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 Arp2/3 complex subunit p21-Arc, p21-Ar, 1110006A04Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03201
Quality Score
Chromosome 5
Chromosomal Location 122391878-122414184 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122401718 bp (GRCm38)
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: 83,228,267 E105G probably damaging Het
Apc A G 18: 34,312,376 D757G probably damaging Het
C3 C A 17: 57,222,249 V597L probably damaging Het
Ccdc181 A G 1: 164,280,644 N299D probably benign Het
Cdr1 T A X: 61,185,548 Q4L unknown Het
Cep170 G A 1: 176,736,888 S1464F probably damaging Het
Cfh A G 1: 140,102,819 Y826H probably damaging Het
Chic2 A G 5: 75,011,293 probably benign Het
Chrne T C 11: 70,618,512 H81R probably benign Het
Clec4e A G 6: 123,283,640 I153T probably benign Het
Col14a1 A T 15: 55,408,904 D699V unknown Het
Cul3 T G 1: 80,281,427 S379R probably damaging Het
Cyp3a11 T A 5: 145,860,379 I397F possibly damaging Het
Dnah1 T C 14: 31,300,949 K1077R probably benign Het
Dnajc18 A G 18: 35,680,919 S266P probably benign Het
Dydc1 T G 14: 41,078,690 L74R probably damaging Het
Echdc2 G T 4: 108,169,870 A71S possibly damaging Het
Fer1l4 T A 2: 156,044,730 D693V probably benign Het
Fscn3 T C 6: 28,430,605 V258A probably benign Het
Herc2 T A 7: 56,219,768 I4255N probably damaging Het
Il1rl2 A G 1: 40,343,040 I171V possibly damaging Het
Ino80d G T 1: 63,058,308 T809K probably damaging Het
Lama2 A T 10: 27,344,570 L433* probably null Het
Nlrp9c A T 7: 26,385,108 S349T probably benign Het
Parp11 T C 6: 127,490,018 I124T possibly damaging Het
Parp8 A T 13: 116,863,069 probably benign Het
Pgm2 T C 4: 99,970,039 F379L probably damaging Het
Phf21b T C 15: 84,787,247 H482R probably benign Het
Phka1 A C X: 102,541,110 probably null Het
Plekhh1 T C 12: 79,053,656 W133R probably damaging Het
Polr2a A C 11: 69,745,690 L405* probably null Het
Prrg3 T A X: 71,966,502 V3E probably damaging Het
Pth1r T C 9: 110,722,580 K484E probably damaging Het
Rcbtb1 T C 14: 59,223,278 L230P probably damaging Het
Slc51a G A 16: 32,478,750 R110C probably damaging Het
Ssbp2 T C 13: 91,524,601 Y27H probably damaging Het
Sult2a4 A G 7: 13,931,767 V157A probably damaging Het
Tbx15 G A 3: 99,351,980 S389N probably benign Het
Ttn T G 2: 76,841,080 probably benign Het
Ube2n T C 10: 95,542,265 probably benign Het
Wdr95 G A 5: 149,581,887 probably null Het
Wsb2 T C 5: 117,376,555 S298P possibly damaging Het
Zc3h7a T C 16: 11,156,302 probably null Het
Zfat A G 15: 68,165,909 C906R probably damaging Het
Zfp747 G A 7: 127,374,008 T330I probably damaging Het
Zfp949 A G 9: 88,568,664 R96G probably benign Het
Other mutations in Arpc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01998:Arpc3 APN 5 122403407 missense probably damaging 1.00
R1240:Arpc3 UTSW 5 122404179 missense probably damaging 1.00
R4704:Arpc3 UTSW 5 122400408 start codon destroyed probably null 0.00
R4797:Arpc3 UTSW 5 122404152 missense possibly damaging 0.72
R5946:Arpc3 UTSW 5 122403396 missense probably damaging 1.00
RF022:Arpc3 UTSW 5 122400426 missense probably benign 0.07
Z1176:Arpc3 UTSW 5 122404230 missense probably damaging 1.00
Posted On 2016-08-02