Mutagenetix > Incidental Mutations

Incidental Mutation 'R1848:Dnm2'

207910

Institutional Source

Beutler Lab

Gene Symbol

Dnm2

Ensembl Gene

ENSMUSG00000033335

Gene Name

dynamin 2

Synonyms

b2b2159Clo, Dyn2

MMRRC Submission

039873-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21424908-21507759 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21505681 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 837 (R837W)

Ref Sequence

ENSEMBL: ENSMUSP00000134243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034698] [ENSMUST00000072362] [ENSMUST00000091087] [ENSMUST00000115404] [ENSMUST00000165766] [ENSMUST00000172482] [ENSMUST00000173397] [ENSMUST00000214576] [ENSMUST00000214285]

Predicted Effect

probably benign
Transcript: ENSMUST00000034698

SMART Domains

Protein: ENSMUSP00000034698
Gene: ENSMUSG00000032180

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
EMP24_GP25L	33	220	1.78e-54	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000072362
AA Change: R837W

SMART Domains

Protein: ENSMUSP00000072199
Gene: ENSMUSG00000033335
AA Change: R837W

Domain	Start	End	E-Value	Type
DYNc	6	245	1.01e-193	SMART
low complexity region	298	313	N/A	INTRINSIC
PH	520	627	8e-13	SMART
GED	648	739	2.57e-28	SMART
low complexity region	740	752	N/A	INTRINSIC
low complexity region	777	799	N/A	INTRINSIC
low complexity region	831	864	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091087
AA Change: R833W

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088616
Gene: ENSMUSG00000033335
AA Change: R833W

Domain	Start	End	E-Value	Type
DYNc	6	245	1.01e-193	SMART
low complexity region	298	313	N/A	INTRINSIC
PH	516	623	8e-13	SMART
GED	644	735	2.57e-28	SMART
low complexity region	736	748	N/A	INTRINSIC
low complexity region	773	795	N/A	INTRINSIC
low complexity region	827	860	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000115404
AA Change: R837W

SMART Domains

Protein: ENSMUSP00000111063
Gene: ENSMUSG00000033335
AA Change: R837W

Domain	Start	End	E-Value	Type
DYNc	6	245	1.01e-193	SMART
low complexity region	298	313	N/A	INTRINSIC
PH	520	627	8e-13	SMART
GED	648	739	2.57e-28	SMART
low complexity region	740	752	N/A	INTRINSIC
low complexity region	777	799	N/A	INTRINSIC
low complexity region	831	864	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000165766
AA Change: R837W

SMART Domains

Protein: ENSMUSP00000128961
Gene: ENSMUSG00000033335
AA Change: R837W

Domain	Start	End	E-Value	Type
DYNc	6	245	1.01e-193	SMART
low complexity region	298	313	N/A	INTRINSIC
PH	520	627	8e-13	SMART
GED	648	739	2.57e-28	SMART
low complexity region	740	752	N/A	INTRINSIC
low complexity region	777	799	N/A	INTRINSIC
low complexity region	831	858	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000172482
AA Change: R837W

SMART Domains

Protein: ENSMUSP00000133564
Gene: ENSMUSG00000033335
AA Change: R837W

Domain	Start	End	E-Value	Type
DYNc	6	245	1.01e-193	SMART
low complexity region	298	313	N/A	INTRINSIC
PH	520	627	8e-13	SMART
GED	648	739	2.57e-28	SMART
low complexity region	740	752	N/A	INTRINSIC
low complexity region	777	799	N/A	INTRINSIC
low complexity region	831	864	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173299

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173397
AA Change: R837W

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134243
Gene: ENSMUSG00000033335
AA Change: R837W

Domain	Start	End	E-Value	Type
DYNc	6	245	1.01e-193	SMART
low complexity region	298	313	N/A	INTRINSIC
PH	520	627	8e-13	SMART
GED	648	739	2.57e-28	SMART
low complexity region	740	752	N/A	INTRINSIC
low complexity region	777	799	N/A	INTRINSIC
low complexity region	831	863	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000174050
AA Change: R783W

SMART Domains

Protein: ENSMUSP00000134696
Gene: ENSMUSG00000033335
AA Change: R783W

Domain	Start	End	E-Value	Type
DYNc	1	196	8.6e-138	SMART
low complexity region	249	264	N/A	INTRINSIC
PH	467	574	8e-13	SMART
GED	595	686	2.57e-28	SMART
low complexity region	687	699	N/A	INTRINSIC
low complexity region	724	746	N/A	INTRINSIC
low complexity region	778	805	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174243

