Incidental Mutation 'R7307:Dnm2'
ID 567317
Institutional Source Beutler Lab
Gene Symbol Dnm2
Ensembl Gene ENSMUSG00000033335
Gene Name dynamin 2
Synonyms b2b2159Clo, Dyn2
MMRRC Submission 045366-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7307 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 21336204-21419055 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21396983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 487 (N487Y)
Ref Sequence ENSEMBL: ENSMUSP00000072199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072362] [ENSMUST00000091087] [ENSMUST00000115404] [ENSMUST00000165766] [ENSMUST00000172482] [ENSMUST00000173397]
AlphaFold P39054
Predicted Effect probably damaging
Transcript: ENSMUST00000072362
AA Change: N487Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072199
Gene: ENSMUSG00000033335
AA Change: N487Y

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 damaging
Transcript: ENSMUST00000091087
AA Change: N487Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088616
Gene: ENSMUSG00000033335
AA Change: N487Y

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 damaging
Transcript: ENSMUST00000115404
AA Change: N487Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111063
Gene: ENSMUSG00000033335
AA Change: N487Y

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 damaging
Transcript: ENSMUST00000165766
AA Change: N487Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128961
Gene: ENSMUSG00000033335
AA Change: N487Y

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 damaging
Transcript: ENSMUST00000172482
AA Change: N487Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133564
Gene: ENSMUSG00000033335
AA Change: N487Y

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
SMART Domains Protein: ENSMUSP00000133858
Gene: ENSMUSG00000033335
AA Change: N149Y

DomainStartEndE-ValueType
Pfam:Dynamin_M 1 163 2.4e-55 PFAM
Pfam:PH 193 248 2.6e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173397
AA Change: N487Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134243
Gene: ENSMUSG00000033335
AA Change: N487Y

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
SMART Domains Protein: ENSMUSP00000134696
Gene: ENSMUSG00000033335
AA Change: N437Y

