Incidental Mutation 'R5228:Actn2'
ID 402748
Institutional Source Beutler Lab
Gene Symbol Actn2
Ensembl Gene ENSMUSG00000052374
Gene Name actinin alpha 2
Synonyms 1110008F24Rik
MMRRC Submission 042801-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.622) question?
Stock # R5228 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 12284312-12355613 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 12303545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064204] [ENSMUST00000168193]
AlphaFold Q9JI91
Predicted Effect probably null
Transcript: ENSMUST00000064204
SMART Domains Protein: ENSMUSP00000067708
Gene: ENSMUSG00000052374

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000168193
SMART Domains Protein: ENSMUSP00000129609
Gene: ENSMUSG00000052374

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn G T 4: 156,251,403 (GRCm39) A1864D probably damaging Het
Ahnak2 A G 12: 112,741,820 (GRCm39) S751P probably benign Het
Aifm2 T C 10: 61,568,196 (GRCm39) V201A probably damaging Het
C1rl C T 6: 124,485,427 (GRCm39) A266V probably damaging Het
Clec2h G T 6: 128,651,749 (GRCm39) A153S probably benign Het
Dnah7a T C 1: 53,476,768 (GRCm39) probably null Het
Frmpd1 T C 4: 45,284,322 (GRCm39) S1048P probably damaging Het
Galnt16 A T 12: 80,630,822 (GRCm39) D300V probably damaging Het
Gbp8 G T 5: 105,164,051 (GRCm39) Q416K probably benign Het
Gldn C T 9: 54,242,003 (GRCm39) T319I probably damaging Het
Gli2 T A 1: 118,763,936 (GRCm39) D1405V probably damaging Het
Gtsf2 A G 15: 103,353,042 (GRCm39) Y45H probably damaging Het
Hmcn1 C A 1: 150,522,452 (GRCm39) V3483F probably benign Het
Hspa12b T C 2: 130,984,884 (GRCm39) V385A possibly damaging Het
Ibtk T C 9: 85,608,742 (GRCm39) E390G possibly damaging Het
Inpp4b C G 8: 82,494,744 (GRCm39) P53R probably damaging Het
Ipo7 T A 7: 109,645,969 (GRCm39) C504S probably benign Het
Iws1 A G 18: 32,221,314 (GRCm39) D549G probably damaging Het
Kcnh4 T C 11: 100,637,722 (GRCm39) D645G probably damaging Het
Klhl40 A G 9: 121,606,867 (GRCm39) E9G probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Morc2a T C 11: 3,635,439 (GRCm39) V810A probably damaging Het
Myo1e C A 9: 70,229,640 (GRCm39) probably null Het
N4bp2 T C 5: 65,964,861 (GRCm39) V970A probably benign Het
Pira2 T A 7: 3,847,373 (GRCm39) K105N probably benign Het
Pml G A 9: 58,127,280 (GRCm39) R61C probably damaging Het
Pms2 T C 5: 143,860,415 (GRCm39) L76P probably damaging Het
Rlbp1 T G 7: 79,027,082 (GRCm39) T193P probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGG 11: 3,103,384 (GRCm39) probably benign Homo
Sh3rf2 T C 18: 42,286,246 (GRCm39) S548P possibly damaging Het
Slc4a4 A G 5: 89,304,384 (GRCm39) D609G possibly damaging Het
Slk A T 19: 47,613,771 (GRCm39) I876F probably damaging Het
Tcf20 G A 15: 82,740,156 (GRCm39) P432S probably benign Het
Tenm3 A C 8: 48,689,390 (GRCm39) S2066A probably damaging Het
Topors G C 4: 40,262,367 (GRCm39) L306V probably damaging Het
Trappc9 A T 15: 72,929,844 (GRCm39) S171T probably damaging Het
Ube2m G T 7: 12,769,697 (GRCm39) probably benign Het
Vmn1r37 T C 6: 66,709,282 (GRCm39) *266Q probably null Het
Vmn2r34 T C 7: 7,675,340 (GRCm39) T683A probably damaging Het
Other mutations in Actn2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGAGTGCCTGCTCTCTAGAGAC -3'
(R):5'- GTGCGACTTTGAGATTTCACG -3'

Sequencing Primer
(F):5'- ATAGCCTGACACGGTCCAGAG -3'
(R):5'- CGACTTTGAGATTTCACGTTTATTTG -3'
Posted On 2016-07-22