Incidental Mutation 'IGL01139:Actr3'
ID 50340
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Actr3
Ensembl Gene ENSMUSG00000026341
Gene Name ARP3 actin-related protein 3
Synonyms Arp3, 1200003A09Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01139
Quality Score
Status
Chromosome 1
Chromosomal Location 125320642-125363464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125333622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 215 (I215N)
Ref Sequence ENSEMBL: ENSMUSP00000140535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027579] [ENSMUST00000178474] [ENSMUST00000185280] [ENSMUST00000187460] [ENSMUST00000188497] [ENSMUST00000191004] [ENSMUST00000191578] [ENSMUST00000191544]
AlphaFold Q99JY9
Predicted Effect probably damaging
Transcript: ENSMUST00000027579
AA Change: I215N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027579
Gene: ENSMUSG00000026341
AA Change: I215N

DomainStartEndE-ValueType
ACTIN 5 413 1.62e-186 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000178474
AA Change: I215N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137503
Gene: ENSMUSG00000026341
AA Change: I215N

DomainStartEndE-ValueType
ACTIN 5 413 1.62e-186 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185280
SMART Domains Protein: ENSMUSP00000140082
Gene: ENSMUSG00000026341

DomainStartEndE-ValueType
Pfam:Actin 1 70 2.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187460
SMART Domains Protein: ENSMUSP00000140000
Gene: ENSMUSG00000026341

DomainStartEndE-ValueType
ACTIN 5 161 3.4e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188497
AA Change: I215N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140535
Gene: ENSMUSG00000026341
AA Change: I215N

DomainStartEndE-ValueType
ACTIN 5 216 7.6e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189192
Predicted Effect probably benign
Transcript: ENSMUST00000191004
SMART Domains Protein: ENSMUSP00000140953
Gene: ENSMUSG00000026341

DomainStartEndE-ValueType
Pfam:Actin 2 129 2.1e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191578
Predicted Effect probably benign
Transcript: ENSMUST00000191544
SMART Domains Protein: ENSMUSP00000139674
Gene: ENSMUSG00000026341

DomainStartEndE-ValueType
ACTIN 1 155 2.8e-9 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. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele die prior to E4.5 and exhibit abnormal embryogenesis. [provided by MGI curators]
Allele List at MGI

