|Institutional Source||Beutler Lab|
|Gene Name||AT rich interactive domain 2 (ARID, RFX-like)|
|Synonyms||4432409D24Rik, 1700124K17Rik, zipzap/p200|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4279 (G1)|
|Chromosomal Location||96287518-96404992 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 96371756 bp|
|Amino Acid Change||Leucine to Glutamine at position 1250 (L1250Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093969 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000096250]|
|Predicted Effect||probably damaging
AA Change: L1250Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L1250Q
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
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||
|Other mutations in Arid2||
(F):5'- TGTGAGTCAGGGAAACGCTG -3'
(R):5'- ATGGCCCATTGCTGATTAGTG -3'
(F):5'- TCAGGGAAACGCTGCTCAG -3'
(R):5'- GCCCATTGCTGATTAGTGAGCAC -3'