Incidental Mutation 'R2346:Dnm2'
| ID |
245951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnm2
|
| Ensembl Gene |
ENSMUSG00000033335 |
| Gene Name |
dynamin 2 |
| Synonyms |
b2b2159Clo, Dyn2 |
| MMRRC Submission |
040329-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2346 (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 21378852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 137
(L137P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072362]
[ENSMUST00000091087]
[ENSMUST00000115404]
[ENSMUST00000165766]
[ENSMUST00000172482]
[ENSMUST00000173397]
[ENSMUST00000174828]
|
| AlphaFold |
P39054 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072362
AA Change: L137P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072199
Gene: ENSMUSG00000033335
AA Change: L137P
| Domain | Start | End | E-Value | Type |
|---|
|
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: L137P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088616
Gene: ENSMUSG00000033335
AA Change: L137P
| Domain | Start | End | E-Value | Type |
|---|
|
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: L137P
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111063
Gene: ENSMUSG00000033335
AA Change: L137P
| Domain | Start | End | E-Value | Type |
|---|
|
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: L137P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128961
Gene: ENSMUSG00000033335
AA Change: L137P
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000172482
AA Change: L137P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133564
Gene: ENSMUSG00000033335
AA Change: L137P
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000173397
AA Change: L137P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134243
Gene: ENSMUSG00000033335
AA Change: L137P
| Domain | Start | End | E-Value | Type |
|---|
|
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: L87P
|
| SMART Domains |
Protein: ENSMUSP00000134696
Gene: ENSMUSG00000033335
AA Change: L87P
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000174828
|
| SMART Domains |
Protein: ENSMUSP00000133961
Gene: ENSMUSG00000033335
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dynamin_N
|
34 |
57 |
9.1e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.9698 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (21/21) |
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC051665 |
T |
C |
13: 60,931,774 (GRCm39) |
|
probably benign |
Het |
| Ces1a |
C |
T |
8: 93,751,947 (GRCm39) |
V396M |
probably benign |
Het |
| Elf2 |
A |
G |
3: 51,164,865 (GRCm39) |
S380P |
probably benign |
Het |
| Fbxw15 |
T |
C |
9: 109,394,500 (GRCm39) |
Y105C |
probably damaging |
Het |
| Gm12588 |
T |
C |
11: 121,796,994 (GRCm39) |
Y285C |
probably benign |
Het |
| Gm21276 |
T |
A |
7: 38,467,575 (GRCm39) |
|
noncoding transcript |
Het |
| Kat2b |
A |
G |
17: 53,917,932 (GRCm39) |
N97S |
probably benign |
Het |
| Mus81 |
A |
G |
19: 5,534,991 (GRCm39) |
|
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or8a1b |
T |
C |
9: 37,622,661 (GRCm39) |
R305G |
possibly damaging |
Het |
| Pkhd1l1 |
C |
A |
15: 44,423,902 (GRCm39) |
A3148E |
possibly damaging |
Het |
| Prkar2b |
T |
C |
12: 32,022,149 (GRCm39) |
N212S |
probably benign |
Het |
| Rp1 |
T |
A |
1: 4,418,236 (GRCm39) |
T959S |
probably damaging |
Het |
| Samd4 |
G |
A |
14: 47,122,299 (GRCm39) |
G8R |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skiv2l-ps1 |
A |
G |
17: 34,989,076 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r20 |
A |
G |
6: 57,408,931 (GRCm39) |
M86V |
possibly damaging |
Het |
| Vwa1 |
A |
G |
4: 155,857,526 (GRCm39) |
Y91H |
probably benign |
Het |
| Zan |
A |
G |
5: 137,420,129 (GRCm39) |
S2843P |
unknown |
Het |
| Zbtb39 |
A |
T |
10: 127,577,450 (GRCm39) |
Q8L |
possibly damaging |
Het |
|
| Other mutations in Dnm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTGAAATGTGTTCTAGTAGGAG -3'
(R):5'- TGTGACAGAAAGCACCTCAG -3'
Sequencing Primer
(F):5'- TAGGAGTGTTAGGAGTGACCCC -3'
(R):5'- AGCACTACTGGCTGCTGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation