Incidental Mutation 'IGL00822:Actr2'
ID8561
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: 0.953) question?
Stock #IGL00822
Quality Score
Status
Chromosome11
Chromosomal Location20062304-20112913 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 20094367 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 80 (R80W)
Ref Sequence ENSEMBL: ENSMUSP00000000137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000137]
Predicted Effect probably damaging
Transcript: ENSMUST00000000137
AA Change: R80W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000137
Gene: ENSMUSG00000020152
AA Change: R80W

DomainStartEndE-ValueType
ACTIN 6 390 2.78e-208 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132022
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T C 8: 60,535,758 S332P probably benign Het
Abcb4 T C 5: 8,950,046 F1005L probably benign Het
Adck1 T C 12: 88,455,516 I299T probably damaging Het
Armc4 A T 18: 7,181,817 L836M probably damaging Het
Camk2g C T 14: 20,737,330 G500S probably damaging Het
Car15 A T 16: 17,836,634 M146K probably damaging Het
Cyp4f39 A G 17: 32,470,832 N84S probably benign Het
Dock8 G T 19: 25,188,409 E1886* probably null Het
Kansl2 T C 15: 98,528,853 probably benign Het
Klc2 A T 19: 5,111,513 V323E probably damaging Het
Lrrc7 A G 3: 158,185,474 V352A probably damaging Het
Lrrc8c G T 5: 105,608,308 A650S probably benign Het
Ltbp1 A G 17: 75,151,321 Y299C probably damaging Het
Myh13 A G 11: 67,361,328 T1421A probably damaging Het
Myl3 C A 9: 110,766,489 T56K possibly damaging Het
Nod1 T C 6: 54,944,946 Y129C probably damaging Het
Otog G A 7: 46,295,880 S2187N probably benign Het
Pank4 G A 4: 154,980,602 R786H possibly damaging Het
Sag A G 1: 87,845,026 probably null Het
Scn2b G A 9: 45,125,544 V117M probably damaging Het
Sec16b G T 1: 157,564,555 A886S probably benign Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Spns3 A T 11: 72,499,353 probably null Het
Styk1 T C 6: 131,301,662 K350E possibly damaging Het
Tns3 G A 11: 8,443,976 T1291I probably damaging Het
Xntrpc A G 7: 102,084,368 I175V probably damaging Het
Zfp106 G A 2: 120,514,160 R1745C probably damaging 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
IGL00566:Actr2 APN 11 20072487 missense possibly damaging 0.92
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 On2012-12-06