Mutagenetix > Incidental Mutation

Incidental Mutation 'R6776:Arid2'

531318

Institutional Source

Beutler Lab

Gene Symbol

Arid2

Ensembl Gene

ENSMUSG00000033237

Gene Name

AT-rich interaction domain 2

Synonyms

1700124K17Rik, zipzap/p200, 4432409D24Rik

MMRRC Submission

044892-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6776 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96185399-96302873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96268830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 981 (N981S)

Ref Sequence

ENSEMBL: ENSMUSP00000093969 (fasta)

Gene Model

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

AlphaFold

E9Q7E2

Predicted Effect

probably benign
Transcript: ENSMUST00000096250
AA Change: N981S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: N981S

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

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
Abhd13	A	G	8: 10,038,075 (GRCm39)	H224R	probably benign	Het
Anapc10	T	C	8: 80,446,374 (GRCm39)	F68S	probably damaging	Het
Bmerb1	T	A	16: 13,804,670 (GRCm39)	S6T	possibly damaging	Het
Cfap73	A	G	5: 120,772,276 (GRCm39)	F9L	probably damaging	Het
Chd3	A	C	11: 69,245,296 (GRCm39)	L1141V	probably damaging	Het
Daam1	C	T	12: 72,036,582 (GRCm39)	L1052F	possibly damaging	Het
Dmxl1	C	T	18: 50,027,041 (GRCm39)	R2050C	probably damaging	Het
Dpp10	G	A	1: 123,295,385 (GRCm39)	Q552*	probably null	Het
Dysf	A	G	6: 84,041,876 (GRCm39)	D160G	possibly damaging	Het
Ecrg4	C	A	1: 43,781,551 (GRCm39)	N144K	probably damaging	Het
Firrm	T	C	1: 163,804,318 (GRCm39)	I338M	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,926 (GRCm39)		probably benign	Het
Ftcd	T	C	10: 76,425,073 (GRCm39)	I518T	probably benign	Het
Gapdh	A	G	6: 125,139,236 (GRCm39)	S248P	probably damaging	Het
Gm5592	C	G	7: 40,939,153 (GRCm39)	P812A	probably damaging	Het
Grik2	G	A	10: 49,232,085 (GRCm39)	L482F	probably damaging	Het
Gzmg	C	T	14: 56,394,288 (GRCm39)	G202D	probably damaging	Het
Hectd4	G	A	5: 121,491,574 (GRCm39)	A3671T	possibly damaging	Het
Hexa	G	T	9: 59,465,355 (GRCm39)	W203C	probably damaging	Het
Igdcc4	A	T	9: 65,042,700 (GRCm39)	T1217S	probably benign	Het
Ipo7	A	G	7: 109,646,272 (GRCm39)	D557G	probably damaging	Het
Irx3	T	A	8: 92,526,463 (GRCm39)	T414S	probably benign	Het
Jakmip1	G	A	5: 37,344,498 (GRCm39)	E1313K	probably damaging	Het
Kbtbd12	T	C	6: 88,595,248 (GRCm39)	D194G	probably damaging	Het
Klk6	T	C	7: 43,476,298 (GRCm39)	L46P	probably damaging	Het
Krt86	T	C	15: 101,374,817 (GRCm39)	I329T	probably benign	Het
Mroh5	A	G	15: 73,661,817 (GRCm39)		probably null	Het
Mtrf1	T	C	14: 79,650,521 (GRCm39)	V323A	probably damaging	Het
Oas3	A	T	5: 120,896,939 (GRCm39)	I894N	probably damaging	Het
Oplah	C	T	15: 76,185,053 (GRCm39)	V887I	possibly damaging	Het
Pag1	T	C	3: 9,764,848 (GRCm39)	T102A	probably benign	Het
Pcnx1	C	T	12: 82,009,496 (GRCm39)	A1181V	possibly damaging	Het
Pkdrej	G	T	15: 85,701,510 (GRCm39)	Y1475*	probably null	Het
Pla2g5	A	G	4: 138,527,964 (GRCm39)	S101P	probably benign	Het
Plekha4	C	A	7: 45,184,241 (GRCm39)	A76E	probably damaging	Het
Plk2	T	C	13: 110,536,325 (GRCm39)	I592T	probably benign	Het
Ppp2r3c	T	A	12: 55,345,252 (GRCm39)	R79*	probably null	Het
Ppp2r3d	A	T	9: 101,090,061 (GRCm39)	H87Q	probably benign	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Prrt4	G	T	6: 29,176,551 (GRCm39)	T258K	possibly damaging	Het
Rhpn2	T	A	7: 35,083,194 (GRCm39)		probably null	Het
Slc11a1	T	A	1: 74,423,244 (GRCm39)	I365N	probably damaging	Het
Slc7a7	C	T	14: 54,612,108 (GRCm39)	G265D	possibly damaging	Het
Thsd7a	T	A	6: 12,555,636 (GRCm39)	T83S	possibly damaging	Het
Tln2	A	G	9: 67,170,187 (GRCm39)	S1989P	probably damaging	Het
Tnfaip3	T	G	10: 18,881,324 (GRCm39)	T321P	probably benign	Het
Tnrc6b	C	T	15: 80,808,320 (GRCm39)	P1623L	possibly damaging	Het
Trpa1	T	C	1: 14,982,601 (GRCm39)	N85S	probably benign	Het
Trrap	C	T	5: 144,788,066 (GRCm39)	R3544*	probably null	Het
Ttf2	A	T	3: 100,859,869 (GRCm39)	V695E	probably benign	Het
Ttll4	A	G	1: 74,720,512 (GRCm39)	E509G	probably damaging	Het
Vdr	T	C	15: 97,767,709 (GRCm39)	I94V	probably damaging	Het
Wdfy3	G	T	5: 102,031,911 (GRCm39)	Q2304K	possibly damaging	Het
Zfp663	T	C	2: 165,200,935 (GRCm39)	Y33C	probably damaging	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
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
R8036:Arid2	UTSW	15	96,266,625 (GRCm39)	missense	probably damaging	1.00
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'- GTAGTGATTGTGAGCCAGCC -3'
(R):5'- TTGATGAGACTAGACTCGTTGG -3'

Sequencing Primer
(F):5'- ATTGTGAGCCAGCCAGCAC -3'
(R):5'- CTGAACTTGCACCTGGACCTG -3'

Posted On

2018-08-29