Mutagenetix > Incidental Mutation

Incidental Mutation 'R6873:Dctn2'

536267

Institutional Source

Beutler Lab

Gene Symbol

Dctn2

Ensembl Gene

ENSMUSG00000025410

Gene Name

dynactin 2

Synonyms

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

MMRRC Submission

044970-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6873 (G1)

Quality Score

117.008

Status

Validated

Chromosome

Chromosomal Location

127102237-127117819 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 127112105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026479]

AlphaFold

Q99KJ8

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (48/49)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss1	A	G	12: 112,599,138 (GRCm39)	D123G	probably benign	Het
Agbl4	A	G	4: 111,423,856 (GRCm39)	D294G	possibly damaging	Het
Apob	G	T	12: 8,065,995 (GRCm39)	M4288I	probably benign	Het
Arnt	T	G	3: 95,381,886 (GRCm39)	F160V	probably damaging	Het
Atp5f1a	C	T	18: 77,863,540 (GRCm39)	R42*	probably null	Het
Bhlha15	A	G	5: 144,128,203 (GRCm39)	D105G	probably benign	Het
C6	A	G	15: 4,820,461 (GRCm39)	T491A	probably benign	Het
Calhm5	G	C	10: 33,968,448 (GRCm39)	R202G	probably damaging	Het
Caskin1	A	G	17: 24,723,153 (GRCm39)	E647G	probably benign	Het
Col11a2	A	G	17: 34,283,993 (GRCm39)	D1579G	unknown	Het
Eqtn	A	G	4: 94,815,258 (GRCm39)	V80A	probably damaging	Het
Etl4	A	G	2: 20,802,803 (GRCm39)		probably null	Het
Fbxo10	T	C	4: 45,041,787 (GRCm39)	D814G	possibly damaging	Het
Galnt10	A	G	11: 57,672,045 (GRCm39)	D445G	probably damaging	Het
Gm6309	T	C	5: 146,104,998 (GRCm39)	D305G	probably damaging	Het
Grap2	G	A	15: 80,527,874 (GRCm39)	V107I	probably damaging	Het
Igsf10	C	T	3: 59,235,865 (GRCm39)	A1439T	probably benign	Het
Krt5	G	A	15: 101,621,312 (GRCm39)		probably benign	Het
Lancl2	A	G	6: 57,699,642 (GRCm39)	I152M	possibly damaging	Het
Mast3	A	T	8: 71,239,236 (GRCm39)	C447*	probably null	Het
Mef2b	A	G	8: 70,618,957 (GRCm39)	I180V	probably benign	Het
Mon1b	T	C	8: 114,368,697 (GRCm39)	Y533H	probably damaging	Het
Mst1r	A	T	9: 107,788,843 (GRCm39)	H454L	possibly damaging	Het
Nhlrc4	G	A	17: 26,162,496 (GRCm39)	Q84*	probably null	Het
Nlk	A	G	11: 78,481,774 (GRCm39)	I229T	possibly damaging	Het
Nlrp6	T	C	7: 140,503,433 (GRCm39)	I513T	probably benign	Het
Or1j12	A	T	2: 36,343,508 (GRCm39)	I304F	probably benign	Het
Or2n1	A	T	17: 38,486,259 (GRCm39)	M95L	probably benign	Het
Or4c108	T	C	2: 88,803,768 (GRCm39)	T156A	probably benign	Het
Panx1	A	T	9: 14,921,513 (GRCm39)	Y121N	probably damaging	Het
Pfkfb4	A	C	9: 108,839,403 (GRCm39)		probably null	Het
Setbp1	A	G	18: 78,902,774 (GRCm39)	S298P	probably benign	Het
Sh3bgr	A	C	16: 96,007,691 (GRCm39)	K19Q	probably damaging	Het
Slc35c2	T	C	2: 165,124,729 (GRCm39)	D82G	possibly damaging	Het
Spata13	T	A	14: 60,929,406 (GRCm39)	D321E	probably benign	Het
Stab2	A	G	10: 86,697,230 (GRCm39)		probably null	Het
Sulf2	T	A	2: 165,931,195 (GRCm39)	I271F	probably damaging	Het
Sult2a5	A	T	7: 13,359,311 (GRCm39)	I96L	probably benign	Het
Sv2b	A	G	7: 74,855,954 (GRCm39)	F112S	probably damaging	Het
Sycp1	G	A	3: 102,748,296 (GRCm39)	T832I	probably benign	Het
Tm9sf2	A	T	14: 122,382,525 (GRCm39)	E179V	probably damaging	Het
Tmem209	A	G	6: 30,508,455 (GRCm39)	I66T	probably damaging	Het
Tspan10	T	C	11: 120,335,549 (GRCm39)	W220R	probably damaging	Het
Ttc39b	G	C	4: 83,164,513 (GRCm39)	N266K	probably damaging	Het
Uri1	A	T	7: 37,664,764 (GRCm39)	D309E	probably benign	Het
Zfhx3	C	T	8: 109,527,273 (GRCm39)	R1057W	probably damaging	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
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
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
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'- AAATCTATCCTGGGCACGTG -3'
(R):5'- TGATTGCAGCATCTGGTCCC -3'

Sequencing Primer
(F):5'- CACGTGGCAGTGGTGAC -3'
(R):5'- CATGGCCAGGCTGTTTTA -3'

Posted On

2018-10-18