Incidental Mutation 'R1677:Actg2'
ID 188182
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 039713-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1677 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 83489891-83513233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83499801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 150 (T150A)
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: T150A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074658
Gene: ENSMUSG00000059430
AA Change: T150A

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121731
AA Change: T150A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113552
Gene: ENSMUSG00000059430
AA Change: T150A

DomainStartEndE-ValueType
ACTIN 6 376 6.01e-236 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124933
Predicted Effect probably benign
Transcript: ENSMUST00000141904
AA Change: T150A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120936
Gene: ENSMUSG00000059430
AA Change: T150A

DomainStartEndE-ValueType
ACTIN 6 270 4.78e-116 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000152029
AA Change: T150A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121577
Gene: ENSMUSG00000059430
AA Change: T150A

DomainStartEndE-ValueType
ACTIN 6 195 1.09e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205926
AA Change: T77A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Meta Mutation Damage Score 0.7642 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 100% (95/95)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,467,357 (GRCm39) M92K probably benign Het
4931406C07Rik T C 9: 15,212,660 (GRCm39) probably null Het
A430005L14Rik G A 4: 154,045,357 (GRCm39) V129M probably damaging Het
Actn1 A T 12: 80,306,806 (GRCm39) D20E probably benign Het
Alcam C T 16: 52,091,136 (GRCm39) E461K probably damaging Het
Anapc1 G A 2: 128,518,128 (GRCm39) P242L probably benign Het
Ankrd49 A T 9: 14,692,674 (GRCm39) D163E probably benign Het
Atp8b5 G A 4: 43,372,903 (GRCm39) R1149Q possibly damaging Het
Cacnb3 G T 15: 98,540,455 (GRCm39) V328F probably damaging Het
Camk4 T C 18: 33,309,275 (GRCm39) I226T probably damaging Het
Ccdc148 T C 2: 58,892,176 (GRCm39) D172G probably damaging Het
Cdh12 A G 15: 21,520,491 (GRCm39) I319V probably damaging Het
Cenpc1 T C 5: 86,209,857 (GRCm39) probably benign Het
Cfap69 A C 5: 5,632,457 (GRCm39) N15K probably damaging Het
Ckap2l A C 2: 129,127,087 (GRCm39) S364A possibly damaging Het
Clic6 G A 16: 92,324,972 (GRCm39) G36R probably damaging Het
Col6a3 T C 1: 90,749,583 (GRCm39) Y417C probably benign Het
Cstf3 T A 2: 104,494,623 (GRCm39) probably benign Het
Cyp4f39 G A 17: 32,711,304 (GRCm39) A484T probably benign Het
Dnah3 T C 7: 119,527,963 (GRCm39) N3829D probably damaging Het
Dntt C A 19: 41,017,923 (GRCm39) P16T probably benign Het
Dym T A 18: 75,258,583 (GRCm39) I447N probably damaging Het
Elmo1 T C 13: 20,773,841 (GRCm39) V617A probably benign Het
Elovl7 G A 13: 108,419,160 (GRCm39) G264D probably damaging Het
Epha7 T A 4: 28,947,571 (GRCm39) Y610* probably null Het
Fn1 T C 1: 71,636,814 (GRCm39) I178V probably benign Het
Fndc9 T C 11: 46,129,152 (GRCm39) Y224H probably benign Het
Gad1 T C 2: 70,404,521 (GRCm39) V137A probably damaging Het
Gapvd1 A G 2: 34,590,773 (GRCm39) probably null Het
Gbp11 C T 5: 105,475,277 (GRCm39) C357Y probably damaging Het
Gcc1 G A 6: 28,419,163 (GRCm39) A390V probably benign Het
Gm6811 A G 17: 21,314,185 (GRCm39) noncoding transcript Het
Htt A T 5: 34,985,918 (GRCm39) D1063V probably damaging Het
Igfn1 C T 1: 135,898,839 (GRCm39) A576T probably damaging Het
Il12rb2 T C 6: 67,280,485 (GRCm39) Y240C probably damaging Het
