Mutagenetix > Incidental Mutation

Incidental Mutation 'R8036:Arid2'

618262

Institutional Source

Beutler Lab

Gene Symbol

Arid2

Ensembl Gene

ENSMUSG00000033237

Gene Name

AT-rich interaction domain 2

Synonyms

1700124K17Rik, zipzap/p200, 4432409D24Rik

MMRRC Submission

067473-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8036 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96185399-96302873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96266625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 558 (R558C)

Ref Sequence

ENSEMBL: ENSMUSP00000093969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096250]

AlphaFold

E9Q7E2

Predicted Effect

probably damaging
Transcript: ENSMUST00000096250
AA Change: R558C

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

SMART Domains

Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: R558C

Domain	Start	End	E-Value	Type
ARID	10	101	9.67e-36	SMART
BRIGHT	14	106	3.67e-34	SMART
Pfam:RFX_DNA_binding	521	603	1.7e-26	PFAM
internal_repeat_1	767	843	3.29e-6	PROSPERO
low complexity region	902	942	N/A	INTRINSIC
low complexity region	965	986	N/A	INTRINSIC
low complexity region	1012	1054	N/A	INTRINSIC
low complexity region	1118	1131	N/A	INTRINSIC
internal_repeat_1	1132	1215	3.29e-6	PROSPERO
low complexity region	1453	1468	N/A	INTRINSIC
low complexity region	1590	1614	N/A	INTRINSIC
ZnF_C2H2	1626	1651	4.34e0	SMART
ZnF_C2H2	1659	1684	4.74e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas. A pseudogene of this gene is found on chromosome1. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E12.5 and E14.5, congenital heart defects, impaired coronary artery development, subcutaneous edema and hemorrhage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,236,818 (GRCm39)	V1473A	possibly damaging	Het
Akap9	T	A	5: 4,120,397 (GRCm39)	C3604*	probably null	Het
Alas1	A	G	9: 106,112,721 (GRCm39)	I545T	probably benign	Het
Anpep	A	C	7: 79,491,646 (GRCm39)	D118E	probably benign	Het
Arhgef17	A	T	7: 100,579,062 (GRCm39)	S629T	probably damaging	Het
Camk2n1	A	G	4: 138,184,056 (GRCm39)	D65G	probably damaging	Het
Ccdc177	T	C	12: 80,804,897 (GRCm39)	N459S	unknown	Het
Cenpe	ACTCTCT	ACTCT	3: 134,945,609 (GRCm39)		probably null	Het
Crb1	T	C	1: 139,165,122 (GRCm39)	I1062V	probably benign	Het
Decr2	A	G	17: 26,301,962 (GRCm39)	L256P	probably damaging	Het
Dhx37	T	C	5: 125,501,739 (GRCm39)	M507V	probably benign	Het
Disp1	A	G	1: 182,870,803 (GRCm39)	I539T	probably damaging	Het
