Incidental Mutation 'R0254:Arid2'
ID 34600
Institutional Source Beutler Lab
Gene Symbol Arid2
Ensembl Gene ENSMUSG00000033237
Gene Name AT rich interactive domain 2 (ARID, RFX-like)
Synonyms 4432409D24Rik, 1700124K17Rik, zipzap/p200
MMRRC Submission 038485-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0254 (G1)
Quality Score 213
Status Validated
Chromosome 15
Chromosomal Location 96287518-96404992 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 96370571 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 855 (T855I)
Ref Sequence ENSEMBL: ENSMUSP00000093969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096250]
AlphaFold E9Q7E2
Predicted Effect probably damaging
Transcript: ENSMUST00000096250
AA Change: T855I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: T855I

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: ENSMUST00000176739
Meta Mutation Damage Score 0.1598 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 100% (100/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,952,404 (GRCm38) M252L probably benign Het
Abca6 A G 11: 110,236,789 (GRCm38) V314A probably benign Het
Abcb1b A T 5: 8,827,409 (GRCm38) E656D probably benign Het
Abhd4 T C 14: 54,263,234 (GRCm38) I160T probably benign Het
Aco2 T C 15: 81,889,356 (GRCm38) V32A probably damaging Het
Actl6b A G 5: 137,554,144 (GRCm38) probably benign Het
Akap13 T C 7: 75,736,604 (GRCm38) probably benign Het
Alpk3 A T 7: 81,076,974 (GRCm38) T136S probably benign Het
Ap1g1 G T 8: 109,803,117 (GRCm38) M56I probably benign Het
Asprv1 T C 6: 86,629,095 (GRCm38) F308L probably damaging Het
Ass1 A T 2: 31,514,819 (GRCm38) N371Y probably damaging Het
Atp11b T A 3: 35,812,110 (GRCm38) M378K possibly damaging Het
Atp1a3 T C 7: 24,981,512 (GRCm38) probably benign Het
Blk C A 14: 63,380,804 (GRCm38) A218S probably benign Het
C4b T A 17: 34,734,776 (GRCm38) T953S probably benign Het
Cdadc1 T C 14: 59,575,907 (GRCm38) probably benign Het
Cdca2 C A 14: 67,677,178 (GRCm38) L877F probably damaging Het
Ceacam10 G T 7: 24,778,308 (GRCm38) V83L probably damaging Het
Cep290 A T 10: 100,514,574 (GRCm38) I677F probably benign Het
Clip1 A T 5: 123,617,332 (GRCm38) probably benign Het
Col11a2 G T 17: 34,064,803 (GRCm38) probably benign Het
Coro1c A T 5: 113,845,252 (GRCm38) V405D probably benign Het
Crebrf A G 17: 26,739,594 (GRCm38) T13A probably benign Het
Cspg4 A G 9: 56,897,410 (GRCm38) E1835G probably damaging Het
Cubn T C 2: 13,424,694 (GRCm38) N1332S probably benign Het
Cubn T C 2: 13,440,514 (GRCm38) T1014A possibly damaging Het
Cubn A T 2: 13,476,035 (GRCm38) probably null Het
Efnb1 T C X: 99,137,028 (GRCm38) probably benign Het
Elf2 G T 3: 51,308,190 (GRCm38) P33Q probably damaging Het
Fap C T 2: 62,503,402 (GRCm38) G633D probably damaging Het
Gm10288 T C 3: 146,838,920 (GRCm38) noncoding transcript Het
Gm14139 G A 2: 150,191,864 (GRCm38) R35K possibly damaging Het
Gm7714 A T 5: 88,282,371 (GRCm38) H42L possibly damaging Het
Got2 T C 8: 95,869,538 (GRCm38) N318S probably benign Het
Guk1 A T 11: 59,186,028 (GRCm38) F76L probably damaging Het
H2-K1 A T 17: 33,996,665 (GRCm38) probably benign Het
Helz2 C A 2: 181,232,759 (GRCm38) G1981C probably damaging Het
Hinfp G A 9: 44,298,239 (GRCm38) H250Y probably damaging Het
Hnrnpm C T 17: 33,652,268 (GRCm38) probably null Het
