Incidental Mutation 'R0376:Mfn2'
ID 30740
Institutional Source Beutler Lab
Gene Symbol Mfn2
Ensembl Gene ENSMUSG00000029020
Gene Name mitofusin 2
Synonyms hypertension related protein 1, Fzo, D630023P19Rik
MMRRC Submission 038582-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0376 (G1)
Quality Score 192
Status Validated
Chromosome 4
Chromosomal Location 147958056-147989161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 147969983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 363 (V363I)
Ref Sequence ENSEMBL: ENSMUSP00000101341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030884] [ENSMUST00000105714] [ENSMUST00000105715] [ENSMUST00000105716] [ENSMUST00000134172]
AlphaFold Q80U63
Predicted Effect probably benign
Transcript: ENSMUST00000030884
AA Change: V363I

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030884
Gene: ENSMUSG00000029020
AA Change: V363I

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 benign
Transcript: ENSMUST00000105714
AA Change: V363I

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101339
Gene: ENSMUSG00000029020
AA Change: V363I

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 benign
Transcript: ENSMUST00000105715
AA Change: V363I

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101340
Gene: ENSMUSG00000029020
AA Change: V363I

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 benign
Transcript: ENSMUST00000105716
AA Change: V363I

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101341
Gene: ENSMUSG00000029020
AA Change: V363I

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
Meta Mutation Damage Score 0.0754 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.0%
Validation Efficiency 100% (58/58)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a T C 12: 113,508,310 (GRCm39) Y228H probably damaging Het
Als2 A G 1: 59,254,724 (GRCm39) F211S probably benign Het
Ankrd12 T A 17: 66,360,004 (GRCm39) Q11L probably damaging Het
Anxa5 T C 3: 36,514,637 (GRCm39) R115G probably damaging Het
Arhgap10 T C 8: 78,177,453 (GRCm39) probably benign Het
Atp2a3 T A 11: 72,873,528 (GRCm39) D782E probably damaging Het
Bcr G T 10: 74,981,159 (GRCm39) L659F probably damaging Het
Cacna1b A G 2: 24,549,015 (GRCm39) probably benign Het
Camp C T 9: 109,677,467 (GRCm39) C122Y probably damaging Het
Cimip1 G A 2: 173,370,120 (GRCm39) E132K probably benign Het
Col12a1 A T 9: 79,600,776 (GRCm39) S769R probably benign Het
Cyp2j6 T A 4: 96,414,260 (GRCm39) K335I probably damaging Het
Cyp3a11 A C 5: 145,799,262 (GRCm39) Y308* probably null Het
Flnb G A 14: 7,946,014 (GRCm38) probably null Het
Frmd4a G T 2: 4,577,198 (GRCm39) M351I probably damaging Het
Gabrg2 C T 11: 41,807,142 (GRCm39) S365N possibly damaging Het
Ggn T C 7: 28,872,447 (GRCm39) V609A possibly damaging Het
H60c T C 10: 3,210,435 (GRCm39) probably benign Het
Hexd T A 11: 121,108,991 (GRCm39) probably benign Het
Igsf9b A G 9: 27,245,878 (GRCm39) T1282A probably benign Het
Ikzf4 T C 10: 128,468,625 (GRCm39) N618S probably benign Het
Ints14 A G 9: 64,891,272 (GRCm39) K418E probably damaging Het
Iqgap1 T C 7: 80,373,627 (GRCm39) E1454G probably benign Het
Kif13b T C 14: 64,994,853 (GRCm39) probably benign Het
Krt71 A C 15: 101,646,505 (GRCm39) F328C probably damaging Het
Lama2 T C 10: 26,891,542 (GRCm39) T2524A possibly damaging Het
Mkln1 A T 6: 31,454,953 (GRCm39) D496V probably benign Het
Or2q1 A T 6: 42,795,226 (GRCm39) M274L probably benign Het
Patj T A 4: 98,457,224 (GRCm39) I1242N probably damaging Het
Pcnx1 C T 12: 82,021,353 (GRCm39) probably benign Het
Plcb2 T C 2: 118,547,721 (GRCm39) E502G probably damaging Het
Plppr4 G T 3: 117,116,740 (GRCm39) H314Q probably benign Het
Prkcsh A G 9: 21,921,547 (GRCm39) probably benign Het
Prr14 C T 7: 127,075,815 (GRCm39) H181Y probably benign Het
Pus3 A T 9: 35,477,718 (GRCm39) M317L possibly damaging Het
Pwwp2a T A 11: 43,595,499 (GRCm39) D221E probably benign Het
Rbm15 T C 3: 107,238,254 (GRCm39) S715G probably benign Het
Rbm28 A G 6: 29,158,927 (GRCm39) probably benign Het
Rhobtb2 A T 14: 70,034,184 (GRCm39) V347E probably benign Het
Rimbp2 C T 5: 128,880,925 (GRCm39) R161Q probably damaging Het
Scgb1b27 C T 7: 33,721,322 (GRCm39) T70I possibly damaging Het
Slc40a1 T C 1: 45,951,651 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spaca9 A G 2: 28,583,672 (GRCm39) V104A probably benign Het
Spag7 T C 11: 70,560,016 (GRCm39) probably benign Het
Sugp1 A G 8: 70,505,288 (GRCm39) D85G probably damaging Het
Sun1 A G 5: 139,212,454 (GRCm39) probably benign Het
Tcp11l1 C A 2: 104,527,850 (GRCm39) probably benign Het
Tead3 A C 17: 28,560,339 (GRCm39) D88E probably damaging Het
Tecpr1 A T 5: 144,144,294 (GRCm39) V636E possibly damaging Het
Tldc2 T C 2: 156,937,225 (GRCm39) W147R probably damaging Het
Tmem161b A G 13: 84,440,502 (GRCm39) T125A probably benign Het
Trrap A G 5: 144,753,149 (GRCm39) M1825V probably benign Het
Ttbk2 A G 2: 120,608,062 (GRCm39) F186L probably damaging Het
U2surp C T 9: 95,366,496 (GRCm39) V470I probably benign Het
Zc3h7a T C 16: 10,974,066 (GRCm39) M240V probably benign Het
Zc3hc1 G C 6: 30,372,789 (GRCm39) S351W probably damaging Het
Zfp366 T C 13: 99,370,759 (GRCm39) M493T probably benign Het
Zfp93 C T 7: 23,975,286 (GRCm39) P424S probably damaging Het
Other mutations in Mfn2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CAACAAGGAGCCTGCCTTACTGTG -3'
(R):5'- AGTTTCCTCATCAGCACTGCCG -3'

Sequencing Primer
(F):5'- GATGAGACACCAGATGGCCC -3'
(R):5'- ATCAGCACTGCCGTTCTC -3'
Posted On 2013-04-24