|Institutional Source||Beutler Lab|
|Gene Name||ARP2 actin-related protein 2|
|Synonyms||4921510D23Rik, D6Ertd746e, Arp2|
|Is this an essential gene?||Probably essential (E-score: 0.942)|
|Stock #||R0863 (G1)|
|Chromosomal Location||20062304-20112913 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 20080760 bp|
|Amino Acid Change||Valine to Isoleucine at position 163 (V163I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000137 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000137]|
|Predicted Effect||probably benign
AA Change: V163I
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: V163I
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||94% (59/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for this mutation exhibit modifies lethality associated with F5 null Tfpi heterozygous mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Actr2||
(F):5'- TTGCTGTCTATGCCCGACAACC -3'
(R):5'- GGAAATGCTGGCTCTAAGCCTCAC -3'
(F):5'- tctatgcccgacaacctaaac -3'
(R):5'- ACTAGCCACCTTTTTGTGGG -3'