Incidental Mutation 'IGL02335:Dctn2'
ID 289709
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dctn2
Ensembl Gene ENSMUSG00000025410
Gene Name dynactin 2
Synonyms RBP50, p50, DCTN-50, C130077D06Rik, 2310042E05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02335
Quality Score
Status
Chromosome 10
Chromosomal Location 127266368-127281950 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 127275821 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026479]
AlphaFold Q99KJ8
Predicted Effect probably benign
Transcript: ENSMUST00000026479
SMART Domains Protein: ENSMUSP00000026479
Gene: ENSMUSG00000025410

DomainStartEndE-ValueType
Pfam:Dynamitin 16 400 7.1e-129 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220418
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 50-kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 4-5 copies per dynactin molecule. It contains three short alpha-helical coiled-coil domains that may mediate association with self or other dynactin subunits. It may interact directly with the largest subunit (p150) of dynactin and may affix p150 in place. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2012]
Allele List at MGI

All alleles(28) : Targeted(3) Gene trapped(25)
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt C T 9: 99,620,213 (GRCm38) T142I probably benign Het
Aadacl2fm2 G A 3: 59,743,605 (GRCm38) M49I probably benign Het
Acaca A G 11: 84,214,258 (GRCm38) T147A possibly damaging Het
Agbl3 A G 6: 34,799,750 (GRCm38) D397G probably damaging Het
Ank1 C T 8: 23,135,638 (GRCm38) T1597M possibly damaging Het
Arl4d A G 11: 101,666,929 (GRCm38) T94A possibly damaging Het
Cd22 A G 7: 30,876,134 (GRCm38) I161T probably damaging Het
Clcn7 C T 17: 25,146,847 (GRCm38) L166F probably benign Het
Cnbd1 G T 4: 19,055,095 (GRCm38) N110K possibly damaging Het
Col14a1 A T 15: 55,463,769 (GRCm38) probably benign Het
Col6a6 C T 9: 105,784,101 (GRCm38) V270M probably damaging Het
Cox8b C A 7: 140,899,077 (GRCm38) G42W probably damaging Het
Csn1s1 A T 5: 87,680,845 (GRCm38) D275V probably benign Het
Cubn T A 2: 13,427,834 (GRCm38) probably null Het
Dnm1l A G 16: 16,342,740 (GRCm38) probably benign Het
Dpp4 T C 2: 62,334,644 (GRCm38) E687G probably benign Het
Fbxw20 T C 9: 109,223,309 (GRCm38) K249E possibly damaging Het
Fhl2 C T 1: 43,128,390 (GRCm38) W181* probably null Het
G2e3 T A 12: 51,369,158 (GRCm38) M559K probably benign Het
Gdap1l1 A T 2: 163,447,595 (GRCm38) Y160F possibly damaging Het
Gm1110 T C 9: 26,881,763 (GRCm38) I572M probably benign Het
Gpatch2l T A 12: 86,256,937 (GRCm38) probably benign Het
Kcnq4 A G 4: 120,715,854 (GRCm38) L250P probably damaging Het
Lamc2 A T 1: 153,166,216 (GRCm38) N57K probably benign Het
Lingo1 A G 9: 56,620,081 (GRCm38) L408P probably damaging Het
Mmrn1 A T 6: 60,977,147 (GRCm38) N804I possibly damaging Het
Mroh7 A G 4: 106,707,782 (GRCm38) L545S probably damaging Het
Nup188 T A 2: 30,323,636 (GRCm38) probably null Het
Or10q1 A G 19: 13,749,934 (GRCm38) D276G probably benign Het
Or11a4 A G 17: 37,225,326 (GRCm38) N67S probably damaging Het
Or5b94 T C 19: 12,674,238 (GRCm38) I11T probably damaging Het
Pls1 A T 9: 95,784,183 (GRCm38) N138K probably benign Het
Prkch C A 12: 73,702,512 (GRCm38) N345K probably benign Het
Reps1 T C 10: 18,056,117 (GRCm38) probably null Het
Rrp7a T C 15: 83,122,691 (GRCm38) E15G probably benign Het
Scart2 A T 7: 140,296,540 (GRCm38) N526Y probably damaging Het
Scn1a T A 2: 66,277,661 (GRCm38) T1557S possibly damaging Het
Smtn T C 11: 3,526,215 (GRCm38) E602G probably damaging Het
Syvn1 T C 19: 6,050,093 (GRCm38) probably null Het
Tbxas1 A G 6: 39,023,080 (GRCm38) D267G probably damaging Het
Topbp1 A G 9: 103,328,523 (GRCm38) N787D probably damaging Het
Vmn2r22 T G 6: 123,638,092 (GRCm38) S180R probably damaging Het
Zfp345 T A 2: 150,474,543 (GRCm38) E48D possibly damaging Het
Zfp608 G A 18: 54,897,437 (GRCm38) Q1144* probably null Het
Zfp936 T A 7: 43,187,267 (GRCm38) L34Q probably damaging Het
Other mutations in Dctn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Dctn2 APN 10 127,277,690 (GRCm38) unclassified probably benign
IGL01749:Dctn2 APN 10 127,281,417 (GRCm38) missense possibly damaging 0.47
IGL01797:Dctn2 APN 10 127,277,313 (GRCm38) missense possibly damaging 0.94
IGL02021:Dctn2 APN 10 127,275,057 (GRCm38) critical splice donor site probably null
IGL02748:Dctn2 APN 10 127,277,273 (GRCm38) missense probably damaging 1.00
IGL03382:Dctn2 APN 10 127,278,188 (GRCm38) missense probably damaging 0.99
R0069:Dctn2 UTSW 10 127,277,485 (GRCm38) splice site probably null
R0069:Dctn2 UTSW 10 127,277,485 (GRCm38) splice site probably null
R0621:Dctn2 UTSW 10 127,277,940 (GRCm38) critical splice donor site probably null
R1114:Dctn2 UTSW 10 127,278,142 (GRCm38) splice site probably null
R1917:Dctn2 UTSW 10 127,275,049 (GRCm38) nonsense probably null
R2238:Dctn2 UTSW 10 127,276,388 (GRCm38) missense probably damaging 0.97
R4097:Dctn2 UTSW 10 127,277,493 (GRCm38) missense probably damaging 1.00
R4418:Dctn2 UTSW 10 127,278,365 (GRCm38) missense probably benign 0.24
R4972:Dctn2 UTSW 10 127,276,703 (GRCm38) missense probably damaging 1.00
R6873:Dctn2 UTSW 10 127,276,236 (GRCm38) splice site probably null
R7533:Dctn2 UTSW 10 127,267,478 (GRCm38) missense possibly damaging 0.87
R7557:Dctn2 UTSW 10 127,278,404 (GRCm38) missense probably benign 0.44
R7657:Dctn2 UTSW 10 127,266,514 (GRCm38) missense probably damaging 1.00
R8218:Dctn2 UTSW 10 127,276,529 (GRCm38) missense probably damaging 0.97
R8557:Dctn2 UTSW 10 127,278,193 (GRCm38) missense probably damaging 1.00
R9344:Dctn2 UTSW 10 127,278,215 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16