Incidental Mutation 'R4418:Dctn2'
ID 326950
Institutional Source Beutler Lab
Gene Symbol Dctn2
Ensembl Gene ENSMUSG00000025410
Gene Name dynactin 2
Synonyms DCTN-50, C130077D06Rik, 2310042E05Rik, RBP50, p50
MMRRC Submission 041139-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4418 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127102237-127117819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 127114234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 360 (M360R)
Ref Sequence ENSEMBL: ENSMUSP00000026479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026476] [ENSMUST00000026479] [ENSMUST00000119078]
AlphaFold Q99KJ8
Predicted Effect probably benign
Transcript: ENSMUST00000026476
SMART Domains Protein: ENSMUSP00000026476
Gene: ENSMUSG00000025409

DomainStartEndE-ValueType
Blast:MBD 26 79 8e-10 BLAST
low complexity region 80 94 N/A INTRINSIC
low complexity region 140 155 N/A INTRINSIC
low complexity region 183 197 N/A INTRINSIC
low complexity region 212 229 N/A INTRINSIC
low complexity region 247 262 N/A INTRINSIC
low complexity region 269 295 N/A INTRINSIC
low complexity region 311 342 N/A INTRINSIC
low complexity region 347 378 N/A INTRINSIC
low complexity region 383 428 N/A INTRINSIC
low complexity region 442 455 N/A INTRINSIC
low complexity region 461 498 N/A INTRINSIC
low complexity region 500 517 N/A INTRINSIC
low complexity region 533 563 N/A INTRINSIC
low complexity region 566 634 N/A INTRINSIC
low complexity region 636 652 N/A INTRINSIC
low complexity region 653 674 N/A INTRINSIC
low complexity region 676 686 N/A INTRINSIC
low complexity region 733 799 N/A INTRINSIC
low complexity region 815 849 N/A INTRINSIC
low complexity region 853 890 N/A INTRINSIC
low complexity region 949 958 N/A INTRINSIC
low complexity region 978 1002 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000026479
AA Change: M360R

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000026479
Gene: ENSMUSG00000025410
AA Change: M360R

DomainStartEndE-ValueType
Pfam:Dynamitin 16 400 7.1e-129 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119078
SMART Domains Protein: ENSMUSP00000112805
Gene: ENSMUSG00000025409

DomainStartEndE-ValueType
Blast:MBD 26 79 8e-10 BLAST
low complexity region 80 94 N/A INTRINSIC
low complexity region 140 155 N/A INTRINSIC
low complexity region 183 197 N/A INTRINSIC
low complexity region 212 229 N/A INTRINSIC
low complexity region 247 262 N/A INTRINSIC
low complexity region 269 295 N/A INTRINSIC
low complexity region 311 342 N/A INTRINSIC
low complexity region 347 378 N/A INTRINSIC
low complexity region 383 428 N/A INTRINSIC
low complexity region 442 455 N/A INTRINSIC
low complexity region 461 498 N/A INTRINSIC
low complexity region 500 517 N/A INTRINSIC
low complexity region 533 563 N/A INTRINSIC
low complexity region 566 634 N/A INTRINSIC
low complexity region 636 652 N/A INTRINSIC
low complexity region 653 674 N/A INTRINSIC
low complexity region 676 686 N/A INTRINSIC
low complexity region 733 798 N/A INTRINSIC
low complexity region 813 847 N/A INTRINSIC
low complexity region 851 888 N/A INTRINSIC
low complexity region 947 956 N/A INTRINSIC
low complexity region 976 1000 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126243
SMART Domains Protein: ENSMUSP00000115238
Gene: ENSMUSG00000025409

DomainStartEndE-ValueType
low complexity region 1 26 N/A INTRINSIC
low complexity region 31 76 N/A INTRINSIC
low complexity region 90 103 N/A INTRINSIC
low complexity region 109 146 N/A INTRINSIC
low complexity region 148 165 N/A INTRINSIC
low complexity region 181 211 N/A INTRINSIC
low complexity region 214 282 N/A INTRINSIC
low complexity region 284 300 N/A INTRINSIC
low complexity region 301 322 N/A INTRINSIC
low complexity region 324 334 N/A INTRINSIC
low complexity region 381 446 N/A INTRINSIC
low complexity region 462 496 N/A INTRINSIC
low complexity region 500 537 N/A INTRINSIC
low complexity region 596 610 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136169
SMART Domains Protein: ENSMUSP00000122504
Gene: ENSMUSG00000025409

