Incidental Mutation 'IGL00566:Actr2'
| ID |
332631 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Actr2
|
| Ensembl Gene |
ENSMUSG00000020152 |
| Gene Name |
ARP2 actin-related protein 2 |
| Synonyms |
4921510D23Rik, Arp2, D6Ertd746e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
IGL00566
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
20012304-20062913 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 20022487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 328
(R328L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000137]
|
| AlphaFold |
P61161 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000137
AA Change: R328L
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000000137
Gene: ENSMUSG00000020152
AA Change: R328L
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
6 |
390 |
2.78e-208 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for this mutation exhibit modifies lethality associated with F5 null Tfpi heterozygous mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,274,815 (GRCm39) |
T173A |
possibly damaging |
Het |
| Acaa2 |
G |
A |
18: 74,926,449 (GRCm39) |
G135E |
probably damaging |
Het |
| Adam1b |
T |
C |
5: 121,639,056 (GRCm39) |
D663G |
probably damaging |
Het |
| Adcy10 |
A |
T |
1: 165,379,483 (GRCm39) |
E915V |
probably benign |
Het |
| Antxr2 |
G |
A |
5: 98,034,466 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,398,972 (GRCm39) |
|
probably benign |
Het |
| Clec4g |
T |
C |
8: 3,766,410 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
A |
G |
17: 25,202,925 (GRCm39) |
V368A |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,240,307 (GRCm39) |
R248K |
probably benign |
Het |
| Fut10 |
T |
C |
8: 31,725,712 (GRCm39) |
Y156H |
probably damaging |
Het |
| Ice2 |
T |
C |
9: 69,323,395 (GRCm39) |
V630A |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,467,174 (GRCm39) |
V179D |
probably damaging |
Het |
| Kcnj2 |
A |
C |
11: 110,962,653 (GRCm39) |
E15A |
probably damaging |
Het |
| Kifbp |
G |
T |
10: 62,395,118 (GRCm39) |
S508* |
probably null |
Het |
| Lpcat2b |
T |
A |
5: 107,581,670 (GRCm39) |
L333Q |
probably damaging |
Het |
| Lrguk |
A |
C |
6: 34,033,109 (GRCm39) |
L258F |
probably damaging |
Het |
| M6pr |
A |
T |
6: 122,290,337 (GRCm39) |
K100M |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,798,657 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
A |
G |
14: 88,705,317 (GRCm39) |
V661A |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,837,098 (GRCm39) |
H2815Q |
probably benign |
Het |
|
| Other mutations in Actr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Actr2
|
APN |
11 |
20,044,370 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00164:Actr2
|
APN |
11 |
20,030,015 (GRCm39) |
splice site |
probably benign |
|
|
IGL00822:Actr2
|
APN |
11 |
20,044,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02993:Actr2
|
APN |
11 |
20,022,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03330:Actr2
|
APN |
11 |
20,041,330 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0092:Actr2
|
UTSW |
11 |
20,044,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0129:Actr2
|
UTSW |
11 |
20,050,939 (GRCm39) |
splice site |
probably benign |
|
|
R0513:Actr2
|
UTSW |
11 |
20,030,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0848:Actr2
|
UTSW |
11 |
20,022,584 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0863:Actr2
|
UTSW |
11 |
20,030,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5175:Actr2
|
UTSW |
11 |
20,030,114 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5364:Actr2
|
UTSW |
11 |
20,050,797 (GRCm39) |
intron |
probably benign |
|
|
R6544:Actr2
|
UTSW |
11 |
20,050,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7330:Actr2
|
UTSW |
11 |
20,022,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8340:Actr2
|
UTSW |
11 |
20,044,435 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9542:Actr2
|
UTSW |
11 |
20,044,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9599:Actr2
|
UTSW |
11 |
20,030,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Actr2
|
UTSW |
11 |
20,030,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0066:Actr2
|
UTSW |
11 |
20,030,066 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0066:Actr2
|
UTSW |
11 |
20,030,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-08-05 |
Incidental Mutation