Incidental Mutation 'R5382:Actn2'
ID |
424804 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Actn2
|
Ensembl Gene |
ENSMUSG00000052374 |
Gene Name |
actinin alpha 2 |
Synonyms |
1110008F24Rik |
MMRRC Submission |
042957-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.622)
|
Stock # |
R5382 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
12284312-12355613 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 12323837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 133
(M133L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064204]
[ENSMUST00000168193]
|
AlphaFold |
Q9JI91 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064204
AA Change: M133L
PolyPhen 2
Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000067708 Gene: ENSMUSG00000052374 AA Change: M133L
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 |
noncoding transcript
Transcript: ENSMUST00000110616
|
SMART Domains |
Protein: ENSMUSP00000106246 Gene: ENSMUSG00000052374
Domain | Start | End | E-Value | Type |
CH
|
40 |
140 |
5.22e-23 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168193
AA Change: M133L
PolyPhen 2
Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000129609 Gene: ENSMUSG00000052374 AA Change: M133L
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 |
|
Meta Mutation Damage Score |
0.0760 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (59/59) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp7 |
G |
A |
7: 28,314,844 (GRCm39) |
P250S |
possibly damaging |
Het |
Arhgap32 |
A |
T |
9: 32,063,306 (GRCm39) |
K105M |
probably damaging |
Het |
BC034090 |
A |
G |
1: 155,101,349 (GRCm39) |
V305A |
probably benign |
Het |
Brd1 |
G |
A |
15: 88,613,767 (GRCm39) |
T376M |
probably damaging |
Het |
Cbl |
C |
T |
9: 44,070,318 (GRCm39) |
A505T |
probably benign |
Het |
Cga |
G |
T |
4: 34,904,048 (GRCm39) |
M14I |
probably benign |
Het |
Ciao3 |
A |
G |
17: 25,995,894 (GRCm39) |
|
probably benign |
Het |
Cluh |
T |
C |
11: 74,555,935 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,225,832 (GRCm39) |
D165V |
unknown |
Het |
Cp |
T |
C |
3: 20,033,089 (GRCm39) |
W639R |
probably damaging |
Het |
Cyp7b1 |
T |
A |
3: 18,151,385 (GRCm39) |
D276V |
possibly damaging |
Het |
Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
T |
4: 58,850,934 (GRCm39) |
M413K |
probably benign |
Het |
Erc1 |
T |
A |
6: 119,738,233 (GRCm39) |
M509L |
probably benign |
Het |
Evi5l |
A |
G |
8: 4,228,653 (GRCm39) |
|
probably benign |
Het |
Exoc6 |
T |
C |
19: 37,587,127 (GRCm39) |
|
probably null |
Het |
Gm38706 |
C |
T |
6: 130,460,744 (GRCm39) |
|
noncoding transcript |
Het |
Gpr183 |
T |
C |
14: 122,192,333 (GRCm39) |
T63A |
possibly damaging |
Het |
Gpr63 |
T |
A |
4: 25,007,952 (GRCm39) |
D225E |
probably benign |
Het |
Grb14 |
T |
A |
2: 64,745,078 (GRCm39) |
K93N |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Kif28 |
C |
T |
1: 179,527,847 (GRCm39) |
G768D |
probably damaging |
Het |
Krt79 |
A |
T |
15: 101,839,875 (GRCm39) |
D373E |
probably benign |
Het |
Mro |
G |
A |
18: 74,009,893 (GRCm39) |
S187N |
probably benign |
Het |
Ms4a14 |
G |
T |
19: 11,280,421 (GRCm39) |
D712E |
possibly damaging |
Het |
Ndufaf1 |
T |
C |
2: 119,490,893 (GRCm39) |
T56A |
possibly damaging |
Het |
Nell2 |
A |
T |
15: 95,127,091 (GRCm39) |
D761E |
probably damaging |
Het |
Numb |
A |
G |
12: 83,854,979 (GRCm39) |
F116L |
probably damaging |
Het |
Or3a1 |
T |
A |
11: 74,225,806 (GRCm39) |
M84L |
probably benign |
Het |
Or4c114 |
A |
G |
2: 88,905,079 (GRCm39) |
Y119H |
probably damaging |
Het |
Or5an11 |
A |
T |
19: 12,245,773 (GRCm39) |
M60L |
possibly damaging |
Het |
Or6c66 |
T |
A |
10: 129,461,876 (GRCm39) |
D18V |
probably damaging |
Het |
Or8k27 |
A |
G |
2: 86,275,660 (GRCm39) |
L222P |
probably damaging |
Het |
Or9g20 |
T |
C |
2: 85,630,492 (GRCm39) |
N41D |
probably damaging |
Het |
Otog |
A |
C |
7: 45,898,428 (GRCm39) |
N182T |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Padi6 |
A |
T |
4: 140,458,521 (GRCm39) |
V457E |
probably damaging |
Het |
Pex16 |
G |
A |
2: 92,207,875 (GRCm39) |
R109H |
possibly damaging |
Het |
Phactr1 |
T |
C |
13: 43,288,695 (GRCm39) |
|
probably benign |
Het |
Phf20 |
G |
A |
2: 156,109,417 (GRCm39) |
E255K |
probably damaging |
Het |
Pim1 |
A |
G |
17: 29,710,457 (GRCm39) |
|
probably benign |
Het |
Prr23a2 |
T |
A |
9: 98,739,229 (GRCm39) |
Y196N |
probably damaging |
Het |
Prune2 |
A |
T |
19: 16,981,023 (GRCm39) |
N60I |
probably damaging |
Het |
Ptprb |
T |
A |
10: 116,189,776 (GRCm39) |
Y1812N |
probably damaging |
Het |
Rab11fip4 |
A |
G |
11: 79,581,541 (GRCm39) |
Y512C |
possibly damaging |
Het |
Resf1 |
G |
T |
6: 149,227,958 (GRCm39) |
E335* |
probably null |
Het |
Rft1 |
T |
C |
14: 30,388,739 (GRCm39) |
V221A |
probably benign |
Het |
Tacr2 |
T |
C |
10: 62,097,276 (GRCm39) |
M252T |
probably damaging |
Het |
Tgfbrap1 |
A |
G |
1: 43,115,025 (GRCm39) |
I25T |
probably benign |
Het |
Th |
A |
G |
7: 142,449,177 (GRCm39) |
F191S |
probably damaging |
Het |
Trim3 |
C |
A |
7: 105,267,554 (GRCm39) |
R275L |
probably benign |
Het |
Trpm3 |
A |
G |
19: 22,862,705 (GRCm39) |
|
probably null |
Het |
Wars1 |
A |
T |
12: 108,848,706 (GRCm39) |
D80E |
probably benign |
Het |
Wdr90 |
T |
A |
17: 26,064,572 (GRCm39) |
Y1806F |
probably damaging |
Het |
Zfp644 |
A |
T |
5: 106,782,735 (GRCm39) |
I1182N |
possibly 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 |
|
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 |
|
R6498:Actn2
|
UTSW |
13 |
12,291,359 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TTAGATGCCTCCCGTTTGATCG -3'
(R):5'- CTGCATTGACCAAGCATATGC -3'
Sequencing Primer
(F):5'- ATCGTGCAAGTGACTGCTCAG -3'
(R):5'- GCGAGACTGGTACTTATCACTAACG -3'
|
Posted On |
2016-08-04 |