Incidental Mutation 'R6498:Actn2'
ID |
523117 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Actn2
|
Ensembl Gene |
ENSMUSG00000052374 |
Gene Name |
actinin alpha 2 |
Synonyms |
1110008F24Rik |
MMRRC Submission |
044630-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.622)
|
Stock # |
R6498 (G1)
|
Quality Score |
224.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
12284312-12355613 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 12291359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 682
(E682K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064204]
[ENSMUST00000168193]
[ENSMUST00000221162]
|
AlphaFold |
Q9JI91 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064204
AA Change: E682K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000067708 Gene: ENSMUSG00000052374 AA Change: E682K
Domain | Start | End | E-Value | Type |
CH
|
40 |
140 |
5.22e-23 |
SMART |
CH
|
153 |
252 |
1.77e-25 |
SMART |
low complexity region
|
255 |
266 |
N/A |
INTRINSIC |
Pfam:Spectrin
|
281 |
391 |
2e-16 |
PFAM |
SPEC
|
404 |
505 |
5.81e-24 |
SMART |
SPEC
|
519 |
626 |
6.75e-11 |
SMART |
SPEC
|
640 |
739 |
1.26e0 |
SMART |
EFh
|
757 |
785 |
8.16e-1 |
SMART |
EFh
|
793 |
821 |
7.7e-3 |
SMART |
efhand_Ca_insen
|
824 |
890 |
3.9e-37 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168193
AA Change: E682K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129609 Gene: ENSMUSG00000052374 AA Change: E682K
Domain | Start | End | E-Value | Type |
CH
|
40 |
140 |
5.22e-23 |
SMART |
CH
|
153 |
252 |
1.77e-25 |
SMART |
low complexity region
|
255 |
266 |
N/A |
INTRINSIC |
Pfam:Spectrin
|
281 |
391 |
7e-18 |
PFAM |
SPEC
|
404 |
505 |
5.81e-24 |
SMART |
SPEC
|
519 |
626 |
6.75e-11 |
SMART |
SPEC
|
640 |
739 |
1.26e0 |
SMART |
EFh
|
757 |
785 |
8.16e-1 |
SMART |
EFh
|
793 |
821 |
7.7e-3 |
SMART |
efhand_Ca_insen
|
824 |
890 |
3.9e-37 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221162
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222034
|
Meta Mutation Damage Score |
0.2682 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.8%
|
Validation Efficiency |
100% (37/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
G |
11: 110,182,928 (GRCm39) |
N1043T |
possibly damaging |
Het |
Agtpbp1 |
A |
G |
13: 59,624,854 (GRCm39) |
V833A |
possibly damaging |
Het |
Arrb2 |
G |
T |
11: 70,330,375 (GRCm39) |
R333L |
probably benign |
Het |
Atp9b |
C |
T |
18: 80,820,230 (GRCm39) |
S135N |
probably benign |
Het |
Cep112 |
T |
A |
11: 108,331,357 (GRCm39) |
S135R |
probably benign |
Het |
D630045J12Rik |
G |
A |
6: 38,124,132 (GRCm39) |
R1607* |
probably null |
Het |
Duox1 |
A |
T |
2: 122,150,088 (GRCm39) |
S160C |
probably damaging |
Het |
Eogt |
A |
T |
6: 97,112,174 (GRCm39) |
Y160N |
probably damaging |
Het |
Exosc10 |
T |
C |
4: 148,657,795 (GRCm39) |
V647A |
probably benign |
Het |
Fbxo44 |
C |
T |
4: 148,238,882 (GRCm39) |
|
|
Het |
Fen1 |
G |
T |
19: 10,177,479 (GRCm39) |
R322S |
probably damaging |
Het |
Gls |
A |
C |
1: 52,259,198 (GRCm39) |
N134K |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,235,112 (GRCm39) |
V82A |
possibly damaging |
Het |
Il33 |
G |
A |
19: 29,927,137 (GRCm39) |
E23K |
probably benign |
Het |
Macroh2a2 |
C |
A |
10: 61,593,614 (GRCm39) |
V21F |
probably damaging |
Het |
Map2k5 |
C |
A |
9: 63,193,683 (GRCm39) |
A266S |
possibly damaging |
Het |
Or13g1 |
T |
C |
7: 85,956,226 (GRCm39) |
I32V |
probably benign |
Het |
Or2t29 |
T |
A |
11: 58,433,408 (GRCm39) |
N298I |
probably damaging |
Het |
Or5p61 |
C |
T |
7: 107,758,639 (GRCm39) |
C147Y |
probably benign |
Het |
Pcdh1 |
G |
A |
18: 38,330,490 (GRCm39) |
P838S |
probably benign |
Het |
Pcdha5 |
A |
G |
18: 37,095,768 (GRCm39) |
E759G |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,719,505 (GRCm39) |
I1214T |
unknown |
Het |
Per3 |
T |
C |
4: 151,113,662 (GRCm39) |
I299V |
probably benign |
Het |
Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
Synpo2 |
A |
T |
3: 122,873,881 (GRCm39) |
|
probably null |
Het |
Sys1 |
G |
A |
2: 164,306,438 (GRCm39) |
A131T |
probably benign |
Het |
Tekt2 |
A |
G |
4: 126,218,098 (GRCm39) |
L138P |
probably benign |
Het |
Tmprss12 |
T |
A |
15: 100,183,133 (GRCm39) |
N158K |
probably damaging |
Het |
Tnrc18 |
A |
T |
5: 142,717,923 (GRCm39) |
M2177K |
unknown |
Het |
Trim43a |
T |
A |
9: 88,464,395 (GRCm39) |
