Incidental Mutation 'R7133:Arid2'
ID 552860
Institutional Source Beutler Lab
Gene Symbol Arid2
Ensembl Gene ENSMUSG00000033237
Gene Name AT-rich interaction domain 2
Synonyms 1700124K17Rik, zipzap/p200, 4432409D24Rik
MMRRC Submission 045218-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7133 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 96185399-96302873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 96276756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 1606 (P1606H)
Ref Sequence ENSEMBL: ENSMUSP00000093969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096250]
AlphaFold E9Q7E2
Predicted Effect probably damaging
Transcript: ENSMUST00000096250
AA Change: P1606H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093969
Gene: ENSMUSG00000033237
AA Change: P1606H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (91/93)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 78,902,473 (GRCm39) K614N probably benign Het
2610008E11Rik T G 10: 78,902,474 (GRCm39) K614T probably benign Het
Ahsa1 T A 12: 87,317,116 (GRCm39) S120R probably benign Het
Anapc16 G A 10: 59,832,302 (GRCm39) T37I possibly damaging Het
Ash1l TATCTCCTTTTCCAAAAA TA 3: 88,890,764 (GRCm39) probably null Het
Asic1 T A 15: 99,569,968 (GRCm39) N96K probably damaging Het
Asph A T 4: 9,484,575 (GRCm39) D582E probably benign Het
Astn1 A G 1: 158,400,557 (GRCm39) D528G probably damaging Het
Atp9b A G 18: 80,952,871 (GRCm39) V164A Het
Cbx6 C T 15: 79,712,866 (GRCm39) G187D possibly damaging Het
Cct7 A G 6: 85,443,627 (GRCm39) T332A probably benign Het
Clca4a A T 3: 144,667,651 (GRCm39) L440* probably null Het
Crybg2 A T 4: 133,792,754 (GRCm39) I130F probably benign Het
Crybg3 T C 16: 59,357,167 (GRCm39) E798G probably damaging Het
Ctnnd2 A G 15: 30,480,995 (GRCm39) E81G possibly damaging Het
Cwc22 C T 2: 77,759,822 (GRCm39) R75H possibly damaging Het
Cym T G 3: 107,121,530 (GRCm39) D254A probably damaging Het
Dcaf11 T A 14: 55,806,383 (GRCm39) probably null Het
Dctn1 A T 6: 83,157,026 (GRCm39) probably null Het
Dennd5a C T 7: 109,495,449 (GRCm39) probably null Het
Dmpk T A 7: 18,821,232 (GRCm39) C217S probably damaging Het
Dnah1 C A 14: 31,008,033 (GRCm39) V2125L probably benign Het
Exoc4 G A 6: 33,415,408 (GRCm39) A427T probably benign Het
Farp2 G T 1: 93,548,956 (GRCm39) V1021F probably damaging Het
Flg2 T C 3: 93,127,069 (GRCm39) S1994P unknown Het
Fmnl1 T C 11: 103,072,610 (GRCm39) probably null Het
Frem2 T A 3: 53,479,760 (GRCm39) I1978F possibly damaging Het
Gan T A 8: 117,913,969 (GRCm39) C122* probably null Het
Gpr25 T A 1: 136,188,559 (GRCm39) Y18F probably damaging Het
Hoxa7 C T 6: 52,192,720 (GRCm39) E223K probably benign Het
Hypk A G 2: 121,283,961 (GRCm39) probably null Het
Ibsp A T 5: 104,450,172 (GRCm39) K27* probably null Het
Ighv6-5 T A 12: 114,380,395 (GRCm39) T41S probably benign Het
Ighv9-4 T C 12: 114,263,757 (GRCm39) M59V probably benign Het
Il17rb T C 14: 29,718,828 (GRCm39) D418G probably damaging Het
Ints5 T A 19: 8,872,923 (GRCm39) V294E probably damaging Het
Irx6 G A 8: 93,405,041 (GRCm39) C303Y probably damaging Het
Itih3 T A 14: 30,639,655 (GRCm39) I389F probably damaging Het
Lama1 C T 17: 68,089,141 (GRCm39) T1604I Het
Lama3 C A 18: 12,672,843 (GRCm39) Q873K probably benign Het
Lhx1 T G 11: 84,410,746 (GRCm39) S284R probably benign Het
Lrba T A 3: 86,302,238 (GRCm39) probably null Het
