Mutagenetix > Incidental Mutation

Incidental Mutation 'R4948:Dnm2'

383584

Institutional Source

Beutler Lab

Gene Symbol

Dnm2

Ensembl Gene

ENSMUSG00000033335

Gene Name

dynamin 2

Synonyms

b2b2159Clo, Dyn2

MMRRC Submission

042545-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4948 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

21336204-21419055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21415829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 721 (D721G)

Ref Sequence

ENSEMBL: ENSMUSP00000133564 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000072362
AA Change: D721G

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072199
Gene: ENSMUSG00000033335
AA Change: D721G

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 benign
Transcript: ENSMUST00000091087
AA Change: D717G

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000088616
Gene: ENSMUSG00000033335
AA Change: D717G

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

possibly damaging
Transcript: ENSMUST00000115404
AA Change: D721G

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111063
Gene: ENSMUSG00000033335
AA Change: D721G

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: ENSMUST00000165766
AA Change: D721G

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128961
Gene: ENSMUSG00000033335
AA Change: D721G

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

possibly damaging
Transcript: ENSMUST00000172482
AA Change: D721G

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133564
Gene: ENSMUSG00000033335
AA Change: D721G

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: ENSMUST00000174050
AA Change: D667G

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134696
Gene: ENSMUSG00000033335
AA Change: D667G

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

probably benign
Transcript: ENSMUST00000173397
AA Change: D721G

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000134243
Gene: ENSMUSG00000033335
AA Change: D721G

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

probably benign
Transcript: ENSMUST00000213167

Predicted Effect

probably benign
Transcript: ENSMUST00000214285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213316

