Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21336204-21419055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21416977 bp (GRCm39)

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]

AlphaFold

P39054

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

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

noncoding transcript
Transcript: ENSMUST00000174243

Predicted Effect

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: ENSMUST00000173299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213316

Predicted Effect

probably benign
Transcript: ENSMUST00000214576

Predicted Effect

probably benign
Transcript: ENSMUST00000213167

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: 88,295,121 (GRCm39)	Y86*	probably null	Het
Aadac	A	G	3: 59,947,118 (GRCm39)	E272G	probably damaging	Het
Abcc8	A	T	7: 45,816,326 (GRCm39)	D271E	probably benign	Het
Acan	T	C	7: 78,748,783 (GRCm39)	F1185L	probably benign	Het
Adam1a	A	T	5: 121,657,683 (GRCm39)	C537S	probably damaging	Het
Ago2	A	G	15: 72,995,814 (GRCm39)	V395A	probably benign	Het
Alox15	A	G	11: 70,241,578 (GRCm39)	V101A	probably damaging	Het
Ankra2	T	C	13: 98,407,632 (GRCm39)	I194T	probably damaging	Het
Apobec4	C	A	1: 152,631,981 (GRCm39)	P3H	probably damaging	Het
Arid3b	G	T	9: 57,703,960 (GRCm39)	Y329*	probably null	Het
Atm	A	T	9: 53,379,312 (GRCm39)	S1993T	probably benign	Het
Bpgm	T	G	6: 34,464,669 (GRCm39)	S129A	probably benign	Het
Brat1	A	G	5: 140,704,264 (GRCm39)	D839G	possibly damaging	Het
Ccdc15	A	T	9: 37,253,866 (GRCm39)	S128T	probably benign	Het
Cd300lg	A	T	11: 101,937,032 (GRCm39)		probably benign	Het
Cdc34b	C	A	11: 94,633,303 (GRCm39)	Q168K	probably damaging	Het
Celsr2	A	T	3: 108,308,626 (GRCm39)	V1767E	probably benign	Het
Cep350	T	C	1: 155,829,397 (GRCm39)	D169G	probably benign	Het
Col7a1	A	T	9: 108,798,633 (GRCm39)	D1762V	possibly damaging	Het
Coro7	A	G	16: 4,448,298 (GRCm39)	L724P	probably damaging	Het
Crb1	T	A	1: 139,164,750 (GRCm39)	I1125F	probably damaging	Het
Ctif	T	A	18: 75,653,012 (GRCm39)	D415V	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dhrs2	A	G	14: 55,478,298 (GRCm39)	D237G	probably benign	Het
Dhx9	T	C	1: 153,341,499 (GRCm39)	Q582R	probably damaging	Het
Dnajc1	C	T	2: 18,224,524 (GRCm39)	R443Q	probably damaging	Het
Dpf2	C	A	19: 5,956,643 (GRCm39)	Q70H	probably damaging	Het
Dqx1	T	A	6: 83,043,088 (GRCm39)	D608E	probably damaging	Het
Dync2h1	T	A	9: 7,049,166 (GRCm39)	T3245S	probably benign	Het
Ect2l	A	G	10: 18,075,781 (GRCm39)	L35P	probably damaging	Het
Efcab5	A	T	11: 76,994,132 (GRCm39)	L1285Q	probably damaging	Het
Eif4g1	G	C	16: 20,500,617 (GRCm39)	R697P	probably damaging	Het
