Mutagenetix > Incidental Mutation

Incidental Mutation 'R4832:Dnm2'

374503

Institutional Source

Beutler Lab

Gene Symbol

Dnm2

Ensembl Gene

ENSMUSG00000033335

Gene Name

dynamin 2

Synonyms

b2b2159Clo, Dyn2

MMRRC Submission

042448-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21336204-21419055 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 21385975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P39054

Predicted Effect

probably null
Transcript: ENSMUST00000072362

SMART Domains

Protein: ENSMUSP00000072199
Gene: ENSMUSG00000033335

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 null
Transcript: ENSMUST00000091087

SMART Domains

Protein: ENSMUSP00000088616
Gene: ENSMUSG00000033335

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 null
Transcript: ENSMUST00000115404

SMART Domains

Protein: ENSMUSP00000111063
Gene: ENSMUSG00000033335

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 null
Transcript: ENSMUST00000115404

SMART Domains

Protein: ENSMUSP00000111063
Gene: ENSMUSG00000033335

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 null
Transcript: ENSMUST00000165766

SMART Domains

Protein: ENSMUSP00000128961
Gene: ENSMUSG00000033335

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

noncoding transcript
Transcript: ENSMUST00000169194

Predicted Effect

probably null
Transcript: ENSMUST00000172482

SMART Domains

Protein: ENSMUSP00000133564
Gene: ENSMUSG00000033335

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 null
Transcript: ENSMUST00000172482

SMART Domains

Protein: ENSMUSP00000133564
Gene: ENSMUSG00000033335

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: ENSMUST00000172833

SMART Domains

Protein: ENSMUSP00000133858
Gene: ENSMUSG00000033335

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 null
Transcript: ENSMUST00000174050

SMART Domains

Protein: ENSMUSP00000134696
Gene: ENSMUSG00000033335

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 null
Transcript: ENSMUST00000174050

SMART Domains

Protein: ENSMUSP00000134696
Gene: ENSMUSG00000033335

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 null
Transcript: ENSMUST00000173397

