Incidental Mutation 'R0562:Jarid2'
ID 45970
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 038753-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0562 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 44882950-45075119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45055835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 208 (V208A)
Ref Sequence ENSEMBL: ENSMUSP00000134658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044608] [ENSMUST00000173246] [ENSMUST00000173367] [ENSMUST00000173704] [ENSMUST00000173906]
AlphaFold Q62315
Predicted Effect probably damaging
Transcript: ENSMUST00000044608
AA Change: V347A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518
AA Change: V347A

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 damaging
Transcript: ENSMUST00000173246
AA Change: V347A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518
AA Change: V347A

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 damaging
Transcript: ENSMUST00000173367
AA Change: V208A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134658
Gene: ENSMUSG00000038518
AA Change: V208A

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: ENSMUST00000173704
AA Change: V347A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518
AA Change: V347A

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
AA Change: V309A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134630
Gene: ENSMUSG00000038518
AA Change: V309A

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
Meta Mutation Damage Score 0.1034 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb C T 7: 131,027,518 (GRCm39) Q63* probably null Het
Adam26b A T 8: 43,973,408 (GRCm39) N531K probably benign Het
Agt A G 8: 125,286,014 (GRCm39) I356T probably benign Het
Ankmy1 A T 1: 92,827,413 (GRCm39) probably benign Het
Anxa3 C T 5: 96,960,743 (GRCm39) S49L possibly damaging Het
Arap3 C A 18: 38,108,593 (GRCm39) R1279L probably damaging Het
Azin1 A G 15: 38,493,825 (GRCm39) I266T probably benign Het
Btnl7-ps T C 17: 34,752,498 (GRCm39) noncoding transcript Het
Car5a T A 8: 122,671,469 (GRCm39) T22S probably benign Het
Card6 A G 15: 5,134,648 (GRCm39) I185T probably damaging Het
Ccdc81 T C 7: 89,552,437 (GRCm39) D11G probably benign Het
Cep170b T C 12: 112,705,623 (GRCm39) V1127A probably benign Het
Ces1h T C 8: 94,083,771 (GRCm39) I390M unknown Het
Col9a1 T A 1: 24,218,360 (GRCm39) probably null Het
Cwc27 C A 13: 104,797,865 (GRCm39) E365* probably null Het
Cyb561a3 T C 19: 10,564,074 (GRCm39) V138A probably benign Het
Dcaf1 T C 9: 106,721,321 (GRCm39) probably benign Het
Dnah17 A G 11: 117,963,726 (GRCm39) Y2516H probably damaging Het
Dsc2 T A 18: 20,174,594 (GRCm39) N521Y probably damaging Het
Dst G A 1: 34,267,062 (GRCm39) E4835K probably damaging Het
Duox2 T C 2: 122,120,080 (GRCm39) E810G probably damaging Het
Dusp15 T C 2: 152,793,268 (GRCm39) N3S possibly damaging Het
Eif1ad9 A G 12: 88,296,436 (GRCm39) D138G unknown Het
Epha4 T C 1: 77,365,124 (GRCm39) K625R probably benign Het
Fcgbpl1 G A 7: 27,862,115 (GRCm39) V2394I probably benign Het
Gata5 C T 2: 179,969,552 (GRCm39) probably null Het
Grm5 A G 7: 87,252,227 (GRCm39) N159S probably damaging Het
Hivep3 T A 4: 119,953,751 (GRCm39) M689K probably benign Het