Emsy	T	A	7: 98,250,028 (GRCm39)	E753V	probably damaging	Het
Entpd3	A	G	9: 120,387,485 (GRCm39)	I227M	probably damaging	Het
Epn1	T	A	7: 5,092,997 (GRCm39)	V103E	probably damaging	Het
Esrra	T	C	19: 6,889,378 (GRCm39)	D337G	probably benign	Het
Fam83e	A	T	7: 45,378,193 (GRCm39)	K406*	probably null	Het
Fam83e	A	T	7: 45,378,194 (GRCm39)	K406M	possibly damaging	Het
Fat2	A	G	11: 55,202,384 (GRCm39)	I230T	probably damaging	Het
Fbxl16	A	G	17: 26,035,420 (GRCm39)	I6V	probably benign	Het
Fgf23	T	C	6: 127,050,156 (GRCm39)	I55T	probably damaging	Het
Fibcd1	T	A	2: 31,711,561 (GRCm39)	D288V	probably damaging	Het
Flnb	T	C	14: 7,892,113 (GRCm38)	I594T	probably damaging	Het
Gabbr2	T	C	4: 46,739,823 (GRCm39)	E449G	probably benign	Het
Gbf1	T	G	19: 46,260,476 (GRCm39)	S1130A	possibly damaging	Het
Gipc3	T	C	10: 81,177,099 (GRCm39)	E157G	probably damaging	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm6625	A	C	8: 89,873,462 (GRCm39)		noncoding transcript	Het
Gpx4	A	G	10: 79,891,870 (GRCm39)		probably benign	Het
Grb10	A	G	11: 11,896,029 (GRCm39)	F264L	possibly damaging	Het
Grik3	T	C	4: 125,587,931 (GRCm39)	Y684H	probably damaging	Het
Gstp1	C	T	19: 4,086,795 (GRCm39)		probably benign	Het
H2bc27	A	T	11: 58,839,928 (GRCm39)	I55F	possibly damaging	Het
Haus8	G	A	8: 71,708,767 (GRCm39)		probably benign	Het
Hip1	G	A	5: 135,463,995 (GRCm39)		probably null	Het
Hspbap1	T	A	16: 35,639,134 (GRCm39)		probably null	Het
Htr2b	T	A	1: 86,027,151 (GRCm39)	I452F	possibly damaging	Het
Hydin	T	A	8: 111,296,440 (GRCm39)	H3656Q	probably benign	Het
Klb	T	A	5: 65,506,180 (GRCm39)	D142E	probably benign	Het
Lamb3	A	T	1: 193,016,924 (GRCm39)	T777S	possibly damaging	Het
Lins1	C	A	7: 66,364,070 (GRCm39)	T650K	probably damaging	Het
Loxhd1	A	G	18: 77,369,667 (GRCm39)	K5R	possibly damaging	Het
Lpp	G	A	16: 24,580,405 (GRCm39)	M40I	probably damaging	Het
Mia2	A	T	12: 59,217,037 (GRCm39)		probably benign	Het
Miip	A	C	4: 147,947,549 (GRCm39)	F204V	probably damaging	Het
Mmp21	T	C	7: 133,278,882 (GRCm39)	R323G	probably benign	Het
Mta3	T	A	17: 84,062,980 (GRCm39)		probably benign	Het
Myh1	A	G	11: 67,104,456 (GRCm39)	K1004R	probably benign	Het
Myh14	T	A	7: 44,281,853 (GRCm39)	I810F	probably damaging	Het
Nbas	A	C	12: 13,463,598 (GRCm39)	D1295A	probably damaging	Het
Niban3	T	C	8: 72,056,413 (GRCm39)	M371T	possibly damaging	Het
Npr2	T	G	4: 43,632,384 (GRCm39)	V67G	probably benign	Het
Oas1f	C	A	5: 120,993,492 (GRCm39)	Q235K	probably damaging	Het
Or12d17	T	A	17: 37,777,938 (GRCm39)	S280R	probably damaging	Het
Or13a27	T	A	7: 139,925,900 (GRCm39)	M1L	probably benign	Het
Or1p1	G	T	11: 74,180,039 (GRCm39)	C189F	probably damaging	Het