SMART Domains

Protein: ENSMUSP00000134243
Gene: ENSMUSG00000033335

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (106/108)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,597 (GRCm39)	V186A	possibly damaging	Het
1700088E04Rik	A	T	15: 79,019,409 (GRCm39)	M198K	probably damaging	Het
4933402J07Rik	A	G	8: 88,294,601 (GRCm39)	K84R	probably null	Het
Aamdc	T	C	7: 97,199,773 (GRCm39)		probably null	Het
Abcc9	A	G	6: 142,617,282 (GRCm39)	V594A	probably damaging	Het
Adamts13	G	A	2: 26,879,414 (GRCm39)	D656N	probably benign	Het
Adcy10	G	T	1: 165,334,213 (GRCm39)	C122F	probably damaging	Het
Adi1	A	G	12: 28,725,252 (GRCm39)	M1V	probably null	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Akt1	G	T	12: 112,623,521 (GRCm39)	P313Q	probably damaging	Het
Ano3	A	T	2: 110,498,067 (GRCm39)	M758K	probably damaging	Het
Baz2a	T	A	10: 127,958,999 (GRCm39)	N1168K	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bcap29	A	G	12: 31,674,202 (GRCm39)	I131T	probably benign	Het
Brd10	G	T	19: 29,694,616 (GRCm39)	L1626I	possibly damaging	Het
Btnl6	T	C	17: 34,732,966 (GRCm39)	D299G	possibly damaging	Het
Ccdc66	A	G	14: 27,222,524 (GRCm39)	I73T	probably benign	Het
Cdh2	A	G	18: 16,760,754 (GRCm39)	S538P	probably benign	Het
Cfap54	T	A	10: 92,803,390 (GRCm39)	M1551L	probably benign	Het
Chd2	G	A	7: 73,151,873 (GRCm39)	A243V	probably damaging	Het
Cntnap1	T	A	11: 101,073,845 (GRCm39)	N665K	probably damaging	Het
Colgalt2	C	T	1: 152,360,749 (GRCm39)	T262I	possibly damaging	Het
Cyp24a1	T	C	2: 170,338,098 (GRCm39)	I149V	probably benign	Het
Cyp2a5	T	A	7: 26,534,970 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,366,080 (GRCm39)		probably null	Het
Dnah17	T	A	11: 117,917,606 (GRCm39)	I4158F	probably damaging	Het
Dpp7	A	T	2: 25,242,398 (GRCm39)		probably benign	Het
Epha6	T	A	16: 59,780,776 (GRCm39)	I642F	probably damaging	Het
Erbb4	T	C	1: 68,369,397 (GRCm39)	S415G	probably benign	Het
Fancd2	A	G	6: 113,530,683 (GRCm39)	T439A	probably benign	Het
Fat1	G	A	8: 45,466,102 (GRCm39)	V1431M	possibly damaging	Het
Fhod3	G	A	18: 25,223,305 (GRCm39)	A884T	probably benign	Het
Fsip2	A	G	2: 82,820,515 (GRCm39)	D5416G	possibly damaging	Het
Gabarap	C	T	11: 69,882,678 (GRCm39)		probably benign	Het
Garre1	T	C	7: 33,938,333 (GRCm39)		probably benign	Het
Gm11544	C	T	11: 94,736,532 (GRCm39)		noncoding transcript	Het
Gnat2	A	C	3: 108,007,964 (GRCm39)	K304Q	probably benign	Het
Gpr141b	T	A	13: 19,913,840 (GRCm39)		noncoding transcript	Het
Gramd4	C	T	15: 86,019,057 (GRCm39)	A575V	probably benign	Het
Gtpbp10	G	A	5: 5,589,295 (GRCm39)	A274V	possibly damaging	Het
Gzmb	A	G	14: 56,497,679 (GRCm39)	I187T	probably damaging	Het
H2-M10.2	G	A	17: 36,595,219 (GRCm39)	T315I	probably damaging	Het
Haus5	A	T	7: 30,356,452 (GRCm39)	F524I	probably damaging	Het
Herc1	A	G	9: 66,403,253 (GRCm39)	S4391G	probably benign	Het
Herc2	T	A	7: 55,748,165 (GRCm39)	L511*	probably null	Het
Htt	T	A	5: 34,982,184 (GRCm39)	C923S	probably benign	Het
Idua	T	C	5: 108,817,247 (GRCm39)	S7P	probably benign	Het
Ighv16-1	A	T	12: 114,032,466 (GRCm39)	L112Q	probably damaging	Het
Igkv1-110	A	G	6: 68,248,185 (GRCm39)	K98R	probably benign	Het
Kif15	G	A	9: 122,831,191 (GRCm39)		probably null	Het
