Incidental Mutation 'R4396:Actn2'
| ID |
325499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actn2
|
| Ensembl Gene |
ENSMUSG00000052374 |
| Gene Name |
actinin alpha 2 |
| Synonyms |
1110008F24Rik |
| MMRRC Submission |
041129-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.622)
|
| Stock # |
R4396 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
12284312-12355613 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12325765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 70
(L70P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064204]
[ENSMUST00000168193]
|
| AlphaFold |
Q9JI91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064204
AA Change: L70P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000067708
Gene: ENSMUSG00000052374
AA Change: L70P
| 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 damaging
Transcript: ENSMUST00000168193
AA Change: L70P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129609
Gene: ENSMUSG00000052374
AA Change: L70P
| 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 |
0.8361 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (52/53) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
C |
7: 119,195,143 (GRCm39) |
F552L |
probably damaging |
Het |
| Btbd7 |
A |
G |
12: 102,751,552 (GRCm39) |
S1071P |
probably benign |
Het |
| Cd200r1 |
T |
A |
16: 44,586,417 (GRCm39) |
W16R |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,863,478 (GRCm39) |
N120D |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,549,947 (GRCm39) |
T317A |
unknown |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,718,361 (GRCm39) |
L1683P |
probably damaging |
Het |
| Dynll1 |
A |
T |
5: 115,438,700 (GRCm39) |
C2S |
probably benign |
Het |
| Elp2 |
T |
A |
18: 24,742,707 (GRCm39) |
S80T |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
| Fzd3 |
A |
G |
14: 65,473,054 (GRCm39) |
I238T |
probably damaging |
Het |
| Galnt7 |
A |
T |
8: 57,991,215 (GRCm39) |
F432I |
probably damaging |
Het |
| Gemin5 |
T |
A |
11: 58,030,375 (GRCm39) |
T817S |
probably benign |
Het |
| Gm5414 |
T |
G |
15: 101,534,101 (GRCm39) |
E294A |
probably damaging |
Het |
| H2-T5 |
C |
A |
17: 36,472,861 (GRCm39) |
|
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Kcnj4 |
C |
A |
15: 79,368,874 (GRCm39) |
A369S |
probably benign |
Het |
| Llgl1 |
T |
C |
11: 60,596,834 (GRCm39) |
V145A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,069,491 (GRCm39) |
D185G |
probably damaging |
Het |
| Mettl2 |
A |
G |
11: 105,017,604 (GRCm39) |
D38G |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mpp4 |
T |
C |
1: 59,183,961 (GRCm39) |
I260V |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,651,220 (GRCm39) |
E1112G |
probably damaging |
Het |
| Mtus2 |
T |
A |
5: 148,140,748 (GRCm39) |
N871K |
possibly damaging |
Het |
| Mylk |
C |
T |
16: 34,732,645 (GRCm39) |
Q642* |
probably null |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Or4f57 |
A |
G |
2: 111,790,560 (GRCm39) |
I286T |
probably damaging |
Het |
| Pdzd2 |
A |
T |
15: 12,387,732 (GRCm39) |
D875E |
probably benign |
Het |
| Piezo1 |
G |
T |
8: 123,225,413 (GRCm39) |
T557K |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,929,291 (GRCm39) |
V49A |
possibly damaging |
Het |
| Pramel6 |
A |
T |
2: 87,338,874 (GRCm39) |
I25F |
probably damaging |
Het |
| Rreb1 |
C |
T |
13: 38,114,419 (GRCm39) |
Q593* |
probably null |
Het |
| Scn8a |
A |
G |
15: 100,870,711 (GRCm39) |
N254S |
probably damaging |
Het |
| Scnn1g |
T |
G |
7: 121,339,650 (GRCm39) |
S150A |
probably benign |
Het |
| Sec24a |
A |
G |
11: 51,605,991 (GRCm39) |
F686L |
possibly damaging |
Het |
| Sirt1 |
T |
C |
10: 63,157,777 (GRCm39) |
T546A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Traf5 |
A |
T |
1: 191,729,806 (GRCm39) |
V415E |
probably benign |
Het |
| Traip |
C |
G |
9: 107,836,686 (GRCm39) |
T110S |
probably benign |
Het |
| Treml2 |
T |
C |
17: 48,615,142 (GRCm39) |
V209A |
probably benign |
Het |
| Trpv5 |
T |
C |
6: 41,634,830 (GRCm39) |
S500G |
probably benign |
Het |
| Usp32 |
G |
A |
11: 84,944,801 (GRCm39) |
L296F |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Zswim1 |
A |
G |
2: 164,667,369 (GRCm39) |
D207G |
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 |
|
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 |
|
|
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'- GCAGTTCTCTCTGTACCCTAGG -3'
(R):5'- TCATAGACCCTCTAGAAGGTTCCAG -3'
Sequencing Primer
(F):5'- CTCGTGACTCAGACTGGAATTACAG -3'
(R):5'- TTCCAGGTGCTGTCCATGAAAAAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation