Mutagenetix > Incidental Mutation

Incidental Mutation 'R2238:Dctn2'

240253

Institutional Source

Beutler Lab

Gene Symbol

Dctn2

Ensembl Gene

ENSMUSG00000025410

Gene Name

dynactin 2

Synonyms

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

MMRRC Submission

040238-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2238 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

127102237-127117819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127112257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 123 (T123I)

Ref Sequence

ENSEMBL: ENSMUSP00000026479 (fasta)

Gene Model

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

AlphaFold

Q99KJ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026479
AA Change: T123I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026479
Gene: ENSMUSG00000025410
AA Change: T123I

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.2090

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,246,469 (GRCm39)	V5E	possibly damaging	Het
Acaca	T	C	11: 84,282,331 (GRCm39)		probably benign	Het
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Adgrl4	A	T	3: 151,205,779 (GRCm39)	I164F	probably damaging	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Bmi1	T	C	2: 18,688,225 (GRCm39)		probably benign	Het
Carf	T	C	1: 60,187,193 (GRCm39)	S599P	probably benign	Het
Cdc37	G	A	9: 21,053,829 (GRCm39)	Q176*	probably null	Het
Clca3a1	T	A	3: 144,457,766 (GRCm39)	I373F	possibly damaging	Het
Clnk	A	G	5: 38,921,694 (GRCm39)		probably benign	Het
Cnot1	T	C	8: 96,496,149 (GRCm39)	I342V	probably benign	Het
Dact2	A	T	17: 14,417,312 (GRCm39)	L296Q	probably damaging	Het
Deup1	A	C	9: 15,486,597 (GRCm39)	I455S	probably damaging	Het
Dnmbp	A	G	19: 43,857,303 (GRCm39)	V957A	possibly damaging	Het
Emilin2	T	C	17: 71,581,734 (GRCm39)	R331G	possibly damaging	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Gbf1	T	C	19: 46,152,057 (GRCm39)	I30T	probably benign	Het
Gcc1	A	G	6: 28,420,462 (GRCm39)	V285A	probably benign	Het
Gopc	T	C	10: 52,229,499 (GRCm39)	H188R	probably damaging	Het
Herc6	A	G	6: 57,631,386 (GRCm39)	N693D	probably benign	Het
Hipk2	A	G	6: 38,706,850 (GRCm39)		probably benign	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Ints1	G	A	5: 139,750,955 (GRCm39)	T814M	possibly damaging	Het
Kdm6a	T	C	X: 18,065,476 (GRCm39)	F104S	probably damaging	Het
Kdr	T	A	5: 76,110,179 (GRCm39)	Y936F	possibly damaging	Het
Ly6k	T	C	15: 74,669,018 (GRCm39)	E87G	probably benign	Het
Lyst	A	G	13: 13,917,848 (GRCm39)	N3303D	probably benign	Het
Mindy4	T	C	6: 55,278,055 (GRCm39)	F633S	probably damaging	Het
Msl2	T	A	9: 100,978,569 (GRCm39)	N314K	probably benign	Het
Ncapd3	A	G	9: 26,978,320 (GRCm39)	T840A	probably benign	Het
Neil3	T	C	8: 54,052,311 (GRCm39)	D429G	possibly damaging	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Nt5c1b	A	G	12: 10,440,108 (GRCm39)	Y550C	probably damaging	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Pabpc4l	A	C	3: 46,401,137 (GRCm39)	V169G	probably damaging	Het
Pcgf5	A	T	19: 36,414,754 (GRCm39)	N105I	probably damaging	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Pik3cb	A	G	9: 98,923,081 (GRCm39)	Y984H	probably damaging	Het
Ptprz1	A	T	6: 22,987,376 (GRCm39)	Q387L	probably damaging	Het
Rassf8	T	C	6: 145,762,910 (GRCm39)	V419A	probably damaging	Het
Rnf148	T	C	6: 23,654,345 (GRCm39)	Y217C	probably benign	Het
Sec24d	T	A	3: 123,143,543 (GRCm39)		probably null	Het
Sesn3	T	C	9: 14,219,761 (GRCm39)	V50A	probably benign	Het
Sgcd	T	C	11: 47,023,509 (GRCm39)	N99D	possibly damaging	Het
Sncaip	T	C	18: 53,001,619 (GRCm39)	S47P	probably damaging	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Srcin1	T	C	11: 97,425,645 (GRCm39)	T471A	probably benign	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tcaf3	A	G	6: 42,570,262 (GRCm39)	Y497H	probably benign	Het
Tmem40	C	T	6: 115,708,038 (GRCm39)	W150*	probably null	Het
Tmem59l	T	C	8: 70,937,772 (GRCm39)	T203A	probably damaging	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Vmn1r204	A	G	13: 22,740,993 (GRCm39)	H208R	probably benign	Het
Vmn2r98	T	A	17: 19,286,213 (GRCm39)	M237K	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
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'- AAATCTATCCTGGGCACGTGG -3'
(R):5'- GAGGGCACTCACTTAGCTAG -3'

Sequencing Primer
(F):5'- TACACACTGCATGCATGTGG -3'
(R):5'- TAGGGCTCCGTCTGGGTC -3'

Posted On

2014-10-15