Mutagenetix > Incidental Mutation

Incidental Mutation 'R0827:Arpc1b'

78305

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

039007-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0827 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

145051066-145064996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 145062566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 227 (C227G)

Ref Sequence

ENSEMBL: ENSMUSP00000143438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031627] [ENSMUST00000085679] [ENSMUST00000136074] [ENSMUST00000196111] [ENSMUST00000141602]

AlphaFold

Q9WV32

Predicted Effect

probably benign
Transcript: ENSMUST00000031627

SMART Domains

Protein: ENSMUSP00000031627
Gene: ENSMUSG00000029623

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	28	47	N/A	INTRINSIC
low complexity region	52	69	N/A	INTRINSIC
Pfam:PP28	84	163	3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085679
AA Change: C227G

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000082822
Gene: ENSMUSG00000029622
AA Change: C227G

Domain	Start	End	E-Value	Type
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: ENSMUST00000123111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129033

Predicted Effect

probably benign
Transcript: ENSMUST00000136074
AA Change: C178G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115022
Gene: ENSMUSG00000029622
AA Change: C178G

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000196111
AA Change: C227G

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143438
Gene: ENSMUSG00000029622
AA Change: C227G

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000138235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138900

Predicted Effect

probably benign
Transcript: ENSMUST00000138922

SMART Domains

Protein: ENSMUSP00000115515
Gene: ENSMUSG00000029622

Domain	Start	End	E-Value	Type
PDB:2P9U\|C	2	93	4e-43	PDB
SCOP:d1k8kc_	35	93	2e-11	SMART
Blast:WD40	50	87	3e-20	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000141602

SMART Domains

Protein: ENSMUSP00000122340
Gene: ENSMUSG00000029622

Domain	Start	End	E-Value	Type
Blast:WD40	1	36	2e-15	BLAST
PDB:2P9U\|C	1	56	2e-33	PDB
SCOP:d1k8kc_	9	56	2e-6	SMART

