Incidental Mutation 'R5408:Actn2'
ID 426414
Institutional Source Beutler Lab
Gene Symbol Actn2
Ensembl Gene ENSMUSG00000052374
Gene Name actinin alpha 2
Synonyms 1110008F24Rik
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.622) question?
Stock # R5408 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 12284312-12355613 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12285681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 837 (I837V)
Ref Sequence ENSEMBL: ENSMUSP00000129609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064204] [ENSMUST00000168193] [ENSMUST00000221162]
AlphaFold Q9JI91
Predicted Effect probably benign
Transcript: ENSMUST00000064204
AA Change: I837V

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000067708
Gene: ENSMUSG00000052374
AA Change: I837V

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 benign
Transcript: ENSMUST00000168193
AA Change: I837V

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129609
Gene: ENSMUSG00000052374
AA Change: I837V

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
Predicted Effect probably benign
Transcript: ENSMUST00000221162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222034
Meta Mutation Damage Score 0.1641 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Aldh2 C T 5: 121,708,620 (GRCm39) probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Atp13a1 T C 8: 70,249,490 (GRCm39) V251A probably benign Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cadps T C 14: 12,705,759 (GRCm38) H212R possibly damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Dgkz C A 2: 91,766,168 (GRCm39) G798W possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam171a2 T C 11: 102,328,344 (GRCm39) K805R possibly damaging Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fchsd2 A G 7: 100,920,781 (GRCm39) N462S possibly damaging Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Jup C T 11: 100,267,607 (GRCm39) R572Q probably damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Mapk3 A G 7: 126,363,007 (GRCm39) D253G probably damaging Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Sap18 A T 14: 58,039,431 (GRCm39) M78L probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Slc7a2 G A 8: 41,368,042 (GRCm39) R602K probably damaging Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Uncx A T 5: 139,530,245 (GRCm39) K108* probably null Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Uty A G Y: 1,245,614 (GRCm39) V6A possibly damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp687 T C 3: 94,916,586 (GRCm39) probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E possibly 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
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
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'- AACACTGCTTGTCTCTGGAACTC -3'
(R):5'- GCACACACTGTCTCTGTACC -3'

Sequencing Primer
(F):5'- CCCAGCATTCCTATTGTGAAATGGG -3'
(R):5'- TCTGTACCTCCTCAGGGTGAAG -3'
Posted On 2016-09-01