Predicted Effect

probably benign
Transcript: ENSMUST00000213167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213316

Predicted Effect

probably benign
Transcript: ENSMUST00000214576

Predicted Effect

probably benign
Transcript: ENSMUST00000214285

Meta Mutation Damage Score

0.1401

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

Validation Efficiency

98% (120/123)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a targeted allele die prior to E8-E12. Mice heterozygous for a knock-out allele exhibit muscle atrophy and weakness, intermyofibrillar disorganization, and centrally localized mitochondria and sarcoplasmic reticulum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	C	A	8: 87,568,493	Y86*	probably null	Het
Aadac	A	G	3: 60,039,697	E272G	probably damaging	Het
Abcc8	A	T	7: 46,166,902	D271E	probably benign	Het
Acan	T	C	7: 79,099,035	F1185L	probably benign	Het
Adam1a	A	T	5: 121,519,620	C537S	probably damaging	Het
Ago2	A	G	15: 73,123,965	V395A	probably benign	Het
Alox15	A	G	11: 70,350,752	V101A	probably damaging	Het
Ankra2	T	C	13: 98,271,124	I194T	probably damaging	Het
Apobec4	C	A	1: 152,756,230	P3H	probably damaging	Het
Arid3b	G	T	9: 57,796,677	Y329*	probably null	Het
Atm	A	T	9: 53,468,012	S1993T	probably benign	Het
Bpgm	T	G	6: 34,487,734	S129A	probably benign	Het
Brat1	A	G	5: 140,718,509	D839G	possibly damaging	Het
Ccdc15	A	T	9: 37,342,570	S128T	probably benign	Het
Cd300lg	A	T	11: 102,046,206		probably benign	Het
Cdc34b	C	A	11: 94,742,477	Q168K	probably damaging	Het
Celsr2	A	T	3: 108,401,310	V1767E	probably benign	Het
Cep350	T	C	1: 155,953,651	D169G	probably benign	Het
Col7a1	A	T	9: 108,969,565	D1762V	possibly damaging	Het
Coro7	A	G	16: 4,630,434	L724P	probably damaging	Het
Crb1	T	A	1: 139,237,012	I1125F	probably damaging	Het
Ctif	T	A	18: 75,519,941	D415V	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dhrs2	A	G	14: 55,240,841	D237G	probably benign	Het
Dhx9	T	C	1: 153,465,753	Q582R	probably damaging	Het
Dnajc1	C	T	2: 18,219,713	R443Q	probably damaging	Het
Dpf2	C	A	19: 5,906,615	Q70H	probably damaging	Het
Dqx1	T	A	6: 83,066,107	D608E	probably damaging	Het
Dync2h1	T	A	9: 7,049,166	T3245S	probably benign	Het
Ect2l	A	G	10: 18,200,033	L35P	probably damaging	Het
Efcab5	A	T	11: 77,103,306	L1285Q	probably damaging	Het
Eif4g1	G	C	16: 20,681,867	R697P	probably damaging	Het
Emsy	T	A	7: 98,600,821	E753V	probably damaging	Het
Entpd3	A	G	9: 120,558,419	I227M	probably damaging	Het
Epn1	T	A	7: 5,089,998	V103E	probably damaging	Het
Esrra	T	C	19: 6,912,010	D337G	probably benign	Het
Fam129c	T	C	8: 71,603,769	M371T	possibly damaging	Het
Fam83e	A	T	7: 45,728,770	K406M	possibly damaging	Het
Fam83e	A	T	7: 45,728,769	K406*	probably null	Het
Fat2	A	G	11: 55,311,558	I230T	probably damaging	Het
Fbxl16	A	G	17: 25,816,446	I6V	probably benign	Het
Fgf23	T	C	6: 127,073,193	I55T	probably damaging	Het
Fibcd1	T	A	2: 31,821,549	D288V	probably damaging	Het
Flnb	T	C	14: 7,892,113	I594T	probably damaging	Het
Gabbr2	T	C	4: 46,739,823	E449G	probably benign	Het
Gbf1	T	G	19: 46,272,037	S1130A	possibly damaging	Het
Gipc3	T	C	10: 81,341,265	E157G	probably damaging	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm6625	A	C	8: 89,146,834		noncoding transcript	Het
Gpx4	A	G	10: 80,056,036		probably benign	Het
Grb10	A	G	11: 11,946,029	F264L	possibly damaging	Het
Grik3	T	C	4: 125,694,138	Y684H	probably damaging	Het
Gstp1	C	T	19: 4,036,795		probably benign	Het
