Incidental Mutation 'R1464:Jarid2'
ID 200986
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 039518-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1464 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 44882950-45075119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45001857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 57 (V57F)
Ref Sequence ENSEMBL: ENSMUSP00000134630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044608] [ENSMUST00000172977] [ENSMUST00000173003] [ENSMUST00000173246] [ENSMUST00000173704] [ENSMUST00000173367] [ENSMUST00000173906] [ENSMUST00000174068]
AlphaFold Q62315
Predicted Effect possibly damaging
Transcript: ENSMUST00000044608
AA Change: V95F

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518
AA Change: V95F

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 noncoding transcript
Transcript: ENSMUST00000172581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172924
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 possibly damaging
Transcript: ENSMUST00000173246
AA Change: V95F

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518
AA Change: V95F

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 possibly damaging
Transcript: ENSMUST00000173704
AA Change: V95F

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518
AA Change: V95F

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: ENSMUST00000173367
AA Change: M12I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000134658
Gene: ENSMUSG00000038518
AA Change: M12I

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 damaging
Transcript: ENSMUST00000173906
AA Change: V57F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134630
Gene: ENSMUSG00000038518
AA Change: V57F

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: ENSMUST00000174557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174683
Predicted Effect probably benign
Transcript: ENSMUST00000174068
SMART Domains Protein: ENSMUSP00000134593
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
Blast:JmjC 8 65 2e-19 BLAST
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.7%
Validation Efficiency
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030469F06Rik A G 12: 31,234,914 (GRCm39) noncoding transcript Het
Abca2 T G 2: 25,337,846 (GRCm39) probably benign Het
Adamts8 T A 9: 30,862,673 (GRCm39) W86R probably benign Het
Adh1 A G 3: 137,994,508 (GRCm39) probably null Het
Adipor2 A T 6: 119,338,804 (GRCm39) W150R probably damaging Het
Aff4 T A 11: 53,263,351 (GRCm39) S124T probably damaging Het
Ahnak G T 19: 8,982,260 (GRCm39) K1181N probably damaging Het
Ak2 C A 4: 128,896,152 (GRCm39) probably benign Het
Alkbh5 A G 11: 60,429,873 (GRCm39) I209V probably benign Het
Ankrd11 T C 8: 123,619,463 (GRCm39) E1442G probably damaging Het
Apba2 T A 7: 64,345,297 (GRCm39) D162E probably benign Het
Asic3 G A 5: 24,618,819 (GRCm39) G37E probably damaging Het
AU040320 A T 4: 126,685,824 (GRCm39) K133N possibly damaging Het
C1qtnf7 A G 5: 43,766,481 (GRCm39) S34G probably benign Het
Carf A G 1: 60,165,065 (GRCm39) probably benign Het
Ccdc148 T A 2: 58,796,374 (GRCm39) R463* probably null Het
Ccdc148 T C 2: 58,824,455 (GRCm39) R329G probably damaging Het
Ccdc185 A G 1: 182,576,263 (GRCm39) I142T probably benign Het
Cd274 T C 19: 29,359,992 (GRCm39) probably benign Het
Chrna10 G A 7: 101,763,454 (GRCm39) P114S probably damaging Het
Chst10 A G 1: 38,904,772 (GRCm39) I311T probably damaging Het
Cpne9 T C 6: 113,271,698 (GRCm39) Y353H probably damaging Het
Cubn G T 2: 13,330,099 (GRCm39) A2594E possibly damaging Het
Cyp3a13 T C 5: 137,903,827 (GRCm39) N277S possibly damaging Het
Dctn4 A G 18: 60,671,478 (GRCm39) T117A probably damaging Het
Ddah1 A T 3: 145,559,029 (GRCm39) K96* probably null Het
Ddx5 A C 11: 106,675,711 (GRCm39) D326E probably benign Het
Dlg2 T C 7: 91,617,406 (GRCm39) S323P probably damaging Het
Dnaaf1 C T 8: 120,306,049 (GRCm39) H109Y probably damaging Het
Dnah8 C A 17: 30,914,147 (GRCm39) R1098S possibly damaging Het
Dnajc13 T C 9: 104,091,366 (GRCm39) T642A probably benign Het
Dnajc18 A G 18: 35,813,900 (GRCm39) S290P possibly damaging Het
Dscam T A 16: 96,602,453 (GRCm39) H663L possibly damaging Het
Eefsec C T 6: 88,353,182 (GRCm39) probably benign Het
Emc1 A G 4: 139,098,248 (GRCm39) N740S probably damaging Het
Enpp2 C T 15: 54,727,208 (GRCm39) G541D probably damaging Het
Fam234b C T 6: 135,205,490 (GRCm39) T485I probably benign Het
Fbxl13 A T 5: 21,688,989 (GRCm39) I773K probably benign Het
Fmo4 A G 1: 162,621,924 (GRCm39) F429S possibly damaging Het
Fndc3b A G 3: 27,494,334 (GRCm39) probably benign Het
Frem1 T C 4: 82,930,116 (GRCm39) S277G probably damaging Het
Gaa A G 11: 119,163,810 (GRCm39) I221V probably benign Het
Gnptab A G 10: 88,281,616 (GRCm39) probably benign Het
Gphn T A 12: 78,659,738 (GRCm39) probably benign Het
Helz2 T C 2: 180,881,447 (GRCm39) E345G probably damaging Het
Ifna4 G T 4: 88,760,237 (GRCm39) R47I probably damaging Het
Igsf21 C A 4: 139,761,836 (GRCm39) A281S probably benign Het
Ikzf3 T A 11: 98,407,731 (GRCm39) I37L probably benign Het
Inpp5d A T 1: 87,625,827 (GRCm39) probably benign Het
Jag1 T C 2: 136,957,568 (GRCm39) E48G probably damaging Het
Kcnj4 A G 15: 79,369,605 (GRCm39) L125P probably damaging Het
Kif21b A G 1: 136,083,891 (GRCm39) K713E possibly damaging Het
Layn T A 9: 50,968,886 (GRCm39) S286C probably damaging Het
Lepr T A 4: 101,592,878 (GRCm39) D164E probably benign Het
Macroh2a1 A T 13: 56,230,949 (GRCm39) S310T probably damaging Het
Map3k1 T C 13: 111,892,405 (GRCm39) H950R possibly damaging Het
Map4k5 C A 12: 69,852,124 (GRCm39) V801L possibly damaging Het
Mapkbp1 T A 2: 119,851,742 (GRCm39) S895T probably benign Het
Mthfr T A 4: 148,138,029 (GRCm39) probably benign Het
Naca T A 10: 127,884,157 (GRCm39) M2157K probably damaging Het
Nav2 T C 7: 49,011,952 (GRCm39) I61T probably damaging Het
Nkx2-5 C A 17: 27,058,253 (GRCm39) A234S probably benign Het
Nol8 G A 13: 49,830,264 (GRCm39) S1116N probably benign Het
Nphp3 T C 9: 103,909,078 (GRCm39) probably benign Het
Nppa T C 4: 148,085,304 (GRCm39) S5P probably benign Het
Nup210 A G 6: 91,030,551 (GRCm39) V123A possibly damaging Het
Or13a21 G T 7: 139,999,286 (GRCm39) N133K probably benign Het
