Incidental Mutation 'R7683:Arpc2'
ID 592852
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 045749-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 74275656-74307368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74302973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 250 (Y250H)
Ref Sequence ENSEMBL: ENSMUSP00000006467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006467] [ENSMUST00000113819] [ENSMUST00000113820]
AlphaFold Q9CVB6
Predicted Effect probably damaging
Transcript: ENSMUST00000006467
AA Change: Y250H

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006467
Gene: ENSMUSG00000006304
AA Change: Y250H

DomainStartEndE-ValueType
Pfam:P34-Arc 57 284 3.7e-107 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113819
AA Change: Y234H

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109450
Gene: ENSMUSG00000006304
AA Change: Y234H

DomainStartEndE-ValueType
Pfam:P34-Arc 40 270 4.3e-107 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113820
AA Change: Y250H

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109451
Gene: ENSMUSG00000006304
AA Change: Y250H

DomainStartEndE-ValueType
Pfam:P34-Arc 56 286 4.2e-106 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 A G 13: 59,660,312 (GRCm39) C305R probably damaging Het
Anpep C A 7: 79,488,946 (GRCm39) V381L probably damaging Het
Ap5s1 T C 2: 131,054,627 (GRCm39) L146P probably damaging Het
Arhgef11 A G 3: 87,629,690 (GRCm39) I599V probably damaging Het
Baz1b T A 5: 135,246,582 (GRCm39) M677K probably damaging Het
Begain C T 12: 108,999,413 (GRCm39) A453T unknown Het
C1ql4 T C 15: 98,985,092 (GRCm39) D173G probably benign Het
Card11 T G 5: 140,881,781 (GRCm39) N461T probably benign Het
Ccdc9 T C 7: 16,018,287 (GRCm39) D7G probably damaging Het
Ces2a T C 8: 105,463,744 (GRCm39) V152A probably benign Het
Chl1 G A 6: 103,668,613 (GRCm39) A449T possibly damaging Het
Col11a1 G T 3: 113,907,385 (GRCm39) G638W unknown Het
Cse1l A T 2: 166,764,708 (GRCm39) T171S probably benign Het
D2hgdh T A 1: 93,766,687 (GRCm39) probably null Het
Dlg4 T C 11: 69,930,680 (GRCm39) Y432H possibly damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
F11 T A 8: 45,702,545 (GRCm39) Q251L probably damaging Het
Gtf2f1 T A 17: 57,312,458 (GRCm39) E195V possibly damaging Het
Hap1 A T 11: 100,242,374 (GRCm39) L376Q probably damaging Het
Hars2 T A 18: 36,921,289 (GRCm39) I234N probably damaging Het
Hcfc2 T C 10: 82,535,063 (GRCm39) V29A probably benign Het
Hp C T 8: 110,305,731 (GRCm39) probably benign Het
Hrh1 T C 6: 114,456,748 (GRCm39) S10P probably benign Het
Kcnmb2 A G 3: 32,252,465 (GRCm39) Y222C probably damaging Het
Kdm3a A G 6: 71,576,438 (GRCm39) V792A probably benign Het
Kif13b G A 14: 64,994,956 (GRCm39) V903I probably benign Het
Lars2 G T 9: 123,206,895 (GRCm39) probably null Het
Med7 A G 11: 46,331,687 (GRCm39) D94G possibly damaging Het
Mier3 A G 13: 111,841,846 (GRCm39) T136A probably benign Het
Nin T C 12: 70,124,956 (GRCm39) E122G Het
Or5h18 G T 16: 58,847,469 (GRCm39) T267K probably benign Het
Or6k14 A G 1: 173,927,042 (GRCm39) Q6R probably benign Het
Oxsr1 T C 9: 119,070,821 (GRCm39) I489V probably benign Het
Pdcd6ip A T 9: 113,516,763 (GRCm39) L216Q probably damaging Het
Ppp4r4 T A 12: 103,553,364 (GRCm39) C379* probably null Het
Pramel24 A T 4: 143,453,284 (GRCm39) K131* probably null Het
Ptpn13 T A 5: 103,713,018 (GRCm39) C1714S probably benign Het
Pum2 G A 12: 8,778,922 (GRCm39) R498Q possibly damaging Het
Sema3d T A 5: 12,623,823 (GRCm39) Y577* probably null Het
Slc29a3 G A 10: 60,552,145 (GRCm39) P300S not run Het
Slc5a4b A G 10: 75,899,906 (GRCm39) V444A probably damaging Het
Smad9 A G 3: 54,696,685 (GRCm39) E250G probably damaging Het
Srsf7 A G 17: 80,514,703 (GRCm39) probably benign Het
Thsd7b A G 1: 129,523,683 (GRCm39) Y239C probably damaging Het
Triml2 C A 8: 43,638,325 (GRCm39) Q98K probably damaging Het
Txndc11 A T 16: 10,902,099 (GRCm39) L705Q probably damaging Het
Vmn1r22 A G 6: 57,877,404 (GRCm39) M191T probably damaging Het
Vmn2r89 A T 14: 51,692,651 (GRCm39) K151N probably benign Het
Vwa5a A G 9: 38,646,125 (GRCm39) I498V probably damaging Het
Zfp459 T C 13: 67,556,615 (GRCm39) H156R probably damaging Het
Zscan18 T A 7: 12,503,532 (GRCm39) K676* 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
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
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'- TTCTGTGTCGTGAGCCTCAC -3'
(R):5'- CTCTGCTATAGGAAGGATAAGGCG -3'

Sequencing Primer
(F):5'- ACCTCTTGCACTCATAGGCAC -3'
(R):5'- AATCAATGGCTCCGTAGG -3'
Posted On 2019-11-12