Meta Mutation Damage Score

0.1614

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.6%

Validation Efficiency

100% (88/88)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,749,419 (GRCm39)	S1397P	probably benign	Het
Adamts15	T	C	9: 30,832,776 (GRCm39)	Y253C	probably damaging	Het
Ankk1	A	G	9: 49,333,037 (GRCm39)	I149T	possibly damaging	Het
Ankrd63	A	G	2: 118,533,034 (GRCm39)	S296P	possibly damaging	Het
B4gat1	A	G	19: 5,089,725 (GRCm39)	R241G	possibly damaging	Het
Ccar2	T	C	14: 70,377,287 (GRCm39)	N751D	probably benign	Het
Cd55b	T	C	1: 130,341,973 (GRCm39)	I221M	probably damaging	Het
Cntn5	A	G	9: 9,666,943 (GRCm39)	V1032A	possibly damaging	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Colec10	G	A	15: 54,325,980 (GRCm39)	C270Y	probably damaging	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cyp2j12	T	G	4: 96,001,099 (GRCm39)		probably benign	Het
Dennd5a	G	A	7: 109,498,938 (GRCm39)	T999M	probably damaging	Het
Dusp13b	C	A	14: 21,792,839 (GRCm39)	V29L	probably benign	Het
Efr3a	A	C	15: 65,725,400 (GRCm39)	D83A	possibly damaging	Het
Elmod2	A	G	8: 84,043,424 (GRCm39)		probably null	Het
Eml3	C	A	19: 8,915,830 (GRCm39)	T640K	probably damaging	Het
Eps8l1	T	C	7: 4,480,388 (GRCm39)	V543A	possibly damaging	Het
Ermn	T	C	2: 57,938,263 (GRCm39)	K117E	probably damaging	Het
F830045P16Rik	A	G	2: 129,314,696 (GRCm39)	S194P	probably benign	Het
Faim2	A	G	15: 99,422,617 (GRCm39)	V60A	probably benign	Het
Fancd2	G	A	6: 113,563,210 (GRCm39)		probably null	Het
Fbxo43	A	T	15: 36,163,115 (GRCm39)	S31T	possibly damaging	Het
Gab2	G	A	7: 96,949,539 (GRCm39)	R411Q	probably damaging	Het
Gpm6a	A	T	8: 55,511,918 (GRCm39)	D264V	probably damaging	Het
H1f6	A	G	13: 23,880,204 (GRCm39)	D119G	probably benign	Het
Hsp90aa1	T	C	12: 110,659,129 (GRCm39)	E556G	probably benign	Het
Ifi203	A	T	1: 173,756,029 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnc3	A	G	7: 44,244,630 (GRCm39)	T307A	probably damaging	Het
Kin	C	A	2: 10,095,187 (GRCm39)		probably benign	Het
Knl1	T	C	2: 118,919,382 (GRCm39)		probably benign	Het
Lrp4	G	A	2: 91,325,386 (GRCm39)	V1404M	probably damaging	Het
Lrrc71	T	A	3: 87,649,952 (GRCm39)		probably null	Het
Med13l	T	C	5: 118,864,312 (GRCm39)		probably benign	Het
Mfap5	A	G	6: 122,497,879 (GRCm39)	D39G	probably damaging	Het
Mlxipl	T	C	5: 135,161,592 (GRCm39)	S504P	probably benign	Het
Myo3a	T	G	2: 22,448,227 (GRCm39)	Y1D	probably damaging	Het
Nek1	A	G	8: 61,558,682 (GRCm39)		probably benign	Het
Nfkbiz	T	C	16: 55,636,730 (GRCm39)	R524G	probably damaging	Het
Npbwr1	T	C	1: 5,987,008 (GRCm39)	T169A	possibly damaging	Het
Nuggc	T	C	14: 65,846,340 (GRCm39)	Y84H	probably damaging	Het
Nxph3	G	A	11: 95,402,252 (GRCm39)	S54L	probably benign	Het
Or13a21	A	G	7: 139,999,380 (GRCm39)	F102S	probably damaging	Het
Or9e1	T	C	11: 58,732,597 (GRCm39)	I219T	probably damaging	Het
Ostn	A	G	16: 27,143,381 (GRCm39)	N70D	probably damaging	Het
Pate7	A	T	9: 35,689,147 (GRCm39)	L12Q	probably damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pnpla6	A	T	8: 3,567,618 (GRCm39)	M109L	possibly damaging	Het
Ppil6	T	A	10: 41,370,500 (GRCm39)		probably benign	Het
Prss46	A	G	9: 110,680,500 (GRCm39)	N215S	probably benign	Het
Ptprd	A	T	4: 76,047,152 (GRCm39)	D371E	probably damaging	Het
Ripor2	T	A	13: 24,878,169 (GRCm39)	F315I	probably damaging	Het
Rmi2	G	A	16: 10,653,104 (GRCm39)	G51S	probably damaging	Het
Scg3	A	G	9: 75,590,979 (GRCm39)	I10T	possibly damaging	Het
Scn9a	T	A	2: 66,366,468 (GRCm39)	K761*	probably null	Het
Scyl2	A	G	10: 89,493,727 (GRCm39)	L347P	possibly damaging	Het
Sh3d21	A	G	4: 126,046,064 (GRCm39)		probably benign	Het
Shc1	T	A	3: 89,334,090 (GRCm39)		probably null	Het
Slbp	A	G	5: 33,801,166 (GRCm39)	S182P	probably damaging	Het
Slc24a1	C	T	9: 64,835,472 (GRCm39)	G885D	probably benign	Het
Slc24a3	T	C	2: 145,360,412 (GRCm39)		probably benign	Het
Sowahb	T	G	5: 93,191,145 (GRCm39)	N525H	probably damaging	Het
Sppl3	T	A	5: 115,220,392 (GRCm39)	C101*	probably null	Het
Srsf5	A	G	12: 80,996,314 (GRCm39)	K163E	probably damaging	Het
Sult2a4	A	G	7: 13,718,886 (GRCm39)	I119T	probably benign	Het
Svep1	A	G	4: 58,053,113 (GRCm39)		probably benign	Het
Tas1r3	G	A	4: 155,945,326 (GRCm39)	R632W	probably benign	Het
Tlr4	T	A	4: 66,752,117 (GRCm39)		probably null	Het
Tmf1	A	C	6: 97,135,011 (GRCm39)	L1001*	probably null	Het
Tnnt2	A	G	1: 135,771,534 (GRCm39)		probably benign	Het
Trank1	G	A	9: 111,178,485 (GRCm39)		probably benign	Het
Trdn	A	T	10: 33,275,154 (GRCm39)		probably benign	Het
Trmt6	A	T	2: 132,657,754 (GRCm39)	V34E	probably damaging	Het
Trrap	T	C	5: 144,751,640 (GRCm39)	F1699L	probably benign	Het
Ttk	A	G	9: 83,725,968 (GRCm39)	R250G	probably benign	Het
Ttn	T	A	2: 76,640,248 (GRCm39)	I13787F	probably damaging	Het
Uggt1	T	A	1: 36,195,394 (GRCm39)		probably null	Het
Ugt2b35	T	A	5: 87,155,989 (GRCm39)		probably benign	Het
Ugt2b36	C	A	5: 87,214,234 (GRCm39)	R470L	possibly damaging	Het
Unk	A	G	11: 115,943,935 (GRCm39)	D352G	possibly damaging	Het
Vmn2r77	G	T	7: 86,451,224 (GRCm39)	C370F	probably damaging	Het
Vmn2r85	A	G	10: 130,265,387 (GRCm39)	I32T	possibly damaging	Het
Zfp637	A	G	6: 117,822,405 (GRCm39)	I178V	possibly damaging	Het
Zfp943	A	G	17: 22,211,071 (GRCm39)		probably null	Het
Zyg11a	A	G	4: 108,067,239 (GRCm39)		probably benign	Het

Other mutations in Arpc1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R1946: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'- AGCAGAGGCTCAGACTCCATCAAG -3'
(R):5'- AGTGGTAATGTCTCAGAGGCCAGG -3'

Sequencing Primer
(F):5'- TGAATATGCCAGTCCCTCAGG -3'
(R):5'- GGTTGCCACGCTGAAAG -3'

Posted On

2013-10-16