Mutagenetix > Incidental Mutation

Incidental Mutation 'R2260:Mfn2'

243714

Institutional Source

Beutler Lab

Gene Symbol

Mfn2

Ensembl Gene

ENSMUSG00000029020

Gene Name

mitofusin 2

Synonyms

hypertension related protein 1, Fzo, D630023P19Rik

MMRRC Submission

040260-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2260 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

147958056-147989161 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 147979063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 90 (E90*)

Ref Sequence

ENSEMBL: ENSMUSP00000117758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030884] [ENSMUST00000105714] [ENSMUST00000105715] [ENSMUST00000105716] [ENSMUST00000134172] [ENSMUST00000150881]

AlphaFold

Q80U63

Predicted Effect

probably null
Transcript: ENSMUST00000030884
AA Change: E90*

SMART Domains

Protein: ENSMUSP00000030884
Gene: ENSMUSG00000029020
AA Change: E90*

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	98	258	3.8e-6	PFAM
Pfam:Dynamin_N	99	259	2e-24	PFAM
low complexity region	336	347	N/A	INTRINSIC
coiled coil region	406	433	N/A	INTRINSIC
Pfam:Fzo_mitofusin	594	754	1.6e-77	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105714
AA Change: E90*

SMART Domains

Protein: ENSMUSP00000101339
Gene: ENSMUSG00000029020
AA Change: E90*

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	98	258	6.1e-7	PFAM
Pfam:Dynamin_N	99	259	3.6e-25	PFAM
low complexity region	336	347	N/A	INTRINSIC
coiled coil region	406	433	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105715
AA Change: E90*

SMART Domains

Protein: ENSMUSP00000101340
Gene: ENSMUSG00000029020
AA Change: E90*

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	98	258	9e-7	PFAM
Pfam:Dynamin_N	99	259	5.4e-25	PFAM
low complexity region	336	347	N/A	INTRINSIC
coiled coil region	406	433	N/A	INTRINSIC
Pfam:Fzo_mitofusin	586	756	3.9e-86	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105716
AA Change: E90*

SMART Domains

Protein: ENSMUSP00000101341
Gene: ENSMUSG00000029020
AA Change: E90*

Domain	Start	End	E-Value	Type
Pfam:MMR_HSR1	98	258	9e-7	PFAM
Pfam:Dynamin_N	99	259	5.4e-25	PFAM
low complexity region	336	347	N/A	INTRINSIC
coiled coil region	406	433	N/A	INTRINSIC
Pfam:Fzo_mitofusin	586	756	3.9e-86	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118348

Predicted Effect

probably null
Transcript: ENSMUST00000134172
AA Change: E90*

SMART Domains

Protein: ENSMUSP00000123021
Gene: ENSMUSG00000029020
AA Change: E90*

Domain	Start	End	E-Value	Type
Pfam:Dynamin_N	99	208	5.1e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000150881
AA Change: E90*

