Incidental Mutation 'R9278:Dnm2'
ID 703441
Institutional Source Beutler Lab
Gene Symbol Dnm2
Ensembl Gene ENSMUSG00000033335
Gene Name dynamin 2
Synonyms b2b2159Clo, Dyn2
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9278 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 21336204-21419055 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21416977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 837 (R837W)
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 unknown
Transcript: ENSMUST00000072362
AA Change: R837W
SMART Domains Protein: ENSMUSP00000072199
Gene: ENSMUSG00000033335
AA Change: R837W

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 possibly damaging
Transcript: ENSMUST00000091087
AA Change: R833W

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000088616
Gene: ENSMUSG00000033335
AA Change: R833W

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 unknown
Transcript: ENSMUST00000115404
AA Change: R837W
SMART Domains Protein: ENSMUSP00000111063
Gene: ENSMUSG00000033335
AA Change: R837W

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 unknown
Transcript: ENSMUST00000165766
AA Change: R837W
SMART Domains Protein: ENSMUSP00000128961
Gene: ENSMUSG00000033335
AA Change: R837W

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 unknown
Transcript: ENSMUST00000172482
AA Change: R837W
SMART Domains Protein: ENSMUSP00000133564
Gene: ENSMUSG00000033335
AA Change: R837W

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 possibly damaging
Transcript: ENSMUST00000173397
AA Change: R837W

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134243
Gene: ENSMUSG00000033335
AA Change: R837W

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 noncoding transcript
Transcript: ENSMUST00000174243
Predicted Effect
SMART Domains Protein: ENSMUSP00000134696
Gene: ENSMUSG00000033335
AA Change: R783W