Osbpl11 A G 16: 33,049,455 (GRCm39) K604R probably damaging Het
Osbpl1a C T 18: 13,047,615 (GRCm39) S113N probably benign Het
P2rx4 C A 5: 122,852,602 (GRCm39) P92Q probably damaging Het
Pde9a A T 17: 31,692,136 (GRCm39) Q148L probably benign Het
Phf21b T A 15: 84,689,160 (GRCm39) H122L probably damaging Het
Pik3ca T A 3: 32,515,990 (GRCm39) F977I probably damaging Het
Pkd1l3 A G 8: 110,363,059 (GRCm39) probably benign Het
Potefam1 A G 2: 111,055,748 (GRCm39) probably null Het
Pp2d1 T G 17: 53,823,015 (GRCm39) K17T possibly damaging Het
Ppp4r2 A G 6: 100,843,527 (GRCm39) E415G probably damaging Het
Pramel19 T A 4: 101,798,503 (GRCm39) L158Q probably damaging Het
Prkg1 A G 19: 30,556,270 (GRCm39) S559P probably damaging Het
Prss45 A T 9: 110,670,019 (GRCm39) Y276F possibly damaging Het
Ptk7 G T 17: 46,883,517 (GRCm39) N849K probably damaging Het
Rnf121 A G 7: 101,680,782 (GRCm39) I125T possibly damaging Het
Rnf17 A G 14: 56,699,368 (GRCm39) N502S probably damaging Het
Sap25 T A 5: 137,640,622 (GRCm39) Y167* probably null Het
Sdk2 G A 11: 113,720,906 (GRCm39) T1341I possibly damaging Het
Sgcb A G 5: 73,792,896 (GRCm39) V302A probably benign Het
Skor1 T A 9: 63,047,393 (GRCm39) M865L possibly damaging Het
Slc25a45 T C 19: 5,929,928 (GRCm39) probably benign Het
Slc2a3 A G 6: 122,714,269 (GRCm39) probably benign Het
Slc35g1 C A 19: 38,391,665 (GRCm39) L316I probably benign Het
Slco1a8 C T 6: 141,938,243 (GRCm39) W225* probably null Het
Spint4 T A 2: 164,540,568 (GRCm39) L33H probably damaging Het
Sptlc3 A T 2: 139,389,154 (GRCm39) D178V probably benign Het
Stoml1 A G 9: 58,167,709 (GRCm39) probably benign Het
Tbc1d2 T A 4: 46,606,491 (GRCm39) Y818F possibly damaging Het
Tbc1d24 A T 17: 24,400,197 (GRCm39) probably null Het
Teddm2 C T 1: 153,726,277 (GRCm39) W146* probably null Het
Ttn T A 2: 76,589,338 (GRCm39) D12948V probably damaging Het
Txndc8 T C 4: 58,000,274 (GRCm39) T102A probably damaging Het
Uxs1 G A 1: 43,804,076 (GRCm39) Q280* probably null Het
Vmn1r167 T C 7: 23,204,681 (GRCm39) T112A possibly damaging Het
Vmn1r195 A T 13: 22,463,348 (GRCm39) I273L probably benign Het
Vmn1r28 T A 6: 58,242,217 (GRCm39) M20K probably benign Het
Vmn1r53 G A 6: 90,200,914 (GRCm39) L137F probably benign Het
Vmn2r105 G A 17: 20,449,004 (GRCm39) probably benign Het
Vps13b C T 15: 35,709,630 (GRCm39) A1859V probably benign Het
Vwa5b2 A G 16: 20,415,019 (GRCm39) H347R probably benign Het
Wnk2 G A 13: 49,235,451 (GRCm39) P655S probably damaging Het
Zan T G 5: 137,418,191 (GRCm39) D2969A unknown Het
Zbtb24 A G 10: 41,331,075 (GRCm39) H334R probably damaging Het
Zfp108 A G 7: 23,959,973 (GRCm39) D188G probably benign Het
Zfp784 A T 7: 5,038,800 (GRCm39) C253S possibly damaging Het
Zfr T G 15: 12,146,458 (GRCm39) C336W 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
R1241:Jarid2 UTSW 13 45,038,368 (GRCm39) splice site probably benign
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
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'- TTCTCTGTATCAAAACCCGATCCAGC -3'
(R):5'- CTGACTCCTGTGGTAGATTCACACTTG -3'

Sequencing Primer
(F):5'- ccccccccctctctctc -3'
(R):5'- GGTAGATTCACACTTGCTCCC -3'
Posted On 2014-05-23