Mutagenetix > Incidental Mutation

Incidental Mutation 'R0652:Arpc1b'

62287

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

038837-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0652 (G1)

Quality Score

113

Status

Not 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: 99.3%
3x: 98.5%
10x: 96.3%
20x: 90.1%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,042,889 (GRCm39)	N387D	probably benign	Het
Adgrg5	T	A	8: 95,660,785 (GRCm39)		probably null	Het
Ahi1	C	A	10: 20,855,360 (GRCm39)	H556Q	probably damaging	Het
Amph	A	G	13: 19,270,791 (GRCm39)		probably null	Het
Apol7a	T	C	15: 77,274,055 (GRCm39)		probably benign	Het
Apoo-ps	A	T	13: 107,550,910 (GRCm39)		noncoding transcript	Het
Astn2	T	C	4: 65,712,795 (GRCm39)	D615G	probably damaging	Het
Atm	A	G	9: 53,397,314 (GRCm39)	V1673A	probably damaging	Het
B3gnt3	A	T	8: 72,146,466 (GRCm39)	V21E	probably benign	Het
Bco1	A	G	8: 117,832,435 (GRCm39)	D77G	probably damaging	Het
Brinp2	A	T	1: 158,074,191 (GRCm39)	H643Q	probably damaging	Het
Bsn	A	G	9: 107,982,941 (GRCm39)	F3604S	unknown	Het
Cacna1c	A	G	6: 118,579,190 (GRCm39)	F1753L	probably damaging	Het
Cd74	T	C	18: 60,944,957 (GRCm39)	S201P	probably damaging	Het
Cep192	T	A	18: 67,940,336 (GRCm39)	L101Q	probably benign	Het
Cfap161	T	C	7: 83,442,484 (GRCm39)	I110V	probably null	Het
Cnksr3	T	C	10: 7,070,463 (GRCm39)	D257G	probably damaging	Het
Col14a1	A	C	15: 55,208,278 (GRCm39)	E121A	unknown	Het
Cpne3	T	C	4: 19,532,486 (GRCm39)	D309G	probably benign	Het
Ctnnd1	A	G	2: 84,433,240 (GRCm39)	I609T	probably benign	Het
Cyp2s1	A	G	7: 25,508,683 (GRCm39)	V253A	probably damaging	Het
Dock7	T	C	4: 98,943,586 (GRCm39)	D552G	possibly damaging	Het
Dpyd	A	G	3: 119,220,924 (GRCm39)	D965G	probably damaging	Het
Efcab2	T	A	1: 178,308,911 (GRCm39)	M138K	probably damaging	Het
Eml3	T	C	19: 8,910,649 (GRCm39)	S204P	probably damaging	Het
Fbxw16	T	A	9: 109,265,236 (GRCm39)	S432C	possibly damaging	Het
Fbxw20	T	G	9: 109,061,400 (GRCm39)	Q116H	probably damaging	Het
Fech	A	G	18: 64,591,240 (GRCm39)	S395P	probably damaging	Het
Fgf7	A	G	2: 125,877,875 (GRCm39)	K81E	probably benign	Het
Fras1	T	A	5: 96,929,199 (GRCm39)	Y3868N	possibly damaging	Het
Ganab	A	T	19: 8,892,766 (GRCm39)		probably null	Het
Gfra1	T	C	19: 58,288,986 (GRCm39)	N153S	possibly damaging	Het
Gja4	T	A	4: 127,205,920 (GRCm39)	Y281F	probably benign	Het
Gm5141	T	C	13: 62,921,946 (GRCm39)	T407A	probably damaging	Het
Gm5422	T	C	10: 31,125,277 (GRCm39)		noncoding transcript	Het
Greb1	T	C	12: 16,746,457 (GRCm39)	Y1271C	probably damaging	Het
Hp1bp3	C	A	4: 137,956,080 (GRCm39)	N50K	possibly damaging	Het
Hspg2	T	C	4: 137,242,033 (GRCm39)	F589S	probably damaging	Het
Ido1	A	G	8: 25,075,260 (GRCm39)	F183S	probably damaging	Het
Iqgap1	T	A	7: 80,386,143 (GRCm39)	K936I	probably damaging	Het
