Incidental Mutation 'R1253:Actg2'
ID 151840
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 039320-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1253 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 83489891-83513233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83499869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 127 (T127I)
Ref Sequence ENSEMBL: ENSMUSP00000120936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075161] [ENSMUST00000121731] [ENSMUST00000141904] [ENSMUST00000152029] [ENSMUST00000205926]
AlphaFold P63268
Predicted Effect probably damaging
Transcript: ENSMUST00000075161
AA Change: T127I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074658
Gene: ENSMUSG00000059430
AA Change: T127I

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121731
AA Change: T127I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113552
Gene: ENSMUSG00000059430
AA Change: T127I

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124933
Predicted Effect probably damaging
Transcript: ENSMUST00000141904
AA Change: T127I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120936
Gene: ENSMUSG00000059430
AA Change: T127I

DomainStartEndE-ValueType
ACTIN 6 270 4.78e-116 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000152029
AA Change: T127I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121577
Gene: ENSMUSG00000059430
AA Change: T127I

DomainStartEndE-ValueType
ACTIN 6 195 1.09e-37 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000205926
AA Change: T54I

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
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
Aph1b T A 9: 66,697,931 (GRCm39) K102* probably null Het
Caskin1 A G 17: 24,724,047 (GRCm39) K945R probably damaging Het
Ccdc137 C A 11: 120,349,005 (GRCm39) A12E probably benign Het
Cdhr1 A G 14: 36,801,582 (GRCm39) M787T probably benign Het
Cic T A 7: 24,990,373 (GRCm39) V1958E probably damaging Het
Col6a6 T A 9: 105,651,502 (GRCm39) I1170F probably null Het
Cyp2c54 T A 19: 40,034,629 (GRCm39) Y347F probably damaging Het
Kntc1 AGTGT AGT 5: 123,948,925 (GRCm39) probably null Het
Large1 T C 8: 73,775,050 (GRCm39) Y220C probably damaging Het
Macf1 A T 4: 123,351,760 (GRCm39) D1592E probably damaging Het
Mtus2 C T 5: 148,240,380 (GRCm39) Q76* probably null Het
Olfm3 A T 3: 114,916,418 (GRCm39) D450V probably damaging Het
Or1l4b T A 2: 37,036,884 (GRCm39) V220D possibly damaging Het
Or4k6 A G 14: 50,475,581 (GRCm39) C254R probably damaging Het
Or5ae1 T A 7: 84,565,917 (GRCm39) I310K probably benign Het
Ormdl1 G A 1: 53,344,681 (GRCm39) R81K possibly damaging Het
Pcdhb12 G A 18: 37,568,874 (GRCm39) V7I possibly damaging Het
Ptprt A G 2: 162,120,146 (GRCm39) I107T probably damaging Het
Rbm27 A C 18: 42,434,839 (GRCm39) D301A probably damaging Het
Rexo2 A T 9: 48,380,232 (GRCm39) I200N probably damaging Het
Rtn4ip1 A T 10: 43,786,867 (GRCm39) I192L probably benign Het
Serpinb9e T C 13: 33,439,102 (GRCm39) F176S possibly damaging Het
Sorcs3 C A 19: 48,195,175 (GRCm39) A186E possibly damaging Het
Spata31 A G 13: 65,069,838 (GRCm39) Y662C probably benign Het
Sphkap G A 1: 83,256,619 (GRCm39) P377S possibly damaging Het
Srrt T C 5: 137,298,598 (GRCm39) K222R probably benign Het
Tas2r129 T C 6: 132,928,999 (GRCm39) I312T probably benign Het
Thbs4 G T 13: 92,913,413 (GRCm39) P169Q probably benign Het
Tmtc3 T C 10: 100,287,252 (GRCm39) M515V probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r92 T A 17: 18,387,028 (GRCm39) N122K probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGTATCCAGCCTGACCATGTTTGC -3'
(R):5'- TTCGAGTAGCACCAGAAGAGCACC -3'

Sequencing Primer
(F):5'- GGCTTGCTATAAACTTGCCACAG -3'
(R):5'- TCAGCACTGTGTAGCAATGC -3'
Posted On 2014-01-29