Incidental Mutation 'R1241:Jarid2'
ID 152018
Institutional Source Beutler Lab
Gene Symbol Jarid2
Ensembl Gene ENSMUSG00000038518
Gene Name jumonji and AT-rich interaction domain containing 2
Synonyms jumonji, Jmj
MMRRC Submission 039308-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1241 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 44882950-45075119 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 45038368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044608] [ENSMUST00000172977] [ENSMUST00000173003] [ENSMUST00000173246] [ENSMUST00000173367] [ENSMUST00000173704] [ENSMUST00000173906]
AlphaFold Q62315
Predicted Effect probably benign
Transcript: ENSMUST00000044608
SMART Domains Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
low complexity region 86 99 N/A INTRINSIC
low complexity region 181 195 N/A INTRINSIC
low complexity region 265 285 N/A INTRINSIC
low complexity region 334 353 N/A INTRINSIC
JmjN 554 595 1.77e-20 SMART
ARID 616 707 4.96e-24 SMART
BRIGHT 620 712 1.7e-29 SMART
low complexity region 791 800 N/A INTRINSIC
JmjC 882 1046 1.04e-50 SMART
Pfam:zf-C5HC2 1137 1191 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172977
SMART Domains Protein: ENSMUSP00000134276
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
Blast:JmjC 8 61 4e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173003
Predicted Effect probably benign
Transcript: ENSMUST00000173246
SMART Domains Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
low complexity region 86 99 N/A INTRINSIC
low complexity region 181 195 N/A INTRINSIC
low complexity region 265 285 N/A INTRINSIC
low complexity region 334 353 N/A INTRINSIC
JmjN 554 595 1.77e-20 SMART
ARID 616 707 4.96e-24 SMART
BRIGHT 620 712 1.7e-29 SMART
low complexity region 791 800 N/A INTRINSIC
JmjC 882 1046 1.04e-50 SMART
Pfam:zf-C5HC2 1137 1191 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173367
SMART Domains Protein: ENSMUSP00000134658
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
low complexity region 42 56 N/A INTRINSIC
low complexity region 126 146 N/A INTRINSIC
low complexity region 195 214 N/A INTRINSIC
JmjN 415 456 1.77e-20 SMART
PDB:2RQ5|A 476 507 3e-14 PDB
Blast:ARID 477 507 2e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173704
SMART Domains Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
low complexity region 86 99 N/A INTRINSIC
low complexity region 181 195 N/A INTRINSIC
low complexity region 265 285 N/A INTRINSIC
low complexity region 334 353 N/A INTRINSIC
JmjN 554 595 1.77e-20 SMART
ARID 616 707 4.96e-24 SMART
BRIGHT 620 712 1.7e-29 SMART
low complexity region 791 800 N/A INTRINSIC
JmjC 882 1046 1.04e-50 SMART
Pfam:zf-C5HC2 1137 1190 1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173906
SMART Domains Protein: ENSMUSP00000134630
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
low complexity region 48 61 N/A INTRINSIC
low complexity region 143 157 N/A INTRINSIC
low complexity region 227 247 N/A INTRINSIC
low complexity region 296 315 N/A INTRINSIC
JmjN 516 557 1.77e-20 SMART
ARID 578 669 4.96e-24 SMART
BRIGHT 582 674 1.7e-29 SMART
low complexity region 753 762 N/A INTRINSIC
JmjC 844 1008 1.04e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174557
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.5%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygous mutants show strain-specific phenotypes, including embryonic death and defective neural tube closure, impaired hematopoiesis and hypoplasia of liver, thymus and spleen. Homozygotes for another mutation die at birth with cardiac defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
9030619P08Rik A C 15: 75,301,846 (GRCm39) noncoding transcript Het
Aldh1l2 T C 10: 83,331,889 (GRCm39) I639V probably benign Het
Ambra1 T C 2: 91,601,241 (GRCm39) probably benign Het
Ap5z1 T C 5: 142,455,869 (GRCm39) Y299H probably damaging Het
Atp6v1b1 A T 6: 83,733,526 (GRCm39) probably benign Het
Atr G A 9: 95,832,689 (GRCm39) V2574I probably benign Het
Atxn1l T A 8: 110,459,612 (GRCm39) T217S probably benign Het
Ccdc85a A G 11: 28,346,150 (GRCm39) S89P probably benign Het
