Incidental Mutation 'R5538:Dnm2'
ID 434938
Institutional Source Beutler Lab
Gene Symbol Dnm2
Ensembl Gene ENSMUSG00000033335
Gene Name dynamin 2
Synonyms b2b2159Clo, Dyn2
MMRRC Submission 043096-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5538 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 21336204-21419055 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21416923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 819 (F819L)
Ref Sequence ENSEMBL: ENSMUSP00000134243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034698] [ENSMUST00000072362] [ENSMUST00000091087] [ENSMUST00000115404] [ENSMUST00000165766] [ENSMUST00000172482] [ENSMUST00000173397] [ENSMUST00000214576] [ENSMUST00000214285]
AlphaFold P39054
Predicted Effect probably benign
Transcript: ENSMUST00000034698
SMART Domains Protein: ENSMUSP00000034698
Gene: ENSMUSG00000032180

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
EMP24_GP25L 33 220 1.78e-54 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000072362
AA Change: F819L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000072199
Gene: ENSMUSG00000033335
AA Change: F819L

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: F815L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000088616
Gene: ENSMUSG00000033335
AA Change: F815L

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
AA Change: F819L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000111063
Gene: ENSMUSG00000033335
AA Change: F819L

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: F819L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000128961
Gene: ENSMUSG00000033335
AA Change: F819L

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 probably benign
Transcript: ENSMUST00000172482
AA Change: F819L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000133564
Gene: ENSMUSG00000033335
AA Change: F819L

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 noncoding transcript
Transcript: ENSMUST00000174243
Predicted Effect probably benign
Transcript: ENSMUST00000173397
AA Change: F819L

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000134243
Gene: ENSMUSG00000033335
AA Change: F819L

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: ENSMUST00000174050
AA Change: F765L
SMART Domains Protein: ENSMUSP00000134696
Gene: ENSMUSG00000033335
AA Change: F765L

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: ENSMUST00000173299
Predicted Effect probably benign
Transcript: ENSMUST00000214576
Predicted Effect probably benign
Transcript: ENSMUST00000213167
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213316
Predicted Effect probably benign
Transcript: ENSMUST00000214285
Meta Mutation Damage Score 0.0661 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 94% (73/78)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C A 13: 81,581,808 (GRCm39) R4745S probably benign Het
Ank3 A G 10: 69,823,257 (GRCm39) E642G probably damaging Het
Arhgap11a G T 2: 113,667,875 (GRCm39) D375E probably benign Het
Arl8b C A 6: 108,760,297 (GRCm39) L28M probably damaging Het
Bbs2 G A 8: 94,816,391 (GRCm39) T157M probably damaging Het
C2cd3 T A 7: 100,104,700 (GRCm39) probably null Het
C6 T A 15: 4,844,311 (GRCm39) I911N possibly damaging Het
Cc2d2a T C 5: 43,852,518 (GRCm39) I365T possibly damaging Het
Cd46 T G 1: 194,750,478 (GRCm39) probably null Het
Ceacam3 A T 7: 16,892,346 (GRCm39) D363V probably damaging Het
Cep63 A T 9: 102,465,992 (GRCm39) L678* probably null Het
Clasrp A C 7: 19,318,707 (GRCm39) probably benign Het
Clk2 T A 3: 89,082,962 (GRCm39) Y412N probably damaging Het
Col24a1 C T 3: 144,998,882 (GRCm39) A5V probably damaging Het
Cox16 T C 12: 81,531,703 (GRCm39) N13D possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dhx32 A T 7: 133,324,946 (GRCm39) M437K probably benign Het
Dpysl4 A G 7: 138,671,906 (GRCm39) T85A probably benign Het
Dspp A T 5: 104,323,096 (GRCm39) K80* probably null Het
Dync2h1 T C 9: 7,168,630 (GRCm39) probably benign Het
Ern1 A G 11: 106,312,727 (GRCm39) V218A possibly damaging Het
Fbn2 G A 18: 58,204,973 (GRCm39) R1157C probably benign Het
Fez1 T A 9: 36,780,172 (GRCm39) I323N probably damaging Het
Fmo9 T A 1: 166,501,198 (GRCm39) T199S probably benign Het
Fry T A 5: 150,419,313 (GRCm39) L915Q probably damaging Het
Gatd1 A G 7: 140,986,758 (GRCm39) probably benign Het
Gm10719 T C 9: 3,018,962 (GRCm39) L69S probably benign Het
Gnpda2 A T 5: 69,735,394 (GRCm39) H230Q probably damaging Het
Gramd1c T A 16: 43,802,455 (GRCm39) N652I probably damaging Het
H2-T13 T A 17: 36,392,178 (GRCm39) H178L probably benign Het
Hells T A 19: 38,942,096 (GRCm39) F462Y probably benign Het
Htr7 A G 19: 35,947,235 (GRCm39) F260L probably benign Het
Itsn1 C A 16: 91,580,990 (GRCm39) A23D probably damaging Het
Jak3 A G 8: 72,131,417 (GRCm39) D94G probably benign Het
Kctd16 T A 18: 40,390,319 (GRCm39) Y97* probably null Het
Kif20b A T 19: 34,930,364 (GRCm39) K25* probably null Het
Klf2 T C 8: 73,073,316 (GRCm39) L40P probably damaging Het
Kmt2a A G 9: 44,731,639 (GRCm39) probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lonrf1 T A 8: 36,690,178 (GRCm39) probably null Het
Lrp1b A T 2: 40,587,486 (GRCm39) I154K unknown Het
Mybpc1 T A 10: 88,381,891 (GRCm39) I600L possibly damaging Het
Npnt T C 3: 132,610,724 (GRCm39) N285S probably damaging Het
Or4c12b T A 2: 89,646,964 (GRCm39) F92Y probably damaging Het
Or51h5 A G 7: 102,577,728 (GRCm39) T298A probably damaging Het
Or6c69 T A 10: 129,747,871 (GRCm39) Y92F probably benign Het
Or6n1 T C 1: 173,917,544 (GRCm39) *313R probably null Het
Pcnx1 T C 12: 81,907,183 (GRCm39) V13A probably damaging Het
Phkb G A 8: 86,648,756 (GRCm39) V191I possibly damaging Het
Pnpla6 A G 8: 3,581,508 (GRCm39) M594V probably benign Het
Potefam3e A C 8: 19,799,430 (GRCm39) probably null Het
Prkdc A G 16: 15,469,333 (GRCm39) E146G probably damaging Het
Ror1 T C 4: 100,298,208 (GRCm39) M527T probably benign Het
Scnm1 A G 3: 95,037,066 (GRCm39) probably benign Het
Skint11 A T 4: 114,088,959 (GRCm39) N251I probably damaging Het
Slc19a3 T A 1: 83,000,282 (GRCm39) N245I possibly damaging Het
Slc1a3 A T 15: 8,675,188 (GRCm39) D272E probably damaging Het
Smok2b T A 17: 13,454,440 (GRCm39) V200D possibly damaging Het
Sspo T C 6: 48,429,112 (GRCm39) Y417H probably damaging Het
Stk11ip C A 1: 75,504,979 (GRCm39) S388R probably damaging Het
Svep1 T C 4: 58,049,282 (GRCm39) probably null Het
Sytl2 A G 7: 90,038,114 (GRCm39) I525V probably benign Het
Tie1 T C 4: 118,343,390 (GRCm39) N158D probably benign Het
Tle2 T C 10: 81,416,418 (GRCm39) L180P probably damaging Het
Txlnb T C 10: 17,714,657 (GRCm39) L363P probably damaging Het
Upk3b C G 5: 136,072,890 (GRCm39) A258G probably benign Het
Usp32 A T 11: 84,908,612 (GRCm39) D1031E possibly damaging Het
Vmn2r116 C T 17: 23,620,041 (GRCm39) L592F probably benign Het
Zfp607b A G 7: 27,402,294 (GRCm39) H250R 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
IGL02472:Dnm2 APN 9 21,397,004 (GRCm39) missense possibly damaging 0.55
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
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
Predicted Primers PCR Primer
(F):5'- CCTCAGTCACTTGTGGTAGATG -3'
(R):5'- GCTACACTGGAAGCCATCAG -3'

Sequencing Primer
(F):5'- GTGGTAGATGTTCACAATATCCTTCC -3'
(R):5'- CTACACTGGAAGCCATCAGAAGGG -3'
Posted On 2016-10-24