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 noncoding transcript
Transcript: ENSMUST00000213316
Predicted Effect probably benign
Transcript: ENSMUST00000214576
Predicted Effect probably benign
Transcript: ENSMUST00000213167
Predicted Effect probably benign
Transcript: ENSMUST00000214285
Meta Mutation Damage Score 0.1401 question?
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 93.4%
  • 10x: 93.2%
  • 20x: 92.9%
Validation Efficiency 97% (77/79)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T A 17: 14,024,270 (GRCm39) C59S probably damaging Het
Aicda C T 6: 122,538,854 (GRCm39) A161V possibly damaging Het
Ankrd12 C T 17: 66,344,599 (GRCm39) E91K possibly damaging Het
Arpc2 C A 1: 74,276,041 (GRCm39) F19L probably benign Het
Aspa T C 11: 73,215,280 (GRCm39) K12E possibly damaging Het
Chd8 G A 14: 52,472,627 (GRCm39) P392L probably benign Het
Cldn10 C T 14: 119,111,647 (GRCm39) R206W probably damaging Het
Clec4b2 T A 6: 123,181,224 (GRCm39) M203K probably damaging Het
Clec4d G T 6: 123,251,651 (GRCm39) E178* probably null Het
Clec4d T C 6: 123,251,649 (GRCm39) M177T probably benign Het
Cmpk2 A T 12: 26,519,568 (GRCm39) Y73F probably benign Het
Col1a1 T A 11: 94,838,103 (GRCm39) V845D unknown Het
Cyp2c67 C T 19: 39,597,699 (GRCm39) R433Q probably damaging Het
Dda1 A T 8: 71,927,130 (GRCm39) probably null Het
Ddx60 A T 8: 62,431,012 (GRCm39) Y849F possibly damaging Het
Dtwd1 C T 2: 126,006,728 (GRCm39) T250I probably damaging Het
Efcab6 A G 15: 83,777,094 (GRCm39) V1114A probably damaging Het
Fat4 A G 3: 38,945,171 (GRCm39) T1355A probably benign Het
Fbxo40 T G 16: 36,789,940 (GRCm39) D390A possibly damaging Het
Gnaz T A 10: 74,827,437 (GRCm39) L63Q probably benign Het
H6pd T A 4: 150,080,307 (GRCm39) K179N probably damaging Het
Hmgb2 A G 8: 57,965,786 (GRCm39) probably benign Het
Hps5 A G 7: 46,440,397 (GRCm39) F18L probably benign Het
Hyal5 A G 6: 24,876,694 (GRCm39) E189G probably benign Het
Ifnar1 T A 16: 91,302,013 (GRCm39) I496N probably damaging Het
Ift70a2 T C 2: 75,807,375 (GRCm39) D379G probably damaging Het
Igf2r C A 17: 12,914,240 (GRCm39) C1743F probably damaging Het
Igfn1 C A 1: 135,901,185 (GRCm39) R431L probably damaging Het
Itch A G 2: 155,045,217 (GRCm39) Q507R probably benign Het
Kbtbd2 C A 6: 56,757,331 (GRCm39) R135L probably damaging Het
Kcnn2 T C 18: 45,725,446 (GRCm39) I314T probably damaging Het
Lix1 A G 17: 17,623,211 (GRCm39) D2G probably damaging Het
Lrp1b T C 2: 40,487,076 (GRCm39) Y4557C Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mcam G T 9: 44,046,473 (GRCm39) probably benign Het
Med19 G T 2: 84,508,975 (GRCm39) G63C probably damaging Het
Mfsd4b1 C T 10: 39,883,330 (GRCm39) R40H probably damaging Het
Neb C T 2: 52,146,190 (GRCm39) R2929H probably damaging Het
Nlrc5 A G 8: 95,237,908 (GRCm39) D1434G probably benign Het
Nlrp14 A T 7: 106,797,049 (GRCm39) N972I probably damaging Het
Or13a18 T C 7: 140,190,936 (GRCm39) Y278H probably damaging Het
Or14j7 A T 17: 38,235,275 (GRCm39) M273L probably benign Het
Or2h15 A T 17: 38,441,693 (GRCm39) L130Q probably damaging Het
Or4a74 A C 2: 89,439,948 (GRCm39) F166C probably damaging Het
Or8g29-ps1 A G 9: 39,200,781 (GRCm39) V135A probably benign Het
Otop1 T C 5: 38,460,158 (GRCm39) V575A probably damaging Het
Pcdhb4 A G 18: 37,441,925 (GRCm39) S412G possibly damaging Het
Pcsk4 T C 10: 80,161,224 (GRCm39) D230G probably damaging Het
Phldb2 C A 16: 45,646,308 (GRCm39) S46I probably damaging Het
Pik3ca A T 3: 32,508,587 (GRCm39) N785I probably damaging Het
Polr2b A G 5: 77,471,485 (GRCm39) R274G probably damaging Het
Prkdc G A 16: 15,634,523 (GRCm39) probably null Het
Prune2 C T 19: 17,101,144 (GRCm39) T2216I probably benign Het
Psma3 A T 12: 71,041,156 (GRCm39) D252V probably benign Het
Rnf213 T C 11: 119,326,768 (GRCm39) V1586A Het
Ryr2 T C 13: 11,897,976 (GRCm39) T140A probably benign Het
Slc25a48 A G 13: 56,611,552 (GRCm39) I220V probably benign Het
Slc2a1 A T 4: 118,990,607 (GRCm39) E246D probably benign Het
Slc45a4 A G 15: 73,458,206 (GRCm39) Y448H probably benign Het
Sorl1 C T 9: 41,957,857 (GRCm39) V596I probably benign Het
Spag6 A C 2: 18,703,985 (GRCm39) E11A probably benign Het
Spef2 A G 15: 9,727,495 (GRCm39) probably null Het
Spon1 T C 7: 113,628,188 (GRCm39) S315P probably damaging Het
Stard3 G A 11: 98,262,931 (GRCm39) probably benign Het
Sv2c A G 13: 96,112,589 (GRCm39) M636T probably damaging Het
Syt17 T A 7: 118,033,480 (GRCm39) D172V probably damaging Het
Tcf4 A G 18: 69,766,652 (GRCm39) Y206C probably damaging Het
Tead2 G T 7: 44,880,776 (GRCm39) S318I probably benign Het
Tom1 A T 8: 75,783,883 (GRCm39) D289V probably damaging Het
Tonsl A G 15: 76,520,971 (GRCm39) probably benign Het
Tsen15 T C 1: 152,259,098 (GRCm39) I87V probably damaging Het
Usp15 A G 10: 123,007,112 (GRCm39) F123S probably damaging Het
Vmn1r220 A T 13: 23,368,258 (GRCm39) I146N possibly damaging Het
Vmn2r108 A T 17: 20,692,561 (GRCm39) N98K probably benign Het
Vmn2r71 T A 7: 85,269,788 (GRCm39) M433K probably benign Het
Vmn2r97 A T 17: 19,134,762 (GRCm39) H60L probably benign Het
Wbp4 A G 14: 79,699,486 (GRCm39) V336A probably benign Het
Zfp663 T C 2: 165,202,010 (GRCm39) probably null Het
Zpld2 A G 4: 133,922,770 (GRCm39) L521P 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
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
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'- CAATATCCTTCCTCCAGATTACAGC -3'
(R):5'- AGGGCTCAATGTCTCAGGAC -3'

Sequencing Primer
(F):5'- ACCTGTGTCCAGTGTGCAC -3'
(R):5'- TGTCTCAGGACACAAGCAG -3'
Posted On 2022-03-25