Incidental Mutation 'IGL03161:Dnm2'
ID411434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnm2
Ensembl Gene ENSMUSG00000033335
Gene Namedynamin 2
Synonymsb2b2159Clo, Dyn2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03161
Quality Score
Status
Chromosome9
Chromosomal Location21424908-21507759 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 21485724 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000072362] [ENSMUST00000091087] [ENSMUST00000115404] [ENSMUST00000165766] [ENSMUST00000172482] [ENSMUST00000173397]
Predicted Effect probably benign
Transcript: ENSMUST00000072362
SMART Domains Protein: ENSMUSP00000072199
Gene: ENSMUSG00000033335

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
SMART Domains Protein: ENSMUSP00000088616
Gene: ENSMUSG00000033335

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 probably benign
Transcript: ENSMUST00000115404
SMART Domains Protein: ENSMUSP00000111063
Gene: ENSMUSG00000033335

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
SMART Domains Protein: ENSMUSP00000128961
Gene: ENSMUSG00000033335

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
SMART Domains Protein: ENSMUSP00000133564
Gene: ENSMUSG00000033335

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 noncoding transcript
Transcript: ENSMUST00000172763
Predicted Effect probably benign
Transcript: ENSMUST00000172833
SMART Domains Protein: ENSMUSP00000133858
Gene: ENSMUSG00000033335

DomainStartEndE-ValueType
Pfam:Dynamin_M 1 163 2.4e-55 PFAM
Pfam:PH 193 248 2.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173397
SMART Domains Protein: ENSMUSP00000134243
Gene: ENSMUSG00000033335

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 probably benign
Transcript: ENSMUST00000174050
SMART Domains Protein: ENSMUSP00000134696
Gene: ENSMUSG00000033335

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
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210010C04Rik A T 6: 41,034,306 H47Q probably damaging Het
4930579G24Rik T C 3: 79,629,186 probably benign Het
Abtb2 G T 2: 103,567,454 R243L probably benign Het
Adamts12 A G 15: 11,292,082 E871G possibly damaging Het
Ascc3 A T 10: 50,618,072 N201I probably damaging Het
Aste1 A T 9: 105,396,672 H37L probably damaging Het
Atp1a2 T A 1: 172,278,862 probably benign Het
Cand2 C A 6: 115,792,737 T836K probably benign Het
Ccdc151 A G 9: 22,002,315 S54P probably benign Het
Dnah7c G A 1: 46,467,296 A178T probably benign Het
Dock3 T C 9: 107,023,788 D326G probably damaging Het
Fignl1 A C 11: 11,802,680 M125R probably benign Het
Gabarapl2 T A 8: 111,942,536 V42D probably benign Het
Hivep2 T C 10: 14,143,356 V1957A probably damaging Het
Hps1 T C 19: 42,767,271 E172G probably damaging Het
Il16 T C 7: 83,722,499 D33G probably damaging Het
Lamb1 A G 12: 31,326,256 N1542D probably benign Het
Mllt6 T C 11: 97,667,151 Y179H probably benign Het
Muc4 T C 16: 32,751,948 S609P possibly damaging Het
Nacad G A 11: 6,600,378 Q938* probably null Het
Olfr1184 G A 2: 88,487,448 A239T probably benign Het
Olfr1295 T C 2: 111,565,331 I38V possibly damaging Het
Pik3c3 C T 18: 30,293,707 T292I probably benign Het
Slit3 T C 11: 35,700,414 V1351A probably benign Het
Spg7 T C 8: 123,087,331 M443T probably damaging Het
Tcof1 A G 18: 60,833,488 S344P possibly damaging Het
Tex37 T C 6: 70,913,535 E91G probably benign Het
Tm4sf5 T A 11: 70,510,272 S105T probably benign Het
Tmem119 A G 5: 113,794,900 V280A possibly damaging Het
Trbv20 A T 6: 41,188,823 I61L probably benign Het
Trip12 T C 1: 84,761,132 probably benign Het
Vmn1r32 T A 6: 66,553,220 M191L possibly damaging Het
Vta1 A T 10: 14,667,972 H219Q possibly damaging Het
Other mutations in Dnm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01446:Dnm2 APN 9 21481376 missense probably damaging 1.00
IGL01757:Dnm2 APN 9 21465619 missense probably damaging 1.00
IGL02142:Dnm2 APN 9 21500353 missense probably damaging 1.00
IGL02195:Dnm2 APN 9 21425249 missense probably damaging 1.00
IGL02472:Dnm2 APN 9 21485708 missense possibly damaging 0.55
IGL03392:Dnm2 APN 9 21474611 missense probably damaging 1.00
R0302:Dnm2 UTSW 9 21500343 missense probably benign 0.27
R0743:Dnm2 UTSW 9 21500265 missense probably damaging 1.00
R0945:Dnm2 UTSW 9 21505660 missense probably damaging 0.97
R1629:Dnm2 UTSW 9 21504458 missense probably damaging 1.00
R1678:Dnm2 UTSW 9 21467532 missense possibly damaging 0.89
R1848:Dnm2 UTSW 9 21505681 missense possibly damaging 0.87
R2084:Dnm2 UTSW 9 21500371 critical splice donor site probably null
R2214:Dnm2 UTSW 9 21485723 critical splice donor site probably null
R2346:Dnm2 UTSW 9 21467556 missense probably damaging 1.00
R3711:Dnm2 UTSW 9 21506373 unclassified probably benign
R3796:Dnm2 UTSW 9 21505487 missense probably benign
R4017:Dnm2 UTSW 9 21494604 missense probably damaging 1.00
R4432:Dnm2 UTSW 9 21491304 intron probably benign
R4583:Dnm2 UTSW 9 21504446 missense probably damaging 1.00
R4604:Dnm2 UTSW 9 21504664 critical splice donor site probably null
R4735:Dnm2 UTSW 9 21474587 missense probably damaging 0.99
R4803:Dnm2 UTSW 9 21474629 missense probably damaging 1.00
R4832:Dnm2 UTSW 9 21474679 splice site probably null
R4836:Dnm2 UTSW 9 21491330 intron probably benign
R4937:Dnm2 UTSW 9 21481337 missense probably benign 0.00
R4948:Dnm2 UTSW 9 21504533 missense possibly damaging 0.90
R5059:Dnm2 UTSW 9 21504578 missense probably damaging 1.00
R5291:Dnm2 UTSW 9 21478907 missense probably damaging 1.00
R5538:Dnm2 UTSW 9 21505627 missense probably benign 0.05
R5613:Dnm2 UTSW 9 21472667 missense probably damaging 1.00
R5805:Dnm2 UTSW 9 21467669 missense probably damaging 0.97
R6253:Dnm2 UTSW 9 21500275 missense probably damaging 1.00
R6586:Dnm2 UTSW 9 21505646 missense probably benign 0.32
R6826:Dnm2 UTSW 9 21504471 nonsense probably null
R6855:Dnm2 UTSW 9 21476585 missense probably damaging 1.00
R7121:Dnm2 UTSW 9 21474566 missense probably benign 0.31
R7307:Dnm2 UTSW 9 21485687 missense probably damaging 1.00
R7318:Dnm2 UTSW 9 21505567 missense possibly damaging 0.46
R7467:Dnm2 UTSW 9 21481376 missense probably damaging 1.00
R7619:Dnm2 UTSW 9 21505634 missense probably benign 0.00
R7673:Dnm2 UTSW 9 21481421 critical splice donor site probably null
R8474:Dnm2 UTSW 9 21465720 missense probably damaging 1.00
Posted On2016-08-02