Leng9	C	A	7: 4,152,029 (GRCm39)	G216W	probably damaging	Het
Lrpprc	A	G	17: 85,014,584 (GRCm39)	L1306S	probably benign	Het
Lztfl1	C	A	9: 123,544,454 (GRCm39)	E20D	possibly damaging	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Map3k4	C	T	17: 12,490,667 (GRCm39)	E255K	probably damaging	Het
Megf9	G	A	4: 70,452,665 (GRCm39)	T132M	probably damaging	Het
Mob4	T	C	1: 55,184,411 (GRCm39)		probably benign	Het
Mttp	G	A	3: 137,821,811 (GRCm39)	A252V	probably benign	Het
Mxi1	A	G	19: 53,358,745 (GRCm39)	D226G	probably damaging	Het
Myh14	A	G	7: 44,274,566 (GRCm39)	S1249P	probably benign	Het
Mylk	G	A	16: 34,742,737 (GRCm39)	G1083D	probably benign	Het
Mylk4	T	G	13: 32,905,960 (GRCm39)	I408L	probably benign	Het
Nbas	A	G	12: 13,533,740 (GRCm39)	S1792G	probably benign	Het
Nelfb	A	G	2: 25,099,981 (GRCm39)	V212A	probably damaging	Het
Nisch	T	C	14: 30,899,587 (GRCm39)		probably benign	Het
Nqo1	C	G	8: 108,115,477 (GRCm39)	D267H	probably benign	Het
Or8u10	C	A	2: 85,915,190 (GRCm39)	L310F	probably benign	Het
Pcid2	T	A	8: 13,135,425 (GRCm39)	I195F	probably damaging	Het
Pcnx2	A	T	8: 126,478,927 (GRCm39)	M2107K	probably damaging	Het
Pgd	A	T	4: 149,241,048 (GRCm39)		probably benign	Het
Prim2	T	C	1: 33,503,145 (GRCm39)	M430V	probably benign	Het
Prkaa1	A	G	15: 5,190,101 (GRCm39)	T40A	probably damaging	Het
Ptges	T	C	2: 30,793,232 (GRCm39)		probably benign	Het
Ptprn	T	C	1: 75,234,909 (GRCm39)	E226G	probably benign	Het
Rab14	A	G	2: 35,079,978 (GRCm39)	F55S	probably damaging	Het
Ralgps2	A	T	1: 156,684,637 (GRCm39)		probably benign	Het
Rgs11	C	T	17: 26,426,542 (GRCm39)	H258Y	probably benign	Het
Rhpn2	T	C	7: 35,075,774 (GRCm39)		probably null	Het
Rprd2	A	T	3: 95,681,483 (GRCm39)	V452E	probably damaging	Het
Scube3	C	A	17: 28,384,989 (GRCm39)	H646Q	probably damaging	Het
Selp	A	T	1: 163,953,909 (GRCm39)	I70F	probably damaging	Het
Septin2	A	G	1: 93,426,849 (GRCm39)	I153V	probably damaging	Het
Sh3rf3	G	A	10: 58,649,905 (GRCm39)	S170N	probably benign	Het
Skint4	A	T	4: 112,000,963 (GRCm39)	I353F	possibly damaging	Het
Slc16a12	A	G	19: 34,657,780 (GRCm39)	I41T	possibly damaging	Het
Snai2	T	C	16: 14,524,881 (GRCm39)	F129S	probably damaging	Het
Top3b	C	T	16: 16,708,526 (GRCm39)	R629*	probably null	Het
Trim17	T	A	11: 58,862,270 (GRCm39)	V434E	probably damaging	Het
Ttn	G	A	2: 76,615,327 (GRCm39)	P15051L	probably damaging	Het
Uggt2	A	T	14: 119,239,259 (GRCm39)	I1391N	probably damaging	Het
Usp8	A	T	2: 126,596,958 (GRCm39)	M923L	probably damaging	Het
Vmn1r176	T	C	7: 23,534,463 (GRCm39)	H230R	possibly damaging	Het
Vmn1r217	C	A	13: 23,298,159 (GRCm39)	D248Y	probably damaging	Het
Vmn2r14	A	T	5: 109,363,976 (GRCm39)	C647S	probably damaging	Het
Vwa5b1	A	G	4: 138,332,851 (GRCm39)	I237T	probably damaging	Het
Zan	T	A	5: 137,391,423 (GRCm39)	D4687V	unknown	Het
Zfp273	T	C	13: 67,973,484 (GRCm39)	V204A	probably benign	Het
Zfp956	T	G	6: 47,928,987 (GRCm39)		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
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
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'- CTGAGTATTCTGGCCTGAGG -3'
(R):5'- AGCACACAATGGTAACTTGTTG -3'

Sequencing Primer
(F):5'- GCCTGTGGTACCCTGTCTGAC -3'
(R):5'- GTTGAAACAATGTGACTTTTCCCTG -3'

Posted On

2016-03-16