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die in mid-gestation. Structural and functional abnormalities of mitochondria are reported. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,354,978 (GRCm39)	N1252I	probably damaging	Het
Acot5	A	T	12: 84,122,643 (GRCm39)	H409L	possibly damaging	Het
Adgrv1	A	T	13: 81,716,493 (GRCm39)	V840E	probably damaging	Het
Adnp2	A	T	18: 80,171,664 (GRCm39)	M915K	probably benign	Het
Cd101	G	C	3: 100,924,261 (GRCm39)	L393V	possibly damaging	Het
Cd177	A	G	7: 24,455,661 (GRCm39)	V287A	possibly damaging	Het
Cdc37l1	A	T	19: 28,984,448 (GRCm39)	K194N	probably benign	Het
Cep126	T	C	9: 8,101,749 (GRCm39)	T262A	possibly damaging	Het
Chit1	A	G	1: 134,078,865 (GRCm39)	S392G	probably benign	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Dusp12	C	T	1: 170,708,580 (GRCm39)	R120H	probably damaging	Het
Eln	C	A	5: 134,758,508 (GRCm39)	A126S	unknown	Het
Entpd2	C	T	2: 25,288,099 (GRCm39)	P108S	probably damaging	Het
Fkbp6	C	T	5: 135,366,468 (GRCm39)		probably null	Het
Ftcd	T	A	10: 76,423,893 (GRCm39)		probably null	Het
Gdf10	T	C	14: 33,654,234 (GRCm39)	L247P	probably damaging	Het
Gigyf1	C	A	5: 137,518,594 (GRCm39)	A215E	possibly damaging	Het
Gja4	C	A	4: 127,206,623 (GRCm39)	D47Y	probably damaging	Het
Gsn	G	A	2: 35,180,349 (GRCm39)	G130E	probably damaging	Het
Hrc	C	A	7: 44,986,105 (GRCm39)	R419S	possibly damaging	Het
Itfg1	C	T	8: 86,449,306 (GRCm39)	C576Y	probably damaging	Het
Lama1	G	T	17: 68,044,502 (GRCm39)	A134S	probably damaging	Het
Larp4	T	G	15: 99,895,277 (GRCm39)	F283L	possibly damaging	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mettl18	T	A	1: 163,824,394 (GRCm39)	D238E	probably benign	Het
Mfn1	G	T	3: 32,617,575 (GRCm39)	E74*	probably null	Het
Mill2	T	A	7: 18,590,413 (GRCm39)	D164E	probably benign	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Nt5c1b	A	T	12: 10,424,965 (GRCm39)	R170S	probably damaging	Het
Or10ak11	T	C	4: 118,687,359 (GRCm39)	I93V	probably damaging	Het
Or4c100	G	A	2: 88,356,730 (GRCm39)	V268I	possibly damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pald1	G	A	10: 61,188,750 (GRCm39)	R87W	probably damaging	Het
Paox	T	A	7: 139,713,967 (GRCm39)	Y242*	probably null	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Pitrm1	C	T	13: 6,610,161 (GRCm39)	T411I	probably damaging	Het
Pkd1l3	A	G	8: 110,350,268 (GRCm39)	Q371R	probably benign	Het
Plaat5	C	T	19: 7,590,111 (GRCm39)	R46C	probably damaging	Het
Ptprk	A	G	10: 28,082,145 (GRCm39)	D38G	possibly damaging	Het
Rag2	G	A	2: 101,460,583 (GRCm39)	E298K	probably benign	Het
Rbm12b2	G	A	4: 12,095,061 (GRCm39)	R640H	probably benign	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rims2	G	T	15: 39,341,962 (GRCm39)	E604*	probably null	Het
Rin2	A	G	2: 145,720,824 (GRCm39)	D719G	probably damaging	Het
Sash1	G	A	10: 8,662,142 (GRCm39)	Q155*	probably null	Het
Tacr1	A	T	6: 82,380,756 (GRCm39)	I56F	probably damaging	Het
Tbc1d4	G	A	14: 101,731,847 (GRCm39)	T455M	probably damaging	Het
Tex24	C	T	8: 27,834,883 (GRCm39)	T137I	probably damaging	Het
Tmem200a	A	C	10: 25,869,313 (GRCm39)	S319A	probably benign	Het
Tmem242	G	T	17: 5,483,745 (GRCm39)	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,681,446 (GRCm39)	R277H	probably benign	Het
Tmprss11f	G	A	5: 86,739,269 (GRCm39)	A4V	probably benign	Het
Triobp	T	G	15: 78,875,640 (GRCm39)		probably null	Het
Tshz2	A	T	2: 169,728,326 (GRCm39)	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Vmn2r11	A	T	5: 109,201,657 (GRCm39)	Y282*	probably null	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	Het

Other mutations in Mfn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02313:Mfn2	APN	4	147,969,947 (GRCm39)	missense	probably damaging	1.00
IGL03236:Mfn2	APN	4	147,966,562 (GRCm39)	missense	probably damaging	1.00
milkshake	UTSW	4	147,971,909 (GRCm39)	missense	probably benign	0.12
R0066:Mfn2	UTSW	4	147,969,902 (GRCm39)	unclassified	probably benign
R0066:Mfn2	UTSW	4	147,969,902 (GRCm39)	unclassified	probably benign
R0326:Mfn2	UTSW	4	147,967,745 (GRCm39)	missense	probably damaging	1.00
R0376:Mfn2	UTSW	4	147,969,983 (GRCm39)	missense	probably benign	0.24
R0564:Mfn2	UTSW	4	147,967,712 (GRCm39)	missense	probably damaging	1.00
R0962:Mfn2	UTSW	4	147,966,658 (GRCm39)	missense	probably benign
R1595:Mfn2	UTSW	4	147,979,153 (GRCm39)	missense	probably benign	0.08
R2105:Mfn2	UTSW	4	147,973,162 (GRCm39)	nonsense	probably null
R4544:Mfn2	UTSW	4	147,971,909 (GRCm39)	missense	probably benign	0.12
R4546:Mfn2	UTSW	4	147,971,909 (GRCm39)	missense	probably benign	0.12
R4561:Mfn2	UTSW	4	147,961,492 (GRCm39)	missense	probably damaging	1.00
R5151:Mfn2	UTSW	4	147,970,785 (GRCm39)	missense	probably benign	0.10
R5355:Mfn2	UTSW	4	147,979,035 (GRCm39)	missense	probably damaging	1.00
R6645:Mfn2	UTSW	4	147,979,069 (GRCm39)	missense	probably damaging	1.00
R8309:Mfn2	UTSW	4	147,974,693 (GRCm39)	missense	probably benign	0.03
R9345:Mfn2	UTSW	4	147,966,649 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TGAAAGTAGATGTGTGCTCCTG -3'
(R):5'- GGAGTCAACAGAGGTGGTCTTG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- CAACAGAGGTGGTCTTGTGTGG -3'

Posted On

2014-10-16