Incidental Mutation 'R5144:Arpc2'
ID 395027
Institutional Source Beutler Lab
Gene Symbol Arpc2
Ensembl Gene ENSMUSG00000006304
Gene Name actin related protein 2/3 complex, subunit 2
Synonyms p34-Arc, 2210023N03Rik
MMRRC Submission 042728-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5144 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 74275656-74307368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74287367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 62 (K62N)
Ref Sequence ENSEMBL: ENSMUSP00000109451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006467] [ENSMUST00000113819] [ENSMUST00000113820]
AlphaFold Q9CVB6
Predicted Effect probably damaging
Transcript: ENSMUST00000006467
AA Change: K62N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006467
Gene: ENSMUSG00000006304
AA Change: K62N

DomainStartEndE-ValueType
Pfam:P34-Arc 57 284 3.7e-107 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113819
AA Change: K46N

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109450
Gene: ENSMUSG00000006304
AA Change: K46N

DomainStartEndE-ValueType
Pfam:P34-Arc 40 270 4.3e-107 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113820
AA Change: K62N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109451
Gene: ENSMUSG00000006304
AA Change: K62N

DomainStartEndE-ValueType
Pfam:P34-Arc 56 286 4.2e-106 PFAM
Meta Mutation Damage Score 0.6984 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 96% (47/49)
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 implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik T A 2: 68,446,604 (GRCm39) probably benign Het
B4galt5 C T 2: 167,148,516 (GRCm39) E201K possibly damaging Het
Bub1b C T 2: 118,445,980 (GRCm39) T334M possibly damaging Het
Ccdc71 T C 9: 108,341,051 (GRCm39) V288A probably benign Het
Cep350 G A 1: 155,786,896 (GRCm39) R1444W probably damaging Het
Chrna4 A G 2: 180,666,623 (GRCm39) L605P probably damaging Het
Col6a5 T A 9: 105,766,482 (GRCm39) I1813F probably damaging Het
Col9a1 A G 1: 24,278,434 (GRCm39) I821V probably benign Het
D430041D05Rik T C 2: 104,088,847 (GRCm39) D43G probably damaging Het
Depdc7 T C 2: 104,560,598 (GRCm39) Y132C probably damaging Het
Dppa2 T C 16: 48,137,666 (GRCm39) V216A probably damaging Het
Ect2l A T 10: 18,020,325 (GRCm39) N598K probably benign Het
Eif3c T C 7: 126,162,238 (GRCm39) T195A probably benign Het
Epg5 T C 18: 78,058,895 (GRCm39) V1883A probably damaging Het
Ino80c T A 18: 24,241,935 (GRCm39) D150V probably benign Het
Kcnb1 T A 2: 166,947,864 (GRCm39) Y328F probably damaging Het
Kcnj3 G A 2: 55,337,059 (GRCm39) probably null Het
Ncor1 T G 11: 62,240,290 (GRCm39) S894R probably damaging Het
Nlgn3 G A X: 100,361,891 (GRCm39) V287I probably benign Het
Nod2 T C 8: 89,379,694 (GRCm39) V72A probably damaging Het
Nudt19 T C 7: 35,254,650 (GRCm39) T194A probably benign Het
Or1j4 A T 2: 36,740,156 (GRCm39) T33S probably benign Het
Or8b53 C T 9: 38,667,689 (GRCm39) S235L possibly damaging Het
Pappa2 T A 1: 158,784,703 (GRCm39) R102S probably benign Het
Pik3c2a T C 7: 115,950,021 (GRCm39) N1332S probably benign Het
Plppr1 T A 4: 49,319,800 (GRCm39) V142E possibly damaging Het
Prdm6 C A 18: 53,598,110 (GRCm39) probably benign Het
Prm2 T A 16: 10,609,732 (GRCm39) probably benign Het
Prmt3 T C 7: 49,435,883 (GRCm39) S155P possibly damaging Het
Rars2 T C 4: 34,656,793 (GRCm39) Y481H probably benign Het
Rgs2 G A 1: 143,877,437 (GRCm39) T206M probably benign Het
Slc2a8 C T 2: 32,871,785 (GRCm39) R56H probably damaging Het
Spmip11 C A 15: 98,483,148 (GRCm39) probably null Het
Stk35 T A 2: 129,652,855 (GRCm39) M452K probably damaging Het
Tcf3 G A 10: 80,251,071 (GRCm39) H454Y probably damaging Het
Tgm3 C T 2: 129,890,202 (GRCm39) S655F possibly damaging Het
Tssc4 T G 7: 142,623,770 (GRCm39) L26R probably damaging Het
Utp11 A T 4: 124,572,695 (GRCm39) probably benign Het
Vmn1r237 C G 17: 21,534,688 (GRCm39) A137G possibly damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vps8 T C 16: 21,378,103 (GRCm39) L1038P probably damaging Het
Wipf3 C T 6: 54,462,660 (GRCm39) A290V probably damaging Het
Zdhhc25 T G 15: 88,485,259 (GRCm39) L198R probably damaging Het
Zdhhc6 A T 19: 55,302,998 (GRCm39) M1K probably null Het
Other mutations in Arpc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Arpc2 APN 1 74,287,338 (GRCm39) missense probably benign
R0220:Arpc2 UTSW 1 74,287,293 (GRCm39) missense probably damaging 1.00
R0364:Arpc2 UTSW 1 74,276,046 (GRCm39) missense probably null
R1695:Arpc2 UTSW 1 74,287,391 (GRCm39) missense probably damaging 0.97
R4183:Arpc2 UTSW 1 74,287,322 (GRCm39) missense probably damaging 0.99
R5438:Arpc2 UTSW 1 74,275,995 (GRCm39) missense probably null 1.00
R5775:Arpc2 UTSW 1 74,295,108 (GRCm39) splice site probably null
R6017:Arpc2 UTSW 1 74,301,645 (GRCm39) missense probably benign
R7173:Arpc2 UTSW 1 74,303,531 (GRCm39) missense probably damaging 1.00
R7683:Arpc2 UTSW 1 74,302,973 (GRCm39) missense probably damaging 0.98
R9275:Arpc2 UTSW 1 74,276,041 (GRCm39) missense probably benign 0.01
R9278:Arpc2 UTSW 1 74,276,041 (GRCm39) missense probably benign 0.01
R9664:Arpc2 UTSW 1 74,294,034 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- GATGCTGCATAGGTGGACTC -3'
(R):5'- TTGGAAGCCCCTGTTAGCTG -3'

Sequencing Primer
(F):5'- CTGCATAGGTGGACTCTTTAATAGC -3'
(R):5'- GCCCCTGTTAGCTGTATAAAGAAGC -3'
Posted On 2016-06-21