Incidental Mutation 'R7094:Actn2'
ID |
550374 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Actn2
|
Ensembl Gene |
ENSMUSG00000052374 |
Gene Name |
actinin alpha 2 |
Synonyms |
1110008F24Rik |
MMRRC Submission |
045187-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.622)
|
Stock # |
R7094 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
12284312-12355613 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 12324543 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 100
(V100A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064204]
[ENSMUST00000168193]
|
AlphaFold |
Q9JI91 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064204
AA Change: V100A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000067708 Gene: ENSMUSG00000052374 AA Change: V100A
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: V100A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129609 Gene: ENSMUSG00000052374 AA Change: V100A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (59/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,248,610 (GRCm39) |
I2786F |
probably damaging |
Het |
Actl6a |
A |
T |
3: 32,760,487 (GRCm39) |
|
probably benign |
Het |
Arfgef3 |
G |
T |
10: 18,522,187 (GRCm39) |
A613E |
probably damaging |
Het |
Atf6b |
G |
A |
17: 34,872,790 (GRCm39) |
|
probably null |
Het |
Bub1 |
T |
A |
2: 127,663,681 (GRCm39) |
E240V |
probably null |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Ccdc141 |
C |
A |
2: 76,871,797 (GRCm39) |
R829L |
possibly damaging |
Het |
Ccdc85c |
GCCGCCGCCGCCAGCGCCCCCCGCCGCCGCCAGCGCC |
GCCGCCGCCGCCAGCGCC |
12: 108,240,877 (GRCm39) |
|
probably null |
Het |
Cd209g |
T |
C |
8: 4,186,790 (GRCm39) |
F112L |
possibly damaging |
Het |
Cebpe |
C |
T |
14: 54,948,060 (GRCm39) |
R261H |
probably damaging |
Het |
Cfap100 |
T |
C |
6: 90,390,436 (GRCm39) |
E68G |
|
Het |
Chd9 |
A |
G |
8: 91,716,189 (GRCm39) |
N921S |
unknown |
Het |
Chil6 |
T |
C |
3: 106,311,486 (GRCm39) |
N98S |
probably damaging |
Het |
Clip1 |
T |
C |
5: 123,761,333 (GRCm39) |
K734E |
probably benign |
Het |
Cracd |
C |
T |
5: 77,006,879 (GRCm39) |
P1080L |
unknown |
Het |
Cyp11b2 |
A |
G |
15: 74,725,507 (GRCm39) |
F204S |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,453,482 (GRCm39) |
T4418A |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,077,184 (GRCm39) |
V649A |
probably benign |
Het |
Ergic3 |
G |
A |
2: 155,858,683 (GRCm39) |
V270M |
possibly damaging |
Het |
Eva1a |
C |
T |
6: 82,069,024 (GRCm39) |
T117I |
probably damaging |
Het |
Fat4 |
G |
A |
3: 38,944,023 (GRCm39) |
G972D |
probably damaging |
Het |
Gm14412 |
A |
T |
2: 177,009,138 (GRCm39) |
N39K |
probably damaging |
Het |
Gm5565 |
T |
C |
5: 146,095,084 (GRCm39) |
T221A |
probably benign |
Het |
Gnptab |
T |
G |
10: 88,215,366 (GRCm39) |
V29G |
possibly damaging |
Het |
Grem2 |
T |
C |
1: 174,664,555 (GRCm39) |
Y98C |