Ccn5 T A 2: 163,670,997 (GRCm39) M168K unknown Het
Cd209e A T 8: 3,899,124 (GRCm39) I196N probably damaging Het
Cdhr4 A G 9: 107,872,495 (GRCm39) S247G probably benign Het
Cntn6 A T 6: 104,809,470 (GRCm39) I502F probably damaging Het
Crisp4 T C 1: 18,193,018 (GRCm39) Y233C probably damaging Het
Ctsb C A 14: 63,376,553 (GRCm39) T261N probably benign Het
Ctsk T C 3: 95,408,185 (GRCm39) F14L probably benign Het
Dchs1 T C 7: 105,407,385 (GRCm39) I2110V probably damaging Het
Dennd5b A G 6: 148,969,988 (GRCm39) M155T probably benign Het
Echdc3 T C 2: 6,217,611 (GRCm39) D54G probably benign Het
Egln3 G A 12: 54,228,479 (GRCm39) T209I probably damaging Het
Fbn1 A C 2: 125,214,447 (GRCm39) probably benign Het
Fkbp15 A T 4: 62,222,846 (GRCm39) S1018T possibly damaging Het
Flnb T C 14: 7,896,503 (GRCm38) I898T probably benign Het
Flt1 T A 5: 147,536,456 (GRCm39) Y795F probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fryl T C 5: 73,267,614 (GRCm39) E417G probably damaging Het
Fryl A G 5: 73,222,268 (GRCm39) probably benign Het
Gcnt3 T C 9: 69,941,615 (GRCm39) I318V probably benign Het
Gm11437 T A 11: 84,055,454 (GRCm39) H54L possibly damaging Het
Huwe1 AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA X: 150,690,044 (GRCm39) probably benign Het
Kif5b A T 18: 6,214,044 (GRCm39) V653E probably benign Het
Kmt2b A G 7: 30,274,365 (GRCm39) V2113A probably damaging Het
Knl1 C T 2: 118,903,054 (GRCm39) T1585I probably benign Het
Mlxipl T A 5: 135,161,572 (GRCm39) M497K probably benign Het
Mre11a T A 9: 14,710,935 (GRCm39) W210R probably damaging Het
Mrps22 A G 9: 98,476,748 (GRCm39) V207A probably benign Het
Myo15a A G 11: 60,390,256 (GRCm39) I2111V possibly damaging Het
Myo1a C T 10: 127,555,148 (GRCm39) P838L probably benign Het
Nbea T A 3: 55,965,461 (GRCm39) H484L probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nlrp2 T A 7: 5,331,430 (GRCm39) D322V probably damaging Het
Nrcam T C 12: 44,636,947 (GRCm39) C1057R probably damaging Het
Ntsr1 T C 2: 180,142,394 (GRCm39) S62P probably damaging Het
Nudt18 A G 14: 70,816,867 (GRCm39) H157R probably benign Het
Or10s1 C A 9: 39,986,192 (GRCm39) N200K probably damaging Het
Or5g25 T A 2: 85,477,904 (GRCm39) T254S probably damaging Het
Sidt2 T C 9: 45,857,002 (GRCm39) T435A probably damaging Het
Snx27 T C 3: 94,427,540 (GRCm39) T312A probably benign Het
Srebf2 T C 15: 82,061,720 (GRCm39) S429P probably damaging Het
Suclg2 A G 6: 95,474,563 (GRCm39) probably benign Het
Tchh A T 3: 93,352,279 (GRCm39) E573V unknown Het
Tdrd1 A G 19: 56,850,192 (GRCm39) T985A probably benign Het
Ttc7b A G 12: 100,369,698 (GRCm39) I357T possibly damaging Het
Ttn T C 2: 76,626,008 (GRCm39) E13271G probably damaging Het
Usp13 A G 3: 32,969,857 (GRCm39) E661G probably damaging Het
Vasp T G 7: 18,992,958 (GRCm39) probably benign Het
Vmn2r109 A T 17: 20,775,503 (GRCm39) Y75N possibly damaging Het
Vmn2r15 T A 5: 109,440,770 (GRCm39) N363Y probably damaging Het
Vmn2r60 T A 7: 41,786,476 (GRCm39) N426K probably benign Het
Znhit2 C A 19: 6,112,288 (GRCm39) N344K probably damaging Het
Other mutations in Jarid2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01572:Jarid2 APN 13 45,038,311 (GRCm39) missense probably damaging 1.00
IGL02217:Jarid2 APN 13 45,066,677 (GRCm39) missense probably damaging 1.00
IGL02378:Jarid2 APN 13 45,067,801 (GRCm39) missense probably damaging 0.98
IGL02604:Jarid2 APN 13 45,027,877 (GRCm39) missense probably damaging 1.00
IGL02865:Jarid2 APN 13 45,064,036 (GRCm39) missense probably damaging 1.00
IGL02926:Jarid2 APN 13 45,056,405 (GRCm39) missense probably benign 0.03
R0057:Jarid2 UTSW 13 45,038,332 (GRCm39) missense probably damaging 0.96
R0426:Jarid2 UTSW 13 44,994,358 (GRCm39) critical splice donor site probably null
R0545:Jarid2 UTSW 13 45,056,307 (GRCm39) missense probably benign 0.10
R0562:Jarid2 UTSW 13 45,055,835 (GRCm39) missense probably damaging 0.99
R1192:Jarid2 UTSW 13 45,060,021 (GRCm39) missense probably damaging 1.00
R1254:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1464:Jarid2 UTSW 13 45,001,857 (GRCm39) missense probably damaging 0.97
