Incidental Mutation 'IGL02472:Dnm2'
ID 294761
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnm2
Ensembl Gene ENSMUSG00000033335
Gene Name dynamin 2
Synonyms b2b2159Clo, Dyn2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02472
Quality Score
Status
Chromosome 9
Chromosomal Location 21336204-21419055 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21397004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 494 (I494V)
Ref Sequence ENSEMBL: ENSMUSP00000111063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072362] [ENSMUST00000091087] [ENSMUST00000115404] [ENSMUST00000165766] [ENSMUST00000172482] [ENSMUST00000173397]
AlphaFold P39054
Predicted Effect probably benign
Transcript: ENSMUST00000072362
AA Change: I494V

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072199
Gene: ENSMUSG00000033335
AA Change: I494V

DomainStartEndE-ValueType
DYNc 6 245 1.01e-193 SMART
low complexity region 298 313 N/A INTRINSIC
PH 520 627 8e-13 SMART
GED 648 739 2.57e-28 SMART
low complexity region 740 752 N/A INTRINSIC
low complexity region 777 799 N/A INTRINSIC
low complexity region 831 864 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091087
AA Change: I494V

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000088616
Gene: ENSMUSG00000033335
AA Change: I494V

DomainStartEndE-ValueType
DYNc 6 245 1.01e-193 SMART
low complexity region 298 313 N/A INTRINSIC
PH 516 623 8e-13 SMART
GED 644 735 2.57e-28 SMART
low complexity region 736 748 N/A INTRINSIC
low complexity region 773 795 N/A INTRINSIC
low complexity region 827 860 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115404
AA Change: I494V

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111063
Gene: ENSMUSG00000033335
AA Change: I494V

DomainStartEndE-ValueType
DYNc 6 245 1.01e-193 SMART
low complexity region 298 313 N/A INTRINSIC
PH 520 627 8e-13 SMART
GED 648 739 2.57e-28 SMART
low complexity region 740 752 N/A INTRINSIC
low complexity region 777 799 N/A INTRINSIC
low complexity region 831 864 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165766
AA Change: I494V

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000128961
Gene: ENSMUSG00000033335
AA Change: I494V

DomainStartEndE-ValueType
DYNc 6 245 1.01e-193 SMART
low complexity region 298 313 N/A INTRINSIC
PH 520 627 8e-13 SMART
GED 648 739 2.57e-28 SMART
low complexity region 740 752 N/A INTRINSIC
low complexity region 777 799 N/A INTRINSIC
low complexity region 831 858 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169194
Predicted Effect probably benign
Transcript: ENSMUST00000172482
AA Change: I494V

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133564
Gene: ENSMUSG00000033335
AA Change: I494V

DomainStartEndE-ValueType
DYNc 6 245 1.01e-193 SMART
low complexity region 298 313 N/A INTRINSIC
PH 520 627 8e-13 SMART
GED 648 739 2.57e-28 SMART
low complexity region 740 752 N/A INTRINSIC
low complexity region 777 799 N/A INTRINSIC
low complexity region 831 864 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173397
AA Change: I494V

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134243
Gene: ENSMUSG00000033335
AA Change: I494V

DomainStartEndE-ValueType
DYNc 6 245 1.01e-193 SMART
low complexity region 298 313 N/A INTRINSIC
PH 520 627 8e-13 SMART
GED 648 739 2.57e-28 SMART
low complexity region 740 752 N/A INTRINSIC
low complexity region 777 799 N/A INTRINSIC
low complexity region 831 863 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000172833
AA Change: I156V
SMART Domains Protein: ENSMUSP00000133858
Gene: ENSMUSG00000033335
AA Change: I156V

DomainStartEndE-ValueType
Pfam:Dynamin_M 1 163 2.4e-55 PFAM
Pfam:PH 193 248 2.6e-7 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000174050
AA Change: I444V
SMART Domains Protein: ENSMUSP00000134696
Gene: ENSMUSG00000033335
AA Change: I444V