I102N |
probably damaging |
Het |
Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
Utrn |
C |
T |
10: 12,317,837 (GRCm39) |
C498Y |
probably benign |
Het |
Vmn1r39 |
A |
T |
6: 66,781,841 (GRCm39) |
V159D |
probably damaging |
Het |
Vmn1r44 |
A |
G |
6: 89,870,562 (GRCm39) |
T103A |
probably benign |
Het |
Wsb1 |
A |
T |
11: 79,139,315 (GRCm39) |
V127D |
probably damaging |
Het |
Zfp268 |
T |
A |
4: 145,349,459 (GRCm39) |
C299S |
probably damaging |
Het |
|
Other mutations in Actn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01469:Actn2
|
APN |
13 |
12,325,796 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01909:Actn2
|
APN |
13 |
12,324,479 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01994:Actn2
|
APN |
13 |
12,305,563 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02118:Actn2
|
APN |
13 |
12,291,433 (GRCm39) |
intron |
probably benign |
|
IGL02480:Actn2
|
APN |
13 |
12,291,364 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02827:Actn2
|
APN |
13 |
12,290,085 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03110:Actn2
|
APN |
13 |
12,324,493 (GRCm39) |
missense |
probably benign |
0.02 |
R0044:Actn2
|
UTSW |
13 |
12,290,013 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0512:Actn2
|
UTSW |
13 |
12,292,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R1623:Actn2
|
UTSW |
13 |
12,355,320 (GRCm39) |
missense |
probably benign |
|
R1983:Actn2
|
UTSW |
13 |
12,293,696 (GRCm39) |
missense |
probably benign |
0.00 |
R1989:Actn2
|
UTSW |
13 |
12,355,276 (GRCm39) |
missense |
probably benign |
0.38 |
R2148:Actn2
|
UTSW |
13 |
12,315,835 (GRCm39) |
missense |
probably damaging |
0.99 |
R2196:Actn2
|
UTSW |
13 |
12,290,065 (GRCm39) |
missense |
probably damaging |
0.99 |
R2254:Actn2
|
UTSW |
13 |
12,311,365 (GRCm39) |
missense |
probably benign |
0.20 |
R2850:Actn2
|
UTSW |
13 |
12,290,065 (GRCm39) |
missense |
probably damaging |
0.99 |
R4391:Actn2
|
UTSW |
13 |
12,305,634 (GRCm39) |
missense |
probably damaging |
0.99 |
R4396:Actn2
|
UTSW |
13 |
12,325,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R4758:Actn2
|
UTSW |
13 |
12,303,472 (GRCm39) |
nonsense |
probably null |
|
R5068:Actn2
|
UTSW |
13 |
12,303,408 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5069:Actn2
|
UTSW |
13 |
12,303,408 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5070:Actn2
|
UTSW |
13 |
12,303,408 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5228:Actn2
|
UTSW |
13 |
12,303,545 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5382:Actn2
|
UTSW |
13 |
12,323,837 (GRCm39) |
missense |
probably benign |
0.37 |
R5408:Actn2
|
UTSW |
13 |
12,285,681 (GRCm39) |
missense |
probably benign |
0.41 |
R5975:Actn2
|
UTSW |
13 |
12,355,378 (GRCm39) |
missense |
probably benign |
0.43 |
R6189:Actn2
|
UTSW |
13 |
12,291,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R6226:Actn2
|
UTSW |
13 |
12,293,853 (GRCm39) |
missense |
probably benign |
|
R7094:Actn2
|
UTSW |
13 |
12,324,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R7164:Actn2
|
UTSW |
13 |
12,293,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R7218:Actn2
|
UTSW |
13 |
12,293,799 (GRCm39) |
missense |
probably benign |
0.33 |
R7260:Actn2
|
UTSW |
13 |
12,291,376 (GRCm39) |
missense |
probably benign |
0.00 |
R7768:Actn2
|
UTSW |
13 |
12,297,480 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7896:Actn2
|
UTSW |
13 |
12,309,203 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8141:Actn2
|
UTSW |
13 |
12,303,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R8702:Actn2
|
UTSW |
13 |
12,297,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R8785:Actn2
|
UTSW |
13 |
12,292,317 (GRCm39) |
missense |
probably benign |
0.02 |
R9028:Actn2
|
UTSW |
13 |
12,315,864 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9099:Actn2
|
UTSW |
13 |
12,303,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R9517:Actn2
|
UTSW |
13 |
12,295,317 (GRCm39) |
missense |
probably damaging |
0.97 |
X0018:Actn2
|
UTSW |
13 |
12,284,531 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Actn2
|
UTSW |
13 |
12,303,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTACAGAATTCACTGGAAACGG -3'
(R):5'- ATCTAGTGCCTTGGGTTCCC -3'
Sequencing Primer
(F):5'- TACAGAATTCACTGGAAACGGAGAGG -3'
(R):5'- GTCTCTGTGCTCACGGGTAC -3'
|
Posted On |
2018-06-06 |