Incidental Mutation 'P0023:Actr3'
ID 15757
Institutional Source Beutler Lab
Gene Symbol Actr3
Ensembl Gene ENSMUSG00000026341
Gene Name ARP3 actin-related protein 3
Synonyms Arp3, 1200003A09Rik
MMRRC Submission 038276-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # P0023 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 125320642-125363464 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 125322803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027579] [ENSMUST00000178474] [ENSMUST00000191578]
AlphaFold Q99JY9
Predicted Effect probably null
Transcript: ENSMUST00000027579
SMART Domains Protein: ENSMUSP00000027579
Gene: ENSMUSG00000026341

DomainStartEndE-ValueType
ACTIN 5 413 1.62e-186 SMART
Predicted Effect probably null
Transcript: ENSMUST00000178474
SMART Domains Protein: ENSMUSP00000137503
Gene: ENSMUSG00000026341

DomainStartEndE-ValueType
ACTIN 5 413 1.62e-186 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188362
Predicted Effect probably benign
Transcript: ENSMUST00000191578
Meta Mutation Damage Score 0.9594 question?
Coding Region Coverage
  • 1x: 85.1%
  • 3x: 76.2%
  • 10x: 34.8%
  • 20x: 2.4%
Validation Efficiency 97% (62/64)
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chp2 A G 7: 121,821,361 (GRCm39) N185S probably benign Het
Cited2 A G 10: 17,600,463 (GRCm39) D257G probably damaging Het
Clptm1l G T 13: 73,753,071 (GRCm39) R62L possibly damaging Het
Cmya5 C T 13: 93,225,854 (GRCm39) S3078N probably benign Het
Dcaf1 T A 9: 106,737,650 (GRCm39) F1169I probably benign Het
Efhc1 G A 1: 21,025,751 (GRCm39) V86I probably benign Het
Fanci A C 7: 79,052,048 (GRCm39) D107A probably benign Het
Fyb1 A T 15: 6,681,335 (GRCm39) K74M probably damaging Het
Gapvd1 A G 2: 34,596,700 (GRCm39) probably benign Het
Gm11992 T C 11: 9,002,846 (GRCm39) Y70H probably damaging Het
Lrba A G 3: 86,325,242 (GRCm39) E1900G probably damaging Het
Lrpprc G A 17: 85,033,766 (GRCm39) T1037M probably benign Het
Or8b50 A G 9: 38,517,941 (GRCm39) Y60C probably damaging Het
Piezo2 A G 18: 63,519,271 (GRCm39) probably benign Het
Pld1 T C 3: 28,102,274 (GRCm39) S342P probably damaging Het
Prkag3 A G 1: 74,779,898 (GRCm39) L479P probably damaging Het
Rsf1 T C 7: 97,311,478 (GRCm39) I736T probably damaging Het
Tet2 C A 3: 133,192,654 (GRCm39) M593I probably benign Het
Ttpal T C 2: 163,453,729 (GRCm39) Y167H 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
R0217:Actr3 UTSW 1 125,335,150 (GRCm39) splice site probably benign
R0660:Actr3 UTSW 1 125,336,304 (GRCm39) missense probably benign 0.40
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
Protein Function and Prediction

Arp3 is a ubiquitously expressed member of the multiprotein complex (i.e., the Arp2/3 complex) involved in the induction of actin polymerization in lamellipodia (i.e., the leading edge of motile cells) during cell shape change and locomotion (1-5).  Arp3 localizes to regions of actin assembly such as macropinocytotic cups, the leading edges of motile cells (1;6), the actin comet tails of the intracellular pathogen Listeria monocytogenes (2), actin filament morphology in Drosophila (7), Caenorhabditis elegans (8), and in mammalian cells (4) as well as motile actin patches associated with the plasma membrane of budding yeast (3;9).
Background

Actr3Gt(A009F03)Vau/Gt(A009F03)Vau; MGI:3765916

involves: 129P2/OlaHsd * CD-1

Mice homozygous for a null allele die prior to E4.5 and exhibit abnormal embryogenesis. The recessive embryonic lethal phenotype indicates that Arp3 plays a vital role for early mouse development, possibly when trophoblast cells become critical for implantation (10).
References
Posted On 2012-12-21
Science Writer Anne Murray