DomainStartEndE-ValueType
DYNc 1 196 8.6e-138 SMART
low complexity region 249 264 N/A INTRINSIC
PH 467 574 8e-13 SMART
GED 595 686 2.57e-28 SMART
low complexity region 687 699 N/A INTRINSIC
low complexity region 724 746 N/A INTRINSIC
low complexity region 778 805 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172763
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a targeted allele die prior to E8-E12. Mice heterozygous for a knock-out allele exhibit muscle atrophy and weakness, intermyofibrillar disorganization, and centrally localized mitochondria and sarcoplasmic reticulum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Atp8b2 G A 3: 89,861,546 (GRCm39) T267I probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Eif2ak1 A G 5: 143,821,701 (GRCm39) H339R probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Inpp5j T C 11: 3,445,338 (GRCm39) probably benign Het
Ipo7 T A 7: 109,640,060 (GRCm39) F288I probably damaging Het
Kcnv1 T A 15: 44,972,519 (GRCm39) K455* probably null Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Or5v1b C A 17: 37,841,640 (GRCm39) F257L probably damaging Het
Plch1 A T 3: 63,609,270 (GRCm39) L65Q probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ppp3ca A G 3: 136,627,623 (GRCm39) I396V possibly damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Sema3f C T 9: 107,564,935 (GRCm39) E307K probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,832 (GRCm39) K342N possibly damaging Het
Slc2a12 T C 10: 22,541,054 (GRCm39) F303S probably damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tm6sf1 A T 7: 81,525,572 (GRCm39) probably benign Het
Tmem245 T C 4: 56,899,119 (GRCm39) Y269C probably damaging Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Dnm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01446:Dnm2 APN 9 21,392,672 (GRCm39) missense probably damaging 1.00
IGL01757:Dnm2 APN 9 21,376,915 (GRCm39) missense probably damaging 1.00
IGL02142:Dnm2 APN 9 21,411,649 (GRCm39) missense probably damaging 1.00
IGL02195:Dnm2 APN 9 21,336,545 (GRCm39) missense probably damaging 1.00
IGL03161:Dnm2 APN 9 21,397,020 (GRCm39) splice site probably benign
IGL03392:Dnm2 APN 9 21,385,907 (GRCm39) missense probably damaging 1.00
R0302:Dnm2 UTSW 9 21,411,639 (GRCm39) missense probably benign 0.27
R0743:Dnm2 UTSW 9 21,411,561 (GRCm39) missense probably damaging 1.00
R0945:Dnm2 UTSW 9 21,416,956 (GRCm39) missense probably damaging 0.97
R1629:Dnm2 UTSW 9 21,415,754 (GRCm39) missense probably damaging 1.00
R1678:Dnm2 UTSW 9 21,378,828 (GRCm39) missense possibly damaging 0.89
R1848:Dnm2 UTSW 9 21,416,977 (GRCm39) missense possibly damaging 0.87
R2084:Dnm2 UTSW 9 21,411,667 (GRCm39) critical splice donor site probably null
R2214:Dnm2 UTSW 9 21,397,019 (GRCm39) critical splice donor site probably null
R2346:Dnm2 UTSW 9 21,378,852 (GRCm39) missense probably damaging 1.00
R3711:Dnm2 UTSW 9 21,417,669 (GRCm39) unclassified probably benign
R3796:Dnm2 UTSW 9 21,416,783 (GRCm39) missense probably benign
R4017:Dnm2 UTSW 9 21,405,900 (GRCm39) missense probably damaging 1.00
R4432:Dnm2 UTSW 9 21,402,600 (GRCm39) intron probably benign
R4583:Dnm2 UTSW 9 21,415,742 (GRCm39) missense probably damaging 1.00
R4604:Dnm2 UTSW 9 21,415,960 (GRCm39) critical splice donor site probably null
R4735:Dnm2 UTSW 9 21,385,883 (GRCm39) missense probably damaging 0.99
R4803:Dnm2 UTSW 9 21,385,925 (GRCm39) missense probably damaging 1.00
R4832:Dnm2 UTSW 9 21,385,975 (GRCm39) splice site probably null
R4836:Dnm2 UTSW 9 21,402,626 (GRCm39) intron probably benign
R4937:Dnm2 UTSW 9 21,392,633 (GRCm39) missense probably benign 0.00
R4948:Dnm2 UTSW 9 21,415,829 (GRCm39) missense possibly damaging 0.90
R5059:Dnm2 UTSW 9 21,415,874 (GRCm39) missense probably damaging 1.00
R5291:Dnm2 UTSW 9 21,390,203 (GRCm39) missense probably damaging 1.00
R5538:Dnm2 UTSW 9 21,416,923 (GRCm39) missense probably benign 0.05
R5613:Dnm2 UTSW 9 21,383,963 (GRCm39) missense probably damaging 1.00
R5805:Dnm2 UTSW 9 21,378,965 (GRCm39) missense probably damaging 0.97
R6253:Dnm2 UTSW 9 21,411,571 (GRCm39) missense probably damaging 1.00
R6586:Dnm2 UTSW 9 21,416,942 (GRCm39) missense probably benign 0.32
R6826:Dnm2 UTSW 9 21,415,767 (GRCm39) nonsense probably null
R6855:Dnm2 UTSW 9 21,387,881 (GRCm39) missense probably damaging 1.00
R7121:Dnm2 UTSW 9 21,385,862 (GRCm39) missense probably benign 0.31
R7307:Dnm2 UTSW 9 21,396,983 (GRCm39) missense probably damaging 1.00
R7318:Dnm2 UTSW 9 21,416,863 (GRCm39) missense possibly damaging 0.46
R7467:Dnm2 UTSW 9 21,392,672 (GRCm39) missense probably damaging 1.00
R7619:Dnm2 UTSW 9 21,416,930 (GRCm39) missense probably benign 0.00
R7673:Dnm2 UTSW 9 21,392,717 (GRCm39) critical splice donor site probably null
R8474:Dnm2 UTSW 9 21,377,016 (GRCm39) missense probably damaging 1.00
R9275:Dnm2 UTSW 9 21,416,977 (GRCm39) missense possibly damaging 0.87
R9278:Dnm2 UTSW 9 21,416,977 (GRCm39) missense possibly damaging 0.87
R9383:Dnm2 UTSW 9 21,383,920 (GRCm39) missense probably damaging 1.00
R9610:Dnm2 UTSW 9 21,414,973 (GRCm39) nonsense probably null
Posted On 2015-04-16