Predicted Effect

probably benign
Transcript: ENSMUST00000214576

Meta Mutation Damage Score

0.3069

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.2%

Validation Efficiency

94% (103/109)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 16,936,154 (GRCm39)		probably null	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Alas1	A	T	9: 106,124,077 (GRCm39)	L27*	probably null	Het
Aldh1a7	A	G	19: 20,704,374 (GRCm39)	V40A	possibly damaging	Het
Appbp2	A	T	11: 85,085,409 (GRCm39)	I499K	possibly damaging	Het
B3gnt5	A	C	16: 19,587,894 (GRCm39)	M38L	probably benign	Het
Brd8	A	G	18: 34,747,585 (GRCm39)	V92A	probably damaging	Het
Btla	A	T	16: 45,063,091 (GRCm39)	E151D	probably benign	Het
Cd79b	T	A	11: 106,203,687 (GRCm39)	T67S	probably benign	Het
Cep192	A	G	18: 67,949,875 (GRCm39)	R320G	probably benign	Het
Chad	A	C	11: 94,456,528 (GRCm39)	D202A	probably damaging	Het
Chil6	A	G	3: 106,295,988 (GRCm39)		probably benign	Het
Cpz	T	C	5: 35,674,748 (GRCm39)	E167G	possibly damaging	Het
Crisp2	T	G	17: 41,076,159 (GRCm39)	H225P	probably damaging	Het
Cyp2c23	T	C	19: 44,010,138 (GRCm39)	Y69C	possibly damaging	Het
Dcp1a	T	A	14: 30,201,724 (GRCm39)	L49H	probably damaging	Het
Dnah6	T	A	6: 73,030,672 (GRCm39)	H3380L	probably benign	Het
Dnai3	T	A	3: 145,788,820 (GRCm39)	K254*	probably null	Het
Dnpep	G	T	1: 75,293,404 (GRCm39)	T15K	probably benign	Het
Dock3	A	T	9: 106,868,354 (GRCm39)	D643E	probably damaging	Het
Ear6	C	T	14: 52,091,573 (GRCm39)	T40I	possibly damaging	Het
Fancm	A	G	12: 65,137,748 (GRCm39)	D313G	probably damaging	Het
Fbxw16	T	A	9: 109,267,415 (GRCm39)	E272V	probably damaging	Het
Frmd4b	T	A	6: 97,283,691 (GRCm39)	E393D	probably benign	Het
Fryl	T	A	5: 73,246,473 (GRCm39)	M1100L	probably benign	Het
Gjd3	T	C	11: 102,691,247 (GRCm39)	H252R	probably damaging	Het
Gm10518	T	C	1: 179,631,477 (GRCm39)		probably benign	Het
Gna14	A	G	19: 16,580,656 (GRCm39)	M165V	probably benign	Het
Hells	C	A	19: 38,923,966 (GRCm39)	Q72K	probably damaging	Het
Herc1	A	G	9: 66,392,184 (GRCm39)	I4031V	probably benign	Het
Hspa2	C	T	12: 76,452,761 (GRCm39)	A485V	probably damaging	Het
Ighv1-54	T	A	12: 115,157,438 (GRCm39)	I70F	probably benign	Het
Il20rb	A	T	9: 100,343,592 (GRCm39)		probably benign	Het
Irag1	A	G	7: 110,487,236 (GRCm39)	V498A	probably damaging	Het
Krt1	C	A	15: 101,754,376 (GRCm39)	V625L	unknown	Het
Lamc3	T	C	2: 31,830,748 (GRCm39)	I1495T	probably benign	Het
Larp6	A	G	9: 60,645,063 (GRCm39)	E401G	possibly damaging	Het
Ldha	A	T	7: 46,496,805 (GRCm39)	H19L	probably benign	Het
Lrba	A	G	3: 86,192,335 (GRCm39)	N83S	probably damaging	Het
Lrp4	G	T	2: 91,316,231 (GRCm39)	R783L	probably benign	Het
Lrrk2	T	G	15: 91,687,592 (GRCm39)	I2227S	probably benign	Het
Lvrn	T	C	18: 47,013,803 (GRCm39)	L495P	probably damaging	Het
Macf1	T	C	4: 123,391,548 (GRCm39)	N1077S	probably damaging	Het
Mboat1	A	G	13: 30,425,213 (GRCm39)	T425A	probably damaging	Het
Mcam	A	G	9: 44,047,863 (GRCm39)	E36G	probably damaging	Het
Meis1	T	A	11: 18,966,308 (GRCm39)	T22S	probably benign	Het
Micu1	A	G	10: 59,699,076 (GRCm39)	K451R	possibly damaging	Het
Nat8	A	T	6: 85,807,505 (GRCm39)	D209E	probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nmral1	G	A	16: 4,534,274 (GRCm39)	R56*	probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or10j27	A	G	1: 172,958,526 (GRCm39)	V86A	probably benign	Het
