Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Dnm2'

567317

Institutional Source

Beutler Lab

Gene Symbol

Dnm2

Ensembl Gene

ENSMUSG00000033335

Gene Name

dynamin 2

Synonyms

b2b2159Clo, Dyn2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21424908-21507759 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21485687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 487 (N487Y)

Ref Sequence

ENSEMBL: ENSMUSP00000072199 (fasta)

Gene Model

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

AlphaFold

P39054

Predicted Effect

probably damaging
Transcript: ENSMUST00000072362
AA Change: N487Y

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

SMART Domains

Protein: ENSMUSP00000072199
Gene: ENSMUSG00000033335
AA Change: N487Y

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: N487Y

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

SMART Domains

Protein: ENSMUSP00000088616
Gene: ENSMUSG00000033335
AA Change: N487Y

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: N487Y

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

SMART Domains

Protein: ENSMUSP00000111063
Gene: ENSMUSG00000033335
AA Change: N487Y

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: N487Y

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

SMART Domains

Protein: ENSMUSP00000128961
Gene: ENSMUSG00000033335
AA Change: N487Y

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: N487Y

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

SMART Domains

Protein: ENSMUSP00000133564
Gene: ENSMUSG00000033335
AA Change: N487Y

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

SMART Domains

Protein: ENSMUSP00000133858
Gene: ENSMUSG00000033335
AA Change: N149Y

Domain	Start	End	E-Value	Type
Pfam:Dynamin_M	1	163	2.4e-55	PFAM
Pfam:PH	193	248	2.6e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173397
AA Change: N487Y

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

SMART Domains

Protein: ENSMUSP00000134243
Gene: ENSMUSG00000033335
AA Change: N487Y

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

SMART Domains

Protein: ENSMUSP00000134696
Gene: ENSMUSG00000033335
AA Change: N437Y

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

Meta Mutation Damage Score

0.9661

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 17,118,395	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,813	L285F	probably damaging	Het
Ankrd6	A	T	4: 32,816,949	Y393N	possibly damaging	Het
Arhgap45	A	G	10: 80,029,182	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,347,120		probably null	Het
B4galnt3	T	C	6: 120,215,431	D448G	probably benign	Het
Capn1	C	G	19: 5,993,908	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,399,384	S474P	probably benign	Het
Cdk12	T	A	11: 98,249,800	L1289*	probably null	Het
Cramp1l	A	T	17: 24,974,745	N920K	possibly damaging	Het
Cubn	C	T	2: 13,340,332	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,223,959	I581N	probably damaging	Het
Enc1	A	C	13: 97,245,093	N37T	probably damaging	Het
Ephb3	T	G	16: 21,222,226	I932S	probably benign	Het
Frk	T	A	10: 34,591,938	M316K	probably damaging	Het
Gdap2	C	T	3: 100,202,033	R25C	unknown	Het
Gm10436	A	C	12: 88,181,749	C32W	probably damaging	Het
Gpat2	T	A	2: 127,434,890	D671E	probably damaging	Het
Gpr179	C	T	11: 97,338,846	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,007,833	S69N	probably damaging	Het
Hid1	A	C	11: 115,348,482	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,343,081	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,619,769	F120L	probably damaging	Het
Kif16b	C	T	2: 142,712,931	R649Q	probably benign	Het
Kif17	A	T	4: 138,262,643	E47D	probably benign	Het
Kmt2b	T	C	7: 30,580,471	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,849,418	S3342T	unknown	Het
Krt82	A	G	15: 101,542,907	C356R	probably damaging	Het
Lrit2	A	G	14: 37,072,199	K407E	probably benign	Het
Malt1	T	A	18: 65,451,569	H325Q	possibly damaging	Het
Mccc2	T	G	13: 99,988,600	D187A	possibly damaging	Het
Mgll	T	A	6: 88,814,121		probably null	Het
Mindy2	T	G	9: 70,610,959	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,842,294	V96M	unknown	Het
Nlrp4e	A	G	7: 23,321,528	E480G	probably benign	Het
Nup98	A	G	7: 102,134,795	I1093T	probably benign	Het
Olfr1288	A	T	2: 111,478,760		probably benign	Het
Olfr243	G	T	7: 103,716,966	R124L	probably damaging	Het
Olfr350	G	A	2: 36,850,125	M26I	probably benign	Het
Olfr541	G	A	7: 140,705,147	V299I	probably benign	Het
Pcdhb6	A	T	18: 37,335,478	H484L	probably benign	Het
Phldb1	T	C	9: 44,694,047	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 72,070,964	A275D	probably damaging	Het
Polr2a	A	T	11: 69,747,292		probably null	Het
Polr3a	A	G	14: 24,459,987	C960R	probably benign	Het
Pou6f2	G	A	13: 18,239,713	A159V		Het
Pramef6	A	C	4: 143,896,775	Y276*	probably null	Het
Psmc4	A	G	7: 28,042,660	V303A	probably benign	Het
Ptdss2	A	G	7: 141,151,732	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,589,008	Y1295*	probably null	Het
Rbm19	A	G	5: 120,186,218	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,021,102	Y183*	probably null	Het
Rnd1	T	C	15: 98,670,799	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,418,179	C282S	probably damaging	Het
S100b	G	A	10: 76,257,092	G20R	probably benign	Het
Sae1	G	T	7: 16,368,544	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600	G1554*	probably null	Het
Samhd1	T	C	2: 157,135,020	S55G	probably benign	Het
Sgsm1	T	C	5: 113,273,646	D525G	probably benign	Het
Slc28a3	A	T	13: 58,563,172	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,318,390	N67K	probably benign	Het
Smarca4	T	A	9: 21,638,800	I402N	probably damaging	Het
St7l	T	C	3: 104,889,353	F261L	probably benign	Het
Syde2	T	A	3: 146,015,798	V1140D	probably damaging	Het
Syt6	T	A	3: 103,587,472	I251N	probably damaging	Het
Taok2	T	C	7: 126,866,818	E916G	probably damaging	Het
Tecta	A	G	9: 42,377,992	S426P	probably damaging	Het
Thra	T	C	11: 98,764,308	I338T	probably damaging	Het
Trub1	A	T	19: 57,472,703	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,545	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,183,500	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,330,541	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,313,250	Y100H	probably 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
R1629:Dnm2	UTSW	9	21504458	missense	probably damaging	1.00
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
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
R9275:Dnm2	UTSW	9	21505681	missense	possibly damaging	0.87
R9278:Dnm2	UTSW	9	21505681	missense	possibly damaging	0.87
R9383:Dnm2	UTSW	9	21472624	missense	probably damaging	1.00
R9610:Dnm2	UTSW	9	21503677	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTTAGCCTGCCCGCTACAC -3'
(R):5'- GAGTACACACCTTGTCCCTGAG -3'

Sequencing Primer
(F):5'- CCGCTACACCCTGTCGG -3'
(R):5'- TGTCCCTGAGATGTCCATAGAC -3'

Posted On

2019-06-26