Or52ae9	T	C	7: 103,390,381 (GRCm39)	N22S	probably benign	Het
Or7e166	C	T	9: 19,624,386 (GRCm39)	H88Y	probably benign	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Pde1b	A	G	15: 103,433,767 (GRCm39)		probably null	Het
Pdilt	T	C	7: 119,088,607 (GRCm39)	T465A	probably benign	Het
Plxnd1	T	C	6: 115,943,507 (GRCm39)	H1233R	probably damaging	Het
Ppm1b	T	A	17: 85,301,552 (GRCm39)	M144K	probably benign	Het
Prkdc	T	C	16: 15,625,922 (GRCm39)	L3316S	probably benign	Het
Prm2	T	A	16: 10,609,455 (GRCm39)		probably benign	Het
Prmt7	T	C	8: 106,963,640 (GRCm39)	V240A	probably benign	Het
Prx	C	A	7: 27,218,313 (GRCm39)	A938E	possibly damaging	Het
Rbm7	A	G	9: 48,402,194 (GRCm39)	V131A	probably benign	Het
Ric1	T	A	19: 29,578,213 (GRCm39)		probably null	Het
Rnf150	A	T	8: 83,590,639 (GRCm39)	M1L	possibly damaging	Het
Rnf20	C	T	4: 49,644,628 (GRCm39)	R298W	probably damaging	Het
Rp1	T	A	1: 4,417,455 (GRCm39)	Y1219F	possibly damaging	Het
Scn7a	A	G	2: 66,514,357 (GRCm39)		probably null	Het
Sdad1	A	G	5: 92,440,510 (GRCm39)		probably null	Het
Septin9	T	C	11: 117,243,909 (GRCm39)		probably benign	Het
Serinc3	T	C	2: 163,487,409 (GRCm39)		probably benign	Het
Shc3	C	T	13: 51,615,424 (GRCm39)	G178R	probably damaging	Het
Slc4a10	A	T	2: 62,146,950 (GRCm39)	K1090M	probably damaging	Het
Slco1a1	T	C	6: 141,868,837 (GRCm39)	I376V	probably benign	Het
Slmap	A	T	14: 26,143,729 (GRCm39)	F719L	probably benign	Het
Smgc	A	G	15: 91,743,956 (GRCm39)	N573D	possibly damaging	Het
Spx	G	A	6: 142,359,805 (GRCm39)		probably null	Het
Srrt	C	G	5: 137,295,207 (GRCm39)	E308Q	probably damaging	Het
Tas2r130	T	A	6: 131,607,560 (GRCm39)	R78S	probably benign	Het
Tchhl1	A	G	3: 93,378,408 (GRCm39)	R371G	probably damaging	Het
Teddm2	C	T	1: 153,726,194 (GRCm39)	A174T	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Trim33	T	C	3: 103,231,956 (GRCm39)		probably benign	Het
Tspan31	A	G	10: 126,905,327 (GRCm39)	V40A	probably damaging	Het
Uevld	A	G	7: 46,594,975 (GRCm39)		probably benign	Het
Vcl	G	T	14: 21,059,063 (GRCm39)	A560S	probably benign	Het
Vmn2r24	T	A	6: 123,793,183 (GRCm39)	C837S	probably damaging	Het
Vmn2r57	C	T	7: 41,077,531 (GRCm39)	V212M	probably damaging	Het
Vps13c	A	G	9: 67,843,622 (GRCm39)	T1968A	probably benign	Het
Vtn	A	G	11: 78,391,393 (GRCm39)	R269G	probably damaging	Het
Wdcp	G	A	12: 4,900,245 (GRCm39)	V34I	possibly damaging	Het
Zc3h14	A	G	12: 98,719,091 (GRCm39)	D152G	possibly damaging	Het
Zfp189	C	T	4: 49,529,266 (GRCm39)	P123L	probably benign	Het
Zfp318	T	C	17: 46,716,981 (GRCm39)	S1038P	possibly damaging	Het
Zfp873	A	G	10: 81,896,406 (GRCm39)	D416G	probably benign	Het

