Incidental Mutation 'R6017:Arpc2'
ID 478618
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 044191-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6017 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 74275656-74307368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 74301645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 193 (H193N)
Ref Sequence ENSEMBL: ENSMUSP00000109451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006467] [ENSMUST00000113819] [ENSMUST00000113820]
AlphaFold Q9CVB6
Predicted Effect probably benign
Transcript: ENSMUST00000006467
AA Change: H193N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006467
Gene: ENSMUSG00000006304
AA Change: H193N

DomainStartEndE-ValueType
Pfam:P34-Arc 57 284 3.7e-107 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113819
AA Change: H177N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109450
Gene: ENSMUSG00000006304
AA Change: H177N

DomainStartEndE-ValueType
Pfam:P34-Arc 40 270 4.3e-107 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113820
AA Change: H193N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109451
Gene: ENSMUSG00000006304
AA Change: H193N

DomainStartEndE-ValueType
Pfam:P34-Arc 56 286 4.2e-106 PFAM
Meta Mutation Damage Score 0.0628 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 97% (62/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,325,780 (GRCm39) I56M probably damaging Het
Adgrv1 A T 13: 81,545,542 (GRCm39) L5581* probably null Het
B3galt5 A G 16: 96,116,384 (GRCm39) T6A probably benign Het
Bod1l A T 5: 41,976,103 (GRCm39) V1737E probably benign Het
Cacfd1 T G 2: 26,903,440 (GRCm39) probably benign Het
Cdc42ep4 A T 11: 113,620,192 (GRCm39) D66E probably benign Het
Cldn1 G T 16: 26,181,969 (GRCm39) T80N probably damaging Het
Cmtm1 C A 8: 105,037,583 (GRCm39) probably benign Het
Cntnap5c A T 17: 58,411,693 (GRCm39) I526F probably benign Het
Copb1 T C 7: 113,836,032 (GRCm39) K450E probably benign Het
Crebrf A C 17: 26,976,823 (GRCm39) I416L probably benign Het
Csmd3 C A 15: 48,177,408 (GRCm39) V377F possibly damaging Het
Cyp1a2 T C 9: 57,588,313 (GRCm39) K304E probably damaging Het
Cyp2d26 A G 15: 82,674,774 (GRCm39) S403P possibly damaging Het
Cyp4a12a T A 4: 115,183,476 (GRCm39) C198* probably null Het
Ddx11 A G 17: 66,437,012 (GRCm39) D102G Het
Dpys T A 15: 39,710,114 (GRCm39) Q105L probably null Het
Dsn1 C A 2: 156,838,162 (GRCm39) R334L probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epha8 G T 4: 136,659,054 (GRCm39) H867N probably damaging Het
Ephb3 T C 16: 21,040,781 (GRCm39) L643P probably damaging Het
Fbxo44 G T 4: 148,243,010 (GRCm39) H83Q probably benign Het
Gm13102 T C 4: 143,835,807 (GRCm39) Y477H possibly damaging Het
Gm7347 T C 5: 26,262,276 (GRCm39) T82A probably benign Het
Gss C A 2: 155,429,385 (GRCm39) A36S probably benign Het
Hepacam A G 9: 37,292,056 (GRCm39) D128G probably benign Het
Hepacam2 C A 6: 3,483,332 (GRCm39) V226F probably damaging Het
Hgfac T C 5: 35,201,739 (GRCm39) Y291H probably damaging Het
Ip6k2 G A 9: 108,674,466 (GRCm39) R88H probably benign Het
Irx5 T A 8: 93,084,878 (GRCm39) Y23N probably damaging Het
Kcnf1 T C 12: 17,225,082 (GRCm39) M380V probably damaging Het
Kcnj1 A T 9: 32,305,400 (GRCm39) probably benign Het
Kcnk12 T C 17: 88,054,164 (GRCm39) E166G probably damaging Het
Kctd16 T C 18: 40,391,996 (GRCm39) C195R probably damaging Het
Kif28 T A 1: 179,527,018 (GRCm39) I718F probably benign Het
Lce1e T A 3: 92,615,240 (GRCm39) K36* probably null Het
Map4 T C 9: 109,863,687 (GRCm39) L304P probably benign Het
Mettl17 C T 14: 52,129,074 (GRCm39) probably benign Het
Mpp4 T C 1: 59,160,518 (GRCm39) D595G probably damaging Het
Myo18a A G 11: 77,732,349 (GRCm39) K1282E probably damaging Het
Nf2 A T 11: 4,766,137 (GRCm39) V131D possibly damaging Het
Or7g35 T C 9: 19,496,730 (GRCm39) V299A probably benign Het
Or8b3 A T 9: 38,314,916 (GRCm39) M249L probably benign Het
Oxsr1 A G 9: 119,093,843 (GRCm39) L270S probably benign Het
Plekhg2 G A 7: 28,062,309 (GRCm39) T536I probably damaging Het
Ppp1r9a T A 6: 4,906,363 (GRCm39) V306D probably benign Het
Ptk6 C T 2: 180,837,605 (GRCm39) C438Y probably benign Het
Scfd1 T C 12: 51,492,461 (GRCm39) V590A probably damaging Het
Serpina1b A G 12: 103,695,531 (GRCm39) S337P probably damaging Het
Skor2 T A 18: 76,946,622 (GRCm39) C115S unknown Het
Slc2a7 T C 4: 150,249,629 (GRCm39) S407P probably damaging Het
Slc8a1 A G 17: 81,955,683 (GRCm39) S452P probably damaging Het
Spata31d1c A G 13: 65,182,893 (GRCm39) D145G possibly damaging Het
Spata6 C A 4: 111,632,024 (GRCm39) T145K probably damaging Het
Stab1 C T 14: 30,863,501 (GRCm39) R2087H probably benign Het
Stk24 C T 14: 121,539,657 (GRCm39) V180M probably benign Het
Trrap A G 5: 144,781,051 (GRCm39) T3271A probably damaging Het
Tyro3 T A 2: 119,647,147 (GRCm39) W755R probably damaging Het
Ush2a T C 1: 188,689,711 (GRCm39) probably null Het
Uts2b T C 16: 27,179,793 (GRCm39) probably null Het
Vmn2r105 T A 17: 20,428,889 (GRCm39) H729L probably damaging Het
Vps35l T A 7: 118,409,144 (GRCm39) V635D probably damaging Het
Wdfy3 T C 5: 101,999,225 (GRCm39) I3068V probably benign Het
Zfp457 G A 13: 67,441,763 (GRCm39) H175Y probably damaging Het
Zfp758 A G 17: 22,592,712 (GRCm39) D40G probably damaging 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
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'- TGTGCACTGAAAGCGGCTAG -3'
(R):5'- TTAAGTTCGCCTAGATGTGGGC -3'

Sequencing Primer
(F):5'- AGCACTCCTTGTACCTGAGG -3'
(R):5'- CACCCTGCCATGAAGGTTTTGG -3'
Posted On 2017-06-26