Haus8	G	A	8: 71,256,123		probably benign	Het
Hip1	G	A	5: 135,435,141		probably null	Het
Hist3h2ba	A	T	11: 58,949,102	I55F	possibly damaging	Het
Hspbap1	T	A	16: 35,818,764		probably null	Het
Htr2b	T	A	1: 86,099,429	I452F	possibly damaging	Het
Hydin	T	A	8: 110,569,808	H3656Q	probably benign	Het
Klb	T	A	5: 65,348,837	D142E	probably benign	Het
Lamb3	A	T	1: 193,334,616	T777S	possibly damaging	Het
Lins1	C	A	7: 66,714,322	T650K	probably damaging	Het
Loxhd1	A	G	18: 77,281,971	K5R	possibly damaging	Het
Lpp	G	A	16: 24,761,655	M40I	probably damaging	Het
Mia2	A	T	12: 59,170,251		probably benign	Het
Miip	A	C	4: 147,863,092	F204V	probably damaging	Het
Mmp21	T	C	7: 133,677,153	R323G	probably benign	Het
Mta3	T	A	17: 83,755,551		probably benign	Het
Myh1	A	G	11: 67,213,630	K1004R	probably benign	Het
Myh14	T	A	7: 44,632,429	I810F	probably damaging	Het
Nbas	A	C	12: 13,413,597	D1295A	probably damaging	Het
Npr2	T	G	4: 43,632,384	V67G	probably benign	Het
Oas1f	C	A	5: 120,855,429	Q235K	probably damaging	Het
Olfr109	T	A	17: 37,467,047	S280R	probably damaging	Het
Olfr59	G	T	11: 74,289,213	C189F	probably damaging	Het
Olfr60	T	A	7: 140,345,987	M1L	probably benign	Het
Olfr629	T	C	7: 103,741,174	N22S	probably benign	Het
Olfr857	C	T	9: 19,713,090	H88Y	probably benign	Het
Pafah2	GCCCC	GCCCCC	4: 134,425,541		probably null	Het
Pde1b	A	G	15: 103,525,340		probably null	Het
Pdilt	T	C	7: 119,489,384	T465A	probably benign	Het
Plxnd1	T	C	6: 115,966,546	H1233R	probably damaging	Het
Ppm1b	T	A	17: 84,994,124	M144K	probably benign	Het
Prkdc	T	C	16: 15,808,058	L3316S	probably benign	Het
Prm2	T	A	16: 10,791,591		probably benign	Het
Prmt7	T	C	8: 106,237,008	V240A	probably benign	Het
Prx	C	A	7: 27,518,888	A938E	possibly damaging	Het
Rbm7	A	G	9: 48,490,894	V131A	probably benign	Het
Ric1	T	A	19: 29,600,813		probably null	Het
Rnf150	A	T	8: 82,864,010	M1L	possibly damaging	Het
Rnf20	C	T	4: 49,644,628	R298W	probably damaging	Het
Rp1	T	A	1: 4,347,232	Y1219F	possibly damaging	Het
Scn7a	A	G	2: 66,684,013		probably null	Het
Sdad1	A	G	5: 92,292,651		probably null	Het
Sept9	T	C	11: 117,353,083		probably benign	Het
Serinc3	T	C	2: 163,645,489		probably benign	Het
Shc3	C	T	13: 51,461,388	G178R	probably damaging	Het
Slc4a10	A	T	2: 62,316,606	K1090M	probably damaging	Het
Slco1a1	T	C	6: 141,923,111	I376V	probably benign	Het
Slmap	A	T	14: 26,422,574	F719L	probably benign	Het
Smgc	A	G	15: 91,859,758	N573D	possibly damaging	Het
Spx	G	A	6: 142,414,079		probably null	Het
Srrt	C	G	5: 137,296,945	E308Q	probably damaging	Het
Tas2r130	T	A	6: 131,630,597	R78S	probably benign	Het
Tchhl1	A	G	3: 93,471,101	R371G	probably damaging	Het
Teddm2	C	T	1: 153,850,448	A174T	probably benign	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Trim33	T	C	3: 103,324,640		probably benign	Het
Tspan31	A	G	10: 127,069,458	V40A	probably damaging	Het
Uevld	A	G	7: 46,945,227		probably benign	Het
Vcl	G	T	14: 21,008,995	A560S	probably benign	Het
Vmn2r24	T	A	6: 123,816,224	C837S	probably damaging	Het
Vmn2r57	C	T	7: 41,428,107	V212M	probably damaging	Het
Vps13c	A	G	9: 67,936,340	T1968A	probably benign	Het
Vtn	A	G	11: 78,500,567	R269G	probably damaging	Het
Wdcp	G	A	12: 4,850,245	V34I	possibly damaging	Het
Zc3h14	A	G	12: 98,752,832	D152G	possibly damaging	Het
Zfp189	C	T	4: 49,529,266	P123L	probably benign	Het
Zfp318	T	C	17: 46,406,055	S1038P	possibly damaging	Het
Zfp873	A	G	10: 82,060,572	D416G	probably benign	Het

