|Institutional Source||Beutler Lab|
|Gene Name||actin related protein 2/3 complex, subunit 1A|
|Synonyms||Sid32, 0610010H08Rik, 1110030K07Rik|
|Is this an essential gene?||Probably essential (E-score: 0.867)|
|Stock #||R1870 (G1)|
|Chromosomal Location||145083830-145108761 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 145107091 bp|
|Amino Acid Change||Cysteine to Serine at position 344 (C344S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031625 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031625] [ENSMUST00000127694]|
|Predicted Effect||possibly damaging
AA Change: C344S
PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: C344S
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.102|
|Coding Region Coverage||
|Validation Efficiency||97% (96/99)|
|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. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arpc1a||
(F):5'- GTTACAGCCTAAGACTGATGGATGTG -3'
(R):5'- TTAGATTCTGGGCCAGCTCC -3'
(F):5'- ACTGATGGATGTGTTGATATTCAAG -3'
(R):5'- GCAACTGACACTGTATTTCAAGAAGG -3'