Incidental Mutation 'R1070:Actr3b'
ID 86159
Institutional Source Beutler Lab
Gene Symbol Actr3b
Ensembl Gene ENSMUSG00000056367
Gene Name ARP3 actin-related protein 3B
Synonyms Arp3b, ARP11
MMRRC Submission 039156-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.665) question?
Stock # R1070 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 25964995-26055686 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 26053491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088244] [ENSMUST00000128727]
AlphaFold Q641P0
Predicted Effect probably benign
Transcript: ENSMUST00000088244
SMART Domains Protein: ENSMUSP00000085578
Gene: ENSMUSG00000056367

DomainStartEndE-ValueType
ACTIN 5 413 1.33e-178 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128727
SMART Domains Protein: ENSMUSP00000121629
Gene: ENSMUSG00000056367

DomainStartEndE-ValueType
ACTIN 1 325 1.27e-111 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.7%
Validation Efficiency 95% (41/43)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,520,263 (GRCm39) D1367G probably damaging Het
Agtr1b A T 3: 20,369,912 (GRCm39) N231K probably benign Het
Bach1 T C 16: 87,517,009 (GRCm39) S517P probably benign Het
Blzf1 A G 1: 164,131,499 (GRCm39) probably benign Het
Bptf G T 11: 106,945,881 (GRCm39) Q2453K possibly damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Heatr4 T C 12: 84,024,841 (GRCm39) T327A possibly damaging Het
Hes1 T C 16: 29,886,101 (GRCm39) I235T probably damaging Het
Hmcn1 T A 1: 150,565,341 (GRCm39) D2262V probably damaging Het
Ifi208 C T 1: 173,510,610 (GRCm39) A255V probably damaging Het
Inhbe T C 10: 127,187,382 (GRCm39) I11M probably benign Het
Ipo9 T C 1: 135,334,281 (GRCm39) E315G possibly damaging Het
Itih1 G T 14: 30,664,413 (GRCm39) probably benign Het
Kcnk2 A G 1: 188,988,960 (GRCm39) probably benign Het
Kdm4c T A 4: 74,291,865 (GRCm39) Y827* probably null Het
Kif5a T C 10: 127,081,275 (GRCm39) T220A probably benign Het
Krt78 A G 15: 101,854,728 (GRCm39) Y1028H possibly damaging Het
Ldc1 T C 4: 130,112,949 (GRCm39) E149G probably benign Het
Mylk4 T C 13: 32,908,801 (GRCm39) D333G probably benign Het
Net1 A T 13: 3,962,930 (GRCm39) S45T probably benign Het
Npat T A 9: 53,483,892 (GRCm39) F1403I probably damaging Het
Or5h25 A G 16: 58,930,182 (GRCm39) S264P probably benign Het
Or5p57 T C 7: 107,665,858 (GRCm39) D49G probably benign Het
Or7a35 C T 10: 78,853,684 (GRCm39) P176L probably damaging Het
Pcif1 T C 2: 164,731,058 (GRCm39) Y404H probably benign Het
Pdzd2 A G 15: 12,390,052 (GRCm39) probably null Het
Rab3a A G 8: 71,209,840 (GRCm39) N40S probably damaging Het
Raf1 T C 6: 115,614,660 (GRCm39) N74D probably benign Het
Rap1gap2 A G 11: 74,327,853 (GRCm39) V139A possibly damaging Het
Rdh12 T C 12: 79,260,522 (GRCm39) L206P probably damaging Het
Rimoc1 C A 15: 4,015,848 (GRCm39) V239F probably benign Het
Sdhb T C 4: 140,698,547 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Strip1 T C 3: 107,534,724 (GRCm39) E102G possibly damaging Het
Sult2a8 T A 7: 14,147,698 (GRCm39) I198F probably damaging Het
Tars3 T C 7: 65,305,444 (GRCm39) S223P probably damaging Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Vcam1 C T 3: 115,904,552 (GRCm39) V732M possibly damaging Het
Vmn2r79 T C 7: 86,652,681 (GRCm39) Y458H 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
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
R7043:Actr3b UTSW 5 26,054,936 (GRCm39) missense probably benign 0.40
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'- TGTAGGCAGAGACTGGACCATCAC -3'
(R):5'- TCAGACAAATCACAGGGCGTAGC -3'

Sequencing Primer
(F):5'- TGGACCATCACAGGCACTC -3'
(R):5'- TCTTGGATGAGCACGGC -3'
Posted On 2013-11-18