Incidental Mutation 'R6707:Actg2'
ID 528974
Institutional Source Beutler Lab
Gene Symbol Actg2
Ensembl Gene ENSMUSG00000059430
Gene Name actin, gamma 2, smooth muscle, enteric
Synonyms SMGA, Acta3, Act-4, Act4
MMRRC Submission 044825-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6707 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 83489891-83513233 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 83490076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 341 (W341*)
Ref Sequence ENSEMBL: ENSMUSP00000113552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075161] [ENSMUST00000121731]
AlphaFold P63268
Predicted Effect probably null
Transcript: ENSMUST00000075161
AA Change: W341*
SMART Domains Protein: ENSMUSP00000074658
Gene: ENSMUSG00000059430
AA Change: W341*

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Predicted Effect probably null
Transcript: ENSMUST00000121731
AA Change: W341*
SMART Domains Protein: ENSMUSP00000113552
Gene: ENSMUSG00000059430
AA Change: W341*

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Meta Mutation Damage Score 0.9712 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T C 10: 106,920,783 (GRCm39) Y109C probably damaging Het
Adam29 C T 8: 56,325,135 (GRCm39) G440R probably damaging Het
Arfgef3 T C 10: 18,496,903 (GRCm39) D1153G probably benign Het
Arhgef28 T C 13: 98,211,624 (GRCm39) T120A possibly damaging Het
Arhgef28 G T 13: 98,073,224 (GRCm39) Q1371K probably damaging Het
BC051665 A T 13: 60,932,222 (GRCm39) D122E probably benign Het
Boc A T 16: 44,320,979 (GRCm39) I227N possibly damaging Het
Clca3b T A 3: 144,550,288 (GRCm39) Q219L probably benign Het
Cplane1 G A 15: 8,252,606 (GRCm39) V1943M probably benign Het
Cyp2c66 T A 19: 39,174,944 (GRCm39) F448Y probably damaging Het
Ddx5 A G 11: 106,673,058 (GRCm39) M489T probably benign Het
Dnm1 T C 2: 32,226,253 (GRCm39) D312G probably null Het
Ecpas T A 4: 58,879,101 (GRCm39) I63L possibly damaging Het
Eqtn T C 4: 94,796,056 (GRCm39) D215G probably benign Het
Evi5l A T 8: 4,256,322 (GRCm39) T706S probably benign Het
Gtf2f1 T C 17: 57,314,770 (GRCm39) E90G probably benign Het
Hpx A T 7: 105,244,682 (GRCm39) S168T probably benign Het
Ipo4 C A 14: 55,866,361 (GRCm39) V773L possibly damaging Het
Ireb2 C T 9: 54,811,245 (GRCm39) T716I probably damaging Het
Klhl21 A G 4: 152,096,784 (GRCm39) D350G possibly damaging Het
Myh13 A T 11: 67,241,086 (GRCm39) N821I probably damaging Het
Nipbl G T 15: 8,354,043 (GRCm39) T1698K probably benign Het
Nod2 A G 8: 89,391,817 (GRCm39) H686R probably benign Het
Ntf3 A G 6: 126,141,691 (GRCm39) probably null Het
Or6c215 G T 10: 129,637,689 (GRCm39) A235D probably damaging Het
Or6c69 T C 10: 129,747,608 (GRCm39) T180A probably benign Het
Parp9 A T 16: 35,768,303 (GRCm39) H161L probably damaging Het
Pkhd1l1 A G 15: 44,392,539 (GRCm39) N1625D probably benign Het
Rdx T C 9: 51,974,954 (GRCm39) F30S probably damaging Het
Smo T A 6: 29,736,173 (GRCm39) V55E probably benign Het
Sox9 C A 11: 112,673,698 (GRCm39) N96K probably damaging Het
Spp2 T G 1: 88,345,016 (GRCm39) probably null Het
Tex46 A G 4: 136,340,161 (GRCm39) N82S probably benign Het
Timm22 C T 11: 76,298,151 (GRCm39) L41F possibly damaging Het
Tmem30a A T 9: 79,681,547 (GRCm39) Y207* probably null Het
Tmem70 T C 1: 16,747,531 (GRCm39) V216A probably damaging Het
Tspan18 T C 2: 93,040,302 (GRCm39) N151S probably benign Het
Vmn2r90 T C 17: 17,948,364 (GRCm39) C537R probably damaging Het
Vps50 A G 6: 3,545,583 (GRCm39) Y339C probably damaging Het
Zp2 C T 7: 119,733,145 (GRCm39) G599R possibly damaging Het
Other mutations in Actg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Actg2 APN 6 83,500,157 (GRCm39) missense probably damaging 1.00
PIT4508001:Actg2 UTSW 6 83,489,989 (GRCm39) missense possibly damaging 0.92
R0309:Actg2 UTSW 6 83,496,896 (GRCm39) missense probably damaging 1.00
R0319:Actg2 UTSW 6 83,497,725 (GRCm39) missense probably damaging 1.00
R1253:Actg2 UTSW 6 83,499,869 (GRCm39) missense probably damaging 1.00
R1619:Actg2 UTSW 6 83,500,169 (GRCm39) missense probably damaging 1.00
R1677:Actg2 UTSW 6 83,499,801 (GRCm39) missense possibly damaging 0.92
R2512:Actg2 UTSW 6 83,503,829 (GRCm39) missense probably damaging 1.00
R4127:Actg2 UTSW 6 83,499,866 (GRCm39) missense possibly damaging 0.86
R4195:Actg2 UTSW 6 83,500,155 (GRCm39) missense probably damaging 1.00
R5165:Actg2 UTSW 6 83,503,814 (GRCm39) missense probably benign 0.22
R5661:Actg2 UTSW 6 83,497,754 (GRCm39) missense probably damaging 0.98
R6030:Actg2 UTSW 6 83,493,346 (GRCm39) missense probably damaging 1.00
R6030:Actg2 UTSW 6 83,493,346 (GRCm39) missense probably damaging 1.00
R7069:Actg2 UTSW 6 83,497,745 (GRCm39) missense probably damaging 1.00
R7763:Actg2 UTSW 6 83,504,350 (GRCm39) missense probably damaging 1.00
R8982:Actg2 UTSW 6 83,497,697 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- AATGATCTGTGGCTGGTGAC -3'
(R):5'- CGGGCTAAGAAGATTTCTGGTTTC -3'

Sequencing Primer
(F):5'- ACAGCAGTCTTGTGGGGATCC -3'
(R):5'- CTAAGAAGATTTCTGGTTTCTGGTCC -3'
Posted On 2018-07-24