Incidental Mutation 'R1870:Arpc1a'
ID 210635
Institutional Source Beutler Lab
Gene Symbol Arpc1a
Ensembl Gene ENSMUSG00000029621
Gene Name actin related protein 2/3 complex, subunit 1A
Synonyms Sid32, 1110030K07Rik, 0610010H08Rik
MMRRC Submission 039892-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.846) question?
Stock # R1870 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 145020679-145045566 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 145043901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 344 (C344S)
Ref Sequence ENSEMBL: ENSMUSP00000031625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031625] [ENSMUST00000127694]
AlphaFold Q9R0Q6
Predicted Effect possibly damaging
Transcript: ENSMUST00000031625
AA Change: C344S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031625
Gene: ENSMUSG00000029621
AA Change: C344S

DomainStartEndE-ValueType
Blast:WD40 1 36 1e-18 BLAST
WD40 41 80 2.55e-6 SMART
WD40 89 124 1.1e2 SMART
WD40 134 170 1.46e-1 SMART
WD40 191 232 4.62e-1 SMART
WD40 235 273 9.51e1 SMART
WD40 312 356 3.68e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127694
SMART Domains Protein: ENSMUSP00000143026
Gene: ENSMUSG00000029621

DomainStartEndE-ValueType
Blast:WD40 1 36 2e-18 BLAST
WD40 41 80 1.6e-8 SMART
WD40 89 124 6.8e-1 SMART
WD40 134 170 8.9e-4 SMART
WD40 191 232 2.8e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142276
Meta Mutation Damage Score 0.1433 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.1%
Validation Efficiency 97% (96/99)
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 ARPC1B. 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,242,134 (GRCm39) E1332D probably benign Het
Abca5 C A 11: 110,220,043 (GRCm39) V8L probably benign Het
Abcc8 C T 7: 45,773,339 (GRCm39) E797K probably benign Het
Acd C A 8: 106,425,039 (GRCm39) probably null Het
Adam34l A T 8: 44,078,132 (GRCm39) Y697* probably null Het
Adamts12 T C 15: 11,311,240 (GRCm39) S1166P probably benign Het
Alox12b T C 11: 69,049,199 (GRCm39) Y83H possibly damaging Het
Antxr2 A T 5: 98,178,297 (GRCm39) S38T probably damaging Het
Aox1 A G 1: 58,115,262 (GRCm39) E749G probably damaging Het
Bcan T C 3: 87,902,908 (GRCm39) Y290C probably damaging Het
Bod1l G A 5: 41,991,018 (GRCm39) S179F possibly damaging Het
Catsper3 A C 13: 55,953,561 (GRCm39) D224A probably damaging Het
Ccar2 A G 14: 70,377,946 (GRCm39) S680P probably damaging Het
Ccdc18 A G 5: 108,368,703 (GRCm39) H1275R possibly damaging Het
Ccdc40 T C 11: 119,150,730 (GRCm39) M1011T possibly damaging Het
Cfap46 T A 7: 139,263,386 (GRCm39) D17V probably damaging Het
Csn1s2a T C 5: 87,926,058 (GRCm39) F45L probably benign Het
Cwf19l2 T G 9: 3,458,802 (GRCm39) N750K possibly damaging Het
Cyb5r4 A G 9: 86,922,462 (GRCm39) D157G probably benign Het
D130040H23Rik T A 8: 69,755,354 (GRCm39) I253N probably benign Het
Dennd4a C T 9: 64,804,516 (GRCm39) A1285V probably benign Het
Dlat A G 9: 50,548,874 (GRCm39) S561P probably damaging Het
Dlgap2 T A 8: 14,823,347 (GRCm39) V522E probably damaging Het
Dnah5 T A 15: 28,331,859 (GRCm39) Y2148* probably null Het
Dnase2a T C 8: 85,635,392 (GRCm39) probably benign Het
Elapor2 A G 5: 9,468,007 (GRCm39) E225G probably damaging Het
Fam83f T C 15: 80,574,113 (GRCm39) probably benign Het
Firrm G A 1: 163,792,363 (GRCm39) L545F probably damaging Het
Foxi1 A T 11: 34,157,937 (GRCm39) N29K possibly damaging Het
Galk2 T C 2: 125,817,183 (GRCm39) L324P probably benign Het
Gdpd4 G A 7: 97,622,162 (GRCm39) V214I probably benign Het
Gfra3 C T 18: 34,844,373 (GRCm39) A56T probably damaging Het
Glyctk A G 9: 106,032,547 (GRCm39) S489P probably damaging Het
Izumo4 A T 10: 80,539,569 (GRCm39) I135F probably damaging Het
Krt87 T A 15: 101,385,071 (GRCm39) T342S probably benign Het
L1td1 T A 4: 98,625,714 (GRCm39) D636E possibly damaging Het
Letm2 A G 8: 26,086,460 (GRCm39) probably benign Het
Lpin1 A G 12: 16,591,744 (GRCm39) F828L probably damaging Het
Lrrc37 T C 11: 103,511,431 (GRCm39) D179G unknown Het
Mdn1 T A 4: 32,763,339 (GRCm39) D5146E probably damaging Het
Megf10 T A 18: 57,324,257 (GRCm39) Y99* probably null Het
Men1 A G 19: 6,387,660 (GRCm39) D285G probably damaging Het
Mertk T G 2: 128,643,116 (GRCm39) D838E probably benign Het
Mta1 T C 12: 113,091,694 (GRCm39) S266P possibly damaging Het
