Incidental Mutation 'IGL00087:Actr2'
ID 1194
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actr2
Ensembl Gene ENSMUSG00000020152
Gene Name ARP2 actin-related protein 2
Synonyms 4921510D23Rik, Arp2, D6Ertd746e
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # IGL00087
Quality Score
Status
Chromosome 11
Chromosomal Location 20012304-20062913 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 20044370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 79 (V79L)
Ref Sequence ENSEMBL: ENSMUSP00000000137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000137]
AlphaFold P61161
Predicted Effect probably benign
Transcript: ENSMUST00000000137
AA Change: V79L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000000137
Gene: ENSMUSG00000020152
AA Change: V79L

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik C A 3: 121,473,282 (GRCm39) probably benign Het
Ankrd36 A C 11: 5,570,131 (GRCm39) Y533S probably benign Het
Btnl1 A T 17: 34,600,091 (GRCm39) D198V probably damaging Het
Carmil2 T A 8: 106,418,038 (GRCm39) I684N probably benign Het
Cdk17 T A 10: 93,062,633 (GRCm39) V257D probably damaging Het
Ctsj T G 13: 61,149,232 (GRCm39) S271R possibly damaging Het
Cul9 T A 17: 46,836,635 (GRCm39) Q1130L probably damaging Het
Daam1 G T 12: 71,988,993 (GRCm39) S131I unknown Het
Dab1 G A 4: 104,536,007 (GRCm39) V139M probably damaging Het
Dab1 A T 4: 104,535,950 (GRCm39) I120F possibly damaging Het
Dnah2 A G 11: 69,383,498 (GRCm39) V1142A possibly damaging Het
Dsg1b C T 18: 20,529,533 (GRCm39) T326I probably damaging Het
Eif3k A C 7: 28,674,101 (GRCm39) probably benign Het
Fam76b T C 9: 13,748,180 (GRCm39) V3A possibly damaging Het
Fitm2 A G 2: 163,311,712 (GRCm39) V167A probably benign Het
Gfap T A 11: 102,779,544 (GRCm39) I418F possibly damaging Het
Grm5 T C 7: 87,779,989 (GRCm39) V1143A probably benign Het
Itpr2 A G 6: 146,298,510 (GRCm39) I317T probably damaging Het
Itprid1 T A 6: 55,945,022 (GRCm39) L581Q possibly damaging Het
Kcnn2 A C 18: 45,725,303 (GRCm39) R266S probably damaging Het
Kntc1 T A 5: 123,928,222 (GRCm39) S1240T probably benign Het
Lmnb2 T C 10: 80,739,871 (GRCm39) D490G possibly damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Pax9 A G 12: 56,746,860 (GRCm39) N232S probably benign Het
Pdcd6ip A G 9: 113,526,586 (GRCm39) S108P possibly damaging Het
Pitpnc1 T C 11: 107,103,469 (GRCm39) E210G possibly damaging Het
Prdm10 T C 9: 31,272,108 (GRCm39) probably benign Het
Prl4a1 G A 13: 28,205,443 (GRCm39) G136E probably damaging Het
Pstpip2 A G 18: 77,961,994 (GRCm39) S255G probably benign Het
Rimbp3 T G 16: 17,027,607 (GRCm39) S344A probably benign Het
Rint1 A G 5: 23,999,429 (GRCm39) T73A probably benign Het
Rnf145 T C 11: 44,446,039 (GRCm39) V291A possibly damaging Het
Rrm1 T A 7: 102,103,714 (GRCm39) L221* probably null Het
Scn11a A G 9: 119,599,572 (GRCm39) L1114P probably benign Het
Slc44a4 A G 17: 35,149,216 (GRCm39) probably benign Het
Sorl1 A C 9: 41,885,390 (GRCm39) N2070K probably damaging Het
Spaca7 C T 8: 12,630,941 (GRCm39) probably benign Het
Speer1k C T 5: 10,997,805 (GRCm39) probably benign Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Srsf6 G T 2: 162,773,627 (GRCm39) V13F probably damaging Het
Stab1 G T 14: 30,883,314 (GRCm39) T336N probably benign Het
Strbp A G 2: 37,476,516 (GRCm39) probably benign Het
Tbc1d4 A G 14: 101,845,548 (GRCm39) F117L probably damaging Het
Tcf20 A G 15: 82,739,096 (GRCm39) V785A probably damaging Het
Ticrr A G 7: 79,327,031 (GRCm39) K580E probably damaging Het
Ubr4 A T 4: 139,192,633 (GRCm39) E4225D possibly damaging Het
Uck1 A T 2: 32,149,681 (GRCm39) V66D probably damaging Het
Vmn2r25 A G 6: 123,830,130 (GRCm39) F7S probably benign Het
Zan C T 5: 137,386,082 (GRCm39) probably null Het
Zfp819 T A 7: 43,261,403 (GRCm39) probably benign Het
Other mutations in Actr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6544:Actr2 UTSW 11 20,050,933 (GRCm39) missense probably damaging 1.00
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
Posted On 2011-07-12