Incidental Mutation 'R2148:Actn2'
ID 234036
Institutional Source Beutler Lab
Gene Symbol Actn2
Ensembl Gene ENSMUSG00000052374
Gene Name actinin alpha 2
Synonyms 1110008F24Rik
MMRRC Submission 040151-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.622) question?
Stock # R2148 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 12284312-12355613 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12315835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 228 (M228K)
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: M228K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067708
Gene: ENSMUSG00000052374
AA Change: M228K

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 damaging
Transcript: ENSMUST00000168193
AA Change: M228K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129609
Gene: ENSMUSG00000052374
AA Change: M228K

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: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Abca13 A G 11: 9,565,764 (GRCm39) Y4796C probably damaging Het
Agbl1 T G 7: 76,064,465 (GRCm39) probably null Het
Ahi1 T G 10: 20,846,875 (GRCm39) V435G possibly damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgap6 A G X: 167,579,496 (GRCm39) T94A probably benign Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
Bcor G A X: 11,923,862 (GRCm39) A578V possibly damaging Het
Bop1 A G 15: 76,339,487 (GRCm39) V286A probably damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cacna1a A T 8: 85,356,304 (GRCm39) Q1887L possibly damaging Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Chl1 T C 6: 103,692,362 (GRCm39) probably null Het
Cnot2 A G 10: 116,342,185 (GRCm39) I173T probably benign Het
Cntnap5b T A 1: 100,311,199 (GRCm39) I564N probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dcaf8l T C X: 88,449,883 (GRCm39) D82G possibly damaging Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Dgkd T G 1: 87,809,643 (GRCm39) N110K probably damaging Het
Dhx8 A T 11: 101,629,203 (GRCm39) R198* probably null Het
Dnah8 A T 17: 30,956,232 (GRCm39) I2071F probably damaging Het
Dsc3 C T 18: 20,098,695 (GRCm39) R828Q probably damaging Het
Fbxl4 T C 4: 22,427,333 (GRCm39) F525L possibly damaging Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gpatch1 A G 7: 34,998,701 (GRCm39) V343A probably benign Het
Gpr139 A G 7: 118,744,192 (GRCm39) V131A probably benign Het
Hamp T C 7: 30,642,137 (GRCm39) T34A possibly damaging Het
Homer2 T G 7: 81,274,043 (GRCm39) D51A possibly damaging Het
Hspa1l C T 17: 35,196,366 (GRCm39) A135V probably damaging Het
Igsf10 A G 3: 59,243,998 (GRCm39) M112T possibly damaging Het
Ikbkb A T 8: 23,172,761 (GRCm39) L153Q probably damaging Het
Kif19a A T 11: 114,671,594 (GRCm39) I158F probably damaging Het
L1cam A T X: 72,904,747 (GRCm39) F536Y probably damaging Het
Lamb3 T C 1: 193,010,212 (GRCm39) V275A probably benign Het
Lhx1 A T 11: 84,410,647 (GRCm39) S226T probably benign Het
Llcfc1 G A 6: 41,662,155 (GRCm39) G53D possibly damaging Het
Loxl4 A G 19: 42,592,631 (GRCm39) probably null Het
Magee1 A T X: 104,166,564 (GRCm39) D783V probably damaging Het
Mak T C 13: 41,195,513 (GRCm39) K400R probably benign Het
Mgat4c T C 10: 102,224,790 (GRCm39) F335L probably benign Het
Mgat4f T A 1: 134,318,251 (GRCm39) M341K probably damaging Het
Mospd2 A G X: 163,739,473 (GRCm39) probably null Het
Mtor T C 4: 148,540,469 (GRCm39) F245L possibly damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myo5a T A 9: 75,087,429 (GRCm39) L1095H probably damaging Het
Nlrp1a T A 11: 71,013,733 (GRCm39) K506* probably null Het
Or5d18 C A 2: 87,864,943 (GRCm39) C180F probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Phkb A G 8: 86,744,115 (GRCm39) D588G probably damaging Het
Pkd1l2 A T 8: 117,783,064 (GRCm39) I752N probably damaging Het
Pkhd1 C A 1: 20,484,444 (GRCm39) probably null Het
Plod3 C T 5: 137,016,627 (GRCm39) R30* probably null Het
Ppfia4 T C 1: 134,240,372 (GRCm39) I591V probably benign Het
Prickle2 A G 6: 92,402,652 (GRCm39) L112P probably damaging Het
Ptgs2 G T 1: 149,981,465 (GRCm39) A583S probably benign Het
Pycr2 T C 1: 180,734,413 (GRCm39) V231A probably damaging Het
Ralgapa2 T C 2: 146,273,807 (GRCm39) D540G probably benign Het
Rasal1 T A 5: 120,800,096 (GRCm39) I150N probably damaging Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Sacs T C 14: 61,410,827 (GRCm39) L34P probably damaging Het
Sema3d A G 5: 12,534,926 (GRCm39) Y106C probably damaging Het
Serpinb8 T A 1: 107,533,657 (GRCm39) D237E probably benign Het
Slc19a2 T C 1: 164,089,657 (GRCm39) W158R probably damaging Het
Sorbs1 A T 19: 40,365,268 (GRCm39) F172I possibly damaging Het
Spaca7 A T 8: 12,636,447 (GRCm39) D91V probably damaging Het
Tead3 A G 17: 28,552,638 (GRCm39) F187L probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tmem132c T A 5: 127,540,026 (GRCm39) W351R probably damaging Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Trap1 T C 16: 3,878,624 (GRCm39) D236G probably damaging Het
Trim45 T A 3: 100,839,360 (GRCm39) L754* probably null Het
Tubgcp5 A G 7: 55,449,259 (GRCm39) E152G probably damaging Het
Uaca A T 9: 60,776,961 (GRCm39) L447F probably damaging Het
Vps51 A G 19: 6,118,164 (GRCm39) V777A probably benign Het
Wdr11 A G 7: 129,230,807 (GRCm39) probably null Het
Zfp462 T A 4: 55,013,670 (GRCm39) S1879T probably benign Het
Zfr2 T G 10: 81,077,950 (GRCm39) V259G probably benign 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
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
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'- GGCAGAGCCTTGTCAGAATC -3'
(R):5'- ACATCATGTGAGGTGTGGC -3'

Sequencing Primer
(F):5'- GCAGAGCCTTGTCAGAATCCTAAG -3'
(R):5'- CCATGTCTCATAAGAAGGAACGTTG -3'
Posted On 2014-10-01