Dqx1	T	A	6: 83,036,788 (GRCm39)	V264E	probably damaging	Het
Enpp4	A	G	17: 44,413,136 (GRCm39)	S133P	possibly damaging	Het
Fam149a	T	C	8: 45,802,048 (GRCm39)	T476A	probably benign	Het
Fam20b	A	G	1: 156,533,407 (GRCm39)	W70R	probably damaging	Het
Fbxl13	T	A	5: 21,728,566 (GRCm39)	N508Y	probably damaging	Het
Fjx1	A	G	2: 102,280,720 (GRCm39)	L405P	probably damaging	Het
Fn1	G	A	1: 71,629,310 (GRCm39)	Q2399*	probably null	Het
Foxa2	G	C	2: 147,885,909 (GRCm39)	T308S	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm10521	A	G	1: 171,723,752 (GRCm39)	D21G	unknown	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Herpud1	A	G	8: 95,119,014 (GRCm39)	E256G	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Kctd13	A	G	7: 126,528,414 (GRCm39)	D63G	possibly damaging	Het
Lamp3	C	A	16: 19,519,809 (GRCm39)	D125Y	probably damaging	Het
Luzp2	A	G	7: 54,724,823 (GRCm39)	D128G	probably damaging	Het
Lyve1	A	G	7: 110,458,649 (GRCm39)	C105R	probably damaging	Het
Mlkl	A	T	8: 112,060,086 (GRCm39)	V100E	probably damaging	Het
Muc5b	T	C	7: 141,421,478 (GRCm39)	S4323P	possibly damaging	Het
Myoz3	T	G	18: 60,713,922 (GRCm39)		probably null	Het
Nlrp9c	T	A	7: 26,070,864 (GRCm39)	N906Y	possibly damaging	Het
Odad1	A	G	7: 45,592,276 (GRCm39)	D352G	probably benign	Het
Or10x4	A	G	1: 174,219,382 (GRCm39)	H249R	probably damaging	Het
Or51f23	A	T	7: 102,452,763 (GRCm39)	H26L	possibly damaging	Het
Or8b49	T	C	9: 38,506,186 (GRCm39)	F223S	probably benign	Het
Or8w1	C	T	2: 87,465,847 (GRCm39)	M81I	probably benign	Het
Pcsk9	G	A	4: 106,311,536 (GRCm39)	H232Y	possibly damaging	Het
Plec	A	G	15: 76,063,380 (GRCm39)	I2230T	possibly damaging	Het
Pou2f3	T	A	9: 43,058,205 (GRCm39)	T47S	probably damaging	Het
Rab8a	A	T	8: 72,928,439 (GRCm39)	I106F	probably damaging	Het
Relch	A	T	1: 105,605,902 (GRCm39)	I181F	probably damaging	Het
Ros1	A	T	10: 52,041,439 (GRCm39)	S295T	probably benign	Het
Sh3yl1	T	A	12: 30,992,098 (GRCm39)	N222K	possibly damaging	Het
Slc6a9	C	T	4: 117,725,083 (GRCm39)	A559V	possibly damaging	Het
Spata20	T	G	11: 94,369,963 (GRCm39)	I778L	probably benign	Het
Taar1	A	T	10: 23,797,033 (GRCm39)	T244S	probably benign	Het
Tmem229b	C	A	12: 79,011,862 (GRCm39)	C23F	probably damaging	Het
Ttll4	A	G	1: 74,718,389 (GRCm39)	Y80C	probably benign	Het
Ube2m	G	A	7: 12,769,566 (GRCm39)	T176I	probably benign	Het
Zfp790	G	A	7: 29,528,346 (GRCm39)	A344T	possibly damaging	Het
Zfp90	G	A	8: 107,145,760 (GRCm39)	V31M	probably benign	Het
Zswim4	C	T	8: 84,949,918 (GRCm39)	R659Q	probably benign	Het