DomainStartEndE-ValueType
low complexity region 55 64 N/A INTRINSIC
low complexity region 84 108 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154851
SMART Domains Protein: ENSMUSP00000133835
Gene: ENSMUSG00000025409

DomainStartEndE-ValueType
low complexity region 2 61 N/A INTRINSIC
low complexity region 72 81 N/A INTRINSIC
low complexity region 101 125 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218752
Meta Mutation Damage Score 0.1339 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 95% (72/76)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik A G 1: 159,872,372 (GRCm39) noncoding transcript Het
Acot12 A G 13: 91,932,524 (GRCm39) T507A possibly damaging Het
Agap2 T G 10: 126,927,519 (GRCm39) C1113W probably damaging Het
Ap3s1-ps2 A T 8: 95,131,921 (GRCm39) noncoding transcript Het
B3gnt3 T C 8: 72,146,413 (GRCm39) R39G probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cdcp3 A T 7: 130,849,194 (GRCm39) D899V possibly damaging Het
Chad C T 11: 94,458,663 (GRCm39) H271Y possibly damaging Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Col6a1 T A 10: 76,554,239 (GRCm39) K323* probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dclre1c T C 2: 3,453,972 (GRCm39) F285S possibly damaging Het
Dele1 T C 18: 38,394,340 (GRCm39) probably null Het
Dgka A T 10: 128,563,963 (GRCm39) L462Q probably damaging Het
Drg2 A C 11: 60,358,972 (GRCm39) K364T probably damaging Het
Dync1li1 T A 9: 114,535,238 (GRCm39) S167R probably damaging Het
Entrep1 T C 19: 23,956,799 (GRCm39) T365A probably benign Het
Fer A T 17: 64,336,286 (GRCm39) D554V possibly damaging Het
Fignl2 A G 15: 100,951,830 (GRCm39) S151P possibly damaging Het
Gbgt1 A G 2: 28,388,420 (GRCm39) Y35C probably damaging Het
Gm6526 T A 14: 43,986,302 (GRCm39) I79K probably damaging Het
Gpr6 T G 10: 40,946,604 (GRCm39) N326T probably damaging Het
H2bc4 C T 13: 23,868,486 (GRCm39) T91M probably damaging Het
Hcn4 C T 9: 58,751,178 (GRCm39) T268M probably benign Het
Hnf4g A G 3: 3,713,154 (GRCm39) M243V possibly damaging Het
Homer1 A G 13: 93,538,577 (GRCm39) E314G probably damaging Het
Hs6st1 T C 1: 36,143,108 (GRCm39) Y348H probably damaging Het
Ifitm6 A T 7: 140,595,984 (GRCm39) I103N probably damaging Het
Ipo5 T G 14: 121,181,305 (GRCm39) C944G possibly damaging Het
Kcnb1 C A 2: 166,947,595 (GRCm39) E418* probably null Het
Kcnk2 G A 1: 188,988,924 (GRCm39) R207C probably damaging Het
Kctd8 T C 5: 69,498,505 (GRCm39) E47G probably damaging Het
Klhdc2 C T 12: 69,354,371 (GRCm39) probably benign Het
Lrrc37 T C 11: 103,509,140 (GRCm39) probably benign Het
Mgat1 A G 11: 49,152,072 (GRCm39) Y185C probably damaging Het
Mmp25 T A 17: 23,863,044 (GRCm39) R122S probably damaging Het
Mrpl39 C A 16: 84,522,012 (GRCm39) probably null Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nek1 T C 8: 61,559,898 (GRCm39) F1007S probably damaging Het
Neto1 T C 18: 86,422,981 (GRCm39) M146T probably benign Het
Opn1sw G A 6: 29,379,423 (GRCm39) R45* probably null Het
Osbpl5 A T 7: 143,263,552 (GRCm39) C98* probably null Het
Pacc1 T A 1: 191,080,629 (GRCm39) V283E probably damaging Het
Pcdhb7 C T 18: 37,476,535 (GRCm39) A557V probably benign Het
