Incidental Mutation 'R6544:Actr2'
ID 521035
Institutional Source Beutler Lab
Gene Symbol Actr2
Ensembl Gene ENSMUSG00000020152
Gene Name ARP2 actin-related protein 2
Synonyms 4921510D23Rik, Arp2, D6Ertd746e
MMRRC Submission 044670-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R6544 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 20012304-20062913 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20050933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 17 (F17L)
Ref Sequence ENSEMBL: ENSMUSP00000000137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000137]
AlphaFold P61161
Predicted Effect probably damaging
Transcript: ENSMUST00000000137
AA Change: F17L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000137
Gene: ENSMUSG00000020152
AA Change: F17L

DomainStartEndE-ValueType
ACTIN 6 390 2.78e-208 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134779
Meta Mutation Damage Score 0.6439 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005K14Rik T A 1: 83,036,678 (GRCm39) K118* probably null Het
Adam26b T C 8: 43,974,818 (GRCm39) I61M probably damaging Het
Ahcyl A C 16: 45,975,147 (GRCm39) S77A probably benign Het
Ahnak2 A G 12: 112,746,829 (GRCm39) probably benign Het
Angptl3 T C 4: 98,919,675 (GRCm39) L145P probably damaging Het
Ank2 T C 3: 126,726,871 (GRCm39) T808A probably damaging Het
Ark2c T A 18: 77,650,931 (GRCm39) probably benign Het
Cadm3 A G 1: 173,194,977 (GRCm39) probably null Het
Cog7 C T 7: 121,534,966 (GRCm39) R573Q probably damaging Het
Dchs1 T A 7: 105,407,385 (GRCm39) I2110F probably damaging Het
Fbxo47 G A 11: 97,747,089 (GRCm39) R326C probably damaging Het
Frmpd1 A T 4: 45,279,024 (GRCm39) D583V probably damaging Het
Gigyf1 T A 5: 137,523,321 (GRCm39) L911Q probably damaging Het
Gprin1 G A 13: 54,888,124 (GRCm39) A50V possibly damaging Het
Grik4 A T 9: 42,459,024 (GRCm39) Y571* probably null Het
Gucy2e A G 11: 69,126,483 (GRCm39) V299A probably benign Het
Hectd2 C T 19: 36,589,728 (GRCm39) L618F probably damaging Het
Lactbl1 A T 4: 136,360,300 (GRCm39) I160F possibly damaging Het
Lats1 T A 10: 7,577,434 (GRCm39) V186D possibly damaging Het
Lmtk2 A G 5: 144,110,624 (GRCm39) H448R possibly damaging Het
Map10 T C 8: 126,398,113 (GRCm39) I502T probably benign Het
Mok A G 12: 110,777,189 (GRCm39) F239S probably damaging Het
Mprip G A 11: 59,648,552 (GRCm39) G752D probably benign Het
Naip5 C A 13: 100,359,652 (GRCm39) G528V possibly damaging Het
Neu2 T C 1: 87,524,464 (GRCm39) W150R probably damaging Het
Or1ak2 T A 2: 36,827,539 (GRCm39) M136K possibly damaging Het
Or5an1 T C 19: 12,260,519 (GRCm39) Y36H probably damaging Het
Or5as1 T A 2: 86,980,207 (GRCm39) Y266F probably damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Pip5k1c T A 10: 81,144,830 (GRCm39) Y224N probably damaging Het
Plch1 T C 3: 63,758,399 (GRCm39) E5G probably damaging Het
Pspc1 T C 14: 57,001,660 (GRCm39) *59W probably null Het
Ptprq T C 10: 107,444,102 (GRCm39) T1501A probably damaging Het
Rorb G T 19: 18,929,614 (GRCm39) P304T possibly damaging Het
Scn7a A T 2: 66,514,444 (GRCm39) L1110Q probably damaging Het
Serpine2 C T 1: 79,780,847 (GRCm39) probably null Het
Slco1c1 A G 6: 141,477,170 (GRCm39) probably null Het
Smarca2 T A 19: 26,608,331 (GRCm39) V130D probably damaging Het
Sox17 G T 1: 4,562,655 (GRCm39) P117T possibly damaging Het
Sparcl1 A T 5: 104,240,310 (GRCm39) Y371* probably null Het
Tdpoz2 T C 3: 93,559,267 (GRCm39) D235G possibly damaging Het
Tns2 A C 15: 102,022,269 (GRCm39) K1182N possibly damaging Het
Tpte G T 8: 22,805,121 (GRCm39) probably null Het
Ttn A T 2: 76,799,503 (GRCm39) I459K possibly damaging Het
Wdr97 T C 15: 76,242,478 (GRCm39) Y823H probably benign Het
Zc3h15 G A 2: 83,491,492 (GRCm39) R240H probably benign Het
Zfp455 C A 13: 67,355,121 (GRCm39) L130I probably benign Het
Zfp777 A T 6: 48,021,419 (GRCm39) S68T probably damaging Het
Other mutations in Actr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Actr2 APN 11 20,044,370 (GRCm39) missense probably benign 0.03
IGL00164:Actr2 APN 11 20,030,015 (GRCm39) splice site probably benign
IGL00566:Actr2 APN 11 20,022,487 (GRCm39) missense possibly damaging 0.92
IGL00822:Actr2 APN 11 20,044,367 (GRCm39) missense probably damaging 1.00
IGL02993:Actr2 APN 11 20,022,514 (GRCm39) missense probably damaging 1.00
IGL03330:Actr2 APN 11 20,041,330 (GRCm39) missense probably benign 0.01
R0092:Actr2 UTSW 11 20,044,308 (GRCm39) missense probably benign 0.00
R0129:Actr2 UTSW 11 20,050,939 (GRCm39) splice site probably benign
R0513:Actr2 UTSW 11 20,030,124 (GRCm39) missense probably damaging 1.00
R0848:Actr2 UTSW 11 20,022,584 (GRCm39) missense probably benign 0.02
R0863:Actr2 UTSW 11 20,030,760 (GRCm39) missense probably benign 0.00
R5175:Actr2 UTSW 11 20,030,114 (GRCm39) missense probably benign 0.25
R5364:Actr2 UTSW 11 20,050,797 (GRCm39) intron probably benign
R7330:Actr2 UTSW 11 20,022,544 (GRCm39) missense probably damaging 1.00
R8340:Actr2 UTSW 11 20,044,435 (GRCm39) missense possibly damaging 0.52
R9542:Actr2 UTSW 11 20,044,350 (GRCm39) missense probably benign 0.01
R9599:Actr2 UTSW 11 20,030,745 (GRCm39) missense probably damaging 1.00
X0021:Actr2 UTSW 11 20,030,702 (GRCm39) missense probably damaging 0.99
X0066:Actr2 UTSW 11 20,030,066 (GRCm39) missense probably benign 0.05
X0066:Actr2 UTSW 11 20,030,065 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TATGCAAGAAGACTTTACGGCAC -3'
(R):5'- TCTCAAGTGTTCTGACAGTCC -3'

Sequencing Primer
(F):5'- CAAGAAGACTTTACGGCACTAATATG -3'
(R):5'- AAGTGTTCTGACAGTCCTCCAGG -3'
Posted On 2018-06-06