Incidental Mutation 'R1619:Actg2'
ID 174513
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 039656-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1619 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 83489891-83513233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83500169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 116 (N116I)
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: N116I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074658
Gene: ENSMUSG00000059430
AA Change: N116I

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121731
AA Change: N116I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113552
Gene: ENSMUSG00000059430
AA Change: N116I

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124933
Predicted Effect probably damaging
Transcript: ENSMUST00000141904
AA Change: N116I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120936
Gene: ENSMUSG00000059430
AA Change: N116I

DomainStartEndE-ValueType
ACTIN 6 270 4.78e-116 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000152029
AA Change: N116I

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121577
Gene: ENSMUSG00000059430
AA Change: N116I

DomainStartEndE-ValueType
ACTIN 6 195 1.09e-37 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000205926
AA Change: N34I

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.1%
  • 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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A T 10: 79,844,889 (GRCm39) H1537L probably damaging Het
Actn1 G A 12: 80,219,796 (GRCm39) H692Y probably damaging Het
Adamts6 C T 13: 104,449,285 (GRCm39) P36S probably benign Het
Agr3 G A 12: 35,997,858 (GRCm39) probably null Het
Ank3 T C 10: 69,715,805 (GRCm39) V500A probably damaging Het
BC051019 T A 7: 109,317,269 (GRCm39) D141V probably damaging Het
Bco1 T C 8: 117,835,454 (GRCm39) F135S probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Ccdc42 A G 11: 68,485,115 (GRCm39) K210E probably damaging Het
Cckar A T 5: 53,857,409 (GRCm39) W263R probably damaging Het
Cela2a A G 4: 141,553,252 (GRCm39) probably null Het
Cep97 A T 16: 55,748,159 (GRCm39) N90K probably damaging Het
Ces2g A T 8: 105,693,984 (GRCm39) Q440L probably damaging Het
Chchd6 G T 6: 89,396,736 (GRCm39) T225K possibly damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Chrna5 A G 9: 54,911,649 (GRCm39) T46A probably benign Het
Col16a1 G A 4: 129,992,733 (GRCm39) G1531S probably damaging Het
Col19a1 A T 1: 24,573,172 (GRCm39) V200E unknown Het
Csf2rb A G 15: 78,219,411 (GRCm39) D2G probably damaging Het
Csmd3 G A 15: 47,813,346 (GRCm39) S1062L probably damaging Het
Cul5 G T 9: 53,569,893 (GRCm39) Q113K probably benign Het
Dmwd TAGCCTGGGAA TAGCCTGGGAAGCCTGGGAA 7: 18,814,959 (GRCm39) probably benign Het
Dse T C 10: 34,029,230 (GRCm39) D620G probably damaging Het
Dsg1c A G 18: 20,397,899 (GRCm39) N33S probably benign Het
Epc2 G A 2: 49,439,990 (GRCm39) V803I probably damaging Het
Erap1 T A 13: 74,819,500 (GRCm39) H171Q probably damaging Het
Esrrb T C 12: 86,561,274 (GRCm39) V336A possibly damaging Het
Fech A T 18: 64,595,189 (GRCm39) W300R probably damaging Het
Fgd4 T C 16: 16,241,920 (GRCm39) I635V possibly damaging Het
Galc A T 12: 98,200,563 (GRCm39) N282K probably benign Het
Gpat2 A G 2: 127,270,637 (GRCm39) Y95C probably benign Het
Grm2 T A 9: 106,524,670 (GRCm39) I682F probably damaging Het
