Incidental Mutation 'R3432:Actr3'
ID 266221
Institutional Source Beutler Lab
Gene Symbol Actr3
Ensembl Gene ENSMUSG00000026341
Gene Name ARP3 actin-related protein 3
Synonyms Arp3, 1200003A09Rik
MMRRC Submission 040650-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3432 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 125320642-125363464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 125321776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 405 (P405S)
Ref Sequence ENSEMBL: ENSMUSP00000137503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027579] [ENSMUST00000178474] [ENSMUST00000191578]
AlphaFold Q99JY9
Predicted Effect probably damaging
Transcript: ENSMUST00000027579
AA Change: P405S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027579
Gene: ENSMUSG00000026341
AA Change: P405S

DomainStartEndE-ValueType
ACTIN 5 413 1.62e-186 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000178474
AA Change: P405S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137503
Gene: ENSMUSG00000026341
AA Change: P405S

DomainStartEndE-ValueType
ACTIN 5 413 1.62e-186 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188362
Predicted Effect probably benign
Transcript: ENSMUST00000191578
Meta Mutation Damage Score 0.2455 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 98% (44/45)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 A G 5: 89,855,312 (GRCm39) probably benign Het
Angptl2 T C 2: 33,118,814 (GRCm39) V196A probably benign Het
Aoc1 A T 6: 48,882,778 (GRCm39) H240L probably damaging Het
Arsj A T 3: 126,158,624 (GRCm39) T68S probably benign Het
Atp8b3 T C 10: 80,362,014 (GRCm39) K708E probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Ceacam5 T A 7: 17,448,901 (GRCm39) V89E probably benign Het
Cpt1b T C 15: 89,307,944 (GRCm39) E205G possibly damaging Het
Dhrs7c C T 11: 67,700,699 (GRCm39) T82I probably benign Het
Efs C T 14: 55,157,681 (GRCm39) R117Q probably damaging Het
Evl T C 12: 108,614,567 (GRCm39) probably benign Het
Fam89b A T 19: 5,781,761 (GRCm39) probably null Het
Fbxo16 T C 14: 65,531,233 (GRCm39) F46L probably damaging Het
Glp1r T A 17: 31,143,531 (GRCm39) L189H probably damaging Het
Gstp1 G A 19: 4,086,695 (GRCm39) T110I possibly damaging Het
Hbq1a T G 11: 32,250,715 (GRCm39) S133A probably benign Het
Hhipl1 A G 12: 108,277,948 (GRCm39) E92G probably damaging Het
Il18r1 C T 1: 40,526,249 (GRCm39) T265M probably damaging Het
Lpp T C 16: 24,708,636 (GRCm39) V447A probably benign Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mmel1 C T 4: 154,969,955 (GRCm39) probably benign Het
Myo5c A G 9: 75,170,283 (GRCm39) E471G probably damaging Het
Obscn A G 11: 58,922,003 (GRCm39) L317P probably damaging Het
Or8b57 A T 9: 40,003,845 (GRCm39) M139K probably damaging Het
Psg18 A G 7: 18,083,096 (GRCm39) V232A possibly damaging Het
Ptprt T C 2: 161,769,449 (GRCm39) E472G probably damaging Het
Rap2a G T 14: 120,741,170 (GRCm39) A158S possibly damaging Het
Rbm15 A T 3: 107,237,993 (GRCm39) S802T probably benign Het
Sec14l5 A G 16: 4,996,463 (GRCm39) I470V possibly damaging Het
Serpinb1a T C 13: 33,026,842 (GRCm39) T367A possibly damaging Het
Sirpb1a A G 3: 15,491,447 (GRCm39) W7R probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Taf5 A C 19: 47,064,272 (GRCm39) K405T probably damaging Het
Tbc1d19 T C 5: 54,005,548 (GRCm39) probably benign Het
Trim58 T C 11: 58,537,787 (GRCm39) probably benign Het
Tssk4 A G 14: 55,889,152 (GRCm39) N226S probably damaging Het
Uggt1 C A 1: 36,249,140 (GRCm39) E267* probably null Het
Zdhhc23 T A 16: 43,794,533 (GRCm39) probably benign Het
Zfp407 G A 18: 84,226,871 (GRCm39) A2246V probably damaging Het
Zfp872 C T 9: 22,111,750 (GRCm39) R410* probably null 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
IGL01139:Actr3 APN 1 125,333,622 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGAAAACAATCGTCTTAGCTCTC -3'
(R):5'- TCCAAAAGCCATGAATCGACTG -3'

Sequencing Primer
(F):5'- ACATCTGCATGTTGACACACTC -3'
(R):5'- CCTCTCAAATGCATTGTTCT -3'
Posted On 2015-02-18