Incidental Mutation 'R6216:Arid2'
ID 503745
Institutional Source Beutler Lab
Gene Symbol Arid2
Ensembl Gene ENSMUSG00000033237
Gene Name AT-rich interaction domain 2
Synonyms 1700124K17Rik, zipzap/p200, 4432409D24Rik
MMRRC Submission 044349-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6216 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 96185399-96302873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96254790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 212 (D212G)
Ref Sequence ENSEMBL: ENSMUSP00000093969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096250] [ENSMUST00000134985]
AlphaFold E9Q7E2
Predicted Effect probably benign
Transcript: ENSMUST00000096250
AA Change: D212G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: D212G

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 probably benign
Transcript: ENSMUST00000134985
SMART Domains Protein: ENSMUSP00000135829
Gene: ENSMUSG00000033237

DomainStartEndE-ValueType
ARID 10 101 9.67e-36 SMART
BRIGHT 14 106 3.67e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175735
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (67/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,164,910 (GRCm39) D488G probably benign Het
Adgrv1 C A 13: 81,672,590 (GRCm39) probably null Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh3 G A 2: 93,838,881 (GRCm39) probably benign Het
Ankrd22 A T 19: 34,101,569 (GRCm39) probably null Het
Anks1b A G 10: 90,096,618 (GRCm39) D425G probably damaging Het
Bbx A T 16: 50,071,751 (GRCm39) S225T probably benign Het
Bivm T A 1: 44,166,028 (GRCm39) probably null Het
Bpifb3 A G 2: 153,767,773 (GRCm39) Y282C probably benign Het
Cacna1h A T 17: 25,597,793 (GRCm39) I1767N probably damaging Het
Ccdc28a G T 10: 18,100,719 (GRCm39) S36* probably null Het
Ccser2 A G 14: 36,662,465 (GRCm39) S240P probably damaging Het
Ceacam1 A T 7: 25,171,421 (GRCm39) S348T probably benign Het
Ddx49 C T 8: 70,749,934 (GRCm39) G161D probably damaging Het
Dhx16 A G 17: 36,193,864 (GRCm39) E353G possibly damaging Het
Dnaaf6rt A T 1: 31,262,432 (GRCm39) D138V probably damaging Het
Etv2 A G 7: 30,334,036 (GRCm39) probably null Het
Extl1 T C 4: 134,090,441 (GRCm39) T345A probably benign Het
Fam163a A T 1: 155,954,741 (GRCm39) S137T probably benign Het
Fermt2 A T 14: 45,697,338 (GRCm39) M671K possibly damaging Het
Fsd1l T C 4: 53,694,742 (GRCm39) C388R probably damaging Het
Galnt18 A C 7: 111,112,757 (GRCm39) V470G probably benign Het
Grin2b T A 6: 135,749,397 (GRCm39) I602F probably damaging Het
Gucy1b1 G T 3: 81,954,020 (GRCm39) probably null Het
Hace1 T C 10: 45,494,643 (GRCm39) V151A probably benign Het
Hadhb T A 5: 30,379,929 (GRCm39) D258E probably benign Het
Heatr1 C T 13: 12,447,545 (GRCm39) T1746I probably benign Het
Hrnr T C 3: 93,239,469 (GRCm39) S3236P unknown Het
Kcnd1 G C X: 7,690,148 (GRCm39) A23P probably damaging Homo
Kiz C A 2: 146,731,417 (GRCm39) D302E probably damaging Het
Kng2 A T 16: 22,806,343 (GRCm39) W619R probably damaging Het
Mfap3l C A 8: 61,124,841 (GRCm39) T361K probably damaging Het
Mlec T C 5: 115,288,376 (GRCm39) H160R probably benign Het
Myo16 T C 8: 10,365,494 (GRCm39) L89P probably benign Het
Neb T C 2: 52,114,564 (GRCm39) I4232V probably benign Het
Nf1 A G 11: 79,302,433 (GRCm39) I334V possibly damaging Het
Nipbl A C 15: 8,347,867 (GRCm39) F1942V probably damaging Het
Or2ag17 A T 7: 106,389,665 (GRCm39) I181N probably benign Het
Or4a70 C A 2: 89,324,066 (GRCm39) V197F probably damaging Het
Or4c11c T C 2: 88,661,655 (GRCm39) S65P probably damaging Het
Or51a10 A G 7: 103,698,902 (GRCm39) Y220H probably damaging Het
Pabpc2 G T 18: 39,907,772 (GRCm39) A346S probably damaging Het
Paxip1 T C 5: 27,971,171 (GRCm39) T393A unknown Het
Pcdhgb5 A T 18: 37,864,981 (GRCm39) T259S probably benign Het
Pfkp A T 13: 6,669,224 (GRCm39) L253H probably benign Het
Piezo1 T C 8: 123,215,869 (GRCm39) D1428G probably benign Het
Pkd1l2 T G 8: 117,808,209 (GRCm39) D105A probably damaging Het
Pou2f1 G T 1: 165,707,889 (GRCm39) probably benign Het
Ppfia4 T C 1: 134,256,921 (GRCm39) E100G probably damaging Het
Ppp1r15a G T 7: 45,173,446 (GRCm39) T454K probably damaging Het
Prpsap1 A T 11: 116,362,239 (GRCm39) I381N probably damaging Het
Ptx3 T A 3: 66,132,265 (GRCm39) V262E probably damaging Het
Rab21 A T 10: 115,130,831 (GRCm39) H158Q probably benign Het
Rasa2 A G 9: 96,426,357 (GRCm39) S830P probably damaging Het
Rdh1 G A 10: 127,600,622 (GRCm39) S215N probably benign Het
Rhot1 G A 11: 80,141,885 (GRCm39) R463H probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Selenom A T 11: 3,464,915 (GRCm39) probably benign Het
Selenop T C 15: 3,308,947 (GRCm39) C300R probably damaging Het
Skint1 T A 4: 111,878,679 (GRCm39) S204T probably benign Het
Ss18l1 A G 2: 179,703,706 (GRCm39) N313S unknown Het
Sycp2l A G 13: 41,295,200 (GRCm39) D289G probably damaging Het
Terf1 C T 1: 15,889,221 (GRCm39) H188Y probably benign Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Trdn A G 10: 33,181,065 (GRCm39) T357A probably damaging Het
Trip11 A C 12: 101,856,859 (GRCm39) M401R probably benign Het
Ubald2 A C 11: 116,325,211 (GRCm39) D26A probably benign Het
Ube2w C G 1: 16,689,508 (GRCm39) probably benign Het
Vmn2r101 T A 17: 19,811,267 (GRCm39) S450R probably benign 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
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
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'- TCCACGATTAACTTACAACATGTGG -3'
(R):5'- AAGTCGATGGCAAATTCTCAACAC -3'

Sequencing Primer
(F):5'- ACTTACAACATGTGGTTTCGTG -3'
(R):5'- GGCAAATTCTCAACACTTTTTGC -3'
Posted On 2018-02-27