Incidental Mutation 'IGL01289:Actg2'
ID 72840
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actg2
Ensembl Gene ENSMUSG00000059430
Gene Name actin, gamma 2, smooth muscle, enteric
Synonyms SMGA, Acta3, Act-4, Act4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01289
Quality Score
Status
Chromosome 6
Chromosomal Location 83489891-83513233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83500157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 38 (M38K)
Ref Sequence ENSEMBL: ENSMUSP00000146302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075161] [ENSMUST00000121731] [ENSMUST00000141904] [ENSMUST00000152029] [ENSMUST00000205926]
AlphaFold P63268
Predicted Effect probably damaging
Transcript: ENSMUST00000075161
AA Change: M120K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074658
Gene: ENSMUSG00000059430
AA Change: M120K

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121731
AA Change: M120K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113552
Gene: ENSMUSG00000059430
AA Change: M120K

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124933
Predicted Effect probably damaging
Transcript: ENSMUST00000141904
AA Change: M120K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120936
Gene: ENSMUSG00000059430
AA Change: M120K

DomainStartEndE-ValueType
ACTIN 6 270 4.78e-116 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000152029
AA Change: M120K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121577
Gene: ENSMUSG00000059430
AA Change: M120K

DomainStartEndE-ValueType
ACTIN 6 195 1.09e-37 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000205926
AA Change: M38K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 130,740,350 (GRCm39) M289L probably benign Het
Atp8a2 G A 14: 59,928,910 (GRCm39) A1048V probably benign Het
Cables1 T C 18: 12,077,621 (GRCm39) V583A probably damaging Het
Ccng2 A G 5: 93,421,276 (GRCm39) K262R probably null Het
Cfap206 C A 4: 34,716,469 (GRCm39) S332I probably null Het
Dscam A T 16: 96,445,082 (GRCm39) Y1536* probably null Het
Fam136b-ps T A 15: 31,277,010 (GRCm39) probably benign Het
Fga A G 3: 82,938,552 (GRCm39) Y309C possibly damaging Het
Fgd4 A T 16: 16,302,167 (GRCm39) N129K probably damaging Het
Gbp8 G A 5: 105,165,735 (GRCm39) A306V probably benign Het
Hecw1 T C 13: 14,438,719 (GRCm39) Y888C probably damaging Het
Herc6 G A 6: 57,575,608 (GRCm39) G210R probably damaging Het
Ints7 G A 1: 191,347,890 (GRCm39) R754H probably benign Het
Itga1 T C 13: 115,122,762 (GRCm39) I731M possibly damaging Het
Itpr2 T A 6: 146,014,033 (GRCm39) K2588* probably null Het
Itpr3 T A 17: 27,318,739 (GRCm39) M965K probably damaging Het
Kif22 A G 7: 126,632,645 (GRCm39) V247A probably damaging Het
Lrrc17 T C 5: 21,765,899 (GRCm39) F127S probably damaging Het
Lrriq4 T A 3: 30,704,542 (GRCm39) L190Q probably damaging Het
Mcee T A 7: 64,050,066 (GRCm39) F66I probably damaging Het
Med23 T C 10: 24,778,019 (GRCm39) F789S probably damaging Het
Nmd3 T G 3: 69,631,620 (GRCm39) S25R possibly damaging Het
Npy5r T A 8: 67,134,518 (GRCm39) N92Y possibly damaging Het
Or4a69 A G 2: 89,313,191 (GRCm39) M96T probably benign Het
Rnf224 G T 2: 25,126,259 (GRCm39) D31E possibly damaging Het
Timd2 T C 11: 46,570,499 (GRCm39) E192G probably benign Het
Ttll13 T A 7: 79,910,187 (GRCm39) C777S probably benign Het
Tubgcp3 A G 8: 12,689,625 (GRCm39) L547P probably damaging Het
Usp47 G T 7: 111,662,565 (GRCm39) V236F probably damaging Het
Xirp2 A T 2: 67,343,525 (GRCm39) N1922I probably damaging Het
Zdhhc24 G T 19: 4,928,850 (GRCm39) W25L probably damaging Het
Other mutations in Actg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6707:Actg2 UTSW 6 83,490,076 (GRCm39) nonsense probably null
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
Posted On 2013-10-07