R1464:Jarid2 UTSW 13 45,001,857 (GRCm39) missense probably damaging 0.97
R1552:Jarid2 UTSW 13 45,064,675 (GRCm39) missense probably damaging 1.00
R1728:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1729:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1730:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1739:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1783:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1785:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1844:Jarid2 UTSW 13 45,056,219 (GRCm39) missense possibly damaging 0.71
R1896:Jarid2 UTSW 13 45,038,358 (GRCm39) critical splice donor site probably null
R1965:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1966:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1995:Jarid2 UTSW 13 45,027,917 (GRCm39) missense probably damaging 1.00
R2120:Jarid2 UTSW 13 45,059,812 (GRCm39) missense probably benign 0.17
R2142:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R2172:Jarid2 UTSW 13 45,056,015 (GRCm39) missense probably damaging 0.99
R2242:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R2245:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R3110:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R3111:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R3112:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R3115:Jarid2 UTSW 13 45,049,942 (GRCm39) missense probably damaging 1.00
R3620:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R3704:Jarid2 UTSW 13 45,055,831 (GRCm39) missense probably benign
R3802:Jarid2 UTSW 13 45,056,307 (GRCm39) missense probably benign 0.10
R3804:Jarid2 UTSW 13 45,056,307 (GRCm39) missense probably benign 0.10
R4126:Jarid2 UTSW 13 45,055,732 (GRCm39) missense probably damaging 1.00
R4127:Jarid2 UTSW 13 45,055,732 (GRCm39) missense probably damaging 1.00
R4128:Jarid2 UTSW 13 45,055,732 (GRCm39) missense probably damaging 1.00
R4153:Jarid2 UTSW 13 45,063,902 (GRCm39) missense probably damaging 1.00
R4844:Jarid2 UTSW 13 45,067,248 (GRCm39) missense probably damaging 0.96
R5044:Jarid2 UTSW 13 45,060,041 (GRCm39) missense probably damaging 1.00
R5329:Jarid2 UTSW 13 45,059,747 (GRCm39) missense possibly damaging 0.49
R5632:Jarid2 UTSW 13 45,049,766 (GRCm39) missense probably damaging 0.97
R5820:Jarid2 UTSW 13 45,055,777 (GRCm39) missense possibly damaging 0.96
R6267:Jarid2 UTSW 13 45,056,539 (GRCm39) missense possibly damaging 0.93
R6296:Jarid2 UTSW 13 45,056,539 (GRCm39) missense possibly damaging 0.93
R6479:Jarid2 UTSW 13 45,001,765 (GRCm39) missense probably benign 0.22
R6619:Jarid2 UTSW 13 45,027,872 (GRCm39) missense probably damaging 1.00
R6633:Jarid2 UTSW 13 45,038,353 (GRCm39) missense probably damaging 0.97
R6970:Jarid2 UTSW 13 45,056,461 (GRCm39) missense probably damaging 1.00
R7020:Jarid2 UTSW 13 45,038,300 (GRCm39) missense probably damaging 1.00
R7155:Jarid2 UTSW 13 45,055,938 (GRCm39) missense probably damaging 1.00
R7223:Jarid2 UTSW 13 45,049,798 (GRCm39) missense possibly damaging 0.89
R7265:Jarid2 UTSW 13 45,055,748 (GRCm39) missense probably benign 0.29
R8321:Jarid2 UTSW 13 45,001,862 (GRCm39) missense probably damaging 0.96
R8872:Jarid2 UTSW 13 45,055,984 (GRCm39) missense possibly damaging 0.88
R9064:Jarid2 UTSW 13 44,994,326 (GRCm39) missense
R9065:Jarid2 UTSW 13 44,994,326 (GRCm39) missense
R9067:Jarid2 UTSW 13 44,994,326 (GRCm39) missense
R9153:Jarid2 UTSW 13 45,064,678 (GRCm39) missense probably damaging 1.00
R9163:Jarid2 UTSW 13 45,064,727 (GRCm39) missense possibly damaging 0.92
R9468:Jarid2 UTSW 13 45,073,306 (GRCm39) missense probably damaging 1.00
R9541:Jarid2 UTSW 13 45,068,253 (GRCm39) missense possibly damaging 0.93
R9558:Jarid2 UTSW 13 45,068,253 (GRCm39) missense possibly damaging 0.93
R9559:Jarid2 UTSW 13 45,068,253 (GRCm39) missense possibly damaging 0.93
R9762:Jarid2 UTSW 13 45,068,253 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- ATGTTAAACCCATCAGGTTCTCCTGC -3'
(R):5'- AGCTACAGGTTAACGCACTTTTATCCC -3'

Sequencing Primer
(F):5'- GCGCTGCCCAACAGTATG -3'
(R):5'- ggcagaggcagggaaatc -3'
Posted On 2014-01-29