Incidental Mutation 'R1946:Arpc1b'
ID 216668
Institutional Source Beutler Lab
Gene Symbol Arpc1b
Ensembl Gene ENSMUSG00000029622
Gene Name actin related protein 2/3 complex, subunit 1B
Synonyms L72, p41-ARC, SOP2Hs
MMRRC Submission 039964-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1946 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 145051066-145064996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 145059443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 56 (T56A)
Ref Sequence ENSEMBL: ENSMUSP00000122340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085679] [ENSMUST00000136074] [ENSMUST00000196111] [ENSMUST00000141602] [ENSMUST00000141602]
AlphaFold Q9WV32
Predicted Effect probably benign
Transcript: ENSMUST00000085679
AA Change: T56A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000082822
Gene: ENSMUSG00000029622
AA Change: T56A

DomainStartEndE-ValueType
Blast:WD40 1 36 4e-14 BLAST
WD40 41 80 1.21e-7 SMART
WD40 85 124 1.54e0 SMART
WD40 130 170 1.56e-1 SMART
WD40 191 230 7.7e-1 SMART
Blast:WD40 233 271 9e-18 BLAST
WD40 317 358 3.55e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129033
Predicted Effect probably benign
Transcript: ENSMUST00000136074
SMART Domains Protein: ENSMUSP00000115022
Gene: ENSMUSG00000029622

DomainStartEndE-ValueType
Pfam:WD40 3 29 2.5e-3 PFAM
WD40 77 121 1.79e-1 SMART
WD40 142 181 7.7e-1 SMART
Blast:WD40 184 222 1e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138235
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138900
Predicted Effect possibly damaging
Transcript: ENSMUST00000196111
AA Change: T56A

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143438
Gene: ENSMUSG00000029622
AA Change: T56A

DomainStartEndE-ValueType
Blast:WD40 1 36 4e-14 BLAST
WD40 41 80 1.21e-7 SMART
WD40 85 124 1.54e0 SMART
WD40 130 170 1.56e-1 SMART
WD40 191 230 7.7e-1 SMART
Blast:WD40 237 275 2e-16 BLAST
WD40 321 362 3.55e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000141602
AA Change: T56A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122340
Gene: ENSMUSG00000029622
AA Change: T56A

DomainStartEndE-ValueType
Blast:WD40 1 36 2e-15 BLAST
PDB:2P9U|C 1 56 2e-33 PDB
SCOP:d1k8kc_ 9 56 2e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000141602
AA Change: T56A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122340
Gene: ENSMUSG00000029622
AA Change: T56A

DomainStartEndE-ValueType
Blast:WD40 1 36 2e-15 BLAST
PDB:2P9U|C 1 56 2e-33 PDB
SCOP:d1k8kc_ 9 56 2e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144375
Predicted Effect probably benign
Transcript: ENSMUST00000138922
SMART Domains Protein: ENSMUSP00000115515
Gene: ENSMUSG00000029622

DomainStartEndE-ValueType
PDB:2P9U|C 2 93 4e-43 PDB
SCOP:d1k8kc_ 35 93 2e-11 SMART
Blast:WD40 50 87 3e-20 BLAST
Meta Mutation Damage Score 0.6198 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,039,551 (GRCm39) S253P probably damaging Het
Adamts5 C A 16: 85,696,131 (GRCm39) C342F probably damaging Het
Adgrv1 C T 13: 81,522,368 (GRCm39) C5923Y probably damaging Het
Aen G C 7: 78,552,420 (GRCm39) E32Q probably damaging Het
Apba2 T C 7: 64,394,378 (GRCm39) probably null Het
Arhgap44 A G 11: 64,902,922 (GRCm39) M509T probably damaging Het
Atoh1 T C 6: 64,706,443 (GRCm39) V46A probably benign Het
Bmpr2 T C 1: 59,907,556 (GRCm39) V883A possibly damaging Het
Bpifa1 A T 2: 153,987,554 (GRCm39) I135F probably damaging Het
Bsn A G 9: 107,991,850 (GRCm39) F1301L probably damaging Het
Capn13 T C 17: 73,657,520 (GRCm39) E240G possibly damaging Het
Ccdc18 A G 5: 108,376,861 (GRCm39) E1434G probably damaging Het
Coq8b G A 7: 26,939,299 (GRCm39) V150I possibly damaging Het
Cpn1 G A 19: 43,944,957 (GRCm39) T450M probably benign Het
Dlg4 A G 11: 69,930,401 (GRCm39) Y432C probably damaging Het
Dnah8 C A 17: 30,931,359 (GRCm39) T1458K probably benign Het
Dock5 A T 14: 68,023,765 (GRCm39) M1132K probably damaging Het
Dsg2 A G 18: 20,713,605 (GRCm39) D192G probably damaging Het
F930017D23Rik G A 10: 43,469,440 (GRCm39) noncoding transcript Het
Fndc11 A T 2: 180,863,627 (GRCm39) D144V probably benign Het
Fut2 A G 7: 45,300,748 (GRCm39) F8S probably damaging Het
Gad2 A T 2: 22,575,440 (GRCm39) T515S probably benign Het
Ganab T A 19: 8,888,172 (GRCm39) D439E probably damaging Het
Gm10228 C A 16: 88,838,241 (GRCm39) G21V unknown Het
Grm3 A G 5: 9,562,123 (GRCm39) W576R probably damaging Het
Gsdmc4 C A 15: 63,774,629 (GRCm39) D51Y probably benign Het
Hmcn2 T C 2: 31,295,647 (GRCm39) S2619P probably damaging Het
Kcnq2 T A 2: 180,730,244 (GRCm39) D446V probably benign Het
Kera A G 10: 97,445,009 (GRCm39) K123E probably benign Het
Kmt2c A T 5: 25,520,152 (GRCm39) V1986E probably benign Het
Lrp11 T C 10: 7,499,540 (GRCm39) Y244H probably damaging Het
Lrp1b T A 2: 40,555,159 (GRCm39) D320V unknown Het
Lrrcc1 A G 3: 14,615,453 (GRCm39) R394G probably benign Het
Lrrk2 G A 15: 91,620,864 (GRCm39) probably null Het
Map4k5 A T 12: 69,892,529 (GRCm39) D133E probably damaging Het
Megf11 A T 9: 64,586,558 (GRCm39) D461V probably damaging Het
Msrb3 A G 10: 120,687,913 (GRCm39) V54A probably damaging Het
Muc21 A T 17: 35,933,416 (GRCm39) probably benign Het
Ncoa3 T A 2: 165,901,097 (GRCm39) N896K possibly damaging Het
Ncor2 G A 5: 125,111,476 (GRCm39) T1314I probably damaging Het
Nes A G 3: 87,885,821 (GRCm39) Q1316R possibly damaging Het
Nfe2l3 A C 6: 51,434,295 (GRCm39) Q285P probably damaging Het
Nkd1 C T 8: 89,318,745 (GRCm39) H357Y probably damaging Het
Nmt2 T A 2: 3,323,672 (GRCm39) I355N probably benign Het
Or10ak11 T C 4: 118,687,223 (GRCm39) N139S probably benign Het
Or1n1b A T 2: 36,780,458 (GRCm39) M134K possibly damaging Het
Or5ae1 T C 7: 84,565,487 (GRCm39) S167P probably benign Het
Or5b3 T C 19: 13,388,143 (GRCm39) V70A possibly damaging Het
Or7a38 T A 10: 78,752,758 (GRCm39) I28N probably damaging Het
Or8b3 T A 9: 38,314,182 (GRCm39) M1K probably null Het
Otx1 G T 11: 21,948,482 (GRCm39) T46K probably damaging Het
Panx1 A G 9: 14,918,822 (GRCm39) C346R probably benign Het
Pcdhb16 T A 18: 37,611,952 (GRCm39) L304* probably null Het
Plet1 A G 9: 50,415,652 (GRCm39) probably null Het
Plod2 A G 9: 92,489,188 (GRCm39) S707G probably damaging Het
Plscr4 G A 9: 92,365,889 (GRCm39) V120I probably damaging Het
Ppp1r12b A G 1: 134,820,008 (GRCm39) V245A probably damaging Het
Ppp2r2d A G 7: 138,470,196 (GRCm39) D19G probably damaging Het
Pramel31 T A 4: 144,088,435 (GRCm39) V77E probably benign Het
Rimbp3 G A 16: 17,028,291 (GRCm39) V572I probably benign Het
Ror2 T C 13: 53,285,885 (GRCm39) I110V probably damaging Het
Sec24d A T 3: 123,147,043 (GRCm39) H667L probably benign Het
Sema3d A G 5: 12,623,810 (GRCm39) Q573R probably damaging Het
Snx19 T A 9: 30,343,620 (GRCm39) N593K probably damaging Het
Sulf1 T C 1: 12,867,131 (GRCm39) V105A probably benign Het
Syngr3 T C 17: 24,906,680 (GRCm39) N45S probably benign Het
Tenm4 A T 7: 96,385,015 (GRCm39) H524L probably damaging Het
Tex30 C T 1: 44,130,564 (GRCm39) G68D probably damaging Het
Tmem43 A T 6: 91,463,891 (GRCm39) I389F probably benign Het
Trpm1 A T 7: 63,873,556 (GRCm39) N488Y probably damaging Het
Usf2 T C 7: 30,655,663 (GRCm39) T1A probably null Het
Vill A T 9: 118,887,560 (GRCm39) H108L probably benign Het
Vmn1r16 T C 6: 57,299,885 (GRCm39) I246V probably benign Het
Vmn1r188 T G 13: 22,272,815 (GRCm39) S256R possibly damaging Het
Zfp12 G A 5: 143,231,133 (GRCm39) E487K probably damaging Het
Zfp24 AC A 18: 24,147,476 (GRCm39) probably null Het
Other mutations in Arpc1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Arpc1b APN 5 145,064,679 (GRCm39) utr 3 prime probably benign
IGL01625:Arpc1b APN 5 145,058,555 (GRCm39) splice site probably null
IGL01859:Arpc1b APN 5 145,060,540 (GRCm39) missense probably damaging 0.98
illusory UTSW 5 145,059,377 (GRCm39) missense probably damaging 1.00
FR4304:Arpc1b UTSW 5 145,063,601 (GRCm39) frame shift probably null
FR4340:Arpc1b UTSW 5 145,063,602 (GRCm39) frame shift probably null
FR4737:Arpc1b UTSW 5 145,063,597 (GRCm39) frame shift probably null
R0110:Arpc1b UTSW 5 145,064,525 (GRCm39) missense probably damaging 1.00
R0245:Arpc1b UTSW 5 145,063,670 (GRCm39) missense probably damaging 1.00
R0469:Arpc1b UTSW 5 145,064,525 (GRCm39) missense probably damaging 1.00
R0652:Arpc1b UTSW 5 145,063,670 (GRCm39) missense probably damaging 1.00
R0827:Arpc1b UTSW 5 145,062,566 (GRCm39) missense probably benign 0.34
R1117:Arpc1b UTSW 5 145,062,564 (GRCm39) missense possibly damaging 0.95
R1453:Arpc1b UTSW 5 145,062,555 (GRCm39) missense probably damaging 1.00
R1895:Arpc1b UTSW 5 145,059,443 (GRCm39) missense probably null 0.99
R2050:Arpc1b UTSW 5 145,062,729 (GRCm39) missense probably damaging 1.00
R2112:Arpc1b UTSW 5 145,060,579 (GRCm39) missense probably damaging 0.99
R4924:Arpc1b UTSW 5 145,063,625 (GRCm39) missense probably benign 0.02
R6534:Arpc1b UTSW 5 145,059,377 (GRCm39) missense probably damaging 1.00
R6883:Arpc1b UTSW 5 145,063,739 (GRCm39) missense probably benign 0.31
R8523:Arpc1b UTSW 5 145,061,492 (GRCm39) missense probably damaging 1.00
R8854:Arpc1b UTSW 5 145,060,405 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTGGCTCTGGAAGAGTACTCTAG -3'
(R):5'- CCTCTCCTGAGCATCTAAGTGC -3'

Sequencing Primer
(F):5'- CTCTGGAAGAGTACTCTAGTGGAG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
Posted On 2014-08-01