Ift56 T A 6: 38,378,064 (GRCm39) V292E probably damaging Het
Ilvbl G T 10: 78,419,321 (GRCm39) G499C probably damaging Het
Inpp4b T C 8: 82,494,780 (GRCm39) I65T possibly damaging Het
Kcnh4 T C 11: 100,641,070 (GRCm39) M460V possibly damaging Het
Klhl22 A G 16: 17,610,488 (GRCm39) N580D probably benign Het
Klk15 T A 7: 43,588,269 (GRCm39) C192* probably null Het
Klk1b9 A G 7: 43,445,090 (GRCm39) E194G probably damaging Het
Lama1 G T 17: 68,122,954 (GRCm39) G2779V probably damaging Het
Lmln C T 16: 32,937,455 (GRCm39) R607* probably null Het
Maea T C 5: 33,529,645 (GRCm39) V377A probably benign Het
Matk A T 10: 81,095,525 (GRCm39) Y115F probably benign Het
Mettl18 A G 1: 163,824,062 (GRCm39) K128E probably benign Het
Mrps22 T C 9: 98,474,746 (GRCm39) H246R probably benign Het
Msln A T 17: 25,971,980 (GRCm39) M79K probably benign Het
Myf6 G A 10: 107,330,420 (GRCm39) P49L probably benign Het
Nat1 C T 8: 67,943,963 (GRCm39) T113I possibly damaging Het
Ncor2 C T 5: 125,162,093 (GRCm39) V394M unknown Het
Oas1c T C 5: 120,943,669 (GRCm39) probably benign Het
Or8k21 T A 2: 86,144,869 (GRCm39) T254S probably benign Het
Otp A T 13: 95,013,917 (GRCm39) T112S probably damaging Het
Pcdh7 A G 5: 57,877,405 (GRCm39) N320S probably damaging Het
Pdzd2 G T 15: 12,592,364 (GRCm39) F93L probably damaging Het
Phf20l1 A G 15: 66,481,453 (GRCm39) E283G probably damaging Het
Polr1e T C 4: 45,029,421 (GRCm39) F342S probably damaging Het
Pp2d1 T A 17: 53,846,196 (GRCm39) probably benign Het
Ptpn13 T A 5: 103,664,291 (GRCm39) probably null Het
Reg3g A T 6: 78,444,471 (GRCm39) H107Q possibly damaging Het
Rgl1 T C 1: 152,415,696 (GRCm39) K408E probably damaging Het
Samd4 T C 14: 47,314,966 (GRCm39) C309R probably damaging Het
Sestd1 C A 2: 77,061,066 (GRCm39) W104L probably benign Het
Sfmbt1 T A 14: 30,533,330 (GRCm39) probably null Het
Slc22a21 T A 11: 53,870,446 (GRCm39) K80* probably null Het
Snx20 T A 8: 89,356,630 (GRCm39) Q62L probably benign Het
Spef1l T C 7: 139,557,026 (GRCm39) M120V probably benign Het
Stk40 C A 4: 126,032,594 (GRCm39) probably benign Het
Taf2 A T 15: 54,885,584 (GRCm39) probably benign Het
Tcf23 C T 5: 31,127,654 (GRCm39) P152L probably damaging Het
Tex29 T C 8: 11,894,138 (GRCm39) probably benign Het
Tjp3 A G 10: 81,116,389 (GRCm39) V235A probably damaging Het
Tns3 A T 11: 8,443,262 (GRCm39) I367N possibly damaging Het
Ttn T A 2: 76,543,255 (GRCm39) M33244L probably benign Het
Ush2a A T 1: 188,089,044 (GRCm39) N333I probably damaging Het
Usp34 T C 11: 23,382,406 (GRCm39) probably benign Het
Vmn1r204 A C 13: 22,740,848 (GRCm39) S160R probably benign Het
Vmn2r75 C T 7: 85,797,449 (GRCm39) W788* probably null Het
Vwa5b1 T C 4: 138,363,022 (GRCm39) probably benign Het
Zbtb7a A G 10: 80,984,163 (GRCm39) E535G probably benign Het
Zfp1004 T A 2: 150,034,494 (GRCm39) C303S probably damaging Het
Zranb3 T C 1: 127,964,295 (GRCm39) D144G probably benign 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
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
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'- CTGAGCCAGCAACTGTAGAAGTCC -3'
(R):5'- TGCCCAGCATATTCTTGCCAGC -3'

Sequencing Primer
(F):5'- AGCAACTGTAGAAGTCCTTTCTCAC -3'
(R):5'- AGCAGAGACTTTTCTCCTGAAGC -3'
Posted On 2013-06-11