Incidental Mutation 'R5661:Actg2'
ID 444084
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 043304-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5661 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 83489891-83513233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83497754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 166 (I166T)
Ref Sequence ENSEMBL: ENSMUSP00000121577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075161] [ENSMUST00000121731] [ENSMUST00000141904] [ENSMUST00000152029] [ENSMUST00000205926]
AlphaFold P63268
Predicted Effect probably benign
Transcript: ENSMUST00000075161
AA Change: I166T

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000074658
Gene: ENSMUSG00000059430
AA Change: I166T

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121731
AA Change: I166T

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113552
Gene: ENSMUSG00000059430
AA Change: I166T

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124933
Predicted Effect probably benign
Transcript: ENSMUST00000141904
AA Change: I166T

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000120936
Gene: ENSMUSG00000059430
AA Change: I166T

DomainStartEndE-ValueType
ACTIN 6 270 4.78e-116 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000152029
AA Change: I166T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121577
Gene: ENSMUSG00000059430
AA Change: I166T

DomainStartEndE-ValueType
ACTIN 6 195 1.09e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205926
AA Change: I93T

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.9564 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (57/59)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,231,618 (GRCm39) E273G probably benign Het
Arhgap15 G A 2: 44,212,739 (GRCm39) R403H possibly damaging Het
Arhgef26 T C 3: 62,285,075 (GRCm39) probably benign Het
Avl9 A T 6: 56,702,087 (GRCm39) R81* probably null Het
Brd3 G A 2: 27,351,584 (GRCm39) T223I possibly damaging Het
Cacna2d4 T C 6: 119,320,492 (GRCm39) M890T probably benign Het
Carm1 A G 9: 21,498,295 (GRCm39) D433G probably benign Het
Ccdc40 A G 11: 119,128,753 (GRCm39) K427E probably benign Het
Ccdc80 T C 16: 44,947,808 (GRCm39) Y929H probably damaging Het
Ccr9 A C 9: 123,609,164 (GRCm39) Y282S probably benign Het
Det1 C T 7: 78,492,958 (GRCm39) E349K probably damaging Het
Enpep T A 3: 129,070,406 (GRCm39) N834Y probably damaging Het
Epha7 A T 4: 28,946,217 (GRCm39) probably null Het
Fap A T 2: 62,367,307 (GRCm39) probably benign Het
Foxn4 A G 5: 114,411,053 (GRCm39) C23R probably benign Het
Gad1-ps T C 10: 99,280,901 (GRCm39) noncoding transcript Het
Gli2 C A 1: 118,781,032 (GRCm39) E238* probably null Het
Gm20939 C A 17: 95,183,207 (GRCm39) H148N probably damaging Het
Gnl1 T C 17: 36,293,447 (GRCm39) Y211H probably benign Het
Gpat3 A T 5: 101,033,808 (GRCm39) K221* probably null Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hnrnph1 A T 11: 50,275,507 (GRCm39) Q415L probably benign Het
Kansl3 T C 1: 36,388,038 (GRCm39) E383G possibly damaging Het
Kdm5b T C 1: 134,526,811 (GRCm39) V311A probably benign Het
Lipk T A 19: 34,009,727 (GRCm39) M215K probably benign Het
Madd A G 2: 90,984,778 (GRCm39) probably null Het
Meltf A G 16: 31,700,744 (GRCm39) E88G possibly damaging Het
Mis18bp1 A T 12: 65,195,626 (GRCm39) S713T probably benign Het
Mocos T A 18: 24,799,052 (GRCm39) probably null Het
Msto1 T A 3: 88,820,192 (GRCm39) D88V possibly damaging Het
Myo5a A G 9: 75,074,488 (GRCm39) Y799C probably benign Het
Nectin4 T A 1: 171,212,738 (GRCm39) L357H probably damaging Het
Or4p22 G A 2: 88,317,441 (GRCm39) V122M probably damaging Het
Or6c2 A T 10: 129,362,618 (GRCm39) H174L probably benign Het
Pax2 A G 19: 44,779,161 (GRCm39) N179S probably damaging Het
Pcdhac2 C A 18: 37,278,499 (GRCm39) T493K probably damaging Het
Pgk2 G T 17: 40,518,287 (GRCm39) C380* probably null Het
Pi4k2b G A 5: 52,900,906 (GRCm39) probably null Het
Plcb3 A G 19: 6,940,588 (GRCm39) V416A probably damaging Het
Pom121l2 G A 13: 22,168,425 (GRCm39) G899R possibly damaging Het
Ppp4r1 T C 17: 66,110,963 (GRCm39) probably null Het
Prkdc G A 16: 15,628,634 (GRCm39) E3460K possibly damaging Het
Psmb3 A G 11: 97,597,659 (GRCm39) E75G possibly damaging Het
Retnlb C T 16: 48,638,429 (GRCm39) T50I probably benign Het
Sec16a A G 2: 26,329,649 (GRCm39) S789P probably benign Het
Sec24d C T 3: 123,136,734 (GRCm39) T489I probably damaging Het
Sec24d T C 3: 123,136,791 (GRCm39) M508T possibly damaging Het
Slc5a8 C T 10: 88,755,290 (GRCm39) L466F possibly damaging Het
Terf1 T A 1: 15,889,888 (GRCm39) V221E probably damaging Het
Trak1 A G 9: 121,272,703 (GRCm39) N187S possibly damaging Het
Trappc11 T A 8: 47,965,642 (GRCm39) D528V probably damaging Het
Tut4 A G 4: 108,370,384 (GRCm39) D761G probably benign Het
Vmn1r170 A G 7: 23,306,231 (GRCm39) N211S possibly damaging Het
Zfpm2 G A 15: 40,959,467 (GRCm39) W50* probably null 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
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'- CTTCGGGTCCTAGATGAGATTG -3'
(R):5'- CAAGTGTCCCTTACCACGTC -3'

Sequencing Primer
(F):5'- AGATGAGATTGGATTTTGAGTTCAAC -3'
(R):5'- ACCACGTCTGTATTTCAAGGAATCC -3'
Posted On 2016-11-09