Other mutations in Arid2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Arid2	APN	15	96,270,183 (GRCm39)	missense	probably benign
IGL00321:Arid2	APN	15	96,186,970 (GRCm39)	missense	probably damaging	0.97
IGL00434:Arid2	APN	15	96,269,181 (GRCm39)	missense	probably damaging	0.99
IGL00576:Arid2	APN	15	96,254,639 (GRCm39)	missense	probably damaging	0.99
IGL00766:Arid2	APN	15	96,268,286 (GRCm39)	missense	probably benign	0.09
IGL01563:Arid2	APN	15	96,270,278 (GRCm39)	missense	probably damaging	0.99
IGL01697:Arid2	APN	15	96,259,453 (GRCm39)	critical splice acceptor site	probably null
IGL01845:Arid2	APN	15	96,254,678 (GRCm39)	missense	probably damaging	1.00
IGL02159:Arid2	APN	15	96,256,793 (GRCm39)	splice site	probably benign
IGL02341:Arid2	APN	15	96,270,066 (GRCm39)	missense	probably benign
IGL02416:Arid2	APN	15	96,247,936 (GRCm39)	missense	possibly damaging	0.63
IGL02578:Arid2	APN	15	96,270,116 (GRCm39)	missense	probably benign	0.00
IGL02598:Arid2	APN	15	96,269,417 (GRCm39)	missense	probably damaging	1.00
IGL02644:Arid2	APN	15	96,266,589 (GRCm39)	missense	probably damaging	1.00
IGL02653:Arid2	APN	15	96,185,583 (GRCm39)	missense	probably damaging	0.99
IGL03115:Arid2	APN	15	96,268,154 (GRCm39)	missense	probably damaging	1.00
IGL03137:Arid2	APN	15	96,269,199 (GRCm39)	missense	probably benign	0.44
IGL03220:Arid2	APN	15	96,259,653 (GRCm39)	missense	probably damaging	0.99
IGL03249:Arid2	APN	15	96,299,846 (GRCm39)	missense	probably damaging	1.00
IGL03256:Arid2	APN	15	96,268,643 (GRCm39)	missense	probably benign	0.18
IGL03386:Arid2	APN	15	96,259,455 (GRCm39)	missense	probably damaging	1.00
H8562:Arid2	UTSW	15	96,267,427 (GRCm39)	missense	possibly damaging	0.77
I2288:Arid2	UTSW	15	96,267,392 (GRCm39)	missense	possibly damaging	0.95
R0254:Arid2	UTSW	15	96,268,452 (GRCm39)	missense	probably damaging	0.97
R0284:Arid2	UTSW	15	96,276,848 (GRCm39)	splice site	probably benign
R0347:Arid2	UTSW	15	96,268,833 (GRCm39)	missense	probably benign	0.01
R0366:Arid2	UTSW	15	96,259,601 (GRCm39)	splice site	probably benign
R0400:Arid2	UTSW	15	96,254,806 (GRCm39)	unclassified	probably benign
R0650:Arid2	UTSW	15	96,299,930 (GRCm39)	missense	possibly damaging	0.47
R0651:Arid2	UTSW	15	96,299,930 (GRCm39)	missense	possibly damaging	0.47
R1034:Arid2	UTSW	15	96,267,386 (GRCm39)	missense	probably benign	0.01
R1615:Arid2	UTSW	15	96,269,535 (GRCm39)	missense	possibly damaging	0.59
R1696:Arid2	UTSW	15	96,268,064 (GRCm39)	missense	probably benign	0.01
R2024:Arid2	UTSW	15	96,259,680 (GRCm39)	missense	probably damaging	1.00
R2046:Arid2	UTSW	15	96,267,268 (GRCm39)	missense	probably damaging	1.00
R2069:Arid2	UTSW	15	96,260,471 (GRCm39)	missense	probably damaging	1.00
R2149:Arid2	UTSW	15	96,268,716 (GRCm39)	missense	probably damaging	1.00
R2300:Arid2	UTSW	15	96,299,887 (GRCm39)	missense	probably damaging	1.00
R2336:Arid2	UTSW	15	96,260,430 (GRCm39)	missense	probably damaging	1.00
R2359:Arid2	UTSW	15	96,259,759 (GRCm39)	missense	probably damaging	1.00
R2368:Arid2	UTSW	15	96,247,893 (GRCm39)	missense	possibly damaging	0.83
R2829:Arid2	UTSW	15	96,267,335 (GRCm39)	missense	possibly damaging	0.95
R3013:Arid2	UTSW	15	96,259,817 (GRCm39)	missense	probably damaging	1.00
