Incidental Mutation 'R4183:Arpc2'
ID 319799
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 041019-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4183 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 74275656-74307368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74287322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 31 (N31K)
Ref Sequence ENSEMBL: ENSMUSP00000109450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006467] [ENSMUST00000113819] [ENSMUST00000113820]
AlphaFold Q9CVB6
Predicted Effect probably damaging
Transcript: ENSMUST00000006467
AA Change: N47K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000006467
Gene: ENSMUSG00000006304
AA Change: N47K

DomainStartEndE-ValueType
Pfam:P34-Arc 57 284 3.7e-107 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113819
AA Change: N31K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109450
Gene: ENSMUSG00000006304
AA Change: N31K

DomainStartEndE-ValueType
Pfam:P34-Arc 40 270 4.3e-107 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113820
AA Change: N47K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109451
Gene: ENSMUSG00000006304
AA Change: N47K

DomainStartEndE-ValueType
Pfam:P34-Arc 56 286 4.2e-106 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd11 T C 8: 123,626,415 (GRCm39) I198V possibly damaging Het
Arhgap12 T C 18: 6,111,734 (GRCm39) D210G probably damaging Het
Atp11a T A 8: 12,866,990 (GRCm39) V139D possibly damaging Het
Bicral T C 17: 47,124,955 (GRCm39) K615E probably damaging Het
Ccdc27 TTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTC 4: 154,120,763 (GRCm39) probably benign Het
Chrnb1 T C 11: 69,677,922 (GRCm39) M277V possibly damaging Het
Csmd1 C T 8: 15,960,464 (GRCm39) C3317Y probably damaging Het
Ddx1 A T 12: 13,281,504 (GRCm39) L353* probably null Het
Degs2 T C 12: 108,658,358 (GRCm39) K207R probably damaging Het
Fam167a T C 14: 63,689,769 (GRCm39) V22A probably benign Het
Fam186a G A 15: 99,831,566 (GRCm39) probably benign Het
Gprc5b T C 7: 118,583,749 (GRCm39) D40G probably benign Het
Grsf1 G A 5: 88,812,015 (GRCm39) P271S probably benign Het
Inpp5j A G 11: 3,451,134 (GRCm39) I505T probably damaging Het
Lurap1l G A 4: 80,872,095 (GRCm39) S196N probably benign Het
Mapk8 T C 14: 33,104,177 (GRCm39) D413G probably damaging Het
Mapkbp1 A G 2: 119,848,346 (GRCm39) D632G probably damaging Het
Mcidas A G 13: 113,130,906 (GRCm39) D77G probably damaging Het
Mdga1 A G 17: 30,188,964 (GRCm39) V33A unknown Het
Me3 A G 7: 89,501,038 (GRCm39) D583G probably benign Het
Mndal T A 1: 173,703,337 (GRCm39) T23S possibly damaging Het
Myh13 T C 11: 67,240,436 (GRCm39) M780T possibly damaging Het
Nat10 A G 2: 103,570,158 (GRCm39) L395P probably damaging Het
Naxd T C 8: 11,552,757 (GRCm39) V59A probably damaging Het
Nbeal2 A T 9: 110,465,743 (GRCm39) V876E probably benign Het
Or11h4b C G 14: 50,918,507 (GRCm39) E195Q probably benign Het
Or1o2 T G 17: 37,542,739 (GRCm39) H174P possibly damaging Het
Or4a39 T C 2: 89,236,935 (GRCm39) T163A probably benign Het
Or51v8 T C 7: 103,320,178 (GRCm39) Y20C possibly damaging Het
Or8g50 A G 9: 39,648,344 (GRCm39) T78A probably benign Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Pcsk4 C T 10: 80,160,845 (GRCm39) R327Q probably benign Het
Pkhd1 C T 1: 20,188,031 (GRCm39) V3426I probably benign Het
Ranbp2 T C 10: 58,301,488 (GRCm39) F687L possibly damaging Het
Rb1 A G 14: 73,435,966 (GRCm39) probably null Het
Tfpi2 C A 6: 3,963,926 (GRCm39) V51L probably damaging Het
Tnn T C 1: 159,924,925 (GRCm39) D1143G probably damaging Het
Ttn A G 2: 76,541,586 (GRCm39) M25473T probably benign Het
Vmn1r201 A G 13: 22,659,022 (GRCm39) I79V probably benign Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Wdr25 T A 12: 108,993,257 (GRCm39) F491Y probably benign Het
Zfp972 G A 2: 177,563,250 (GRCm39) Q56* probably null Het
Zfp982 A G 4: 147,597,150 (GRCm39) K169R probably benign 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
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'- TGATGCTGCATAGGTGGACTC -3'
(R):5'- AGTTGGAAGCCCCTGTTAGC -3'

Sequencing Primer
(F):5'- CTGCATAGGTGGACTCTTTAATAGC -3'
(R):5'- GCCCCTGTTAGCTGTATAAAGAAGC -3'
Posted On 2015-06-10