Itga3 T C 11: 94,946,585 (GRCm39) D747G probably damaging Het
Kcnip2 A C 19: 45,782,979 (GRCm39) D134E probably damaging Het
Kif2b C A 11: 91,466,798 (GRCm39) R495I probably damaging Het
Lef1 T C 3: 130,993,938 (GRCm39) probably benign Het
Lias C T 5: 65,548,981 (GRCm39) R4C probably damaging Het
Lpcat2 T C 8: 93,591,560 (GRCm39) V68A probably benign Het
Lrrc37 A T 11: 103,505,768 (GRCm39) S2067T probably benign Het
Lrrc8e A T 8: 4,284,190 (GRCm39) K138N probably damaging Het
Map4k5 G A 12: 69,852,082 (GRCm39) H767Y probably benign Het
Mga C A 2: 119,791,333 (GRCm39) T2406K possibly damaging Het
Mtx1 A T 3: 89,116,648 (GRCm39) S418T probably benign Het
Myh7 C T 14: 55,224,973 (GRCm39) M531I probably benign Het
Myorg C T 4: 41,497,947 (GRCm39) R561H probably benign Het
Ncaph2 T A 15: 89,255,427 (GRCm39) M555K probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Ncoa6 T C 2: 155,244,584 (GRCm39) probably benign Het
Nrp2 A G 1: 62,822,479 (GRCm39) S691G probably benign Het
Odad2 T C 18: 7,222,554 (GRCm39) T572A probably benign Het
Odf2l A T 3: 144,845,543 (GRCm39) probably null Het
Or5aq6 T A 2: 86,923,081 (GRCm39) H220L probably benign Het
Pcdh20 A G 14: 88,705,410 (GRCm39) V630A probably damaging Het
Pebp4 T C 14: 70,285,923 (GRCm39) probably null Het
Ppfia3 T A 7: 45,006,090 (GRCm39) M301L probably benign Het
Ppp1r21 C A 17: 88,858,097 (GRCm39) Q203K probably benign Het
Prr23a1 T C 9: 98,725,406 (GRCm39) V256A probably benign Het
Rbfox1 A G 16: 7,110,091 (GRCm39) R150G possibly damaging Het
Rnps1-ps A T 6: 7,982,943 (GRCm39) noncoding transcript Het
Robo3 T C 9: 37,329,005 (GRCm39) R1238G possibly damaging Het
Rp9 T G 9: 22,365,097 (GRCm39) Q35P probably damaging Het
Rsrc1 C A 3: 67,262,808 (GRCm39) A254E probably damaging Het
Shtn1 T A 19: 58,998,222 (GRCm39) K390N probably damaging Het
Sidt2 C T 9: 45,864,517 (GRCm39) V71I probably benign Het
Sirt7 A G 11: 120,515,365 (GRCm39) V97A possibly damaging Het
Slc14a2 A G 18: 78,206,419 (GRCm39) S466P probably benign Het
Slc2a10 T A 2: 165,357,361 (GRCm39) D340E probably benign Het
Slc36a2 A C 11: 55,075,735 (GRCm39) N17K probably benign Het
Slc4a10 A C 2: 62,155,071 (GRCm39) N1086T probably benign Het
Sptb T C 12: 76,676,423 (GRCm39) D177G probably damaging Het
Srpk2 A T 5: 23,730,748 (GRCm39) probably null Het
Sucla2 T G 14: 73,830,121 (GRCm39) V386G probably damaging Het
Susd1 G T 4: 59,424,089 (GRCm39) N45K possibly damaging Het
Tbxas1 T C 6: 38,994,822 (GRCm39) probably benign Het
Topors C T 4: 40,261,776 (GRCm39) E503K probably damaging Het
Trpv5 T C 6: 41,634,731 (GRCm39) R533G probably benign Het
Tshr A G 12: 91,504,115 (GRCm39) H351R possibly damaging Het
Ube2f G A 1: 91,203,037 (GRCm39) V94M probably damaging Het
Ugdh A G 5: 65,580,521 (GRCm39) S216P probably damaging Het
Unc45b T A 11: 82,802,531 (GRCm39) probably null Het
Vmn1r226 A G 17: 20,908,335 (GRCm39) E189G probably damaging Het
Xrcc6 T G 15: 81,913,900 (GRCm39) D75E probably benign Het
Ypel1 A G 16: 16,921,474 (GRCm39) L70P probably damaging Het
Zcwpw1 A T 5: 137,795,022 (GRCm39) R73W probably damaging Het
Zfp219 T C 14: 52,246,512 (GRCm39) E160G probably damaging Het
Zfp804b G T 5: 7,229,533 (GRCm39) probably benign Het
Zscan22 C A 7: 12,640,730 (GRCm39) P325T probably 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
R1619:Actg2 UTSW 6 83,500,169 (GRCm39) missense probably damaging 1.00
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'- CTTTTACTTGGAGGGGACACTCTGC -3'
(R):5'- TGGGGTAAAGAACCATTGAACTGGC -3'

Sequencing Primer
(F):5'- CAGGACTCTCTGTTGGGAACTC -3'
(R):5'- CCATTGAACTGGCATAGTTCTTG -3'
Posted On 2014-05-09