Hdac10 G T 15: 89,010,878 (GRCm39) A241D probably damaging Het
Helz T A 11: 107,527,105 (GRCm39) C182* probably null Het
Ift140 A G 17: 25,307,839 (GRCm39) Y978C probably damaging Het
Intu T A 3: 40,652,061 (GRCm39) C839* probably null Het
Jmjd1c T C 10: 67,055,654 (GRCm39) V358A probably benign Het
Kif26b A G 1: 178,744,043 (GRCm39) S1380G probably benign Het
Lrp1b A G 2: 40,587,601 (GRCm39) S116P unknown Het
Lrrc2 T A 9: 110,790,041 (GRCm39) S99R probably benign Het
Mrpl48 G A 7: 100,195,482 (GRCm39) probably benign Het
Mup9 A G 4: 60,377,878 (GRCm39) probably benign Het
Nap1l1 G A 10: 111,329,240 (GRCm39) V285I possibly damaging Het
Nepro A G 16: 44,547,391 (GRCm39) D36G probably benign Het
Nkain4 A G 2: 180,577,794 (GRCm39) F187L probably damaging Het
Nobox A T 6: 43,284,401 (GRCm39) C82S possibly damaging Het
Ntn4 C A 10: 93,480,596 (GRCm39) Q70K probably damaging Het
Or13j1 A G 4: 43,706,292 (GRCm39) I92T probably damaging Het
Or1e26 A T 11: 73,480,118 (GRCm39) W149R probably damaging Het
Or4k37 A G 2: 111,159,306 (GRCm39) I181V probably benign Het
Or51a43 T C 7: 103,717,738 (GRCm39) R167G probably damaging Het
Or5b122 T A 19: 13,562,978 (GRCm39) F103L probably benign Het
Or9r3 A G 10: 129,948,548 (GRCm39) I37T possibly damaging Het
Pappa A G 4: 65,094,466 (GRCm39) E497G probably damaging Het
Pard3 C A 8: 128,106,983 (GRCm39) T569K probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcdh10 A G 3: 45,334,747 (GRCm39) N354D possibly damaging Het
Pdgfc T C 3: 81,082,194 (GRCm39) V129A probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Phf20l1 A T 15: 66,487,108 (GRCm39) H407L possibly damaging Het
Phip A T 9: 82,753,502 (GRCm39) D1747E probably benign Het
Pkd1l1 A G 11: 8,900,413 (GRCm39) S43P probably damaging Het
Plekhg2 T C 7: 28,067,846 (GRCm39) E202G probably damaging Het
Rapsn A G 2: 90,873,504 (GRCm39) D270G possibly damaging Het
Rims2 A C 15: 39,370,382 (GRCm39) S939R probably damaging Het
Ripor3 T C 2: 167,822,765 (GRCm39) D932G probably damaging Het
Rtp2 A T 16: 23,749,421 (GRCm39) W30R probably damaging Het
Scgb2b27 A T 7: 33,711,557 (GRCm39) D97E probably benign Het
Slc25a46 T C 18: 31,716,542 (GRCm39) N320S probably benign Het
Slc9b1 A G 3: 135,060,765 (GRCm39) probably null Het
Socs4 T A 14: 47,527,740 (GRCm39) M225K possibly damaging Het
Spata31d1a A T 13: 59,850,247 (GRCm39) L627* probably null Het
Srcin1 A G 11: 97,416,307 (GRCm39) L975P probably damaging Het
Stard3 T A 11: 98,267,435 (GRCm39) probably null Het
Susd2 G T 10: 75,473,878 (GRCm39) S572R possibly damaging Het
Tll1 C A 8: 64,509,307 (GRCm39) A568S probably benign Het
Tmem132a C G 19: 10,839,062 (GRCm39) G460A probably damaging Het
Trim62 A G 4: 128,803,281 (GRCm39) K444E probably damaging Het
Trpm3 A G 19: 22,689,271 (GRCm39) T67A probably damaging Het
Ttc6 T C 12: 57,784,454 (GRCm39) M1841T possibly damaging Het
Ulk2 A T 11: 61,672,572 (GRCm39) V922D probably damaging Het
Vmn2r38 C A 7: 9,078,532 (GRCm39) V617L probably damaging Het
Xkr6 G A 14: 64,056,766 (GRCm39) V226M probably benign Het
Zfp940 G A 7: 29,544,962 (GRCm39) A315V possibly damaging Het
Zfr C A 15: 12,150,473 (GRCm39) T480K 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
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'- TGAGAGCACAGCCTGAATAGCAAC -3'
(R):5'- AGACTCCATGTCCACCAGAGATTCC -3'

Sequencing Primer
(F):5'- GCAAGAACTATGCCAGTTCAATG -3'
(R):5'- AGAGATTCCCCAGGGCTGAC -3'
Posted On 2014-04-24