Incidental Mutation 'IGL03201:Arpc3'
ID 412968
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arpc3
Ensembl Gene ENSMUSG00000029465
Gene Name actin related protein 2/3 complex, subunit 3
Synonyms 1110006A04Rik, p21-Ar, Arp2/3 complex subunit p21-Arc
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03201
Quality Score
Chromosome 5
Chromosomal Location 122529941-122544244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122539781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 45 (I45F)
Ref Sequence ENSEMBL: ENSMUSP00000107342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031421] [ENSMUST00000102525] [ENSMUST00000111713] [ENSMUST00000111716]
AlphaFold Q9JM76
Predicted Effect probably damaging
Transcript: ENSMUST00000031421
AA Change: I52F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031421
Gene: ENSMUSG00000029465
AA Change: I52F

Pfam:P21-Arc 1 165 5.6e-81 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102525
AA Change: I60F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099584
Gene: ENSMUSG00000029465
AA Change: I60F

Pfam:P21-Arc 1 173 1.6e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111713
AA Change: I45F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107342
Gene: ENSMUSG00000029465
AA Change: I45F

Pfam:P21-Arc 5 158 2.5e-71 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111716
AA Change: I43F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107345
Gene: ENSMUSG00000029465
AA Change: I43F

Pfam:P21-Arc 4 156 2.7e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148913
Predicted Effect unknown
Transcript: ENSMUST00000196969
AA Change: I41F
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a transposon-induced allele develop only to the blastocyst stage and show defects in trophoblast outgrowth and in the dynamics of actin accumulation. Mice heterozygous for the same transposon-induced allele and a knock-out allele showimpaired trophoblast outgrowth activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,468 (GRCm39) E105G probably damaging Het
Apc A G 18: 34,445,429 (GRCm39) D757G probably damaging Het
C3 C A 17: 57,529,249 (GRCm39) V597L probably damaging Het
Ccdc181 A G 1: 164,108,213 (GRCm39) N299D probably benign Het
Cdr1 T A X: 60,229,154 (GRCm39) Q4L unknown Het
Cep170 G A 1: 176,564,454 (GRCm39) S1464F probably damaging Het
Cfh A G 1: 140,030,557 (GRCm39) Y826H probably damaging Het
Chic2 A G 5: 75,171,954 (GRCm39) probably benign Het
Chrne T C 11: 70,509,338 (GRCm39) H81R probably benign Het
Clec4e A G 6: 123,260,599 (GRCm39) I153T probably benign Het
Col14a1 A T 15: 55,272,300 (GRCm39) D699V unknown Het
Cul3 T G 1: 80,259,144 (GRCm39) S379R probably damaging Het
Cyp3a11 T A 5: 145,797,189 (GRCm39) I397F possibly damaging Het
Dnah1 T C 14: 31,022,906 (GRCm39) K1077R probably benign Het
Dnajc18 A G 18: 35,813,972 (GRCm39) S266P probably benign Het
Dydc1 T G 14: 40,800,647 (GRCm39) L74R probably damaging Het
Echdc2 G T 4: 108,027,067 (GRCm39) A71S possibly damaging Het
Fer1l4 T A 2: 155,886,650 (GRCm39) D693V probably benign Het
Fscn3 T C 6: 28,430,604 (GRCm39) V258A probably benign Het
Herc2 T A 7: 55,869,516 (GRCm39) I4255N probably damaging Het
Il1rl2 A G 1: 40,382,200 (GRCm39) I171V possibly damaging Het
Ino80d G T 1: 63,097,467 (GRCm39) T809K probably damaging Het
Lama2 A T 10: 27,220,566 (GRCm39) L433* probably null Het
Nlrp9c A T 7: 26,084,533 (GRCm39) S349T probably benign Het
Parp11 T C 6: 127,466,981 (GRCm39) I124T possibly damaging Het
Parp8 A T 13: 116,999,605 (GRCm39) probably benign Het
Pgm1 T C 4: 99,827,236 (GRCm39) F379L probably damaging Het
Phf21b T C 15: 84,671,448 (GRCm39) H482R probably benign Het
Phka1 A C X: 101,584,716 (GRCm39) probably null Het
Plekhh1 T C 12: 79,100,430 (GRCm39) W133R probably damaging Het
Polr2a A C 11: 69,636,516 (GRCm39) L405* probably null Het
Prrg3 T A X: 71,010,108 (GRCm39) V3E probably damaging Het
Pth1r T C 9: 110,551,648 (GRCm39) K484E probably damaging Het
Rcbtb1 T C 14: 59,460,727 (GRCm39) L230P probably damaging Het
Slc51a G A 16: 32,297,568 (GRCm39) R110C probably damaging Het
Ssbp2 T C 13: 91,672,720 (GRCm39) Y27H probably damaging Het
Sult2a4 A G 7: 13,665,692 (GRCm39) V157A probably damaging Het
Tbx15 G A 3: 99,259,296 (GRCm39) S389N probably benign Het
Ttn T G 2: 76,671,424 (GRCm39) probably benign Het
Ube2n T C 10: 95,378,127 (GRCm39) probably benign Het
Wdr95 G A 5: 149,505,352 (GRCm39) probably null Het
Wsb2 T C 5: 117,514,620 (GRCm39) S298P possibly damaging Het
Zc3h7a T C 16: 10,974,166 (GRCm39) probably null Het
Zfat A G 15: 68,037,758 (GRCm39) C906R probably damaging Het
Zfp747 G A 7: 126,973,180 (GRCm39) T330I probably damaging Het
Zfp949 A G 9: 88,450,717 (GRCm39) R96G probably benign Het
Other mutations in Arpc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01998:Arpc3 APN 5 122,541,470 (GRCm39) missense probably damaging 1.00
R1240:Arpc3 UTSW 5 122,542,242 (GRCm39) missense probably damaging 1.00
R4704:Arpc3 UTSW 5 122,538,471 (GRCm39) start codon destroyed probably null 0.00
R4797:Arpc3 UTSW 5 122,542,215 (GRCm39) missense possibly damaging 0.72
R5946:Arpc3 UTSW 5 122,541,459 (GRCm39) missense probably damaging 1.00
RF022:Arpc3 UTSW 5 122,538,489 (GRCm39) missense probably benign 0.07
Z1176:Arpc3 UTSW 5 122,542,293 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02