Pecam1 A G 11: 106,586,748 (GRCm39) F155L possibly damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pmfbp1 C A 8: 110,257,265 (GRCm39) Q609K probably benign Het
Pnpo A T 11: 96,831,795 (GRCm39) probably null Het
Ppp2cb G A 8: 34,107,077 (GRCm39) R254Q probably benign Het
Qser1 A T 2: 104,619,766 (GRCm39) S349T probably damaging Het
Rnf167 T A 11: 70,538,743 (GRCm39) W17R probably damaging Het
Rpl21-ps4 A G 14: 11,227,879 (GRCm38) noncoding transcript Het
Rxfp2 A T 5: 149,972,265 (GRCm39) H158L probably benign Het
Ryr3 C T 2: 112,661,569 (GRCm39) C1807Y probably damaging Het
Scaper T A 9: 55,745,464 (GRCm39) E601D probably damaging Het
Secisbp2l A T 2: 125,594,835 (GRCm39) C542S probably benign Het
Slc6a19 A G 13: 73,832,514 (GRCm39) V393A possibly damaging Het
Stil A G 4: 114,866,574 (GRCm39) N176S probably benign Het
Tap1 T A 17: 34,407,353 (GRCm39) probably null Het
Tcl1b3 A T 12: 105,159,844 (GRCm39) Q105L probably damaging Het
Trappc10 G T 10: 78,053,022 (GRCm39) A251D probably damaging Het
Trim43a G T 9: 88,464,206 (GRCm39) C39F probably damaging Het
Ttn A T 2: 76,719,825 (GRCm39) probably benign Het
Vmn2r110 A T 17: 20,803,951 (GRCm39) L208* probably null Het
Vmn2r88 G T 14: 51,655,538 (GRCm39) L583F probably damaging Het
Wasf1 C T 10: 40,812,578 (GRCm39) H456Y unknown Het
Zfp120 A G 2: 149,960,105 (GRCm39) I73T possibly damaging Het
Zfp990 T C 4: 145,263,298 (GRCm39) C99R possibly damaging Het
Other mutations in Dctn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Dctn2 APN 10 127,113,559 (GRCm39) unclassified probably benign
IGL01749:Dctn2 APN 10 127,117,286 (GRCm39) missense possibly damaging 0.47
IGL01797:Dctn2 APN 10 127,113,182 (GRCm39) missense possibly damaging 0.94
IGL02021:Dctn2 APN 10 127,110,926 (GRCm39) critical splice donor site probably null
IGL02335:Dctn2 APN 10 127,111,690 (GRCm39) splice site probably benign
IGL02748:Dctn2 APN 10 127,113,142 (GRCm39) missense probably damaging 1.00
IGL03382:Dctn2 APN 10 127,114,057 (GRCm39) missense probably damaging 0.99
R0069:Dctn2 UTSW 10 127,113,354 (GRCm39) splice site probably null
R0069:Dctn2 UTSW 10 127,113,354 (GRCm39) splice site probably null
R0621:Dctn2 UTSW 10 127,113,809 (GRCm39) critical splice donor site probably null
R1114:Dctn2 UTSW 10 127,114,011 (GRCm39) splice site probably null
R1917:Dctn2 UTSW 10 127,110,918 (GRCm39) nonsense probably null
R2238:Dctn2 UTSW 10 127,112,257 (GRCm39) missense probably damaging 0.97
R4097:Dctn2 UTSW 10 127,113,362 (GRCm39) missense probably damaging 1.00
R4972:Dctn2 UTSW 10 127,112,572 (GRCm39) missense probably damaging 1.00
R6873:Dctn2 UTSW 10 127,112,105 (GRCm39) splice site probably null
R7533:Dctn2 UTSW 10 127,103,347 (GRCm39) missense possibly damaging 0.87
R7557:Dctn2 UTSW 10 127,114,273 (GRCm39) missense probably benign 0.44
R7657:Dctn2 UTSW 10 127,102,383 (GRCm39) missense probably damaging 1.00
R8218:Dctn2 UTSW 10 127,112,398 (GRCm39) missense probably damaging 0.97
R8557:Dctn2 UTSW 10 127,114,062 (GRCm39) missense probably damaging 1.00
R9344:Dctn2 UTSW 10 127,114,084 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATGAGACCATCCAGCGCTG -3'
(R):5'- GGCACAAAGGTCCTACAACTATG -3'

Sequencing Primer
(F):5'- TGGTACAGCGACTTGTCAC -3'
(R):5'- TGAAAACAGAATTGACATTCAAAGCC -3'
Posted On 2015-07-07