Incidental Mutation 'R0660:Actr3'
ID 208429
Institutional Source Beutler Lab
Gene Symbol Actr3
Ensembl Gene ENSMUSG00000026341
Gene Name ARP3 actin-related protein 3
Synonyms Arp3, 1200003A09Rik
MMRRC Submission 038845-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0660 (G1)
Quality Score 44
Status Validated
Chromosome 1
Chromosomal Location 125320642-125363464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 125336304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 129 (I129L)
Ref Sequence ENSEMBL: ENSMUSP00000137503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027579] [ENSMUST00000178474] [ENSMUST00000185280] [ENSMUST00000187460] [ENSMUST00000188497] [ENSMUST00000191544] [ENSMUST00000191004] [ENSMUST00000191578]
AlphaFold Q99JY9
Predicted Effect probably benign
Transcript: ENSMUST00000027579
AA Change: I129L

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027579
Gene: ENSMUSG00000026341
AA Change: I129L

DomainStartEndE-ValueType
ACTIN 5 413 1.62e-186 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178474
AA Change: I129L

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000137503
Gene: ENSMUSG00000026341
AA Change: I129L

DomainStartEndE-ValueType
ACTIN 5 413 1.62e-186 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185280
AA Change: I41L

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140082
Gene: ENSMUSG00000026341
AA Change: I41L

DomainStartEndE-ValueType
Pfam:Actin 1 70 2.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187460
AA Change: I129L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140000
Gene: ENSMUSG00000026341
AA Change: I129L

DomainStartEndE-ValueType
ACTIN 5 161 3.4e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188497
AA Change: I129L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000140535
Gene: ENSMUSG00000026341
AA Change: I129L

DomainStartEndE-ValueType
ACTIN 5 216 7.6e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189192
Predicted Effect probably benign
Transcript: ENSMUST00000191544
AA Change: I78L

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139674
Gene: ENSMUSG00000026341
AA Change: I78L

DomainStartEndE-ValueType
ACTIN 1 155 2.8e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191004
AA Change: I78L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140953
Gene: ENSMUSG00000026341
AA Change: I78L

DomainStartEndE-ValueType
Pfam:Actin 2 129 2.1e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191578
Meta Mutation Damage Score 0.4286 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele die prior to E4.5 and exhibit abnormal embryogenesis. [provided by MGI curators]
Allele List at MGI

All alleles(12) : Gene trapped(12)

Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik T C 17: 48,473,759 (GRCm39) I53V probably benign Het
Abtb3 G A 10: 85,224,234 (GRCm39) A348T possibly damaging Het
Armcx2 G A X: 133,706,385 (GRCm39) T416I possibly damaging Het
Aspm T A 1: 139,385,502 (GRCm39) M382K probably benign Het
Cacna1b A G 2: 24,544,458 (GRCm39) S1243P probably damaging Het
Cenpp C T 13: 49,618,173 (GRCm39) R244Q probably benign Het
Dock2 A G 11: 34,198,621 (GRCm39) S1444P probably damaging Het
Fmo4 T C 1: 162,637,417 (GRCm39) N25S probably benign Het
Ipo8 A T 6: 148,701,711 (GRCm39) L466I probably benign Het
Or5p6 T C 7: 107,630,822 (GRCm39) T243A probably damaging Het
Pnpla6 T C 8: 3,572,269 (GRCm39) probably benign Het
Prkcb T C 7: 122,024,182 (GRCm39) V69A possibly damaging Het
Sars1 G A 3: 108,338,789 (GRCm39) L247F probably damaging Het
Slco1a4 T C 6: 141,758,467 (GRCm39) I515V probably benign Het
Tanc1 A T 2: 59,674,228 (GRCm39) K1778* probably null Het
Zkscan3 A T 13: 21,572,630 (GRCm39) I167N probably damaging Het
Other mutations in Actr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Actr3 APN 1 125,324,966 (GRCm39) missense probably benign 0.00
IGL00574:Actr3 APN 1 125,339,011 (GRCm39) missense probably damaging 1.00
IGL00715:Actr3 APN 1 125,322,813 (GRCm39) missense probably damaging 0.96
IGL01139:Actr3 APN 1 125,333,622 (GRCm39) missense probably damaging 1.00
IGL01897:Actr3 APN 1 125,346,025 (GRCm39) missense possibly damaging 0.54
P0023:Actr3 UTSW 1 125,322,803 (GRCm39) critical splice donor site probably null
R0217:Actr3 UTSW 1 125,335,150 (GRCm39) splice site probably benign
R1494:Actr3 UTSW 1 125,344,018 (GRCm39) missense probably benign 0.06
R1582:Actr3 UTSW 1 125,333,662 (GRCm39) missense probably benign 0.01
R1589:Actr3 UTSW 1 125,336,300 (GRCm39) missense probably damaging 1.00
R3432:Actr3 UTSW 1 125,321,776 (GRCm39) missense probably damaging 1.00
R5810:Actr3 UTSW 1 125,344,116 (GRCm39) intron probably benign
R6089:Actr3 UTSW 1 125,335,132 (GRCm39) missense probably damaging 1.00
R6276:Actr3 UTSW 1 125,322,874 (GRCm39) missense probably benign
R7120:Actr3 UTSW 1 125,331,169 (GRCm39) nonsense probably null
R9533:Actr3 UTSW 1 125,339,048 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCCCTACCGTGTCTAAATTGTCACC -3'
(R):5'- CGAATTGCTCCTGCATTTTAGCCTG -3'

Sequencing Primer
(F):5'- CCTCAGGAAAGCATGGTATGATTC -3'
(R):5'- atagttcctttcccccagttc -3'
Posted On 2014-06-26