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
Meta Mutation Damage Score 0.9661 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 16,936,259 (GRCm39) P155L probably benign Het
Adamts12 G T 15: 11,217,899 (GRCm39) L285F probably damaging Het
Ankrd6 A T 4: 32,816,949 (GRCm39) Y393N possibly damaging Het
Arhgap45 A G 10: 79,865,016 (GRCm39) Q993R probably benign Het
Arhgef33 G C 17: 80,654,549 (GRCm39) probably null Het
B4galnt3 T C 6: 120,192,392 (GRCm39) D448G probably benign Het
Capn1 C G 19: 6,043,938 (GRCm39) E564D possibly damaging Het
Ccdc85a A G 11: 28,349,384 (GRCm39) S474P probably benign Het
Cdk12 T A 11: 98,140,626 (GRCm39) L1289* probably null Het
Cramp1 A T 17: 25,193,719 (GRCm39) N920K possibly damaging Het
Cubn C T 2: 13,345,143 (GRCm39) S2091N probably damaging Het
Ddx1 A T 12: 13,273,960 (GRCm39) I581N probably damaging Het
Enc1 A C 13: 97,381,601 (GRCm39) N37T probably damaging Het
Ephb3 T G 16: 21,040,976 (GRCm39) I932S probably benign Het
Frk T A 10: 34,467,934 (GRCm39) M316K probably damaging Het
Gdap2 C T 3: 100,109,349 (GRCm39) R25C unknown Het
Gpat2 T A 2: 127,276,810 (GRCm39) D671E probably damaging Het
Gpr179 C T 11: 97,229,672 (GRCm39) E828K probably benign Het
Greb1l T C 18: 10,538,142 (GRCm39) Y1052H probably damaging Het
Gtf2f1 C T 17: 57,314,833 (GRCm39) S69N probably damaging Het
Hid1 A C 11: 115,239,308 (GRCm39) I785S probably damaging Het
Hmcn2 T C 2: 31,233,093 (GRCm39) I214T probably damaging Het
Hsd3b5 G T 3: 98,527,085 (GRCm39) F120L probably damaging Het
Kif16b C T 2: 142,554,851 (GRCm39) R649Q probably benign Het
Kif17 A T 4: 137,989,954 (GRCm39) E47D probably benign Het
Kmt2b T C 7: 30,279,896 (GRCm39) H1368R probably damaging Het
Kmt2d A T 15: 98,747,299 (GRCm39) S3342T unknown Het
Krt82 A G 15: 101,451,342 (GRCm39) C356R probably damaging Het
Lrit2 A G 14: 36,794,156 (GRCm39) K407E probably benign Het
Malt1 T A 18: 65,584,640 (GRCm39) H325Q possibly damaging Het
Mccc2 T G 13: 100,125,108 (GRCm39) D187A possibly damaging Het
Mgll T A 6: 88,791,103 (GRCm39) probably null Het
Mindy2 T G 9: 70,518,241 (GRCm39) E449A possibly damaging Het
Muc5b G A 7: 141,396,031 (GRCm39) V96M unknown Het
Nlrp4e A G 7: 23,020,953 (GRCm39) E480G probably benign Het
Nup98 A G 7: 101,784,002 (GRCm39) I1093T probably benign Het
Or13a26 G A 7: 140,285,060 (GRCm39) V299I probably benign Het
Or1j4 G A 2: 36,740,137 (GRCm39) M26I probably benign Het
Or4g7 A T 2: 111,309,105 (GRCm39) probably benign Het
Or52a20 G T 7: 103,366,173 (GRCm39) R124L probably damaging Het
Pcdhb6 A T 18: 37,468,531 (GRCm39) H484L probably benign Het
Phldb1 T C 9: 44,605,344 (GRCm39) T604A possibly damaging Het
Pitpnm3 G T 11: 71,961,790 (GRCm39) A275D probably damaging Het
Polr2a A T 11: 69,638,118 (GRCm39) probably null Het
Polr3a A G 14: 24,510,055 (GRCm39) C960R probably benign Het
Pou6f2 G A 13: 18,414,298 (GRCm39) A159V Het
Pramel11 A C 4: 143,623,345 (GRCm39) Y276* probably null Het
Pramel51 A C 12: 88,148,519 (GRCm39) C32W probably damaging Het
Psmc4 A G 7: 27,742,085 (GRCm39) V303A probably benign Het
Ptdss2 A G 7: 140,731,645 (GRCm39) N151S possibly damaging Het
Ptprk T A 10: 28,465,004 (GRCm39) Y1295* probably null Het
Rbm19 A G 5: 120,324,283 (GRCm39) K881E possibly damaging Het
Rcan2 T A 17: 44,331,993 (GRCm39) Y183* probably null Het
Rnd1 T C 15: 98,568,680 (GRCm39) E166G probably damaging Het
Rnf113a2 T A 12: 84,464,953 (GRCm39) C282S probably damaging Het
S100b G A 10: 76,092,926 (GRCm39) G20R probably benign Het
Sae1 G T 7: 16,102,469 (GRCm39) Y168* probably null Het
Samd9l C A 6: 3,372,600 (GRCm39) G1554* probably null Het
Samhd1 T C 2: 156,976,940 (GRCm39) S55G probably benign Het
Sgsm1 T C 5: 113,421,512 (GRCm39) D525G probably benign Het
Slc28a3 A T 13: 58,710,986 (GRCm39) M512K probably damaging Het
Slc9b2 T A 3: 135,024,151 (GRCm39) N67K probably benign Het
Smarca4 T A 9: 21,550,096 (GRCm39) I402N probably damaging Het
St7l T C 3: 104,796,669 (GRCm39) F261L probably benign Het
Syde2 T A 3: 145,721,553 (GRCm39) V1140D probably damaging Het
Syt6 T A 3: 103,494,788 (GRCm39) I251N probably damaging Het
Taok2 T C 7: 126,465,990 (GRCm39) E916G probably damaging Het
Tecta A G 9: 42,289,288 (GRCm39) S426P probably damaging Het
Thra T C 11: 98,655,134 (GRCm39) I338T probably damaging Het
Trub1 A T 19: 57,461,135 (GRCm39) Y137F probably damaging Het
Vps13b T C 15: 35,841,691 (GRCm39) F2574L probably benign Het
Ythdf3 T C 3: 16,237,664 (GRCm39) S2P possibly damaging Het
Zc3h13 T A 14: 75,567,981 (GRCm39) D1091E probably damaging Het
Zdhhc6 A G 19: 55,301,682 (GRCm39) Y100H 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
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
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'- ATTTAGCCTGCCCGCTACAC -3'
(R):5'- GAGTACACACCTTGTCCCTGAG -3'

Sequencing Primer
(F):5'- CCGCTACACCCTGTCGG -3'
(R):5'- TGTCCCTGAGATGTCCATAGAC -3'
Posted On 2019-06-26