Mutagenetix > Incidental Mutation

Incidental Mutation 'R4972:Dctn2'

444547

Institutional Source

Beutler Lab

Gene Symbol

Dctn2

Ensembl Gene

ENSMUSG00000025410

Gene Name

dynactin 2

Synonyms

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

MMRRC Submission

042567-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127102237-127117819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127112572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 176 (R176C)

Ref Sequence

ENSEMBL: ENSMUSP00000026479 (fasta)

Gene Model

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

AlphaFold

Q99KJ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026479
AA Change: R176C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026479
Gene: ENSMUSG00000025410
AA Change: R176C

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

0.5685

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

93% (82/88)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,383,361 (GRCm39)	I868N	possibly damaging	Het
A730013G03Rik	C	G	1: 192,516,081 (GRCm39)		noncoding transcript	Het
Actl11	A	G	9: 107,807,155 (GRCm39)	T493A	probably benign	Het
Actn1	T	C	12: 80,219,813 (GRCm39)	D686G	probably benign	Het
Adamts1	G	A	16: 85,592,833 (GRCm39)	T525I	probably damaging	Het
Adcy10	T	A	1: 165,384,431 (GRCm39)	L1064H	probably damaging	Het
AI661453	A	T	17: 47,777,324 (GRCm39)		probably benign	Het
Apba1	T	A	19: 23,889,900 (GRCm39)	S433T	probably benign	Het
Arid4b	T	A	13: 14,334,857 (GRCm39)	N355K	probably benign	Het
Bsn	A	T	9: 107,992,377 (GRCm39)	M1125K	probably damaging	Het
C2cd5	A	T	6: 142,958,950 (GRCm39)	M1003K	probably damaging	Het
Ccdc18	A	G	5: 108,339,869 (GRCm39)	M805V	probably benign	Het
Cep89	T	G	7: 35,131,977 (GRCm39)	L637R	probably damaging	Het
Col24a1	A	T	3: 145,215,439 (GRCm39)	I1444F	probably benign	Het
Commd4	A	T	9: 57,062,732 (GRCm39)	S175T	probably benign	Het
Coq7	A	G	7: 118,109,340 (GRCm39)	V236A	unknown	Het
Ddx31	T	C	2: 28,750,782 (GRCm39)	F389L	probably damaging	Het
Dgkz	C	T	2: 91,776,047 (GRCm39)	R72H	probably benign	Het
Dpysl4	A	G	7: 138,670,206 (GRCm39)	D24G	probably damaging	Het
Dydc1	A	G	14: 40,804,295 (GRCm39)	T106A	probably benign	Het
F13b	A	G	1: 139,438,661 (GRCm39)	Y355C	probably damaging	Het
Fcrl5	A	G	3: 87,361,957 (GRCm39)	M407V	probably benign	Het
Fzd5	C	A	1: 64,775,171 (GRCm39)	V197L	probably benign	Het
Galnt16	G	T	12: 80,619,103 (GRCm39)	E70*	probably null	Het
Gpr171	A	T	3: 59,005,386 (GRCm39)	F130I	probably damaging	Het
Grin3a	T	C	4: 49,770,484 (GRCm39)	N763D	probably damaging	Het
Gsta2	A	T	9: 78,244,961 (GRCm39)	M51K	probably damaging	Het
Gvin-ps3	T	C	7: 105,682,521 (GRCm39)		noncoding transcript	Het
Hacd3	A	T	9: 64,897,718 (GRCm39)	I298N	probably damaging	Het
Il18r1	C	T	1: 40,530,224 (GRCm39)	P317L	probably benign	Het
