Mutagenetix > Incidental Mutations

Incidental Mutation 'R1629:Dnm2'

172682

Institutional Source

Beutler Lab

Gene Symbol

Dnm2

Ensembl Gene

ENSMUSG00000033335

Gene Name

dynamin 2

Synonyms

b2b2159Clo, Dyn2

MMRRC Submission

039666-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1629 (G1)

Quality Score

162

Status

Not validated

Chromosome

Chromosomal Location

21424908-21507759 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21504458 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 642 (L642Q)

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

probably damaging
Transcript: ENSMUST00000072362
AA Change: L696Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072199
Gene: ENSMUSG00000033335
AA Change: L696Q

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

probably damaging
Transcript: ENSMUST00000091087
AA Change: L692Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088616
Gene: ENSMUSG00000033335
AA Change: L692Q

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

probably damaging
Transcript: ENSMUST00000115404
AA Change: L696Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111063
Gene: ENSMUSG00000033335
AA Change: L696Q

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

probably damaging
Transcript: ENSMUST00000165766
AA Change: L696Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128961
Gene: ENSMUSG00000033335
AA Change: L696Q

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

probably damaging
Transcript: ENSMUST00000172482
AA Change: L696Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133564
Gene: ENSMUSG00000033335
AA Change: L696Q

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

probably damaging
Transcript: ENSMUST00000173397
AA Change: L696Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134243
Gene: ENSMUSG00000033335
AA Change: L696Q

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

probably damaging
Transcript: ENSMUST00000174050
AA Change: L642Q

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

SMART Domains

Protein: ENSMUSP00000134696
Gene: ENSMUSG00000033335
AA Change: L642Q

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	C	18: 58,954,619	I574L	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
BC005624	T	C	2: 30,974,008	E191G	probably damaging	Het
Cbx2	A	G	11: 119,028,980	D457G	probably damaging	Het
Ccdc110	A	G	8: 45,942,127	K352E	probably benign	Het
Cdk14	A	T	5: 5,103,807	H183Q	probably benign	Het
Cfap58	A	G	19: 47,941,339	T80A	probably benign	Het
Cftr	C	T	6: 18,226,106	T351I	probably damaging	Het
Col27a1	A	G	4: 63,329,863		probably benign	Het
Cp	T	A	3: 19,966,450		probably null	Het
Cpne8	A	T	15: 90,571,972	V196E	probably benign	Het
Dmxl1	T	G	18: 49,859,286		probably null	Het
Dock2	G	T	11: 34,262,480		probably null	Het
Dock9	A	G	14: 121,543,574	F2091L	possibly damaging	Het
Eaf2	A	G	16: 36,824,701	V53A	probably damaging	Het
Fam208b	T	C	13: 3,574,121	H1943R	possibly damaging	Het
Fbl	G	T	7: 28,174,787		probably benign	Het
Fbn2	T	C	18: 58,026,538	D2373G	probably damaging	Het
Gbp2b	A	G	3: 142,610,974	Y462C	possibly damaging	Het
Il1rl2	T	A	1: 40,356,860	F348I	probably benign	Het
Khdc1a	T	A	1: 21,350,897	I102N	possibly damaging	Het
Klhl11	T	C	11: 100,464,186	T270A	probably benign	Het
Lama1	T	C	17: 67,805,428	S2288P	probably benign	Het
Lrfn4	T	C	19: 4,613,495	E337G	possibly damaging	Het
Macf1	C	A	4: 123,508,415	E549*	probably null	Het
Mmp3	G	T	9: 7,447,641	V209F	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myh9	G	A	15: 77,764,401	R1725W	probably damaging	Het
Nbea	A	T	3: 56,002,891	D1294E	possibly damaging	Het
Nrcam	G	A	12: 44,563,986	A496T	probably benign	Het
Nufip2	A	G	11: 77,693,008	T583A	probably benign	Het
Olfr1033	A	G	2: 86,041,422	T36A	probably damaging	Het
Ppig	C	A	2: 69,735,873	T128K	probably damaging	Het
Ppp2r2a	A	T	14: 67,019,759	C341S	possibly damaging	Het
Ptpre	A	T	7: 135,669,799	D374V	probably damaging	Het
Ranbp3l	A	C	15: 9,064,988	Q485P	probably damaging	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Slc1a7	A	G	4: 108,008,143	Y276C	probably damaging	Het
Smarcad1	A	G	6: 65,067,107	D221G	probably benign	Het
Smn1	C	A	13: 100,127,896	T45N	probably damaging	Het
Son	T	C	16: 91,657,622	S1086P	probably damaging	Het
Ssmem1	T	A	6: 30,512,492	Y45N	possibly damaging	Het
Tmem184c	A	C	8: 77,602,922	F170V	possibly damaging	Het
Tmem184c	A	T	8: 77,606,162		probably null	Het
Vmn1r59	C	T	7: 5,454,467	C98Y	probably damaging	Het
Vmn2r23	T	A	6: 123,713,427	S421T	probably benign	Het
Vmn2r98	T	C	17: 19,067,383	S493P	possibly damaging	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
R1678:Dnm2	UTSW	9	21467532	missense	possibly damaging	0.89
R1848:Dnm2	UTSW	9	21505681	missense	possibly damaging	0.87
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'- AGCTGTGCAAAGTTAGAACAAGTTGGT -3'
(R):5'- ACAAACTGCTGTCCAGACCTGTG -3'

Sequencing Primer
(F):5'- ggttgggtgggtgggtg -3'
(R):5'- TTTTGGAGCCACGTGTCA -3'

Posted On

2014-04-24