Incidental Mutation 'R7043:Actr3b'
ID 547152
Institutional Source Beutler Lab
Gene Symbol Actr3b
Ensembl Gene ENSMUSG00000056367
Gene Name ARP3 actin-related protein 3B
Synonyms Arp3b, ARP11
MMRRC Submission 045142-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.665) question?
Stock # R7043 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 25964995-26055686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26054936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 329 (M329V)
Ref Sequence ENSEMBL: ENSMUSP00000121629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088244] [ENSMUST00000128727]
AlphaFold Q641P0
Predicted Effect probably benign
Transcript: ENSMUST00000088244
AA Change: M417V

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000085578
Gene: ENSMUSG00000056367
AA Change: M417V

DomainStartEndE-ValueType
ACTIN 5 413 1.33e-178 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128727
AA Change: M329V

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121629
Gene: ENSMUSG00000056367
AA Change: M329V

DomainStartEndE-ValueType
ACTIN 1 325 1.27e-111 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,484,474 (GRCm39) L1596P probably damaging Het
Avpr1a C T 10: 122,285,586 (GRCm39) R293C probably damaging Het
Bdp1 A T 13: 100,215,215 (GRCm39) C390S probably benign Het
C2cd2l A T 9: 44,227,848 (GRCm39) M131K probably damaging Het
Ccna2 T C 3: 36,624,302 (GRCm39) probably benign Het
Cd53 T C 3: 106,670,577 (GRCm39) D152G probably damaging Het
Cdpf1 A T 15: 85,692,485 (GRCm39) V66E probably null Het
Chd9 G T 8: 91,760,843 (GRCm39) probably benign Het
Crybg2 A G 4: 133,818,447 (GRCm39) D1710G probably benign Het
Dst A G 1: 34,296,992 (GRCm39) T5794A probably damaging Het
Eif2s1 G T 12: 78,923,882 (GRCm39) R113L probably damaging Het
Eif5 A G 12: 111,511,030 (GRCm39) D423G probably benign Het
Eri1 A C 8: 35,945,792 (GRCm39) D164E probably damaging Het
F7 A T 8: 13,083,997 (GRCm39) R227S probably benign Het
Gm14496 T G 2: 181,642,120 (GRCm39) I597S possibly damaging Het
Gpr85 T A 6: 13,835,876 (GRCm39) N343Y probably damaging Het
H2-T23 A T 17: 36,342,803 (GRCm39) S112T probably damaging Het
Itga9 C T 9: 118,598,184 (GRCm39) P573S probably damaging Het
Kcnb2 A T 1: 15,383,150 (GRCm39) M159L probably benign Het
Kmt5b T A 19: 3,865,220 (GRCm39) S738R possibly damaging Het
Lrp1b T C 2: 40,812,426 (GRCm39) N2393S possibly damaging Het
Mme T A 3: 63,252,638 (GRCm39) Y427* probably null Het
Naip1 A G 13: 100,563,422 (GRCm39) V581A probably damaging Het
Ndel1 A G 11: 68,713,450 (GRCm39) L329P possibly damaging Het
Nthl1 T G 17: 24,857,644 (GRCm39) V281G probably benign Het
Or52ab2 C A 7: 102,970,292 (GRCm39) probably benign Het
Per2 G T 1: 91,347,130 (GRCm39) H1197Q probably benign Het
Phf8-ps T C 17: 33,284,306 (GRCm39) D832G possibly damaging Het
Plec G A 15: 76,093,328 (GRCm39) probably benign Het
Prpf6 A T 2: 181,291,297 (GRCm39) H704L probably benign Het
Recql5 C T 11: 115,821,502 (GRCm39) probably null Het
Rimbp3 G A 16: 17,028,972 (GRCm39) V799M probably damaging Het
Sema3f C T 9: 107,568,599 (GRCm39) A169T possibly damaging Het
Serpinb9f T C 13: 33,509,970 (GRCm39) I54T possibly damaging Het
