Incidental Mutation 'IGL02313:Mfn2'
ID 287875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mfn2
Ensembl Gene ENSMUSG00000029020
Gene Name mitofusin 2
Synonyms hypertension related protein 1, Fzo, D630023P19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02313
Quality Score
Status
Chromosome 4
Chromosomal Location 147958056-147989161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 147969947 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q80U63
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: 157,653,571 (GRCm39) N136K probably damaging Het
Aph1b A T 9: 66,697,955 (GRCm39) probably benign Het
Atf7ip A G 6: 136,583,718 (GRCm39) K1250E probably damaging Het
Atp8b2 T C 3: 89,857,160 (GRCm39) N400S probably damaging Het
Brca2 C A 5: 150,462,126 (GRCm39) S630Y probably damaging Het
Chd6 T A 2: 160,807,595 (GRCm39) E1873V probably damaging Het
Chrna10 T C 7: 101,761,236 (GRCm39) probably benign Het
Col6a3 A G 1: 90,739,328 (GRCm39) L907P probably damaging Het
Cxcr6 A G 9: 123,639,770 (GRCm39) N264S probably damaging Het
Cyria A G 12: 12,414,752 (GRCm39) T248A possibly damaging Het
Dgkg A G 16: 22,388,980 (GRCm39) probably benign Het
Dpysl2 T G 14: 67,061,839 (GRCm39) M256L probably benign Het
Dsp G T 13: 38,380,499 (GRCm39) E1816* probably null Het
Fam13b T C 18: 34,587,709 (GRCm39) K530E probably damaging Het
Fastk T C 5: 24,648,090 (GRCm39) H242R probably damaging Het
Fbxw28 A T 9: 109,166,420 (GRCm39) H145Q possibly damaging Het
Heatr6 T C 11: 83,669,718 (GRCm39) L910P probably damaging Het
Hmcn2 A G 2: 31,343,617 (GRCm39) T4642A possibly damaging Het
Hspg2 A G 4: 137,235,700 (GRCm39) T167A probably benign Het
Igsf10 A G 3: 59,238,111 (GRCm39) L690P probably benign Het
Klhdc10 G A 6: 30,439,865 (GRCm39) probably null Het
Krt31 A G 11: 99,939,222 (GRCm39) Y232H probably damaging Het
Lsm3 A G 6: 91,493,070 (GRCm39) probably benign Het
Mfrp A T 9: 44,014,171 (GRCm39) I180F probably damaging Het
Msh3 T C 13: 92,485,820 (GRCm39) E168G possibly damaging Het
Naa16 A T 14: 79,622,108 (GRCm39) V77D probably damaging Het
Nav2 T C 7: 49,208,521 (GRCm39) S1570P probably damaging Het
Niban3 A G 8: 72,055,504 (GRCm39) R305G possibly damaging Het
Numa1 C T 7: 101,649,439 (GRCm39) R1057* probably null Het
Nup210l G A 3: 90,030,099 (GRCm39) A271T probably damaging Het
Ogdh T C 11: 6,305,400 (GRCm39) V965A probably damaging Het
Or10h28 C A 17: 33,488,639 (GRCm39) Q314K probably benign Het
Or4m1 A T 14: 50,557,473 (GRCm39) V273E probably damaging Het
Or6c219 A G 10: 129,781,772 (GRCm39) L53P probably damaging Het
Or7g21 A T 9: 19,032,671 (GRCm39) N140I probably damaging Het
Or8b51 T A 9: 38,569,362 (GRCm39) I109F probably damaging Het
Pdp2 A T 8: 105,321,531 (GRCm39) Q460L probably benign Het
Pex5l T C 3: 33,047,141 (GRCm39) T270A probably benign Het
Pkp4 C T 2: 59,140,598 (GRCm39) Q435* probably null Het
Prss32 G A 17: 24,075,096 (GRCm39) V149M probably benign Het
Riox2 C A 16: 59,309,780 (GRCm39) P378Q probably benign Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Rsph4a T A 10: 33,781,521 (GRCm39) S124T possibly damaging Het
Sdccag8 G A 1: 176,652,321 (GRCm39) R24H possibly damaging Het
Slc22a1 C A 17: 12,894,387 (GRCm39) G54* probably null Het
Slc24a5 C T 2: 124,927,567 (GRCm39) probably benign Het
Tex101 C T 7: 24,367,750 (GRCm39) V201M probably damaging Het
Tmprss7 T C 16: 45,501,956 (GRCm39) Y223C probably damaging Het
Trpc4ap T C 2: 155,492,388 (GRCm39) E382G probably damaging Het
Uggt1 A T 1: 36,223,565 (GRCm39) Y575N probably damaging Het
Vmn2r70 T C 7: 85,214,376 (GRCm39) I259V probably damaging Het
Xpo1 T A 11: 23,227,065 (GRCm39) N131K probably damaging Het
Zfp579 C T 7: 4,997,432 (GRCm39) V160M probably benign Het
Zfp697 A G 3: 98,332,766 (GRCm39) D64G probably benign Het
Zfp974 T C 7: 27,611,678 (GRCm39) T16A possibly damaging Het
Other mutations in Mfn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16