Incidental Mutation 'IGL00233:Arpc5'
ID306846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arpc5
Ensembl Gene ENSMUSG00000008475
Gene Nameactin related protein 2/3 complex, subunit 5
Synonymsp16-Arc, 5830443F10Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.671) question?
Stock #IGL00233
Quality Score
Status
Chromosome1
Chromosomal Location152766542-152775597 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 152768907 bp
ZygosityHeterozygous
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]
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: 132,677,143 probably benign Het
C030048H21Rik G A 2: 26,256,620 R1227W probably damaging Het
Cacnb1 T C 11: 98,022,364 E21G possibly damaging Het
Catsper3 A G 13: 55,798,822 K111E possibly damaging Het
Cda T C 4: 138,367,846 Y33C probably damaging Het
Celsr3 A T 9: 108,848,925 R3118W probably damaging Het
Clvs1 G A 4: 9,281,939 G128R probably damaging Het
Col9a1 A G 1: 24,185,225 S163G unknown Het
Cyp4v3 T C 8: 45,307,003 D64G probably benign Het
Dst C A 1: 34,251,839 L837M probably damaging Het
Eif2ak4 T A 2: 118,464,055 I1349N probably damaging Het
Elob C A 17: 23,824,980 probably null Het
Glipr1 T A 10: 111,985,650 I216L probably benign Het
Gm3238 C T 10: 77,771,292 probably benign Het
Gm43638 C T 5: 87,460,399 R527H probably damaging Het
H2-M11 A G 17: 36,547,553 K80E probably benign Het
Htt A G 5: 34,896,026 probably null Het
Kif26a A G 12: 112,157,632 S224G probably damaging Het
Mgat5b T A 11: 116,931,662 M74K probably damaging Het
Ms4a7 A T 19: 11,322,360 V89D probably damaging Het
Nlrx1 G A 9: 44,264,068 T137I probably benign Het
Pcdhb12 A G 18: 37,436,982 T394A probably benign Het
Pkhd1l1 T C 15: 44,477,586 I151T probably damaging Het
Plcl1 T C 1: 55,406,536 V50A probably benign Het
Prkd2 T C 7: 16,865,862 F750S probably damaging Het
Psmd13 T C 7: 140,897,621 V311A probably damaging Het
Rec8 C T 14: 55,623,515 Q334* probably null Het
Rfx7 G A 9: 72,607,690 V157I probably damaging Het
Sele G A 1: 164,051,834 C312Y probably damaging Het
Sorcs3 A G 19: 48,748,319 T694A probably benign Het
Tma16 G T 8: 66,480,445 Q95K probably benign Het
Vmn1r191 T C 13: 22,178,720 D288G probably damaging Het
Vmn1r231 A T 17: 20,890,566 I29N possibly damaging Het
Vmn2r1 T A 3: 64,104,968 L750* probably null Het
Other mutations in Arpc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4016:Arpc5 UTSW 1 152768856 unclassified probably benign
R4133:Arpc5 UTSW 1 152768871 missense probably benign 0.06
R6307:Arpc5 UTSW 1 152771455 missense possibly damaging 0.49
R7439:Arpc5 UTSW 1 152771436 missense probably damaging 0.99
Posted On2015-04-16