Mutagenetix > Incidental Mutation

Incidental Mutation 'R4561:Mfn2'

343084

Institutional Source

Beutler Lab

Gene Symbol

Mfn2

Ensembl Gene

ENSMUSG00000029020

Gene Name

mitofusin 2

Synonyms

hypertension related protein 1, Fzo, D630023P19Rik

MMRRC Submission

041786-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

147958056-147989161 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 147961492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 707 (R707L)

Ref Sequence

ENSEMBL: ENSMUSP00000101341 (fasta)

Gene Model

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

AlphaFold

Q80U63

Predicted Effect

probably damaging
Transcript: ENSMUST00000030884
AA Change: R707L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030884
Gene: ENSMUSG00000029020
AA Change: R707L

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 benign
Transcript: ENSMUST00000105714

SMART Domains

Protein: ENSMUSP00000101339
Gene: ENSMUSG00000029020

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 damaging
Transcript: ENSMUST00000105715
AA Change: R707L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101340
Gene: ENSMUSG00000029020
AA Change: R707L

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 damaging
Transcript: ENSMUST00000105716
AA Change: R707L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101341
Gene: ENSMUSG00000029020
AA Change: R707L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 69,837,848 (GRCm39)	S1601P	probably damaging	Het
Arnt	A	G	3: 95,359,924 (GRCm39)	N56D	probably damaging	Het
Atad5	A	G	11: 79,986,715 (GRCm39)	T601A	probably benign	Het
Calr4	A	G	4: 109,103,379 (GRCm39)	N163S	probably damaging	Het
Cenpc1	C	A	5: 86,195,491 (GRCm39)	A93S	probably damaging	Het
Cep135	C	T	5: 76,786,040 (GRCm39)	H1048Y	possibly damaging	Het
Ctnna2	A	G	6: 77,613,696 (GRCm39)		probably null	Het
Ddx60	T	C	8: 62,395,495 (GRCm39)	L144P	probably damaging	Het
Dera	A	T	6: 137,757,736 (GRCm39)	T96S	possibly damaging	Het
Dock9	T	A	14: 121,796,419 (GRCm39)	M1853L	probably benign	Het
Erbb4	G	A	1: 68,383,080 (GRCm39)	R306*	probably null	Het
Glyat	G	T	19: 12,628,644 (GRCm39)	L146F	possibly damaging	Het
Grk4	C	A	5: 34,852,157 (GRCm39)	Q134K	probably benign	Het
Hkdc1	T	C	10: 62,245,618 (GRCm39)	Q181R	probably benign	Het
Huwe1	A	T	X: 150,646,955 (GRCm39)	I682F	probably damaging	Het
Ipo4	C	T	14: 55,867,546 (GRCm39)		probably benign	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,479,262 (GRCm39)		probably benign	Het
Kcnd2	A	G	6: 21,216,395 (GRCm39)	Q33R	probably benign	Het
Kdm7a	C	T	6: 39,129,757 (GRCm39)	R473Q	probably damaging	Het
Klhl30	A	T	1: 91,288,753 (GRCm39)	H504L	probably damaging	Het
Map4	A	G	9: 109,881,439 (GRCm39)	Y101C	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myof	T	C	19: 37,911,438 (GRCm39)	N1511D	probably benign	Het
Neb	A	T	2: 52,176,167 (GRCm39)	Y1431N	probably damaging	Het
Nlrc5	A	G	8: 95,203,774 (GRCm39)	T625A	probably damaging	Het
Or5g27	G	T	2: 85,409,964 (GRCm39)	C127F	probably damaging	Het
Pax2	A	G	19: 44,824,402 (GRCm39)	Y374C	unknown	Het
Pde8a	T	A	7: 80,958,568 (GRCm39)	Y315*	probably null	Het
Pkhd1	A	T	1: 20,604,943 (GRCm39)	L1124Q	possibly damaging	Het
Ppp1r3a	A	G	6: 14,754,681 (GRCm39)	F189L	probably damaging	Het
Prex2	G	A	1: 11,254,769 (GRCm39)		probably null	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Slc22a22	T	A	15: 57,126,781 (GRCm39)	Q77L	probably damaging	Het
Slc24a2	A	T	4: 87,145,634 (GRCm39)	V140D	probably damaging	Het
Slc35g2	C	A	9: 100,435,287 (GRCm39)	R128L	probably damaging	Het
Slco1b2	A	G	6: 141,616,893 (GRCm39)	T409A	probably benign	Het
Spag7	T	C	11: 70,555,816 (GRCm39)	I80M	probably damaging	Het
Srgap3	A	G	6: 112,758,015 (GRCm39)	M164T	probably damaging	Het
Sspo	A	T	6: 48,452,468 (GRCm39)		probably null	Het
Tcte2	T	C	17: 13,942,864 (GRCm39)		probably benign	Het
Tmem117	A	T	15: 94,992,677 (GRCm39)	M446L	probably benign	Het
Tmtc4	T	C	14: 123,200,710 (GRCm39)	T194A	probably benign	Het
Ttc21b	T	C	2: 66,016,562 (GRCm39)	Y1269C	probably damaging	Het
Zfp236	A	T	18: 82,638,531 (GRCm39)	I1363N	probably damaging	Het
Zfp760	T	A	17: 21,942,648 (GRCm39)	S608T	probably benign	Het
Zfp947	G	T	17: 22,365,124 (GRCm39)	Y183*	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
R2260:Mfn2	UTSW	4	147,979,063 (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
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'- GTTCAGCAGTGCCAAGCAAAC -3'
(R):5'- AGATCCCAAAAGCAGGACTG -3'

Sequencing Primer
(F):5'- GCAGTGCCAAGCAAACATCTC -3'
(R):5'- TGCAGGCCAGAGCAGATGTG -3'

Posted On

2015-09-24