Incidental Mutation 'IGL02313:Mfn2'
ID287875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfn2
Ensembl Gene ENSMUSG00000029020
Gene Namemitofusin 2
Synonymshypertension related protein 1, D630023P19Rik, Fzo
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02313
Quality Score
Status
Chromosome4
Chromosomal Location147873599-147904704 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 147885490 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 375 (I375F)
Ref Sequence ENSEMBL: ENSMUSP00000101341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030884] [ENSMUST00000105714] [ENSMUST00000105715] [ENSMUST00000105716] [ENSMUST00000134172]
Predicted Effect probably damaging
Transcript: ENSMUST00000030884
AA Change: I375F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030884
Gene: ENSMUSG00000029020
AA Change: I375F

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000105714
AA Change: I375F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101339
Gene: ENSMUSG00000029020
AA Change: I375F

DomainStartEndE-ValueType
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: I375F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101340
Gene: ENSMUSG00000029020
AA Change: I375F

DomainStartEndE-ValueType
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: I375F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101341
Gene: ENSMUSG00000029020
AA Change: I375F

DomainStartEndE-ValueType
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: ENSMUST00000124646
Predicted Effect probably benign
Transcript: ENSMUST00000134172
SMART Domains Protein: ENSMUSP00000123021
Gene: ENSMUSG00000029020

DomainStartEndE-ValueType
Pfam:Dynamin_N 99 208 5.1e-16 PFAM
Coding Region Coverage
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13c T A 3: 157,947,934 N136K probably damaging Het
Aph1b A T 9: 66,790,673 probably benign Het
Atf7ip A G 6: 136,606,720 K1250E probably damaging Het
Atp8b2 T C 3: 89,949,853 N400S probably damaging Het
Brca2 C A 5: 150,538,661 S630Y probably damaging Het
Chd6 T A 2: 160,965,675 E1873V probably damaging Het
Chrna10 T C 7: 102,112,029 probably benign Het
Col6a3 A G 1: 90,811,606 L907P probably damaging Het
Cxcr6 A G 9: 123,810,705 N264S probably damaging Het
Dgkg A G 16: 22,570,230 probably benign Het
Dpysl2 T G 14: 66,824,390 M256L probably benign Het
Dsp G T 13: 38,196,523 E1816* probably null Het
Fam129c A G 8: 71,602,860 R305G possibly damaging Het
Fam13b T C 18: 34,454,656 K530E probably damaging Het
Fam49a A G 12: 12,364,751 T248A possibly damaging Het
Fastk T C 5: 24,443,092 H242R probably damaging Het
Fbxw28 A T 9: 109,337,352 H145Q possibly damaging Het
Heatr6 T C 11: 83,778,892 L910P probably damaging Het
Hmcn2 A G 2: 31,453,605 T4642A possibly damaging Het
Hspg2 A G 4: 137,508,389 T167A probably benign Het
Igsf10 A G 3: 59,330,690 L690P probably benign Het
Klhdc10 G A 6: 30,439,866 probably null Het
Krt31 A G 11: 100,048,396 Y232H probably damaging Het
Lsm3 A G 6: 91,516,088 probably benign Het
Mfrp A T 9: 44,102,874 I180F probably damaging Het
Msh3 T C 13: 92,349,312 E168G possibly damaging Het
Naa16 A T 14: 79,384,668 V77D probably damaging Het
Nav2 T C 7: 49,558,773 S1570P probably damaging Het
Numa1 C T 7: 102,000,232 R1057* probably null Het
Nup210l G A 3: 90,122,792 A271T probably damaging Het
Ogdh T C 11: 6,355,400 V965A probably damaging Het
Olfr63 C A 17: 33,269,665 Q314K probably benign Het
Olfr734 A T 14: 50,320,016 V273E probably damaging Het
Olfr818 A G 10: 129,945,903 L53P probably damaging Het
Olfr836 A T 9: 19,121,375 N140I probably damaging Het
Olfr916 T A 9: 38,658,066 I109F probably damaging Het
Pdp2 A T 8: 104,594,899 Q460L probably benign Het
Pex5l T C 3: 32,992,992 T270A probably benign Het
Pkp4 C T 2: 59,310,254 Q435* probably null Het
Prss32 G A 17: 23,856,122 V149M probably benign Het
Riox2 C A 16: 59,489,417 P378Q probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rsph4a T A 10: 33,905,525 S124T possibly damaging Het
Sdccag8 G A 1: 176,824,755 R24H possibly damaging Het
Slc22a1 C A 17: 12,675,500 G54* probably null Het
Slc24a5 C T 2: 125,085,647 probably benign Het
Tex101 C T 7: 24,668,325 V201M probably damaging Het
Tmprss7 T C 16: 45,681,593 Y223C probably damaging Het
Trpc4ap T C 2: 155,650,468 E382G probably damaging Het
Uggt1 A T 1: 36,184,484 Y575N probably damaging Het
Vmn2r70 T C 7: 85,565,168 I259V probably damaging Het
Xpo1 T A 11: 23,277,065 N131K probably damaging Het
Zfp579 C T 7: 4,994,433 V160M probably benign Het
Zfp697 A G 3: 98,425,450 D64G probably benign Het
Zfp974 T C 7: 27,912,253 T16A possibly damaging Het
Other mutations in Mfn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03236:Mfn2 APN 4 147882105 missense probably damaging 1.00
milkshake UTSW 4 147887452 missense probably benign 0.12
R0066:Mfn2 UTSW 4 147885445 unclassified probably benign
R0066:Mfn2 UTSW 4 147885445 unclassified probably benign
R0326:Mfn2 UTSW 4 147883288 missense probably damaging 1.00
R0376:Mfn2 UTSW 4 147885526 missense probably benign 0.24
R0564:Mfn2 UTSW 4 147883255 missense probably damaging 1.00
R0962:Mfn2 UTSW 4 147882201 missense probably benign
R1595:Mfn2 UTSW 4 147894696 missense probably benign 0.08
R2105:Mfn2 UTSW 4 147888705 nonsense probably null
R2260:Mfn2 UTSW 4 147894606 nonsense probably null
R4544:Mfn2 UTSW 4 147887452 missense probably benign 0.12
R4546:Mfn2 UTSW 4 147887452 missense probably benign 0.12
R4561:Mfn2 UTSW 4 147877035 missense probably damaging 1.00
R5151:Mfn2 UTSW 4 147886328 missense probably benign 0.10
R5355:Mfn2 UTSW 4 147894578 missense probably damaging 1.00
R6645:Mfn2 UTSW 4 147894612 missense probably damaging 1.00
Posted On2015-04-16