Or5b99	A	T	19: 12,977,195 (GRCm39)	T282S	probably benign	Het
Or5g25	T	C	2: 85,477,916 (GRCm39)	I250V	probably benign	Het
Or5h24	G	A	16: 58,919,340 (GRCm39)	T5I	probably damaging	Het
Palm3	A	T	8: 84,753,708 (GRCm39)	R132*	probably null	Het
Pax2	A	G	19: 44,804,479 (GRCm39)	Y272C	probably damaging	Het
Phc2	G	A	4: 128,616,908 (GRCm39)	A394T	probably benign	Het
Phf2	C	A	13: 48,961,198 (GRCm39)	G831C	unknown	Het
Pik3c2b	G	A	1: 133,027,453 (GRCm39)		probably null	Het
Plin2	T	A	4: 86,580,228 (GRCm39)	I178F	probably benign	Het
Pramel32	A	T	4: 88,547,185 (GRCm39)	L162H	probably damaging	Het
Prdm14	T	A	1: 13,192,855 (GRCm39)	I295F	probably damaging	Het
Psmd5	C	T	2: 34,760,795 (GRCm39)	R47H	probably benign	Het
Ptchd3	T	A	11: 121,733,342 (GRCm39)	I744K	probably damaging	Het
Ptrh1	T	A	2: 32,666,557 (GRCm39)		probably benign	Het
Rab6a	A	G	7: 100,277,627 (GRCm39)	D49G	probably damaging	Het
Radil	A	T	5: 142,470,994 (GRCm39)	D1062E	probably benign	Het
Robo2	A	G	16: 74,149,726 (GRCm39)	V34A	possibly damaging	Het
Sall3	G	A	18: 81,014,626 (GRCm39)	P1029S	probably benign	Het
Sec14l3	A	G	11: 4,018,101 (GRCm39)	D127G	possibly damaging	Het
Sel1l2	A	G	2: 140,086,086 (GRCm39)	Y502H	probably damaging	Het
Serpina1f	A	G	12: 103,656,010 (GRCm39)	V406A	probably damaging	Het
Sf3b3	T	C	8: 111,540,301 (GRCm39)	D1040G	probably damaging	Het
Sgcd	A	G	11: 46,870,262 (GRCm39)	I233T	possibly damaging	Het
Slc15a3	A	G	19: 10,820,410 (GRCm39)	Q9R	probably benign	Het
Slc25a46	A	G	18: 31,716,336 (GRCm39)	F389L	probably damaging	Het
Slc26a2	G	T	18: 61,331,330 (GRCm39)	C700*	probably null	Het
Slc4a7	A	G	14: 14,771,283 (GRCm38)	Y671C	possibly damaging	Het
Slc5a10	A	T	11: 61,610,708 (GRCm39)	I22N	probably damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slc6a12	A	G	6: 121,332,281 (GRCm39)	D205G	probably benign	Het
Tas2r115	G	A	6: 132,714,124 (GRCm39)	H276Y	probably damaging	Het
Tdpoz4	T	A	3: 93,704,318 (GRCm39)	I205N	probably damaging	Het
Tfeb	C	T	17: 48,096,904 (GRCm39)	T33I	probably benign	Het
Tgm3	A	G	2: 129,890,240 (GRCm39)	T668A	probably benign	Het
Tnpo3	A	G	6: 29,582,259 (GRCm39)	V201A	probably benign	Het
Tpcn1	T	A	5: 120,694,596 (GRCm39)	M158L	probably benign	Het
Trim47	A	C	11: 115,996,918 (GRCm39)	L612R	probably damaging	Het
Trmt10c	A	T	16: 55,854,438 (GRCm39)	L399*	probably null	Het
Trpm2	A	T	10: 77,753,626 (GRCm39)	S1293T	probably benign	Het
Ttn	C	T	2: 76,582,941 (GRCm39)	V22651I	probably damaging	Het
Tubgcp5	A	G	7: 55,455,871 (GRCm39)	I300V	probably benign	Het
Uty	T	A	Y: 1,136,883 (GRCm39)	Q844L	probably damaging	Het
Vmn2r85	C	T	10: 130,254,990 (GRCm39)	E565K	probably damaging	Het
Vmn2r97	T	C	17: 19,167,561 (GRCm39)	V605A	possibly damaging	Het
Vwa3a	T	C	7: 120,375,487 (GRCm39)	V399A	probably damaging	Het
Wnk4	G	A	11: 101,159,107 (GRCm39)	R508Q	probably damaging	Het
Zfp217	A	G	2: 169,961,130 (GRCm39)	V399A	probably damaging	Het
Zfp616	T	A	11: 73,974,830 (GRCm39)	N457K	possibly damaging	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
R1848:Dnm2	UTSW	9	21,416,977 (GRCm39)	missense	possibly damaging	0.87
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
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'- CCCAATCTCAACAGGCTTCTG -3'
(R):5'- TTTCCAAACTTCAGCTGTGAAC -3'

Sequencing Primer
(F):5'- CTCAACAGGCTTCTGAGTTATTGGC -3'
(R):5'- GCTGTGAACTATTTCCTAATGGGAC -3'

Posted On

2016-04-27