Mutagenetix > Incidental Mutation

Incidental Mutation 'R1595:Mfn2'

175715

Institutional Source

Beutler Lab

Gene Symbol

Mfn2

Ensembl Gene

ENSMUSG00000029020

Gene Name

mitofusin 2

Synonyms

hypertension related protein 1, Fzo, D630023P19Rik

MMRRC Submission

039632-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

147958056-147989161 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 147979153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 60 (T60A)

Ref Sequence

ENSEMBL: ENSMUSP00000123021 (fasta)

Gene Model

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

AlphaFold

Q80U63

Predicted Effect

probably benign
Transcript: ENSMUST00000030884
AA Change: T60A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000030884
Gene: ENSMUSG00000029020
AA Change: T60A

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
AA Change: T60A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101339
Gene: ENSMUSG00000029020
AA Change: T60A

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 benign
Transcript: ENSMUST00000105715
AA Change: T60A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101340
Gene: ENSMUSG00000029020
AA Change: T60A

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 benign
Transcript: ENSMUST00000105716
AA Change: T60A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101341
Gene: ENSMUSG00000029020
AA Change: T60A

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 benign
Transcript: ENSMUST00000134172
AA Change: T60A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000123021
Gene: ENSMUSG00000029020
AA Change: T60A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150881
AA Change: T60A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.1786

