Incidental Mutation 'R1393:Acta2'
| ID |
162718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acta2
|
| Ensembl Gene |
ENSMUSG00000035783 |
| Gene Name |
actin alpha 2, smooth muscle, aorta |
| Synonyms |
Actvs, alphaSMA, SMalphaA, SMAalpha, 0610041G09Rik, a-SMA |
| MMRRC Submission |
039455-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.229)
|
| Stock # |
R1393 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
34218490-34232990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34219192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 337
(R337C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048218
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039631]
[ENSMUST00000054956]
[ENSMUST00000119603]
|
| AlphaFold |
P62737 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039631
AA Change: R337C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048218
Gene: ENSMUSG00000035783
AA Change: R337C
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
7 |
377 |
9.92e-237 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054956
|
| SMART Domains |
Protein: ENSMUSP00000059927
Gene: ENSMUSG00000024776
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:USP8_dimer
|
19 |
132 |
3e-21 |
PFAM |
|
coiled coil region
|
149 |
176 |
N/A |
INTRINSIC |
|
JAB_MPN
|
268 |
394 |
4.29e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119603
|
| SMART Domains |
Protein: ENSMUSP00000112938
Gene: ENSMUSG00000024776
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:USP8_dimer
|
19 |
132 |
3.9e-21 |
PFAM |
|
coiled coil region
|
149 |
176 |
N/A |
INTRINSIC |
|
JAB_MPN
|
268 |
394 |
4.29e-13 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired vascular contractility and blood pressure homeostasis, increased blood-retina barrier permeability, and reduced retinal cone and rod function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,379,180 (GRCm39) |
N682S |
probably benign |
Het |
| Anxa5 |
G |
A |
3: 36,507,658 (GRCm39) |
T194I |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,130,647 (GRCm39) |
T6A |
possibly damaging |
Het |
| Atg4d |
T |
A |
9: 21,182,129 (GRCm39) |
Y317N |
probably damaging |
Het |
| Bcl6 |
A |
G |
16: 23,796,316 (GRCm39) |
V37A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,716 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,404 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Chad |
A |
T |
11: 94,456,140 (GRCm39) |
M73L |
probably benign |
Het |
| Copz1 |
A |
G |
15: 103,203,171 (GRCm39) |
N95S |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,456,818 (GRCm39) |
V717A |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,788,548 (GRCm39) |
G140R |
probably damaging |
Het |
| Gm14226 |
A |
T |
2: 154,866,111 (GRCm39) |
S23C |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,405 (GRCm39) |
E545G |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,637,801 (GRCm39) |
F198L |
probably benign |
Het |
| Patj |
G |
A |
4: 98,312,648 (GRCm39) |
V329I |
probably benign |
Het |
| Ptcd3 |
T |
A |
6: 71,866,605 (GRCm39) |
T404S |
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,371,641 (GRCm39) |
C867R |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 58,055,268 (GRCm39) |
L45Q |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,779,591 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
T |
C |
9: 22,191,810 (GRCm39) |
D90G |
probably benign |
Het |
|
| Other mutations in Acta2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01660:Acta2
|
APN |
19 |
34,229,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01802:Acta2
|
APN |
19 |
34,220,836 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01945:Acta2
|
APN |
19 |
34,229,254 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02136:Acta2
|
APN |
19 |
34,229,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03114:Acta2
|
APN |
19 |
34,222,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0648:Acta2
|
UTSW |
19 |
34,225,934 (GRCm39) |
missense |
probably benign |
|
|
R1597:Acta2
|
UTSW |
19 |
34,229,983 (GRCm39) |
splice site |
probably benign |
|
|
R2045:Acta2
|
UTSW |
19 |
34,220,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2338:Acta2
|
UTSW |
19 |
34,225,941 (GRCm39) |
splice site |
probably benign |
|
|
R3113:Acta2
|
UTSW |
19 |
34,220,752 (GRCm39) |
missense |
probably benign |
|
|
R3940:Acta2
|
UTSW |
19 |
34,220,880 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3955:Acta2
|
UTSW |
19 |
34,229,126 (GRCm39) |
splice site |
probably benign |
|
|
R4765:Acta2
|
UTSW |
19 |
34,223,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4826:Acta2
|
UTSW |
19 |
34,229,223 (GRCm39) |
nonsense |
probably null |
|
|
R6453:Acta2
|
UTSW |
19 |
34,224,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6754:Acta2
|
UTSW |
19 |
34,222,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6941:Acta2
|
UTSW |
19 |
34,229,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Acta2
|
UTSW |
19 |
34,219,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7461:Acta2
|
UTSW |
19 |
34,229,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7463:Acta2
|
UTSW |
19 |
34,229,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7464:Acta2
|
UTSW |
19 |
34,229,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7536:Acta2
|
UTSW |
19 |
34,229,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7537:Acta2
|
UTSW |
19 |
34,229,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7605:Acta2
|
UTSW |
19 |
34,229,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7609:Acta2
|
UTSW |
19 |
34,229,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7610:Acta2
|
UTSW |
19 |
34,229,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7611:Acta2
|
UTSW |
19 |
34,229,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7613:Acta2
|
UTSW |
19 |
34,229,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7626:Acta2
|
UTSW |
19 |
34,229,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7627:Acta2
|
UTSW |
19 |
34,229,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7803:Acta2
|
UTSW |
19 |
34,220,818 (GRCm39) |
missense |
probably benign |
|
|
R7872:Acta2
|
UTSW |
19 |
34,220,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8801:Acta2
|
UTSW |
19 |
34,229,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9059:Acta2
|
UTSW |
19 |
34,219,155 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9191:Acta2
|
UTSW |
19 |
34,222,480 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9487:Acta2
|
UTSW |
19 |
34,225,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9675:Acta2
|
UTSW |
19 |
34,223,612 (GRCm39) |
missense |
|
|
|
R9776:Acta2
|
UTSW |
19 |
34,223,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGCTACAAGTTAAGGGTAGCAC -3'
(R):5'- TCGTCTTTGCACACAGTAGGACTTC -3'
Sequencing Primer
(F):5'- CTACAAGTTAAGGGTAGCACATGTC -3'
(R):5'- CTGAGGTCAGCTCTGGAATC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation