Incidental Mutation 'R3978:Arid2'
ID 311156
Institutional Source Beutler Lab
Gene Symbol Arid2
Ensembl Gene ENSMUSG00000033237
Gene Name AT-rich interaction domain 2
Synonyms 1700124K17Rik, zipzap/p200, 4432409D24Rik
MMRRC Submission 040941-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3978 (G1)
Quality Score 223
Status Validated
Chromosome 15
Chromosomal Location 96185399-96302873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96261503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 453 (D453G)
Ref Sequence ENSEMBL: ENSMUSP00000093969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096250]
AlphaFold E9Q7E2
Predicted Effect probably damaging
Transcript: ENSMUST00000096250
AA Change: D453G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: D453G

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175735
Meta Mutation Damage Score 0.5446 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,889,435 (GRCm39) T61A probably benign Het
Adam28 A G 14: 68,848,443 (GRCm39) V671A probably benign Het
Ankhd1 A T 18: 36,780,666 (GRCm39) H1906L probably damaging Het
Ano5 G A 7: 51,237,554 (GRCm39) V743I probably benign Het
Arfgef1 A G 1: 10,279,859 (GRCm39) V236A probably benign Het
Atp2b1 C A 10: 98,832,795 (GRCm39) probably null Het
Azin1 A T 15: 38,498,957 (GRCm39) N135K probably damaging Het
B020004C17Rik G T 14: 57,254,645 (GRCm39) M156I possibly damaging Het
Cfap54 T C 10: 92,798,274 (GRCm39) T1662A probably benign Het
Cog8 T A 8: 107,779,669 (GRCm39) I203F probably damaging Het
Col6a6 T C 9: 105,576,078 (GRCm39) H2094R probably damaging Het
Cybb T C X: 9,310,827 (GRCm39) Y425C probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Dpyd AAAT AAATGTATATAAAT 3: 118,690,737 (GRCm39) probably benign Het
Dpyd AAT AATGTATATATAT 3: 118,690,738 (GRCm39) probably benign Het
Eif3i T C 4: 129,486,129 (GRCm39) E276G probably damaging Het
Fam171a1 A C 2: 3,226,072 (GRCm39) M402L probably benign Het
Fga A T 3: 82,937,490 (GRCm39) probably null Het
Foxp2 A G 6: 15,197,207 (GRCm39) probably benign Het
Gbp2 C T 3: 142,335,747 (GRCm39) T149I possibly damaging Het
Gm9631 A G 11: 121,834,394 (GRCm39) Y281H possibly damaging Het
Gpr21 C T 2: 37,407,862 (GRCm39) T136I probably benign Het
Gprc5b C T 7: 118,583,354 (GRCm39) V172M probably damaging Het
Gprc6a C A 10: 51,497,197 (GRCm39) V449L probably benign Het
Hdlbp T C 1: 93,349,073 (GRCm39) I535V probably damaging Het
Helb A G 10: 119,925,530 (GRCm39) V949A probably benign Het
Hoxc13 T C 15: 102,829,675 (GRCm39) V18A possibly damaging Het
Hr A G 14: 70,801,024 (GRCm39) T699A probably benign Het
Il27ra G A 8: 84,767,313 (GRCm39) T170I probably benign Het
Insm2 T C 12: 55,647,623 (GRCm39) Y456H probably benign Het
Katna1 T C 10: 7,628,518 (GRCm39) M249T probably damaging Het
Lin9 T A 1: 180,496,357 (GRCm39) I298N possibly damaging Het
Lyst G A 13: 13,808,753 (GRCm39) R141Q possibly damaging Het
Nos3 T A 5: 24,582,929 (GRCm39) D685E probably damaging Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Or5p61 A G 7: 107,758,819 (GRCm39) M87T possibly damaging Het
Pdgfrb A T 18: 61,206,757 (GRCm39) H661L probably damaging Het
Ppfia2 A G 10: 106,666,490 (GRCm39) T399A possibly damaging Het
Ppp1ca T C 19: 4,242,253 (GRCm39) I13T probably benign Het
Psmd1 T C 1: 86,055,909 (GRCm39) M757T probably benign Het
Rdh19 A T 10: 127,685,944 (GRCm39) R19W possibly damaging Het
Rfx7 A G 9: 72,522,393 (GRCm39) T296A possibly damaging Het
Rgl2 G A 17: 34,154,136 (GRCm39) R472H probably benign Het
Rhcg T C 7: 79,267,147 (GRCm39) E43G probably benign Het
Rif1 T A 2: 52,006,759 (GRCm39) probably null Het
Rorb A G 19: 18,915,254 (GRCm39) V468A probably benign Het
Rxrb C T 17: 34,255,300 (GRCm39) P209L possibly damaging Het
Sbf2 G T 7: 109,929,092 (GRCm39) T1438K probably benign Het
Setd3 A T 12: 108,124,201 (GRCm39) C163S possibly damaging Het
Slc15a1 C T 14: 121,727,239 (GRCm39) D110N probably benign Het
Slc26a3 T A 12: 31,515,859 (GRCm39) probably null Het
Slc5a5 A G 8: 71,342,039 (GRCm39) V305A probably benign Het
Slc6a6 A T 6: 91,732,033 (GRCm39) M621L probably benign Het
Smgc A T 15: 91,744,546 (GRCm39) D301V probably damaging Het
Spata31d1c A G 13: 65,182,974 (GRCm39) D172G possibly damaging Het
Syt15 T A 14: 33,945,061 (GRCm39) C203S probably benign Het
Tdrd1 A G 19: 56,855,066 (GRCm39) R1171G probably benign Het
Trp63 A G 16: 25,639,490 (GRCm39) probably benign Het
Tspan9 A G 6: 127,944,210 (GRCm39) V30A probably damaging Het
Ubp1 A T 9: 113,785,773 (GRCm39) probably null Het
Vmn2r68 T A 7: 84,881,670 (GRCm39) Y470F probably benign Het
Wbp1l T A 19: 46,642,396 (GRCm39) probably null Het
Wee1 G T 7: 109,723,762 (GRCm39) D226Y probably damaging Het
Yap1 C T 9: 8,004,285 (GRCm39) G36D probably damaging Het
Zmym6 T C 4: 127,017,348 (GRCm39) I951T possibly damaging Het
Other mutations in Arid2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CTGAAGCGTTTTGTTCAAAAGC -3'
(R):5'- CTGTCTTACACGCCCATAAGC -3'

Sequencing Primer
(F):5'- GGGTCACTTTTCATATCAACAATCC -3'
(R):5'- TGTCTTACACGCCCATAAGCATATAG -3'
Posted On 2015-04-29