R3109:Arid2	UTSW	15	96,254,627 (GRCm39)	missense	probably damaging	1.00
R3765:Arid2	UTSW	15	96,268,595 (GRCm39)	missense	probably benign	0.01
R3785:Arid2	UTSW	15	96,270,439 (GRCm39)	missense	possibly damaging	0.83
R3811:Arid2	UTSW	15	96,186,967 (GRCm39)	missense	probably benign	0.01
R3812:Arid2	UTSW	15	96,186,967 (GRCm39)	missense	probably benign	0.01
R3813:Arid2	UTSW	15	96,267,831 (GRCm39)	missense	probably benign	0.26
R3843:Arid2	UTSW	15	96,249,721 (GRCm39)	missense	possibly damaging	0.86
R3978:Arid2	UTSW	15	96,261,503 (GRCm39)	missense	probably damaging	1.00
R4279:Arid2	UTSW	15	96,269,637 (GRCm39)	missense	probably damaging	1.00
R4569:Arid2	UTSW	15	96,290,343 (GRCm39)	missense	probably damaging	1.00
R4597:Arid2	UTSW	15	96,268,737 (GRCm39)	missense	probably damaging	1.00
R5020:Arid2	UTSW	15	96,269,869 (GRCm39)	missense	probably damaging	0.96
R5154:Arid2	UTSW	15	96,299,866 (GRCm39)	missense	probably damaging	1.00
R5303:Arid2	UTSW	15	96,290,349 (GRCm39)	missense	probably damaging	1.00
R5620:Arid2	UTSW	15	96,270,387 (GRCm39)	missense	probably benign	0.20
R5766:Arid2	UTSW	15	96,270,086 (GRCm39)	missense	probably benign	0.01
R6005:Arid2	UTSW	15	96,268,853 (GRCm39)	missense	probably benign
R6169:Arid2	UTSW	15	96,266,558 (GRCm39)	missense	probably benign	0.36
R6216:Arid2	UTSW	15	96,254,790 (GRCm39)	missense	probably benign	0.18
R6392:Arid2	UTSW	15	96,259,483 (GRCm39)	missense	probably damaging	0.99
R6430:Arid2	UTSW	15	96,261,575 (GRCm39)	missense	probably benign
R6454:Arid2	UTSW	15	96,270,294 (GRCm39)	missense	probably benign	0.20
R6672:Arid2	UTSW	15	96,260,226 (GRCm39)	missense	probably benign	0.30
R6776:Arid2	UTSW	15	96,268,830 (GRCm39)	missense	probably benign	0.00
R6985:Arid2	UTSW	15	96,268,029 (GRCm39)	missense	probably benign	0.06
R7132:Arid2	UTSW	15	96,247,894 (GRCm39)	missense	possibly damaging	0.67
R7133:Arid2	UTSW	15	96,276,756 (GRCm39)	missense	probably damaging	0.99
R7453:Arid2	UTSW	15	96,268,605 (GRCm39)	missense	probably benign
R7562:Arid2	UTSW	15	96,299,849 (GRCm39)	missense	probably damaging	1.00
R7594:Arid2	UTSW	15	96,288,875 (GRCm39)	missense	probably damaging	1.00
R7692:Arid2	UTSW	15	96,254,578 (GRCm39)	nonsense	probably null
R7792:Arid2	UTSW	15	96,267,256 (GRCm39)	missense	probably benign	0.05
R8094:Arid2	UTSW	15	96,266,592 (GRCm39)	missense	possibly damaging	0.86
R8327:Arid2	UTSW	15	96,260,485 (GRCm39)	missense	probably damaging	1.00
R9065:Arid2	UTSW	15	96,269,372 (GRCm39)	missense	probably benign	0.44
R9143:Arid2	UTSW	15	96,259,715 (GRCm39)	missense	probably damaging	0.99
R9320:Arid2	UTSW	15	96,269,067 (GRCm39)	missense	probably damaging	1.00
R9346:Arid2	UTSW	15	96,185,792 (GRCm39)	missense	probably benign	0.01
R9519:Arid2	UTSW	15	96,186,948 (GRCm39)	missense	possibly damaging	0.46
R9651:Arid2	UTSW	15	96,256,822 (GRCm39)	missense	probably benign	0.44
X0024:Arid2	UTSW	15	96,270,371 (GRCm39)	missense	probably benign	0.00
X0066:Arid2	UTSW	15	96,254,685 (GRCm39)	missense	probably damaging	1.00
Z1177:Arid2	UTSW	15	96,288,867 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GACATACGAGGTGCTGAGACTTG -3'
(R):5'- AAGCCTCCACTGCACTAATG -3'

Sequencing Primer
(F):5'- CATACGAGGTGCTGAGACTTGATTAG -3'
(R):5'- CACCAGTCTTGGGTTTTG -3'

Posted On

2020-01-23