probably damaging |
Het |
Grik2 |
A |
T |
10: 49,232,012 (GRCm39) |
I506N |
possibly damaging |
Het |
Has2 |
T |
A |
15: 56,545,017 (GRCm39) |
Y195F |
probably damaging |
Het |
Kics2 |
A |
G |
10: 121,576,098 (GRCm39) |
Y73C |
possibly damaging |
Het |
Lars2 |
T |
C |
9: 123,288,650 (GRCm39) |
L832P |
probably damaging |
Het |
Lipo5 |
T |
A |
19: 33,446,249 (GRCm39) |
E49D |
probably damaging |
Het |
Macc1 |
T |
A |
12: 119,414,126 (GRCm39) |
Y767* |
probably null |
Het |
Map2 |
G |
T |
1: 66,451,886 (GRCm39) |
E259* |
probably null |
Het |
Mcm9 |
T |
C |
10: 53,496,253 (GRCm39) |
D310G |
probably damaging |
Het |
Mink1 |
C |
A |
11: 70,500,901 (GRCm39) |
|
probably null |
Het |
Mtrr |
T |
C |
13: 68,727,803 (GRCm39) |
T48A |
possibly damaging |
Het |
Nrsn1 |
A |
T |
13: 25,437,724 (GRCm39) |
I68N |
possibly damaging |
Het |
Or1ab2 |
A |
T |
8: 72,863,347 (GRCm39) |
|
probably benign |
Het |
Or4a71 |
A |
T |
2: 89,357,902 (GRCm39) |
I284K |
probably damaging |
Het |
Or51f23b |
A |
G |
7: 102,402,305 (GRCm39) |
M277T |
probably benign |
Het |
Or5p60 |
G |
T |
7: 107,723,840 (GRCm39) |
T210N |
probably benign |
Het |
Or8k36-ps1 |
T |
C |
2: 86,437,672 (GRCm39) |
N81S |
unknown |
Het |
Pcdh17 |
A |
G |
14: 84,684,835 (GRCm39) |
D434G |
probably damaging |
Het |
Rnf213 |
T |
A |
11: 119,328,430 (GRCm39) |
|
probably null |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Sez6l2 |
A |
G |
7: 126,552,096 (GRCm39) |
E121G |
probably damaging |
Het |
Slc35e4 |
T |
C |
11: 3,863,118 (GRCm39) |
S24G |
probably benign |
Het |
Slc39a2 |
G |
T |
14: 52,131,146 (GRCm39) |
|
probably benign |
Het |
Slitrk5 |
C |
T |
14: 111,918,268 (GRCm39) |
P631S |
probably benign |
Het |
Taf2 |
A |
G |
15: 54,923,482 (GRCm39) |
V265A |
probably benign |
Het |
Tas2r106 |
T |
C |
6: 131,655,542 (GRCm39) |
N103S |
probably benign |
Het |
Tgm1 |
T |
C |
14: 55,942,300 (GRCm39) |
T684A |
possibly damaging |
Het |
Tgm7 |
C |
T |
2: 120,929,489 (GRCm39) |
G262S |
probably damaging |
Het |
Tpp2 |
T |
A |
1: 44,008,148 (GRCm39) |
S451T |
probably damaging |
Het |
Trim15 |
T |
C |
17: 37,173,788 (GRCm39) |
Y240C |
probably benign |
Het |
Trio |
A |
T |
15: 27,891,534 (GRCm39) |
C465S |
unknown |
Het |
Ttc22 |
G |
A |
4: 106,493,104 (GRCm39) |
W250* |
probably null |
Het |
Upb1 |
C |
A |
10: 75,274,042 (GRCm39) |
F356L |
probably damaging |
Het |
Vmn2r99 |
T |
A |
17: 19,599,573 (GRCm39) |
M419K |
probably benign |
Het |
Vstm2a |
G |
A |
11: 16,207,990 (GRCm39) |
|
probably benign |
Het |
Zfp820 |
T |
C |
17: 22,038,246 (GRCm39) |
T361A |
probably benign |
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 |
|
R6498:Actn2
|
UTSW |
13 |
12,291,359 (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'- TTAACCAGTAAGCCTGCAGCC -3'
(R):5'- ACATTGGCCTTGAGTGTGTTCC -3'
Sequencing Primer
(F):5'- AGTAAGCCTGCAGCCTGGTG -3'
(R):5'- GAGTGTGTTCCCTTCCAGG -3'
|
Posted On |
2019-05-15 |