Mta3 G A 17: 84,089,397 (GRCm39) V320M probably damaging Het
Nlrp9c G A 7: 26,084,245 (GRCm39) Q445* probably null Het
Or2m12 A T 16: 19,105,357 (GRCm39) N45K probably damaging Het
Or51e1 T C 7: 102,358,961 (GRCm39) I165T possibly damaging Het
Or8b38 A T 9: 37,972,646 (GRCm39) K10I probably benign Het
Or8d6 T G 9: 39,854,117 (GRCm39) I187R probably damaging Het
Pbrm1 T A 14: 30,828,132 (GRCm39) L1320I probably damaging Het
Pdzd2 G T 15: 12,457,972 (GRCm39) T297K probably damaging Het
Pfas T C 11: 68,882,795 (GRCm39) D782G probably damaging Het
Pik3c3 T C 18: 30,426,185 (GRCm39) probably null Het
Pira2 T C 7: 3,847,452 (GRCm39) N79S probably damaging Het
Pkdrej G T 15: 85,700,632 (GRCm39) T1768K probably damaging Het
Plcb3 T C 19: 6,940,353 (GRCm39) I439V probably benign Het
Pold4 T A 19: 4,282,593 (GRCm39) Y58* probably null Het
Ppef2 T G 5: 92,398,371 (GRCm39) Q49P probably damaging Het
Ralgapa1 T A 12: 55,723,817 (GRCm39) I2026F possibly damaging Het
Rest T A 5: 77,416,209 (GRCm39) V141E possibly damaging Het
Rnf139 T C 15: 58,771,202 (GRCm39) V409A probably benign Het
Rnpc3 T C 3: 113,404,704 (GRCm39) probably benign Het
S100a10 A T 3: 93,468,377 (GRCm39) E36V probably benign Het
S1pr3 A C 13: 51,573,952 (GRCm39) K378Q probably benign Het
Scaper T A 9: 55,593,222 (GRCm39) I472F probably damaging Het
Sgcg G A 14: 61,477,896 (GRCm39) probably benign Het
Shank1 A T 7: 43,991,539 (GRCm39) R69* probably null Het
Shoc1 G A 4: 59,054,142 (GRCm39) probably benign Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Slc25a54 T A 3: 108,987,932 (GRCm39) Y24* probably null Het
Slc29a4 T C 5: 142,707,243 (GRCm39) *529R probably null Het
Slc41a2 G A 10: 83,137,029 (GRCm39) Q293* probably null Het
Slc4a7 T C 14: 14,737,509 (GRCm38) probably null Het
Slfn9 G T 11: 82,872,402 (GRCm39) T778N probably benign Het
Ssr2 T C 3: 88,483,949 (GRCm39) probably benign Het
Tecrl T A 5: 83,502,706 (GRCm39) T33S probably benign Het
Tnfrsf9 T A 4: 151,018,804 (GRCm39) C158* probably null Het
Tradd T C 8: 105,985,792 (GRCm39) E253G possibly damaging Het
Usp34 A G 11: 23,314,479 (GRCm39) H807R probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r27 T C 6: 124,201,170 (GRCm39) I262M probably benign Het
Vps13a A G 19: 16,737,316 (GRCm39) V91A probably damaging Het
Vwf C T 6: 125,619,902 (GRCm39) R1527C probably damaging Het
Wwc1 C T 11: 35,752,772 (GRCm39) G763D probably damaging Het
Zfp526 T G 7: 24,924,594 (GRCm39) D284E possibly damaging Het
Zfp646 T C 7: 127,483,021 (GRCm39) F1733L possibly damaging Het
Zfp90 A G 8: 107,145,755 (GRCm39) H29R probably benign Het
Zkscan4 A G 13: 21,668,104 (GRCm39) E185G probably benign Het
Other mutations in Arpc1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01503:Arpc1a APN 5 145,032,964 (GRCm39) missense probably damaging 1.00
IGL02672:Arpc1a APN 5 145,041,697 (GRCm39) missense probably damaging 0.99
R0068:Arpc1a UTSW 5 145,028,054 (GRCm39) missense possibly damaging 0.62
R0068:Arpc1a UTSW 5 145,028,054 (GRCm39) missense possibly damaging 0.62
R1347:Arpc1a UTSW 5 145,034,082 (GRCm39) missense probably damaging 1.00
R1347:Arpc1a UTSW 5 145,034,082 (GRCm39) missense probably damaging 1.00
R1446:Arpc1a UTSW 5 145,037,896 (GRCm39) splice site probably null
R1871:Arpc1a UTSW 5 145,043,901 (GRCm39) missense possibly damaging 0.80
R2154:Arpc1a UTSW 5 145,029,369 (GRCm39) missense probably benign 0.33
R2385:Arpc1a UTSW 5 145,041,333 (GRCm39) splice site probably null
R3698:Arpc1a UTSW 5 145,033,001 (GRCm39) missense probably damaging 0.98
R6462:Arpc1a UTSW 5 145,045,197 (GRCm39) missense probably benign 0.01
R6720:Arpc1a UTSW 5 145,038,032 (GRCm39) splice site probably null
R6825:Arpc1a UTSW 5 145,032,936 (GRCm39) nonsense probably null
R7174:Arpc1a UTSW 5 145,034,087 (GRCm39) missense probably benign 0.38
R7473:Arpc1a UTSW 5 145,037,886 (GRCm39) missense probably benign
R7619:Arpc1a UTSW 5 145,041,668 (GRCm39) missense probably benign 0.36
R7775:Arpc1a UTSW 5 145,041,622 (GRCm39) missense probably benign 0.00
R9433:Arpc1a UTSW 5 145,045,203 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- GTTACAGCCTAAGACTGATGGATGTG -3'
(R):5'- TTAGATTCTGGGCCAGCTCC -3'

Sequencing Primer
(F):5'- ACTGATGGATGTGTTGATATTCAAG -3'
(R):5'- GCAACTGACACTGTATTTCAAGAAGG -3'
Posted On 2014-06-30