All alleles(12) : Gene trapped(12)
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,504,259 (GRCm39) Y297* probably null Het
Ambn C T 5: 88,612,376 (GRCm39) probably benign Het
Arhgef1 T A 7: 24,625,376 (GRCm39) probably benign Het
Arid1a A C 4: 133,421,308 (GRCm39) S832R unknown Het
Clca4a A T 3: 144,672,030 (GRCm39) I304N probably damaging Het
Dmxl2 G A 9: 54,366,248 (GRCm39) P274S probably damaging Het
Eif4enif1 T A 11: 3,171,143 (GRCm39) D211E probably damaging Het
Eri2 A G 7: 119,385,960 (GRCm39) probably null Het
Fhod3 C T 18: 25,199,401 (GRCm39) P691S probably benign Het
Flnb A G 14: 7,945,989 (GRCm38) S2465G probably damaging Het
Ftsj1 G A X: 8,112,831 (GRCm39) R171C probably damaging Het
Glb1l3 G A 9: 26,729,523 (GRCm39) T648I probably benign Het
Gm4222 T A 2: 89,978,889 (GRCm39) probably benign Het
Gm5475 G A 15: 100,322,096 (GRCm39) probably benign Het
Jaml C A 9: 45,012,317 (GRCm39) T268N possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Lrba A G 3: 86,549,969 (GRCm39) T217A possibly damaging Het
Ltn1 A G 16: 87,212,897 (GRCm39) S555P probably benign Het
Map3k15 T A X: 158,855,875 (GRCm39) M350K probably damaging Het
Mipol1 C A 12: 57,352,821 (GRCm39) Y53* probably null Het
Mn1 A G 5: 111,569,315 (GRCm39) D1095G probably damaging Het
Myh14 T C 7: 44,255,716 (GRCm39) probably benign Het
Nrn1 A G 13: 36,914,190 (GRCm39) C31R probably damaging Het
Nup210 A T 6: 91,007,079 (GRCm39) L579H possibly damaging Het
Nxf2 T C X: 133,851,145 (GRCm39) I578V probably benign Het
Obscn G A 11: 58,969,178 (GRCm39) A172V probably damaging Het
Or10h1b T A 17: 33,395,756 (GRCm39) Y123N probably damaging Het
Or9g4 T G 2: 85,504,841 (GRCm39) Y218S probably damaging Het
Phtf1 A G 3: 103,912,918 (GRCm39) D748G probably damaging Het
Psd3 A T 8: 68,361,187 (GRCm39) Y863N probably damaging Het
Psmc6 C T 14: 45,581,167 (GRCm39) T321I probably benign Het
Rassf6 T C 5: 90,756,825 (GRCm39) *31W probably null Het
Rictor A C 15: 6,807,749 (GRCm39) K791Q probably damaging Het
Slc12a9 C T 5: 137,321,104 (GRCm39) M470I probably damaging Het
Tex28 A T X: 73,194,830 (GRCm39) M367K possibly damaging Het
Thnsl2 A T 6: 71,115,718 (GRCm39) V163D probably damaging Het
Tmco3 G A 8: 13,369,887 (GRCm39) R633Q possibly damaging Het
Trf A T 9: 103,100,803 (GRCm39) V224D probably damaging Het
Ttc8 C T 12: 98,930,804 (GRCm39) Q273* probably null Het
Usp9x A G X: 12,970,815 (GRCm39) probably benign Het
Vmn2r117 A G 17: 23,696,778 (GRCm39) W210R probably damaging Het
Vmn2r5 A G 3: 64,398,826 (GRCm39) S718P probably benign Het
Vps13a T C 19: 16,617,989 (GRCm39) D2932G probably damaging Het
Whamm T C 7: 81,245,662 (GRCm39) L706P probably damaging Het
Yeats2 G A 16: 20,033,143 (GRCm39) V45I probably damaging Het
Yipf3 G A 17: 46,561,383 (GRCm39) probably null Het
Zeb1 T C 18: 5,705,061 (GRCm39) V26A possibly damaging Het
Other mutations in Actr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Actr3 APN 1 125,324,966 (GRCm39) missense probably benign 0.00
IGL00574:Actr3 APN 1 125,339,011 (GRCm39) missense probably damaging 1.00
IGL00715:Actr3 APN 1 125,322,813 (GRCm39) missense probably damaging 0.96
IGL01897:Actr3 APN 1 125,346,025 (GRCm39) missense possibly damaging 0.54
P0023:Actr3 UTSW 1 125,322,803 (GRCm39) critical splice donor site probably null
R0217:Actr3 UTSW 1 125,335,150 (GRCm39) splice site probably benign
R0660:Actr3 UTSW 1 125,336,304 (GRCm39) missense probably benign 0.40
R1494:Actr3 UTSW 1 125,344,018 (GRCm39) missense probably benign 0.06
R1582:Actr3 UTSW 1 125,333,662 (GRCm39) missense probably benign 0.01
R1589:Actr3 UTSW 1 125,336,300 (GRCm39) missense probably damaging 1.00
R3432:Actr3 UTSW 1 125,321,776 (GRCm39) missense probably damaging 1.00
R5810:Actr3 UTSW 1 125,344,116 (GRCm39) intron probably benign
R6089:Actr3 UTSW 1 125,335,132 (GRCm39) missense probably damaging 1.00
R6276:Actr3 UTSW 1 125,322,874 (GRCm39) missense probably benign
R7120:Actr3 UTSW 1 125,331,169 (GRCm39) nonsense probably null
R9533:Actr3 UTSW 1 125,339,048 (GRCm39) missense probably benign 0.00
Posted On 2013-06-21