Kdm4a	T	C	4: 118,032,886 (GRCm39)	D60G	probably benign	Het
L3mbtl4	G	A	17: 69,081,286 (GRCm39)	C558Y	probably damaging	Het
Lrrc28	T	C	7: 67,267,833 (GRCm39)	N98S	probably damaging	Het
Lypd11	T	A	7: 24,423,622 (GRCm39)	N14I	possibly damaging	Het
Map1a	A	G	2: 121,133,264 (GRCm39)	D1360G	probably benign	Het
Megf10	C	T	18: 57,410,796 (GRCm39)	P702S	probably benign	Het
Met	A	G	6: 17,491,709 (GRCm39)	E157G	probably benign	Het
Mff	A	G	1: 82,728,285 (GRCm39)	D187G	possibly damaging	Het
Mlph	A	T	1: 90,870,630 (GRCm39)	I514F	possibly damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Myo15b	T	C	11: 115,755,468 (GRCm39)	V976A	probably benign	Het
Myo9a	A	G	9: 59,779,209 (GRCm39)	D1655G	probably benign	Het
Ncoa6	C	T	2: 155,233,131 (GRCm39)	G2059D	probably benign	Het
Ndst4	A	T	3: 125,405,188 (GRCm39)	H481L	possibly damaging	Het
Nipbl	A	G	15: 8,332,964 (GRCm39)	S2220P	probably benign	Het
Nom1	C	A	5: 29,640,309 (GRCm39)	P212T	probably damaging	Het
Nsd1	A	G	13: 55,395,399 (GRCm39)	D1000G	possibly damaging	Het
Nudt9	T	C	5: 104,198,467 (GRCm39)	F44S	possibly damaging	Het
Numb	C	T	12: 83,842,566 (GRCm39)	V537I	probably damaging	Het
Or10j3b	T	A	1: 173,043,524 (GRCm39)	I102N	possibly damaging	Het
Or13a27	A	T	7: 139,925,545 (GRCm39)	M119K	probably damaging	Het
Or51q1c	A	G	7: 103,652,446 (GRCm39)		probably null	Het
Or5b109	A	T	19: 13,211,899 (GRCm39)	Y95F	possibly damaging	Het
Or5h17	A	G	16: 58,820,063 (GRCm39)	N5S	probably damaging	Het
Or6c211	T	A	10: 129,506,248 (GRCm39)	T47S	probably benign	Het
Osgin1	A	T	8: 120,172,211 (GRCm39)	Y335F	probably damaging	Het
Pcdh10	T	A	3: 45,334,199 (GRCm39)	V171E	probably damaging	Het
Pira13	T	A	7: 3,825,762 (GRCm39)	Y369F	probably benign	Het
Plxna4	T	C	6: 32,162,436 (GRCm39)	N1359S	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Prr5l	T	C	2: 101,602,635 (GRCm39)	T2A	possibly damaging	Het
Rbp3	T	A	14: 33,680,605 (GRCm39)	I1069N	possibly damaging	Het
Rnf144b	A	G	13: 47,373,983 (GRCm39)	Y60C	probably damaging	Het
Sbno2	A	T	10: 79,903,128 (GRCm39)	V396E	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
Sgk1	A	G	10: 21,758,556 (GRCm39)	N7D	probably damaging	Het
Sigirr	A	T	7: 140,672,980 (GRCm39)	V69D	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
St6gal2	T	C	17: 55,805,290 (GRCm39)	Y396H	probably benign	Het
Ttn	A	T	2: 76,598,956 (GRCm39)	F19319Y	probably damaging	Het
Ubr4	T	A	4: 139,128,637 (GRCm39)	I599N	probably damaging	Het
Vmn1r213	A	G	13: 23,195,564 (GRCm39)		probably benign	Het
Vmn2r96	T	A	17: 18,817,830 (GRCm39)	M469K	probably benign	Het
Wasf1	T	A	10: 40,807,902 (GRCm39)		probably null	Het
Wdr20rt	T	C	12: 65,272,689 (GRCm39)	S51P	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
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
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

2013-07-30