Lrg1 C T 17: 56,427,592 (GRCm39) G127R possibly damaging Het
Macir G A 1: 97,573,645 (GRCm39) P140L probably benign Het
Mapre1 T A 2: 153,606,883 (GRCm39) L205H probably benign Het
Meltf A G 16: 31,711,617 (GRCm39) N581S probably damaging Het
Mgat5 A C 1: 127,292,926 (GRCm39) M149L probably benign Het
Myh1 A G 11: 67,093,412 (GRCm39) T168A probably benign Het
Naalad2 C T 9: 18,238,673 (GRCm39) V681I probably benign Het
Or51e2 A G 7: 102,391,524 (GRCm39) S229P probably damaging Het
Or52r1c T A 7: 102,735,205 (GRCm39) L155Q probably damaging Het
Pcnx2 T C 8: 126,528,243 (GRCm39) T1326A probably benign Het
Peg3 A T 7: 6,711,944 (GRCm39) C1093S probably damaging Het
Pidd1 T C 7: 141,019,813 (GRCm39) S650G probably benign Het
Pik3c2b T C 1: 133,017,972 (GRCm39) S945P possibly damaging Het
Plec T C 15: 76,060,227 (GRCm39) T3237A possibly damaging Het
Prpf3 A T 3: 95,741,052 (GRCm39) probably null Het
Prpf4b C A 13: 35,085,477 (GRCm39) H974Q probably benign Het
Ptpn3 T C 4: 57,225,863 (GRCm39) T451A probably benign Het
Ptprs A G 17: 56,724,429 (GRCm39) Y1577H probably damaging Het
Rgr C T 14: 36,770,882 (GRCm39) M1I probably null Het
Rxrg A T 1: 167,458,678 (GRCm39) N257I probably benign Het
Sbno2 T C 10: 79,922,146 (GRCm39) D9G probably damaging Het
Scd1 T C 19: 44,395,034 (GRCm39) K64E probably damaging Het
Serpinb1a T A 13: 33,034,308 (GRCm39) I28F possibly damaging Het
Sfmbt2 A T 2: 10,406,818 (GRCm39) E39V probably damaging Het
Slc29a1 A G 17: 45,900,897 (GRCm39) M89T possibly damaging Het
Slco4a1 T A 2: 180,113,856 (GRCm39) V431E possibly damaging Het
Smg1 C T 7: 117,752,131 (GRCm39) C2698Y unknown Het
Sptlc2 C T 12: 87,397,151 (GRCm39) D212N probably benign Het
St6galnac1 T C 11: 116,657,899 (GRCm39) T334A possibly damaging Het
Stim2 A T 5: 54,156,263 (GRCm39) D13V possibly damaging Het
Syne1 A G 10: 5,181,592 (GRCm39) W4248R probably damaging Het
Tanc1 T C 2: 59,627,953 (GRCm39) Y584H probably benign Het
Thoc6 C A 17: 23,892,634 (GRCm39) probably null Het
Trim30a T A 7: 104,078,533 (GRCm39) N181I possibly damaging Het
Trip11 T A 12: 101,850,329 (GRCm39) Q1245L probably damaging Het
Tshz3 A G 7: 36,469,994 (GRCm39) D661G probably benign Het
Ttll8 C A 15: 88,799,630 (GRCm39) V604L probably damaging Het
Ubtfl1 A G 9: 18,320,931 (GRCm39) D153G probably damaging Het
Ufsp2 C A 8: 46,436,661 (GRCm39) N137K probably benign Het
Ugt2a3 A G 5: 87,473,393 (GRCm39) I508T possibly damaging Het
Uso1 G A 5: 92,306,324 (GRCm39) E94K probably benign Het
Usp54 A G 14: 20,611,310 (GRCm39) S1169P probably benign Het
Vmn1r235 C T 17: 21,482,292 (GRCm39) P206S probably benign Het
Vmn1r69 T C 7: 10,314,995 (GRCm39) probably benign Het
Zfp263 T A 16: 3,567,255 (GRCm39) C523* probably null Het
Zfp799 G T 17: 33,039,210 (GRCm39) T352K probably benign Het
Zfr T A 15: 12,180,724 (GRCm39) V951E probably damaging Het
Zfyve26 T C 12: 79,330,926 (GRCm39) D431G probably benign Het
Zswim9 C A 7: 12,993,664 (GRCm39) A831S probably 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
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
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
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'- GCCAAGATGTCACAGATGTCAAG -3'
(R):5'- TGCCTCTTGTTCCAGGTAAGTG -3'

Sequencing Primer
(F):5'- TGTCACAGATGTCAAGAGATAACAC -3'
(R):5'- GTTCCAGGTAAGTGTAACTCTCAAC -3'
Posted On 2019-05-15