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

97% (77/79)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	C	T	1: 75,153,944 (GRCm39)		probably null	Het
Abcc10	G	T	17: 46,633,164 (GRCm39)	P556H	probably damaging	Het
Abcc9	A	T	6: 142,578,821 (GRCm39)	D914E	probably benign	Het
Adgrf4	A	G	17: 42,978,764 (GRCm39)	V193A	probably benign	Het
Adm	A	T	7: 110,228,298 (GRCm39)	T160S	probably damaging	Het
Ammecr1l	T	C	18: 31,905,173 (GRCm39)		probably null	Het
Angpt2	T	C	8: 18,748,129 (GRCm39)	D377G	probably damaging	Het
Ankfn1	A	G	11: 89,313,593 (GRCm39)		probably null	Het
Arhgap30	T	G	1: 171,235,909 (GRCm39)	M761R	probably benign	Het
Asb4	T	G	6: 5,390,692 (GRCm39)	N28K	probably damaging	Het
Cd177	A	T	7: 24,444,389 (GRCm39)	D696E	probably benign	Het
Cd200	G	A	16: 45,215,214 (GRCm39)	T123I	probably benign	Het
Cfap70	A	G	14: 20,497,604 (GRCm39)	V50A	probably benign	Het
Chaf1b	T	C	16: 93,701,987 (GRCm39)		probably null	Het
Chgb	A	C	2: 132,635,657 (GRCm39)	D533A	probably benign	Het
Col12a1	A	G	9: 79,509,536 (GRCm39)	Y3041H	probably damaging	Het
Crot	T	C	5: 9,024,186 (GRCm39)	N337D	probably benign	Het
Csad	G	A	15: 102,086,217 (GRCm39)	A51V	probably damaging	Het
Cstdc7	T	C	18: 42,306,454 (GRCm39)	M7T	probably benign	Het
Cyp2b9	A	G	7: 25,900,332 (GRCm39)	Y380C	possibly damaging	Het
Dpysl2	G	T	14: 67,052,952 (GRCm39)	A299E	probably damaging	Het
Efcc1	A	G	6: 87,708,440 (GRCm39)	E189G	probably damaging	Het
Egfr	T	C	11: 16,856,847 (GRCm39)	I940T	probably damaging	Het
Etnk2	T	G	1: 133,300,917 (GRCm39)	L228R	possibly damaging	Het
Fitm2	A	G	2: 163,311,610 (GRCm39)	I201T	probably benign	Het
Foxo1	A	T	3: 52,253,375 (GRCm39)	M513L	probably benign	Het
Galnt16	A	T	12: 80,637,410 (GRCm39)	K379I	probably damaging	Het
Gm57858	C	T	3: 36,073,146 (GRCm39)	A379T	probably damaging	Het
Gtf2a1	T	A	12: 91,556,323 (GRCm39)	N6Y	probably damaging	Het
Kcnc1	G	A	7: 46,077,010 (GRCm39)	V271M	probably benign	Het
Klhdc8b	T	A	9: 108,328,362 (GRCm39)	D30V	probably damaging	Het
Lrrc7	G	A	3: 157,882,914 (GRCm39)	Q448*	probably null	Het
Med29	T	C	7: 28,091,928 (GRCm39)	D54G	probably damaging	Het
Mroh1	T	C	15: 76,317,730 (GRCm39)		probably benign	Het
Mxd1	A	T	6: 86,628,453 (GRCm39)	V149E	possibly damaging	Het
Naip6	A	T	13: 100,435,602 (GRCm39)	Y974N	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nhsl1	G	T	10: 18,402,096 (GRCm39)	K1107N	probably damaging	Het
Nlrc3	T	C	16: 3,783,166 (GRCm39)	E81G	probably benign	Het
Or10al3	G	T	17: 38,012,004 (GRCm39)	A148S	probably benign	Het
Or9e1	G	T	11: 58,732,478 (GRCm39)	M179I	probably benign	Het
Osbpl5	C	T	7: 143,256,955 (GRCm39)	V392M	possibly damaging	Het
Pcdhb22	T	A	18: 37,653,506 (GRCm39)	V401E	probably damaging	Het
Pcm1	T	A	8: 41,762,672 (GRCm39)	H1444Q	probably damaging	Het
Pdlim2	A	G	14: 70,402,193 (GRCm39)	Y308H	probably damaging	Het
Phf14	T	G	6: 11,988,752 (GRCm39)	L664R	possibly damaging	Het
Phkb	T	C	8: 86,753,182 (GRCm39)		probably benign	Het
Ptchd3	T	A	11: 121,721,420 (GRCm39)	F98I	probably damaging	Het
Ptprt	C	T	2: 161,652,469 (GRCm39)		probably null	Het
Rbp3	A	T	14: 33,678,155 (GRCm39)	H701L	possibly damaging	Het
Rgl1	T	C	1: 152,550,774 (GRCm39)		probably benign	Het
Satb1	A	T	17: 52,089,729 (GRCm39)	S373T	possibly damaging	Het
Scn3a	T	A	2: 65,329,323 (GRCm39)	Y769F	probably damaging	Het
Senp7	A	G	16: 56,005,131 (GRCm39)	I922V	probably damaging	Het
Serpina3g	A	G	12: 104,205,531 (GRCm39)	E90G	probably benign	Het
Sh3rf2	C	T	18: 42,244,353 (GRCm39)	T273I	probably damaging	Het
Slc15a3	A	G	19: 10,831,675 (GRCm39)	T350A	probably benign	Het
Socs5	T	C	17: 87,441,623 (GRCm39)	C188R	probably damaging	Het
Tacr1	A	G	6: 82,380,723 (GRCm39)	T45A	probably benign	Het
Th	A	G	7: 142,450,745 (GRCm39)	V117A	probably benign	Het
Thpo	C	A	16: 20,547,206 (GRCm39)	D81Y	probably damaging	Het
Tmem229b-ps	A	G	10: 53,351,385 (GRCm39)		noncoding transcript	Het
Trpc4	A	G	3: 54,223,236 (GRCm39)	E724G	probably benign	Het
Ttn	T	C	2: 76,576,977 (GRCm39)	T24639A	probably damaging	Het
Ulk4	A	G	9: 120,873,904 (GRCm39)	S1176P	probably damaging	Het
Urgcp	T	C	11: 5,667,447 (GRCm39)	D297G	probably damaging	Het
Vmn1r168	G	A	7: 23,240,620 (GRCm39)	G159D	probably damaging	Het
Vmn1r67	A	T	7: 10,181,597 (GRCm39)	N226I	probably benign	Het
Vmn2r27	T	C	6: 124,208,574 (GRCm39)	E57G	probably benign	Het
Zdhhc14	G	T	17: 5,543,831 (GRCm39)	R37L	probably benign	Het
Zfp512b	G	A	2: 181,230,229 (GRCm39)	T499I	probably damaging	Het
Zmym2	A	T	14: 57,158,187 (GRCm39)	K575N	probably benign	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
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
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'- GAGGGTTTCAAAGTACTCACCGGC -3'
(R):5'- CCCAGCACTTGGCATTTGAACG -3'

Sequencing Primer
(F):5'- GTACTCACCGGCCAAAAAAAG -3'
(R):5'- TTATTAACACCTTGGGAAGTTGC -3'

Posted On

2014-04-24