Incidental Mutation 'R0220:Arpc2'
ID 33757
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 038469-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0220 (G1)
Quality Score 182
Status Not validated
Chromosome 1
Chromosomal Location 74275656-74307368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74287293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 38 (F38I)
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: F38I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006467
Gene: ENSMUSG00000006304
AA Change: F38I

DomainStartEndE-ValueType
Pfam:P34-Arc 57 284 3.7e-107 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113819
AA Change: F22I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109450
Gene: ENSMUSG00000006304
AA Change: F22I

DomainStartEndE-ValueType
Pfam:P34-Arc 40 270 4.3e-107 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113820
AA Change: F38I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109451
Gene: ENSMUSG00000006304
AA Change: F38I

DomainStartEndE-ValueType
Pfam:P34-Arc 56 286 4.2e-106 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
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 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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,195,194 (GRCm39) probably null Het
Abcc5 A G 16: 20,187,852 (GRCm39) V863A probably benign Het
Anxa6 A C 11: 54,872,588 (GRCm39) probably null Het
Armc10 A G 5: 21,866,582 (GRCm39) K296R probably benign Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Bcl6 T A 16: 23,784,969 (GRCm39) H677L possibly damaging Het
Bcl7a G A 5: 123,489,982 (GRCm39) V49I probably damaging Het
Ccnj T C 19: 40,833,254 (GRCm39) L144P probably damaging Het
Cdh8 G T 8: 99,838,311 (GRCm39) P510T probably benign Het
Cgnl1 C A 9: 71,632,225 (GRCm39) K375N possibly damaging Het
Cubn C A 2: 13,361,520 (GRCm39) R1695L probably damaging Het
Cyp3a59 G A 5: 146,035,080 (GRCm39) V253I probably benign Het
Cyp4f13 A G 17: 33,148,476 (GRCm39) I208T probably damaging Het
Dennd4a A C 9: 64,759,727 (GRCm39) E277D probably damaging Het
Depdc1a G A 3: 159,229,542 (GRCm39) V625I probably benign Het
Dot1l A T 10: 80,621,692 (GRCm39) D448V probably damaging Het
Efhc1 A G 1: 21,037,582 (GRCm39) D253G probably damaging Het
Eme1 T A 11: 94,541,084 (GRCm39) E246V probably null Het
Foxred1 A G 9: 35,120,749 (GRCm39) L128P probably damaging Het
Gm4787 G T 12: 81,425,422 (GRCm39) S245R probably damaging Het
Gm5141 T A 13: 62,922,271 (GRCm39) K299N probably damaging Het
Greb1 C A 12: 16,732,287 (GRCm39) R1558L probably damaging Het
Ip6k3 A T 17: 27,364,203 (GRCm39) F282I probably damaging Het
Kdm2a T C 19: 4,374,947 (GRCm39) D288G possibly damaging Het
Kdm4d A T 9: 14,374,418 (GRCm39) V480E probably benign Het
Kif26a A T 12: 112,123,824 (GRCm39) Q143L probably damaging Het
Klhl41 G A 2: 69,500,829 (GRCm39) D97N probably benign Het
Krt34 C T 11: 99,929,519 (GRCm39) probably benign Het
Lcn11 A T 2: 25,667,843 (GRCm39) H77L probably benign Het
Megf6 G A 4: 154,342,672 (GRCm39) R529H probably damaging Het
Mipol1 A G 12: 57,503,936 (GRCm39) E368G probably damaging Het
Mtus1 A T 8: 41,447,609 (GRCm39) M442K probably damaging Het
Naca T C 10: 127,879,255 (GRCm39) probably benign Het
Nbea G A 3: 55,912,724 (GRCm39) T1021I probably benign Het
Nfib A T 4: 82,215,013 (GRCm39) V530E probably damaging Het
Nptx1 A G 11: 119,435,467 (GRCm39) V283A probably damaging Het
Opn5 A G 17: 42,907,495 (GRCm39) V127A probably benign Het
Or4c126 G T 2: 89,824,206 (GRCm39) L156F probably benign Het
Or5h22 A T 16: 58,895,095 (GRCm39) M116K probably damaging Het
Pcgf6 A G 19: 47,028,529 (GRCm39) V291A probably benign Het
Pilrb2 C A 5: 137,869,459 (GRCm39) R47L probably benign Het
Prom2 A C 2: 127,383,027 (GRCm39) S72A probably benign Het
Sema3e T C 5: 14,214,167 (GRCm39) F144S possibly damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Smarcc2 A T 10: 128,319,505 (GRCm39) D798V probably benign Het
Taf5 T C 19: 47,068,999 (GRCm39) S563P probably damaging Het
Topaz1 A G 9: 122,578,368 (GRCm39) H426R possibly damaging Het
Tpgs1 T A 10: 79,511,271 (GRCm39) C138S possibly damaging Het
Traf1 A T 2: 34,839,115 (GRCm39) V70D probably benign Het
Ttn T C 2: 76,641,737 (GRCm39) Y13453C probably damaging Het
Ubxn4 T A 1: 128,183,931 (GRCm39) V97D possibly damaging Het
Ugt1a8 A T 1: 88,016,057 (GRCm39) I157L probably benign Het
Vmn2r13 A T 5: 109,304,332 (GRCm39) C700S probably damaging Het
Wee1 A T 7: 109,723,733 (GRCm39) D216V probably benign Het
Zc3h4 T C 7: 16,163,198 (GRCm39) Y533H unknown Het
Zfp1005 A T 2: 150,110,595 (GRCm39) Q428H unknown Het
Zfp81 A G 17: 33,555,698 (GRCm39) I43T possibly damaging Het
Zfp963 A T 8: 70,196,145 (GRCm39) Y103N probably benign Het
Zfp963 A T 8: 70,196,143 (GRCm39) Y103* probably null Het
Zzef1 G T 11: 72,756,792 (GRCm39) D1126Y probably damaging Het
Other mutations in Arpc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Arpc2 APN 1 74,287,338 (GRCm39) missense probably benign
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
R5144:Arpc2 UTSW 1 74,287,367 (GRCm39) missense probably damaging 1.00
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'- GTGAGTACACTCTGAAAGAAGCCCC -3'
(R):5'- GAATGGAGTTGGAAGCCCCTGTTAG -3'

Sequencing Primer
(F):5'- CTGCATAGGTGGACTCTTTAATAGC -3'
(R):5'- CCCTGTTAGCTGTATAAAGAAGCC -3'
Posted On 2013-05-09