Mutagenetix > Incidental Mutation

Incidental Mutation 'R0621:Dctn2'

58678

Institutional Source

Beutler Lab

Gene Symbol

Dctn2

Ensembl Gene

ENSMUSG00000025410

Gene Name

dynactin 2

Synonyms

DCTN-50, C130077D06Rik, 2310042E05Rik, RBP50, p50

MMRRC Submission

038810-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0621 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

127102237-127117819 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 127113809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000026479

SMART Domains

Protein: ENSMUSP00000026479
Gene: ENSMUSG00000025410

Domain	Start	End	E-Value	Type
Pfam:Dynamitin	16	400	7.1e-129	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119078

SMART Domains

Protein: ENSMUSP00000112805
Gene: ENSMUSG00000025409

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	T	C	11: 76,399,898 (GRCm39)	D33G	probably damaging	Het
Adgre1	T	A	17: 57,748,359 (GRCm39)	S520T	probably damaging	Het
Afg2a	C	T	3: 37,486,178 (GRCm39)	T300I	probably benign	Het
Ankrd40	A	G	11: 94,230,433 (GRCm39)		probably null	Het
Aph1b	A	T	9: 66,686,616 (GRCm39)	I177K	possibly damaging	Het
Armc3	A	T	2: 19,300,204 (GRCm39)	N579I	probably damaging	Het
Atxn7l1	T	C	12: 33,376,099 (GRCm39)	V131A	probably benign	Het
C130073F10Rik	A	G	4: 101,747,992 (GRCm39)	Y61H	probably damaging	Het
C1s2	A	T	6: 124,608,071 (GRCm39)	L214Q	probably damaging	Het
Caprin2	A	T	6: 148,760,176 (GRCm39)	S425T	possibly damaging	Het
Cdc42ep4	G	A	11: 113,619,522 (GRCm39)	R290C	probably damaging	Het
Cenpf	T	C	1: 189,404,825 (GRCm39)	T352A	probably benign	Het
Col6a4	A	T	9: 105,943,990 (GRCm39)	F1161L	probably damaging	Het
Ddx24	T	C	12: 103,391,817 (GRCm39)		probably benign	Het
Dsg1c	C	A	18: 20,412,752 (GRCm39)	A591D	possibly damaging	Het
Efnb3	T	C	11: 69,446,798 (GRCm39)	D304G	probably damaging	Het
Erbb3	T	C	10: 128,422,094 (GRCm39)	Y50C	probably benign	Het
Eya3	T	G	4: 132,422,113 (GRCm39)	D275E	probably benign	Het
Fam81a	G	T	9: 70,000,929 (GRCm39)	Q272K	probably benign	Het
Foxf1	T	C	8: 121,811,919 (GRCm39)	V261A	probably damaging	Het
Gm9637	G	A	14: 19,402,011 (GRCm38)		noncoding transcript	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Gtf2h2	A	T	13: 100,625,433 (GRCm39)	L61Q	probably damaging	Het
Hey2	T	A	10: 30,710,382 (GRCm39)	I124F	probably benign	Het
Hoxb3	A	T	11: 96,236,789 (GRCm39)	Y289F	probably damaging	Het
Kctd3	C	T	1: 188,713,538 (GRCm39)	R399Q	probably damaging	Het
Kif26b	C	G	1: 178,743,218 (GRCm39)	P1105A	probably benign	Het
Klhl30	C	T	1: 91,285,585 (GRCm39)	T369M	probably damaging	Het
Lipo2	C	T	19: 33,708,339 (GRCm39)	G225D	probably damaging	Het
Macf1	T	C	4: 123,274,327 (GRCm39)	K6350E	probably damaging	Het
Myh13	A	C	11: 67,232,058 (GRCm39)	N446T	probably damaging	Het
Nos1ap	T	C	1: 170,146,150 (GRCm39)	D468G	probably damaging	Het
Or10j2	C	T	1: 173,098,242 (GRCm39)	P167S	possibly damaging	Het
Or11h7	G	A	14: 50,891,419 (GRCm39)	G242R	possibly damaging	Het
Or4a77	C	A	2: 89,487,459 (GRCm39)	E109*	probably null	Het
Pde3a	T	C	6: 141,195,725 (GRCm39)	L137P	probably damaging	Het
Ppm1f	G	A	16: 16,733,172 (GRCm39)	R233Q	probably benign	Het
Rtf2	C	A	2: 172,308,216 (GRCm39)	A205E	possibly damaging	Het
Sh2d5	T	C	4: 137,985,629 (GRCm39)	F359S	probably benign	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Slc39a11	G	A	11: 113,354,905 (GRCm39)	P108L	probably benign	Het
Slc6a5	G	A	7: 49,567,113 (GRCm39)		probably null	Het
Snph	C	T	2: 151,435,642 (GRCm39)	V360M	probably damaging	Het
Snx29	A	G	16: 11,223,651 (GRCm39)		probably null	Het
Sos1	A	G	17: 80,759,408 (GRCm39)		probably null	Het
St8sia6	T	A	2: 13,662,093 (GRCm39)	N246I	probably damaging	Het
Thy1	T	A	9: 43,958,030 (GRCm39)	F53I	probably damaging	Het
Tle3	T	A	9: 61,317,387 (GRCm39)	Y421*	probably null	Het
Ttc21b	C	T	2: 66,056,355 (GRCm39)	R677Q	probably benign	Het
Vmn2r107	A	T	17: 20,595,252 (GRCm39)	I602F	probably benign	Het
Wdr17	C	A	8: 55,096,226 (GRCm39)	G1016C	probably benign	Het
Wdr62	T	C	7: 29,953,486 (GRCm39)	E182G	possibly damaging	Het
Zfp597	A	G	16: 3,684,228 (GRCm39)	I176T	probably benign	Het

Other mutations in Dctn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R4418:Dctn2	UTSW	10	127,114,234 (GRCm39)	missense	probably benign	0.24
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'- GTTGCAAGCCAAAGTGAGTGCC -3'
(R):5'- AAGTCGCTGTACCAGTTCAGGGAG -3'

Sequencing Primer
(F):5'- TTCTGGACCAAGTAGAGGCTC -3'
(R):5'- CGCTGGATGGTCTCATAGAGC -3'

Posted On

2013-07-11