Incidental Mutation 'IGL03330:Actr2'
| ID |
416847 |
| 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 # |
IGL03330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
20012304-20062913 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20041330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 138
(V138A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000137]
|
| AlphaFold |
P61161 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000137
AA Change: V138A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000000137
Gene: ENSMUSG00000020152
AA Change: V138A
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
6 |
390 |
2.78e-208 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132022
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,050,254 (GRCm39) |
I837V |
probably damaging |
Het |
| Adam30 |
G |
A |
3: 98,069,772 (GRCm39) |
C535Y |
probably damaging |
Het |
| Bcor |
G |
A |
X: 11,925,110 (GRCm39) |
T162I |
possibly damaging |
Het |
| Catsperd |
C |
A |
17: 56,939,316 (GRCm39) |
N48K |
possibly damaging |
Het |
| Ccr2 |
T |
C |
9: 123,905,996 (GRCm39) |
I92T |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,020,599 (GRCm39) |
I197M |
probably damaging |
Het |
| Cpne3 |
T |
A |
4: 19,553,774 (GRCm39) |
T86S |
possibly damaging |
Het |
| Dnm3 |
A |
T |
1: 162,148,560 (GRCm39) |
D270E |
probably benign |
Het |
| Enpp1 |
C |
T |
10: 24,540,804 (GRCm39) |
|
probably benign |
Het |
| Ephx1 |
A |
G |
1: 180,827,371 (GRCm39) |
V94A |
possibly damaging |
Het |
| Fbxw25 |
T |
C |
9: 109,474,307 (GRCm39) |
M448V |
probably benign |
Het |
| Fhl2 |
A |
G |
1: 43,192,351 (GRCm39) |
L14P |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,798,407 (GRCm39) |
R191G |
probably null |
Het |
| Gtpbp6 |
T |
C |
5: 110,254,929 (GRCm39) |
T151A |
possibly damaging |
Het |
| Lars1 |
T |
A |
18: 42,353,009 (GRCm39) |
M803L |
probably benign |
Het |
| Myc |
A |
G |
15: 61,859,998 (GRCm39) |
T224A |
probably benign |
Het |
| Noxa1 |
T |
A |
2: 24,980,526 (GRCm39) |
D161V |
possibly damaging |
Het |
| Or2w3b |
A |
C |
11: 58,623,745 (GRCm39) |
L82R |
probably damaging |
Het |
| Or4l1 |
C |
T |
14: 50,166,678 (GRCm39) |
G108R |
probably damaging |
Het |
| Or8g52 |
C |
T |
9: 39,630,784 (GRCm39) |
T87I |
probably benign |
Het |
| Peg3 |
G |
T |
7: 6,713,412 (GRCm39) |
N603K |
probably damaging |
Het |
| Rhox4c |
G |
T |
X: 36,662,181 (GRCm39) |
G15V |
probably benign |
Het |
| Sgcb |
T |
A |
5: 73,797,212 (GRCm39) |
S183C |
probably damaging |
Het |
| Slc6a19 |
T |
A |
13: 73,837,679 (GRCm39) |
I239F |
possibly damaging |
Het |
| Socs7 |
T |
C |
11: 97,269,378 (GRCm39) |
Y399H |
probably damaging |
Het |
| Stc2 |
T |
C |
11: 31,319,804 (GRCm39) |
D20G |
probably benign |
Het |
| Tmem184b |
A |
T |
15: 79,254,179 (GRCm39) |
|
probably null |
Het |
| Tpo |
A |
G |
12: 30,153,500 (GRCm39) |
S285P |
probably damaging |
Het |
| Vmn2r27 |
G |
T |
6: 124,207,139 (GRCm39) |
Y167* |
probably null |
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 |
|
|
IGL00566:Actr2
|
APN |
11 |
20,022,487 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation