin), Dbct
MMRRC Submission 040485-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.450) question?
Stock # R2897 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 142638838-142716307 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 142706428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000033642
Gene: ENSMUSG00000031285

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
SMART Domains Protein: ENSMUSP00000084570
Gene: ENSMUSG00000031285

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
SMART Domains Protein: ENSMUSP00000108472
Gene: ENSMUSG00000031285

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 probably benign
Transcript: ENSMUST00000112856
SMART Domains Protein: ENSMUSP00000108477
Gene: ENSMUSG00000031285

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 99% (72/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,471,640 (GRCm39) V1015A probably benign Het
4930480E11Rik C T X: 77,413,868 (GRCm39) Q198* probably null Het
Acap3 G C 4: 155,989,388 (GRCm39) probably null Het
Adamts14 T C 10: 61,040,689 (GRCm39) D879G probably damaging Het
Akap1 A T 11: 88,735,605 (GRCm39) C352* probably null Het
Ankk1 T A 9: 49,333,122 (GRCm39) T121S probably benign Het
Ankrd6 T C 4: 32,860,438 (GRCm39) S2G probably damaging Het
Anks1 G T 17: 28,204,337 (GRCm39) probably null Het
Apob G A 12: 8,060,356 (GRCm39) G2946D probably damaging Het
Atm A C 9: 53,419,105 (GRCm39) C782W probably damaging Het
Atp1a4 A T 1: 172,074,257 (GRCm39) I332N probably damaging Het
Bnc2 T C 4: 84,211,152 (GRCm39) I406V probably damaging Het
Cdh20 A T 1: 104,875,199 (GRCm39) D327V probably damaging Het
Cep192 T A 18: 67,988,341 (GRCm39) probably null Het
Chd5 T C 4: 152,456,572 (GRCm39) F970L probably damaging Het
Coq9 T C 8: 95,579,752 (GRCm39) Y236H probably damaging Het
Csn1s2a A G 5: 87,929,680 (GRCm39) H93R unknown Het
Cxcr2 T C 1: 74,198,130 (GRCm39) V208A probably benign Het
Cyp1b1 G A 17: 80,021,160 (GRCm39) T194M probably benign Het
Dbt T A 3: 116,317,061 (GRCm39) V79E probably damaging Het
Dnm3 G A 1: 162,113,643 (GRCm39) probably benign Het
Erbin C T 13: 104,022,705 (GRCm39) E45K probably damaging Het
Fastkd1 A G 2: 69,532,960 (GRCm39) L469P probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm10271 A G 10: 116,808,495 (GRCm39) L7S probably damaging Het
Gm5087 T C 14: 13,158,805 (GRCm38) noncoding transcript Het
Hid1 A G 11: 115,241,356 (GRCm39) S645P probably benign Het
Hmcn1 C T 1: 150,678,624 (GRCm39) C499Y probably damaging Het
Ifna1 C A 4: 88,768,450 (GRCm39) Q43K probably benign Het
Ikbkb G T 8: 23,159,693 (GRCm39) Q432K possibly damaging Het
Inpp4a A T 1: 37,405,675 (GRCm39) H148L probably benign Het
Itpr2 C T 6: 146,074,839 (GRCm39) R2338Q probably benign Het
Itpr2 A T 6: 146,224,667 (GRCm39) I1441N probably damaging Het
Krt78 T C 15: 101,855,541 (GRCm39) R757G probably benign Het
Lmx1a T A 1: 167,658,109 (GRCm39) probably benign Het
Lpxn T A 19: 12,796,722 (GRCm39) S81T probably benign Het
Lrriq1 T C 10: 103,063,111 (GRCm39) N65S probably damaging Het
Mis18bp1 T C 12: 65,180,360 (GRCm39) D981G probably benign Het
Mpp4 T C 1: 59,183,853 (GRCm39) I296V probably benign Het
Mtrf1l T C 10: 5,767,565 (GRCm39) R184G probably benign Het
Muc19 T C 15: 91,822,550 (GRCm39) noncoding transcript Het
Myo6 T A 9: 80,176,893 (GRCm39) probably null Het
Myom1 A G 17: 71,408,215 (GRCm39) probably benign Het
Ndrg4 A G 8: 96,405,014 (GRCm39) probably null Het
Neu2 A G 1: 87,522,782 (GRCm39) S72G probably benign Het
Nlrc4 T A 17: 74,755,040 (GRCm39) M59L probably benign Het
Nuak2 A T 1: 132,252,791 (GRCm39) H115L probably damaging Het
Oog1 T A 12: 87,655,178 (GRCm39) I272K probably damaging Het
Or10aa1 T C 1: 173,869,699 (GRCm39) F61S probably damaging Het
Or52a20 A T 7: 103,366,749 (GRCm39) Y316F probably benign Het
Pcdhb1 A G 18: 37,399,516 (GRCm39) Y489C probably damaging Het
Pde5a T C 3: 122,572,651 (GRCm39) I344T probably benign Het
Pip5kl1 C A 2: 32,473,359 (GRCm39) A332D probably benign Het
Pja1 T C X: 98,510,754 (GRCm39) E385G probably benign Het
Psma6 A T 12: 55,454,829 (GRCm39) I53L probably benign Het
Ric8b T G 10: 84,783,761 (GRCm39) D206E probably benign Het
Sardh T C 2: 27,079,559 (GRCm39) D911G probably benign Het
Serpinb8 A G 1: 107,534,776 (GRCm39) T32A unknown Het
Shroom2 G T X: 151,443,035 (GRCm39) T710K probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc38a7 A G 8: 96,572,424 (GRCm39) probably benign Het
Stk36 T A 1: 74,671,984 (GRCm39) S895T probably null Het
Sycp3 G A 10: 88,308,544 (GRCm39) E205K possibly damaging Het
Tbc1d16 A T 11: 119,048,654 (GRCm39) I333N probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tmeff1 T A 4: 48,658,831 (GRCm39) Y101* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ttn T A 2: 76,549,500 (GRCm39) T23399S probably damaging Het
Vipas39 A G 12: 87,289,297 (GRCm39) V389A possibly damaging Het
Vps41 T C 13: 18,994,598 (GRCm39) probably benign Het
Zfp329 A T 7: 12,544,413 (GRCm39) H370Q probably damaging Het
Zfp37 C T 4: 62,110,014 (GRCm39) G350D 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
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
R3690:Dcx UTSW X 142,660,240 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- ACAAAGTCCTTGTTCTCTCTGG -3'
(R):5'- TGAGGTTCTTCCCCTAGCTATG -3'

Sequencing Primer
(F):5'- AAAGTCCTTGTTCTCTCTGGCTTGAG -3'
(R):5'- CCCTAGCTATGCCATTGTATTGAAGG -3'
Posted On 2015-01-23