Iscu	T	A	5: 113,915,037 (GRCm39)		probably benign	Het
Kif6	A	G	17: 50,014,647 (GRCm39)	D250G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lcn6	T	A	2: 25,570,079 (GRCm39)	C82S	probably damaging	Het
Mob4	C	G	1: 55,190,161 (GRCm39)	L135V	possibly damaging	Het
Mpzl3	T	A	9: 44,973,554 (GRCm39)		probably benign	Het
Mvp	T	C	7: 126,588,970 (GRCm39)	D599G	probably damaging	Het
Myo1a	T	C	10: 127,552,178 (GRCm39)	Y766H	probably benign	Het
Myo5b	A	G	18: 74,760,264 (GRCm39)	H260R	probably damaging	Het
Nbea	C	T	3: 55,992,667 (GRCm39)	R313H	probably damaging	Het
Necab1	T	A	4: 14,978,216 (GRCm39)	D211V	probably damaging	Het
Nefl	G	T	14: 68,324,212 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 40,976,375 (GRCm39)	D16E	probably benign	Het
Nlrp9a	G	T	7: 26,269,964 (GRCm39)	C797F	probably damaging	Het
Or4k36	T	A	2: 111,146,163 (GRCm39)	V113E	probably damaging	Het
Or5p5	A	G	7: 107,413,953 (GRCm39)	Q56R	probably benign	Het
Pde6b	A	G	5: 108,573,130 (GRCm39)	D500G	probably benign	Het
Pgs1	T	C	11: 117,896,719 (GRCm39)		probably null	Het
Polr3b	T	A	10: 84,473,988 (GRCm39)	I189N	probably damaging	Het
Ppwd1	A	T	13: 104,356,616 (GRCm39)	S300T	probably benign	Het
Prl2c2	A	C	13: 13,176,755 (GRCm39)	N55K	possibly damaging	Het
Prpf19	C	T	19: 10,876,709 (GRCm39)		probably benign	Het
Prph2	G	T	17: 47,221,733 (GRCm39)	L37F	possibly damaging	Het
Ptprg	G	T	14: 12,226,427 (GRCm38)	R565L	possibly damaging	Het
Rab8a	C	T	8: 72,925,119 (GRCm39)	T74M	probably damaging	Het
Rexo1	A	T	10: 80,385,527 (GRCm39)	F510L	probably damaging	Het
Rexo2	G	T	9: 48,390,689 (GRCm39)	T51K	probably damaging	Het
Sh3d21	T	C	4: 126,046,209 (GRCm39)	K147R	possibly damaging	Het
Skint6	A	G	4: 112,692,265 (GRCm39)	I1062T	probably benign	Het
Spag16	C	T	1: 70,764,087 (GRCm39)	R636W	probably damaging	Het
Spata16	T	C	3: 26,894,872 (GRCm39)	I307T	possibly damaging	Het
Speer4f2	T	G	5: 17,579,423 (GRCm39)	I74S	probably benign	Het
Svep1	T	A	4: 58,087,778 (GRCm39)	Y1767F	possibly damaging	Het
Swt1	T	C	1: 151,299,293 (GRCm39)	S7G	probably benign	Het
Tex9	A	G	9: 72,385,620 (GRCm39)		probably null	Het
Thsd7b	C	A	1: 130,116,309 (GRCm39)	P1354H	probably damaging	Het
Ticrr	A	G	7: 79,319,416 (GRCm39)	D467G	probably damaging	Het
Tmco5b	A	C	2: 113,127,338 (GRCm39)	D303A	probably damaging	Het
Trpm7	A	G	2: 126,665,978 (GRCm39)	V876A	probably damaging	Het
Ttc21a	G	A	9: 119,774,027 (GRCm39)	E245K	probably benign	Het
Vezt	C	T	10: 93,836,212 (GRCm39)		probably null	Het
Zscan20	G	A	4: 128,486,152 (GRCm39)	P183S	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
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
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'- CTAGCTAAGTGAGTGCCCTC -3'
(R):5'- AAAGCTTTCCCTCCTAGGCC -3'

Sequencing Primer
(F):5'- TGAGTGCCCTCAGCCGC -3'
(R):5'- CTGCAAAGGCCACTCGC -3'

Posted On

2016-11-15