Incidental Mutation 'IGL00566:Actr2'
ID332631
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actr2
Ensembl Gene ENSMUSG00000020152
Gene NameARP2 actin-related protein 2
Synonyms4921510D23Rik, D6Ertd746e, Arp2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.937) question?
Stock #IGL00566
Quality Score
Status
Chromosome11
Chromosomal Location20062304-20112913 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 20072487 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 328 (R328L)
Ref Sequence ENSEMBL: ENSMUSP00000000137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000137]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000137
AA Change: R328L

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000137
Gene: ENSMUSG00000020152
AA Change: R328L

DomainStartEndE-ValueType
ACTIN 6 390 2.78e-208 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,625,391 T173A possibly damaging Het
Acaa2 G A 18: 74,793,378 G135E probably damaging Het
Adam1b T C 5: 121,500,993 D663G probably damaging Het
Adcy10 A T 1: 165,551,914 E915V probably benign Het
Antxr2 G A 5: 97,886,607 probably benign Het
Ckap5 T A 2: 91,568,627 probably benign Het
Clec4g T C 8: 3,716,410 probably benign Het
Cramp1l A G 17: 24,983,951 V368A probably benign Het
Diaph3 C T 14: 87,002,871 R248K probably benign Het
Fut10 T C 8: 31,235,684 Y156H probably damaging Het
Ice2 T C 9: 69,416,113 V630A probably benign Het
Ints13 A T 6: 146,565,676 V179D probably damaging Het
Kcnj2 A C 11: 111,071,827 E15A probably damaging Het
Kif1bp G T 10: 62,559,339 S508* probably null Het
Lpcat2b T A 5: 107,433,804 L333Q probably damaging Het
Lrguk A C 6: 34,056,174 L258F probably damaging Het
M6pr A T 6: 122,313,378 K100M probably damaging Het
Nop14 T C 5: 34,641,313 probably benign Het
Pcdh20 A G 14: 88,467,881 V661A possibly damaging Het
Vcan A T 13: 89,688,979 H2815Q probably benign Het
Other mutations in Actr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Actr2 APN 11 20094370 missense probably benign 0.03
IGL00164:Actr2 APN 11 20080015 splice site probably benign
IGL00822:Actr2 APN 11 20094367 missense probably damaging 1.00
IGL02993:Actr2 APN 11 20072514 missense probably damaging 1.00
IGL03330:Actr2 APN 11 20091330 missense probably benign 0.01
R0092:Actr2 UTSW 11 20094308 missense probably benign 0.00
R0129:Actr2 UTSW 11 20100939 splice site probably benign
R0513:Actr2 UTSW 11 20080124 missense probably damaging 1.00
R0848:Actr2 UTSW 11 20072584 missense probably benign 0.02
R0863:Actr2 UTSW 11 20080760 missense probably benign 0.00
R5175:Actr2 UTSW 11 20080114 missense probably benign 0.25
R5364:Actr2 UTSW 11 20100797 intron probably benign
R6544:Actr2 UTSW 11 20100933 missense probably damaging 1.00
R7330:Actr2 UTSW 11 20072544 missense probably damaging 1.00
X0021:Actr2 UTSW 11 20080702 missense probably damaging 0.99
X0066:Actr2 UTSW 11 20080065 missense probably benign 0.00
X0066:Actr2 UTSW 11 20080066 missense probably benign 0.05
Posted On2015-08-05