Hsd11b2 T A 8: 105,523,067 (GRCm38) V270E possibly damaging Het
Igbp1b A T 6: 138,658,203 (GRCm38) M81K probably damaging Het
Kif11 A G 19: 37,411,509 (GRCm38) T815A probably benign Het
Kit G A 5: 75,620,921 (GRCm38) V337I probably benign Het
Klf11 T C 12: 24,653,583 (GRCm38) S6P probably damaging Het
Klk13 T C 7: 43,723,821 (GRCm38) V193A probably benign Het
Krt73 T A 15: 101,799,889 (GRCm38) probably benign Het
L1td1 T A 4: 98,737,182 (GRCm38) L538* probably null Het
Macf1 A G 4: 123,432,779 (GRCm38) L2061P probably damaging Het
Mcm2 A G 6: 88,884,016 (GRCm38) I900T probably damaging Het
Med16 A T 10: 79,900,200 (GRCm38) N371K possibly damaging Het
Mepce A C 5: 137,785,436 (GRCm38) D209E possibly damaging Het
Mrc2 C G 11: 105,347,866 (GRCm38) P1249R probably benign Het
Mx2 A T 16: 97,556,095 (GRCm38) I463L probably benign Het
Naaa A T 5: 92,265,135 (GRCm38) N73K probably damaging Het
Nags T A 11: 102,147,945 (GRCm38) L404Q probably damaging Het
Neb A G 2: 52,243,390 (GRCm38) Y3379H probably damaging Het
Nhsl1 A G 10: 18,472,985 (GRCm38) E120G probably damaging Het
Olfr1276 A C 2: 111,257,121 (GRCm38) N2T probably benign Het
Olfr561 C A 7: 102,774,869 (GRCm38) S115* probably null Het
Olfr615 T A 7: 103,560,622 (GRCm38) Y48* probably null Het
Olfr643 T C 7: 104,059,521 (GRCm38) H27R probably benign Het
Olfr736 T C 14: 50,393,079 (GRCm38) S108P probably damaging Het
Pcnt A G 10: 76,392,580 (GRCm38) F1584L probably benign Het
Pdgfra G A 5: 75,167,935 (GRCm38) V243I probably damaging Het
Polr2a T C 11: 69,743,671 (GRCm38) I689V possibly damaging Het
Ppfia4 C A 1: 134,324,224 (GRCm38) probably benign Het
Prmt8 C A 6: 127,711,808 (GRCm38) V200L probably damaging Het
Prpf8 T A 11: 75,506,362 (GRCm38) I2007N possibly damaging Het
Ptpn6 T C 6: 124,728,150 (GRCm38) E230G probably damaging Het
R3hcc1l G A 19: 42,563,148 (GRCm38) V195I probably damaging Het
Rb1cc1 C T 1: 6,262,847 (GRCm38) T1330I probably damaging Het
Reep3 G T 10: 67,021,796 (GRCm38) T172N probably benign Het
Rfwd3 A G 8: 111,294,023 (GRCm38) V236A probably benign Het
Rgs22 T C 15: 36,104,552 (GRCm38) I121V probably damaging Het
Robo1 T A 16: 72,664,170 (GRCm38) F11I probably benign Het
Rsrc2 A G 5: 123,740,847 (GRCm38) probably benign Het
Rubcn A G 16: 32,847,946 (GRCm38) V117A probably benign Het
Scamp1 T G 13: 94,210,580 (GRCm38) N192T probably benign Het
Scn8a T A 15: 101,018,364 (GRCm38) I1218N probably damaging Het
Serinc1 A G 10: 57,523,208 (GRCm38) S200P probably damaging Het
Serpinb9f T A 13: 33,334,591 (GRCm38) F358Y probably damaging Het
Slc12a5 T C 2: 164,997,245 (GRCm38) probably null Het
Slc5a4b T C 10: 76,070,628 (GRCm38) M386V possibly damaging Het
Smarca5 A G 8: 80,704,700 (GRCm38) F963L probably benign Het
Smchd1 A T 17: 71,411,891 (GRCm38) F828I probably benign Het
Stab2 G T 10: 86,897,960 (GRCm38) Q1333K probably benign Het
Svop T C 5: 114,038,539 (GRCm38) S349G probably benign Het
Tdrd1 G A 19: 56,842,566 (GRCm38) S271N probably benign Het
Tec G A 5: 72,783,738 (GRCm38) P159S probably benign Het
Tec T C 5: 72,763,556 (GRCm38) probably benign Het
Tfip11 G A 5: 112,335,655 (GRCm38) M645I probably benign Het
Thap12 A T 7: 98,715,281 (GRCm38) T219S probably benign Het
Tmem87a C T 2: 120,375,507 (GRCm38) R329H probably damaging Het
Tpsab1 A G 17: 25,343,745 (GRCm38) Y227H probably damaging Het
Urah G A 7: 140,837,689 (GRCm38) V114I probably benign Het
Wnt5a G A 14: 28,522,854 (GRCm38) E353K probably damaging Het
Zfp101 A T 17: 33,380,978 (GRCm38) H601Q possibly damaging Het
Other mutations in Arid2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Arid2 APN 15 96,372,302 (GRCm38) missense probably benign
IGL00321:Arid2 APN 15 96,289,089 (GRCm38) missense probably damaging 0.97
IGL00434:Arid2 APN 15 96,371,300 (GRCm38) missense probably damaging 0.99
IGL00576:Arid2 APN 15 96,356,758 (GRCm38) missense probably damaging 0.99
IGL00766:Arid2 APN 15 96,370,405 (GRCm38) missense probably benign 0.09
IGL01563:Arid2 APN 15 96,372,397 (GRCm38) missense probably damaging 0.99
IGL01697:Arid2 APN 15 96,361,572 (GRCm38) critical splice acceptor site probably null
IGL01845:Arid2 APN 15 96,356,797 (GRCm38) missense probably damaging 1.00
IGL02159:Arid2 APN 15 96,358,912 (GRCm38) splice site probably benign
IGL02341:Arid2 APN 15 96,372,185 (GRCm38) missense probably benign
IGL02416:Arid2 APN 15 96,350,055 (GRCm38) missense possibly damaging 0.63
IGL02578:Arid2 APN 15 96,372,235 (GRCm38) missense probably benign 0.00
IGL02598:Arid2 APN 15 96,371,536 (GRCm38) missense probably damaging 1.00
IGL02644:Arid2 APN 15 96,368,708 (GRCm38) missense probably damaging 1.00
IGL02653:Arid2 APN 15 96,287,702 (GRCm38) missense probably damaging 0.99
IGL03115:Arid2 APN 15 96,370,273 (GRCm38) missense probably damaging 1.00
IGL03137:Arid2 APN 15 96,371,318 (GRCm38) missense probably benign 0.44
IGL03220:Arid2 APN 15 96,361,772 (GRCm38) missense probably damaging 0.99
IGL03249:Arid2 APN 15 96,401,965 (GRCm38) missense probably damaging 1.00
IGL03256:Arid2 APN 15 96,370,762 (GRCm38) missense probably benign 0.18
IGL03386:Arid2 APN 15 96,361,574 (GRCm38) missense probably damaging 1.00
H8562:Arid2 UTSW 15 96,369,546 (GRCm38) missense possibly damaging 0.77
I2288:Arid2 UTSW 15 96,369,511 (GRCm38) missense possibly damaging 0.95
R0284:Arid2 UTSW 15 96,378,967 (GRCm38) splice site probably benign
R0347:Arid2 UTSW 15 96,370,952 (GRCm38) missense probably benign 0.01
R0366:Arid2 UTSW 15 96,361,720 (GRCm38) splice site probably benign
R0400:Arid2 UTSW 15 96,356,925 (GRCm38) unclassified probably benign
R0650:Arid2 UTSW 15 96,402,049 (GRCm38) missense possibly damaging 0.47
R0651:Arid2 UTSW 15 96,402,049 (GRCm38) missense possibly damaging 0.47
R1034:Arid2 UTSW 15 96,369,505 (GRCm38) missense probably benign 0.01
R1615:Arid2 UTSW 15 96,371,654 (GRCm38) missense possibly damaging 0.59
R1696:Arid2 UTSW 15 96,370,183 (GRCm38) missense probably benign 0.01
R2024:Arid2 UTSW 15 96,361,799 (GRCm38) missense probably damaging 1.00
R2046:Arid2 UTSW 15 96,369,387 (GRCm38) missense probably damaging 1.00
R2069:Arid2 UTSW 15 96,362,590 (GRCm38) missense probably damaging 1.00
R2149:Arid2 UTSW 15 96,370,835 (GRCm38) missense probably damaging 1.00
R2300:Arid2 UTSW 15 96,402,006 (GRCm38) missense probably damaging 1.00
R2336:Arid2 UTSW 15 96,362,549 (GRCm38) missense probably damaging 1.00
R2359:Arid2 UTSW 15 96,361,878 (GRCm38) missense probably damaging 1.00
R2368:Arid2 UTSW 15 96,350,012 (GRCm38) missense possibly damaging 0.83
R2829:Arid2 UTSW 15 96,369,454 (GRCm38) missense possibly damaging 0.95
R3013:Arid2 UTSW 15 96,361,936 (GRCm38) missense probably damaging 1.00
R3109:Arid2 UTSW 15 96,356,746 (GRCm38) missense probably damaging 1.00
R3765:Arid2 UTSW 15 96,370,714 (GRCm38) missense probably benign 0.01
R3785:Arid2 UTSW 15 96,372,558 (GRCm38) missense possibly damaging 0.83
R3811:Arid2 UTSW 15 96,289,086 (GRCm38) missense probably benign 0.01
R3812:Arid2 UTSW 15 96,289,086 (GRCm38) missense probably benign 0.01
R3813:Arid2 UTSW 15 96,369,950 (GRCm38) missense probably benign 0.26
R3843:Arid2 UTSW 15 96,351,840 (GRCm38) missense possibly damaging 0.86
R3978:Arid2 UTSW 15 96,363,622 (GRCm38) missense probably damaging 1.00
R4279:Arid2 UTSW 15 96,371,756 (GRCm38) missense probably damaging 1.00
R4569:Arid2 UTSW 15 96,392,462 (GRCm38) missense probably damaging 1.00
R4597:Arid2 UTSW 15 96,370,856 (GRCm38) missense probably damaging 1.00
R5020:Arid2 UTSW 15 96,371,988 (GRCm38) missense probably damaging 0.96
R5154:Arid2 UTSW 15 96,401,985 (GRCm38) missense probably damaging 1.00
R5303:Arid2 UTSW 15 96,392,468 (GRCm38) missense probably damaging 1.00
R5620:Arid2 UTSW 15 96,372,506 (GRCm38) missense probably benign 0.20
R5766:Arid2 UTSW 15 96,372,205 (GRCm38) missense probably benign 0.01
R6005:Arid2 UTSW 15 96,370,972 (GRCm38) missense probably benign
R6169:Arid2 UTSW 15 96,368,677 (GRCm38) missense probably benign 0.36
R6216:Arid2 UTSW 15 96,356,909 (GRCm38) missense probably benign 0.18
R6392:Arid2 UTSW 15 96,361,602 (GRCm38) missense probably damaging 0.99
R6430:Arid2 UTSW 15 96,363,694 (GRCm38) missense probably benign
R6454:Arid2 UTSW 15 96,372,413 (GRCm38) missense probably benign 0.20
R6672:Arid2 UTSW 15 96,362,345 (GRCm38) missense probably benign 0.30
R6776:Arid2 UTSW 15 96,370,949 (GRCm38) missense probably benign 0.00
R6985:Arid2 UTSW 15 96,370,148 (GRCm38) missense probably benign 0.06
R7132:Arid2 UTSW 15 96,350,013 (GRCm38) missense possibly damaging 0.67
R7133:Arid2 UTSW 15 96,378,875 (GRCm38) missense probably damaging 0.99
R7453:Arid2 UTSW 15 96,370,724 (GRCm38) missense probably benign
R7562:Arid2 UTSW 15 96,401,968 (GRCm38) missense probably damaging 1.00
R7594:Arid2 UTSW 15 96,390,994 (GRCm38) missense probably damaging 1.00
R7692:Arid2 UTSW 15 96,356,697 (GRCm38) nonsense probably null
R7792:Arid2 UTSW 15 96,369,375 (GRCm38) missense probably benign 0.05
R8036:Arid2 UTSW 15 96,368,744 (GRCm38) missense probably damaging 1.00
R8094:Arid2 UTSW 15 96,368,711 (GRCm38) missense possibly damaging 0.86
R8327:Arid2 UTSW 15 96,362,604 (GRCm38) missense probably damaging 1.00
R9065:Arid2 UTSW 15 96,371,491 (GRCm38) missense probably benign 0.44
R9143:Arid2 UTSW 15 96,361,834 (GRCm38) missense probably damaging 0.99
R9320:Arid2 UTSW 15 96,371,186 (GRCm38) missense probably damaging 1.00
R9346:Arid2 UTSW 15 96,287,911 (GRCm38) missense probably benign 0.01
R9519:Arid2 UTSW 15 96,289,067 (GRCm38) missense possibly damaging 0.46
R9651:Arid2 UTSW 15 96,358,941 (GRCm38) missense probably benign 0.44
X0024:Arid2 UTSW 15 96,372,490 (GRCm38) missense probably benign 0.00
X0066:Arid2 UTSW 15 96,356,804 (GRCm38) missense probably damaging 1.00
Z1177:Arid2 UTSW 15 96,390,986 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTATCTCTGTTGGAGGAGCACCTG -3'
(R):5'- ACTTGCTGAGAAGGAAGTGGCTTG -3'

Sequencing Primer
(F):5'- AATTCTGTGGGTCAGAACCATAGTG -3'
(R):5'- CTTGGGCGCAATGTTCTG -3'
Posted On 2013-05-09