Incidental Mutation 'IGL00233:Arpc5'
ID 306846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arpc5
Ensembl Gene ENSMUSG00000008475
Gene Name actin related protein 2/3 complex, subunit 5
Synonyms p16-Arc, 5830443F10Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.333) question?
Stock # IGL00233
Quality Score
Status
Chromosome 1
Chromosomal Location 152642293-152651331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152644658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 64 (I64V)
Ref Sequence ENSEMBL: ENSMUSP00000095143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077755] [ENSMUST00000097536] [ENSMUST00000111857] [ENSMUST00000111859]
AlphaFold Q9CPW4
Predicted Effect probably benign
Transcript: ENSMUST00000077755
AA Change: I64V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076933
Gene: ENSMUSG00000008475
AA Change: I64V

DomainStartEndE-ValueType
Pfam:P16-Arc 10 151 1.9e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097536
AA Change: I64V

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000095143
Gene: ENSMUSG00000008475
AA Change: I64V

DomainStartEndE-ValueType
Pfam:P16-Arc 9 77 1.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111857
SMART Domains Protein: ENSMUSP00000107488
Gene: ENSMUSG00000026482

DomainStartEndE-ValueType
RasGEFN 62 194 5.86e-39 SMART
RasGEF 226 500 9.56e-116 SMART
Blast:RasGEF 520 580 7e-8 BLAST
low complexity region 583 594 N/A INTRINSIC
low complexity region 625 635 N/A INTRINSIC
RA 646 733 1.7e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111859
SMART Domains Protein: ENSMUSP00000107490
Gene: ENSMUSG00000026482

DomainStartEndE-ValueType
RasGEFN 99 231 5.86e-39 SMART
RasGEF 263 537 9.56e-116 SMART
Blast:RasGEF 557 617 6e-8 BLAST
low complexity region 620 631 N/A INTRINSIC
low complexity region 662 672 N/A INTRINSIC
RA 683 770 1.7e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143008
Coding Region Coverage
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 p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp1 A T 3: 132,382,904 (GRCm39) probably benign Het
C030048H21Rik G A 2: 26,146,632 (GRCm39) R1227W probably damaging Het
Cacnb1 T C 11: 97,913,190 (GRCm39) E21G possibly damaging Het
Catsper3 A G 13: 55,946,635 (GRCm39) K111E possibly damaging Het
Cda T C 4: 138,095,157 (GRCm39) Y33C probably damaging Het
Celsr3 A T 9: 108,726,124 (GRCm39) R3118W probably damaging Het
Clvs1 G A 4: 9,281,939 (GRCm39) G128R probably damaging Het
Col9a1 A G 1: 24,224,306 (GRCm39) S163G unknown Het
Cyp4v3 T C 8: 45,760,040 (GRCm39) D64G probably benign Het
Dst C A 1: 34,290,920 (GRCm39) L837M probably damaging Het
Eif2ak4 T A 2: 118,294,536 (GRCm39) I1349N probably damaging Het
Elob C A 17: 24,043,954 (GRCm39) probably null Het
Glipr1 T A 10: 111,821,555 (GRCm39) I216L probably benign Het
Gm3238 C T 10: 77,607,126 (GRCm39) probably benign Het
Gm43638 C T 5: 87,608,258 (GRCm39) R527H probably damaging Het
H2-M11 A G 17: 36,858,445 (GRCm39) K80E probably benign Het
Htt A G 5: 35,053,370 (GRCm39) probably null Het
Kif26a A G 12: 112,124,066 (GRCm39) S224G probably damaging Het
Mgat5b T A 11: 116,822,488 (GRCm39) M74K probably damaging Het
Ms4a7 A T 19: 11,299,724 (GRCm39) V89D probably damaging Het
Nlrx1 G A 9: 44,175,365 (GRCm39) T137I probably benign Het
Pcdhb12 A G 18: 37,570,035 (GRCm39) T394A probably benign Het
Pkhd1l1 T C 15: 44,340,982 (GRCm39) I151T probably damaging Het
Plcl1 T C 1: 55,445,695 (GRCm39) V50A probably benign Het
Prkd2 T C 7: 16,599,787 (GRCm39) F750S probably damaging Het
Psmd13 T C 7: 140,477,534 (GRCm39) V311A probably damaging Het
Rec8 C T 14: 55,860,972 (GRCm39) Q334* probably null Het
Rfx7 G A 9: 72,514,972 (GRCm39) V157I probably damaging Het
Sele G A 1: 163,879,403 (GRCm39) C312Y probably damaging Het
Sorcs3 A G 19: 48,736,758 (GRCm39) T694A probably benign Het
Tma16 G T 8: 66,933,097 (GRCm39) Q95K probably benign Het
Vmn1r191 T C 13: 22,362,890 (GRCm39) D288G probably damaging Het
Vmn1r231 A T 17: 21,110,828 (GRCm39) I29N possibly damaging Het
Vmn2r1 T A 3: 64,012,389 (GRCm39) L750* probably null Het
Other mutations in Arpc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4016:Arpc5 UTSW 1 152,644,607 (GRCm39) unclassified probably benign
R4133:Arpc5 UTSW 1 152,644,622 (GRCm39) missense probably benign 0.06
R6307:Arpc5 UTSW 1 152,647,206 (GRCm39) missense possibly damaging 0.49
R7439:Arpc5 UTSW 1 152,647,187 (GRCm39) missense probably damaging 0.99
R8539:Arpc5 UTSW 1 152,642,552 (GRCm39) missense probably damaging 1.00
R9210:Arpc5 UTSW 1 152,642,603 (GRCm39) missense probably null 0.00
Posted On 2015-04-16