Other mutations in Dnm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01446:Dnm2	APN	9	21,392,672 (GRCm39)	missense	probably damaging	1.00
IGL01757:Dnm2	APN	9	21,376,915 (GRCm39)	missense	probably damaging	1.00
IGL02142:Dnm2	APN	9	21,411,649 (GRCm39)	missense	probably damaging	1.00
IGL02195:Dnm2	APN	9	21,336,545 (GRCm39)	missense	probably damaging	1.00
IGL02472:Dnm2	APN	9	21,397,004 (GRCm39)	missense	possibly damaging	0.55
IGL03161:Dnm2	APN	9	21,397,020 (GRCm39)	splice site	probably benign
IGL03392:Dnm2	APN	9	21,385,907 (GRCm39)	missense	probably damaging	1.00
R0302:Dnm2	UTSW	9	21,411,639 (GRCm39)	missense	probably benign	0.27
R0743:Dnm2	UTSW	9	21,411,561 (GRCm39)	missense	probably damaging	1.00
R0945:Dnm2	UTSW	9	21,416,956 (GRCm39)	missense	probably damaging	0.97
R1629:Dnm2	UTSW	9	21,415,754 (GRCm39)	missense	probably damaging	1.00
R1678:Dnm2	UTSW	9	21,378,828 (GRCm39)	missense	possibly damaging	0.89
R2084:Dnm2	UTSW	9	21,411,667 (GRCm39)	critical splice donor site	probably null
R2214:Dnm2	UTSW	9	21,397,019 (GRCm39)	critical splice donor site	probably null
R2346:Dnm2	UTSW	9	21,378,852 (GRCm39)	missense	probably damaging	1.00
R3711:Dnm2	UTSW	9	21,417,669 (GRCm39)	unclassified	probably benign
R3796:Dnm2	UTSW	9	21,416,783 (GRCm39)	missense	probably benign
R4017:Dnm2	UTSW	9	21,405,900 (GRCm39)	missense	probably damaging	1.00
R4432:Dnm2	UTSW	9	21,402,600 (GRCm39)	intron	probably benign
R4583:Dnm2	UTSW	9	21,415,742 (GRCm39)	missense	probably damaging	1.00
R4604:Dnm2	UTSW	9	21,415,960 (GRCm39)	critical splice donor site	probably null
R4735:Dnm2	UTSW	9	21,385,883 (GRCm39)	missense	probably damaging	0.99
R4803:Dnm2	UTSW	9	21,385,925 (GRCm39)	missense	probably damaging	1.00
R4832:Dnm2	UTSW	9	21,385,975 (GRCm39)	splice site	probably null
R4836:Dnm2	UTSW	9	21,402,626 (GRCm39)	intron	probably benign
R4937:Dnm2	UTSW	9	21,392,633 (GRCm39)	missense	probably benign	0.00
R4948:Dnm2	UTSW	9	21,415,829 (GRCm39)	missense	possibly damaging	0.90
R5059:Dnm2	UTSW	9	21,415,874 (GRCm39)	missense	probably damaging	1.00
R5291:Dnm2	UTSW	9	21,390,203 (GRCm39)	missense	probably damaging	1.00
R5538:Dnm2	UTSW	9	21,416,923 (GRCm39)	missense	probably benign	0.05
R5613:Dnm2	UTSW	9	21,383,963 (GRCm39)	missense	probably damaging	1.00
R5805:Dnm2	UTSW	9	21,378,965 (GRCm39)	missense	probably damaging	0.97
R6253:Dnm2	UTSW	9	21,411,571 (GRCm39)	missense	probably damaging	1.00
R6586:Dnm2	UTSW	9	21,416,942 (GRCm39)	missense	probably benign	0.32
R6826:Dnm2	UTSW	9	21,415,767 (GRCm39)	nonsense	probably null
R6855:Dnm2	UTSW	9	21,387,881 (GRCm39)	missense	probably damaging	1.00
R7121:Dnm2	UTSW	9	21,385,862 (GRCm39)	missense	probably benign	0.31
R7307:Dnm2	UTSW	9	21,396,983 (GRCm39)	missense	probably damaging	1.00
R7318:Dnm2	UTSW	9	21,416,863 (GRCm39)	missense	possibly damaging	0.46
R7467:Dnm2	UTSW	9	21,392,672 (GRCm39)	missense	probably damaging	1.00
R7619:Dnm2	UTSW	9	21,416,930 (GRCm39)	missense	probably benign	0.00
R7673:Dnm2	UTSW	9	21,392,717 (GRCm39)	critical splice donor site	probably null
R8474:Dnm2	UTSW	9	21,377,016 (GRCm39)	missense	probably damaging	1.00
R9275:Dnm2	UTSW	9	21,416,977 (GRCm39)	missense	possibly damaging	0.87
R9278:Dnm2	UTSW	9	21,416,977 (GRCm39)	missense	possibly damaging	0.87
R9383:Dnm2	UTSW	9	21,383,920 (GRCm39)	missense	probably damaging	1.00
R9610:Dnm2	UTSW	9	21,414,973 (GRCm39)	nonsense	probably null

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