Skint5 A T 4: 113,574,304 (GRCm39) L749Q unknown Het
Slc35g3 T C 11: 69,652,476 (GRCm39) D12G probably benign Het
Sptbn1 A G 11: 30,053,323 (GRCm39) V2252A probably benign Het
Stab2 T C 10: 86,706,110 (GRCm39) N1750S probably damaging Het
Supt5 C A 7: 28,019,435 (GRCm39) R543L probably benign Het
Syne1 T C 10: 5,022,193 (GRCm39) E7806G possibly damaging Het
Syt12 T A 19: 4,501,049 (GRCm39) M334L probably benign Het
Tk1 A G 11: 117,706,779 (GRCm39) *234R probably null Het
Trp73 T G 4: 154,151,464 (GRCm39) probably null Het
Ttn A G 2: 76,727,477 (GRCm39) probably benign Het
Vmn2r11 T C 5: 109,200,098 (GRCm39) I452V probably benign Het
Wwox G T 8: 115,406,578 (GRCm39) V190L probably damaging Het
Wwp2 A G 8: 108,184,532 (GRCm39) H80R probably benign Het
Zc3h3 A G 15: 75,681,485 (GRCm39) I532T probably damaging Het
Zfp280d A G 9: 72,226,539 (GRCm39) K328E probably damaging Het
Zfp365 A G 10: 67,745,656 (GRCm39) S41P probably damaging Het
Other mutations in Actr3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02457:Actr3b APN 5 26,054,160 (GRCm39) splice site probably null
IGL02582:Actr3b APN 5 26,037,411 (GRCm39) missense probably benign 0.11
IGL02869:Actr3b APN 5 26,037,433 (GRCm39) missense probably damaging 1.00
IGL02946:Actr3b APN 5 26,053,481 (GRCm39) missense possibly damaging 0.50
R0443:Actr3b UTSW 5 26,053,409 (GRCm39) missense probably damaging 0.99
R0446:Actr3b UTSW 5 26,036,730 (GRCm39) missense probably damaging 0.98
R0727:Actr3b UTSW 5 26,016,937 (GRCm39) missense possibly damaging 0.89
R1070:Actr3b UTSW 5 26,053,491 (GRCm39) splice site probably benign
R1643:Actr3b UTSW 5 26,017,009 (GRCm39) missense probably damaging 1.00
R1820:Actr3b UTSW 5 26,054,156 (GRCm39) critical splice donor site probably null
R1837:Actr3b UTSW 5 26,030,157 (GRCm39) missense probably benign 0.00
R1899:Actr3b UTSW 5 26,034,536 (GRCm39) missense possibly damaging 0.71
R2041:Actr3b UTSW 5 25,965,128 (GRCm39) critical splice donor site probably null
R2096:Actr3b UTSW 5 26,036,743 (GRCm39) nonsense probably null
R2109:Actr3b UTSW 5 26,036,709 (GRCm39) missense possibly damaging 0.89
R2256:Actr3b UTSW 5 26,027,403 (GRCm39) missense possibly damaging 0.88
R3078:Actr3b UTSW 5 26,027,440 (GRCm39) missense probably damaging 1.00
R5572:Actr3b UTSW 5 26,014,886 (GRCm39) missense probably benign 0.00
R5655:Actr3b UTSW 5 26,053,366 (GRCm39) missense probably damaging 1.00
R6190:Actr3b UTSW 5 26,036,688 (GRCm39) missense probably benign
R6761:Actr3b UTSW 5 26,030,137 (GRCm39) missense probably damaging 1.00
R7003:Actr3b UTSW 5 26,003,461 (GRCm39) missense probably damaging 1.00
R7649:Actr3b UTSW 5 26,053,364 (GRCm39) missense probably benign 0.05
R7897:Actr3b UTSW 5 26,036,657 (GRCm39) missense probably benign 0.37
R8691:Actr3b UTSW 5 26,030,202 (GRCm39) missense possibly damaging 0.94
R9647:Actr3b UTSW 5 26,037,408 (GRCm39) missense probably benign
R9797:Actr3b UTSW 5 26,054,895 (GRCm39) missense probably benign 0.00
RF049:Actr3b UTSW 5 26,053,486 (GRCm39) critical splice donor site probably benign
Predicted Primers PCR Primer
(F):5'- GCGAAGTAAACTGCCTGGTTTG -3'
(R):5'- TTTACTGGGAAGACCGTGC -3'

Sequencing Primer
(F):5'- TACTGTGATTGGCAGGGACCC -3'
(R):5'- GGAAGACCGTGCCTGGC -3'
Posted On 2019-05-13