Other mutations in Dnm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01446:Dnm2	APN	9	21481376	missense	probably damaging	1.00
IGL01757:Dnm2	APN	9	21465619	missense	probably damaging	1.00
IGL02142:Dnm2	APN	9	21500353	missense	probably damaging	1.00
IGL02195:Dnm2	APN	9	21425249	missense	probably damaging	1.00
IGL02472:Dnm2	APN	9	21485708	missense	possibly damaging	0.55
IGL03161:Dnm2	APN	9	21485724	splice site	probably benign
IGL03392:Dnm2	APN	9	21474611	missense	probably damaging	1.00
R0302:Dnm2	UTSW	9	21500343	missense	probably benign	0.27
R0743:Dnm2	UTSW	9	21500265	missense	probably damaging	1.00
R0945:Dnm2	UTSW	9	21505660	missense	probably damaging	0.97
R1629:Dnm2	UTSW	9	21504458	missense	probably damaging	1.00
R1678:Dnm2	UTSW	9	21467532	missense	possibly damaging	0.89
R2084:Dnm2	UTSW	9	21500371	critical splice donor site	probably null
R2214:Dnm2	UTSW	9	21485723	critical splice donor site	probably null
R2346:Dnm2	UTSW	9	21467556	missense	probably damaging	1.00
R3711:Dnm2	UTSW	9	21506373	unclassified	probably benign
R3796:Dnm2	UTSW	9	21505487	missense	probably benign
R4017:Dnm2	UTSW	9	21494604	missense	probably damaging	1.00
R4432:Dnm2	UTSW	9	21491304	intron	probably benign
R4583:Dnm2	UTSW	9	21504446	missense	probably damaging	1.00
R4604:Dnm2	UTSW	9	21504664	critical splice donor site	probably null
R4735:Dnm2	UTSW	9	21474587	missense	probably damaging	0.99
R4803:Dnm2	UTSW	9	21474629	missense	probably damaging	1.00
R4832:Dnm2	UTSW	9	21474679	splice site	probably null
R4836:Dnm2	UTSW	9	21491330	intron	probably benign
R4937:Dnm2	UTSW	9	21481337	missense	probably benign	0.00
R4948:Dnm2	UTSW	9	21504533	missense	possibly damaging	0.90
R5059:Dnm2	UTSW	9	21504578	missense	probably damaging	1.00
R5291:Dnm2	UTSW	9	21478907	missense	probably damaging	1.00
R5538:Dnm2	UTSW	9	21505627	missense	probably benign	0.05
R5613:Dnm2	UTSW	9	21472667	missense	probably damaging	1.00
R5805:Dnm2	UTSW	9	21467669	missense	probably damaging	0.97
R6253:Dnm2	UTSW	9	21500275	missense	probably damaging	1.00
R6586:Dnm2	UTSW	9	21505646	missense	probably benign	0.32
R6826:Dnm2	UTSW	9	21504471	nonsense	probably null
R6855:Dnm2	UTSW	9	21476585	missense	probably damaging	1.00
R7121:Dnm2	UTSW	9	21474566	missense	probably benign	0.31
R7307:Dnm2	UTSW	9	21485687	missense	probably damaging	1.00
R7318:Dnm2	UTSW	9	21505567	missense	possibly damaging	0.46
R7467:Dnm2	UTSW	9	21481376	missense	probably damaging	1.00
R7619:Dnm2	UTSW	9	21505634	missense	probably benign	0.00
R7673:Dnm2	UTSW	9	21481421	critical splice donor site	probably null
R8474:Dnm2	UTSW	9	21465720	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATATCCTTCCTCCAGATTACAGC -3'
(R):5'- AGGGCTCAATGTCTCAGGAC -3'

Sequencing Primer
(F):5'- ACCTGTGTCCAGTGTGCAC -3'
(R):5'- TGTCTCAGGACACAAGCAG -3'

Posted On

2014-06-23