Incidental Mutation 'PIT4508001:Actg2'
ID 556223
Institutional Source Beutler Lab
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 # PIT4508001 (G1)
Quality Score 122.008
Status Not validated
Chromosome 6
Chromosomal Location 83489891-83513233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83489989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 370 (I370N)
Ref Sequence ENSEMBL: ENSMUSP00000074658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075161] [ENSMUST00000121731]
AlphaFold P63268
Predicted Effect possibly damaging
Transcript: ENSMUST00000075161
AA Change: I370N

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074658
Gene: ENSMUSG00000059430
AA Change: I370N

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000121731
AA Change: I370N

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113552
Gene: ENSMUSG00000059430
AA Change: I370N

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 90.7%
  • 10x: 84.6%
  • 20x: 71.6%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,176,128 (GRCm39) T1228A probably damaging Het
Ankrd36 A G 11: 5,557,137 (GRCm39) T330A possibly damaging Het
Atrip C T 9: 108,903,057 (GRCm39) A6T possibly damaging Het
Bms1 G A 6: 118,360,767 (GRCm39) R1234C probably benign Het
Cacnb2 A T 2: 14,989,230 (GRCm39) T487S probably benign Het
Cert1 T C 13: 96,767,284 (GRCm39) F478S probably damaging Het
Esco2 A T 14: 66,068,914 (GRCm39) V132E probably damaging Het
Gjb5 A T 4: 127,250,033 (GRCm39) L37Q probably damaging Het
Gm8020 T A 14: 42,324,234 (GRCm39) Y24F Het
H2bc8 CTCGACCATCACGTC CTC 13: 23,755,867 (GRCm39) probably benign Het
H2-Q6 T C 17: 35,644,796 (GRCm39) L195P probably damaging Het
Hc T C 2: 34,874,816 (GRCm39) T1602A probably damaging Het
Hcrtr2 A T 9: 76,153,662 (GRCm39) Y243* probably null Het
Itga3 T C 11: 94,946,719 (GRCm39) H730R probably benign Het
Kif1a A T 1: 92,974,451 (GRCm39) L866Q probably damaging Het
Krt81 A T 15: 101,360,606 (GRCm39) L127Q probably damaging Het
Mdn1 T C 4: 32,719,223 (GRCm39) I2262T probably damaging Het
Mxd3 A T 13: 55,473,707 (GRCm39) D170E probably benign Het
Myh2 A G 11: 67,076,331 (GRCm39) M811V probably benign Het
Naa16 A T 14: 79,606,527 (GRCm39) D335E probably benign Het
Nkd1 A G 8: 89,249,028 (GRCm39) T58A probably benign Het
Ogfrl1 T A 1: 23,409,351 (GRCm39) R292* probably null Het
Or52e2 T A 7: 102,804,520 (GRCm39) M145L probably benign Het
Or5w13 G A 2: 87,524,059 (GRCm39) H56Y probably damaging Het
Pom121l12 A G 11: 14,549,689 (GRCm39) R132G possibly damaging Het
Prss46 A G 9: 110,680,484 (GRCm39) K210E probably damaging Het
Scn8a T C 15: 100,927,573 (GRCm39) Y1351H probably damaging Het
Shisa9 G A 16: 12,085,344 (GRCm39) V318I probably benign Het
Slc41a2 T G 10: 83,090,744 (GRCm39) H480P probably damaging Het
Slc45a1 C A 4: 150,722,892 (GRCm39) A331S probably benign Het
Smg1 A T 7: 117,784,764 (GRCm39) F885I unknown Het
Speer4f1 T C 5: 17,685,412 (GRCm39) S236P unknown Het
Zfp326 A T 5: 106,062,556 (GRCm39) Q475L probably benign Het
Zzef1 T G 11: 72,786,002 (GRCm39) V2058G probably benign Het
Other mutations in Actg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Actg2 APN 6 83,500,157 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- CTTGAAAATCCCTTAGCATTGTCTGTG -3'
(R):5'- TTGAAGCTCCCCAGTATCTGAG -3'

Sequencing Primer
(F):5'- TGAGACACACATGTAGGAGCATCC -3'
(R):5'- TCCCCAGTATCTGAGATCATAGCATG -3'
Posted On 2019-06-07