Mutagenetix > Incidental Mutation

Incidental Mutation 'R0245:Arpc1b'

36162

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

038483-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0245 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

145051066-145064996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145063670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 306 (D306G)

Ref Sequence

ENSEMBL: ENSMUSP00000082822 (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 damaging
Transcript: ENSMUST00000085679
AA Change: D306G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082822
Gene: ENSMUSG00000029622
AA Change: D306G

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

SMART Domains

Protein: ENSMUSP00000115022
Gene: ENSMUSG00000029622

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

unknown
Transcript: ENSMUST00000138922
AA Change: D34G

SMART Domains

Protein: ENSMUSP00000115515
Gene: ENSMUSG00000029622
AA Change: D34G

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

noncoding transcript
Transcript: ENSMUST00000138900

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196111
AA Change: D310G

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143438
Gene: ENSMUSG00000029622
AA Change: D310G

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: ENSMUST00000143439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144375

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

0.5738

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.9%

Validation Efficiency

99% (73/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 125,378,168 (GRCm39)		probably benign	Het
Actmap	T	A	7: 26,900,028 (GRCm39)	C98S	possibly damaging	Het
Adgrg6	T	A	10: 14,333,810 (GRCm39)		probably benign	Het
Adra2a	G	C	19: 54,035,840 (GRCm39)	V399L	probably damaging	Het
Asic3	C	A	5: 24,618,836 (GRCm39)	R43S	probably damaging	Het
Astn2	T	C	4: 65,712,795 (GRCm39)	D615G	probably damaging	Het
Btbd2	A	T	10: 80,483,640 (GRCm39)	Y178N	probably damaging	Het
Cacna1c	T	C	6: 118,581,415 (GRCm39)	N1647D	probably benign	Het
Cacna2d4	A	T	6: 119,285,682 (GRCm39)	D803V	probably damaging	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Cmpk2	A	T	12: 26,519,517 (GRCm39)	D56V	probably benign	Het
Dnah7a	T	C	1: 53,540,685 (GRCm39)	Y2563C	probably damaging	Het
Dock7	T	C	4: 98,943,586 (GRCm39)	D552G	possibly damaging	Het
E2f7	C	A	10: 110,610,656 (GRCm39)	S427*	probably null	Het
Eps8	T	C	6: 137,456,126 (GRCm39)	D785G	probably benign	Het
Ereg	G	A	5: 91,222,659 (GRCm39)	C14Y	possibly damaging	Het
Fah	A	C	7: 84,244,706 (GRCm39)	H222Q	probably benign	Het
Fbxw16	T	A	9: 109,265,236 (GRCm39)	S432C	possibly damaging	Het
Fdps	A	G	3: 89,001,078 (GRCm39)	S334P	possibly damaging	Het
Fgf7	A	G	2: 125,877,875 (GRCm39)	K81E	probably benign	Het
Gfra1	T	C	19: 58,288,986 (GRCm39)	N153S	possibly damaging	Het
Golga1	A	G	2: 38,925,271 (GRCm39)	V351A	probably benign	Het
Got1	A	T	19: 43,492,946 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,746,457 (GRCm39)	Y1271C	probably damaging	Het
Gtf3c4	A	G	2: 28,724,976 (GRCm39)	I252T	possibly damaging	Het
Gucy1a1	A	G	3: 82,016,094 (GRCm39)	I298T	possibly damaging	Het
Hivep1	A	G	13: 42,317,766 (GRCm39)	I2081V	possibly damaging	Het
Hps3	A	T	3: 20,066,960 (GRCm39)	C535*	probably null	Het
Hspg2	T	C	4: 137,242,033 (GRCm39)	F589S	probably damaging	Het
Itgb8	T	A	12: 119,154,290 (GRCm39)	N249I	probably damaging	Het
Itprid1	A	G	6: 55,874,992 (GRCm39)	E314G	probably damaging	Het
Kdm4a	T	C	4: 118,032,886 (GRCm39)	D60G	probably benign	Het
Kng2	A	T	16: 22,830,931 (GRCm39)		probably benign	Het
Marchf4	A	T	1: 72,573,940 (GRCm39)	D119E	probably benign	Het
Mrpl34	T	C	8: 71,917,719 (GRCm39)		probably benign	Het
Ncoa6	C	T	2: 155,233,131 (GRCm39)	G2059D	probably benign	Het
Nhsl1	A	G	10: 18,400,856 (GRCm39)	K660R	probably damaging	Het
Nr2c2ap	T	C	8: 70,584,228 (GRCm39)	V6A	possibly damaging	Het
Or10j3b	T	A	1: 173,043,524 (GRCm39)	I102N	possibly damaging	Het
Or4c29	C	A	2: 88,740,219 (GRCm39)	D173Y	possibly damaging	Het
Or4k52	A	G	2: 111,610,680 (GRCm39)	N5S	probably damaging	Het
Or5k14	A	T	16: 58,693,229 (GRCm39)	Y95N	probably benign	Het
Or7g33	C	A	9: 19,448,408 (GRCm39)	V273L	probably benign	Het
Oscar	C	T	7: 3,614,573 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,610,624 (GRCm39)	S1046G	probably benign	Het
Ptk6	T	C	2: 180,844,284 (GRCm39)	D5G	probably benign	Het
Rgs12	A	G	5: 35,187,424 (GRCm39)	H486R	probably benign	Het
Rnf111	C	T	9: 70,361,113 (GRCm39)		probably benign	Het
Rnf17	A	G	14: 56,676,066 (GRCm39)	Y309C	probably damaging	Het
Rnf19a	A	T	15: 36,253,178 (GRCm39)	I387N	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sdk1	A	G	5: 141,940,713 (GRCm39)	T494A	probably benign	Het
Serac1	G	T	17: 6,102,031 (GRCm39)	D384E	probably damaging	Het
Sez6l	T	C	5: 112,623,432 (GRCm39)	M40V	probably benign	Het
Slc17a5	A	G	9: 78,448,206 (GRCm39)	I416T	probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Spata32	C	T	11: 103,099,921 (GRCm39)	A195T	probably damaging	Het
Srrd	A	G	5: 112,485,394 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,067 (GRCm39)		probably benign	Het
Supt3	T	C	17: 45,347,662 (GRCm39)	V208A	probably benign	Het
Taok3	G	A	5: 117,390,744 (GRCm39)		probably benign	Het
Tbxas1	G	T	6: 39,004,702 (GRCm39)	R316S	probably benign	Het
Tgfbrap1	A	T	1: 43,114,752 (GRCm39)	I116N	possibly damaging	Het
Tm7sf3	T	C	6: 146,520,107 (GRCm39)	T260A	possibly damaging	Het
Top2a	T	C	11: 98,900,922 (GRCm39)	I556V	probably benign	Het
Uroc1	A	G	6: 90,321,179 (GRCm39)	M252V	probably damaging	Het
Xpo4	G	T	14: 57,867,697 (GRCm39)	H183Q	probably damaging	Het
Zcchc17	T	A	4: 130,230,947 (GRCm39)	I81L	probably benign	Het
Zfp455	A	T	13: 67,355,899 (GRCm39)	Y389F	probably damaging	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
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
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'- TCCATTTCCTGGTAGCCCTCAGAG -3'
(R):5'- AGTGTGCCTAAGCAAGCCCTAGTC -3'

Sequencing Primer
(F):5'- CTGTTTTAGAGTCCCTACTACAGATG -3'
(R):5'- GCCCTAGTCAGCCAGATATGTAG -3'

Posted On

2013-05-09