Incidental Mutation 'R6296:Jarid2'
ID 508791
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 044407-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6296 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 44882950-45075119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45056539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 443 (Y443N)
Ref Sequence ENSEMBL: ENSMUSP00000134658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044608] [ENSMUST00000173246] [ENSMUST00000173367] [ENSMUST00000173704] [ENSMUST00000173906]
AlphaFold Q62315
Predicted Effect possibly damaging
Transcript: ENSMUST00000044608
AA Change: Y582N

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518
AA Change: Y582N

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: ENSMUST00000173246
AA Change: Y582N

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518
AA Change: Y582N

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: ENSMUST00000173367
AA Change: Y443N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134658
Gene: ENSMUSG00000038518
AA Change: Y443N

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 possibly damaging
Transcript: ENSMUST00000173704
AA Change: Y582N

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518
AA Change: Y582N

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: Y544N

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134630
Gene: ENSMUSG00000038518
AA Change: Y544N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,086,580 (GRCm39) K277R probably damaging Het
Aatf T C 11: 84,363,926 (GRCm39) Y267C probably benign Het
Adcy5 A G 16: 35,124,080 (GRCm39) Y1253C probably damaging Het
Adgra3 G A 5: 50,118,189 (GRCm39) P1120S probably benign Het
Adm A G 7: 110,227,561 (GRCm39) T26A probably benign Het
Ahnak T G 19: 8,980,669 (GRCm39) V651G probably damaging Het
Akr7a5 G A 4: 139,045,532 (GRCm39) V358I probably benign Het
Ankar T G 1: 72,682,417 (GRCm39) T1383P probably damaging Het
Bpifb6 G C 2: 153,748,812 (GRCm39) K269N possibly damaging Het
Cacna1c T C 6: 118,575,684 (GRCm39) E1927G possibly damaging Het
Cacna1c T A 6: 118,629,675 (GRCm39) T1249S probably benign Het
Cacna1h G A 17: 25,602,053 (GRCm39) R1596C probably damaging Het
Cbll1 A G 12: 31,537,507 (GRCm39) V415A probably benign Het
Cd300lf C T 11: 115,015,195 (GRCm39) V132I probably benign Het
Cfap54 T C 10: 92,902,708 (GRCm39) Y148C probably damaging Het
Coa5 A G 1: 37,467,428 (GRCm39) S60P probably damaging Het
Col6a2 T C 10: 76,446,883 (GRCm39) N342D probably damaging Het
Cyp2c29 T G 19: 39,318,705 (GRCm39) I434S possibly damaging Het
Ddx11 G A 17: 66,457,724 (GRCm39) probably null Het
Dgke C T 11: 88,931,575 (GRCm39) V560I probably benign Het
Dusp16 C A 6: 134,697,456 (GRCm39) probably null Het
Enpp4 G T 17: 44,413,371 (GRCm39) N54K probably benign Het
Epn1 G A 7: 5,093,122 (GRCm39) A145T probably damaging Het
Erc2 A T 14: 27,802,112 (GRCm39) K764M probably damaging Het
Ercc6 G T 14: 32,248,360 (GRCm39) E304* probably null Het
Fam117a T A 11: 95,254,971 (GRCm39) C115S possibly damaging Het
Galntl5 T C 5: 25,391,163 (GRCm39) S21P probably benign Het
Gm6358 T C 16: 88,937,970 (GRCm39) S70P unknown Het
Grip1 C T 10: 119,911,369 (GRCm39) Q696* probably null Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hsfy2 T A 1: 56,676,351 (GRCm39) H62L probably benign Het
Ighm T C 12: 113,385,187 (GRCm39) I258V unknown Het
Igkv13-71-1 G T 6: 69,212,783 (GRCm39) noncoding transcript Het
Inava C T 1: 136,148,809 (GRCm39) probably null Het
Irx1 A C 13: 72,107,787 (GRCm39) S298R probably damaging Het
Kcnc1 G A 7: 46,084,740 (GRCm39) A555T probably benign Het
Krtap4-6 T A 11: 99,556,245 (GRCm39) R161* probably null Het
Lipo3 T C 19: 33,757,737 (GRCm39) D244G probably benign Het
Lmo2 T G 2: 103,800,946 (GRCm39) V39G possibly damaging Het
Lrch2 C T X: 146,263,553 (GRCm39) A369T probably damaging Homo
Macf1 A T 4: 123,326,668 (GRCm39) I4943N probably damaging Het
Mkx A T 18: 7,000,591 (GRCm39) probably null Het
Nek1 C T 8: 61,525,343 (GRCm39) Q594* probably null Het
Nipbl T C 15: 8,330,379 (GRCm39) M2349V possibly damaging Het
Nup155 T A 15: 8,182,639 (GRCm39) C1201S probably damaging Het
Or2y8 C A 11: 52,035,423 (GRCm39) R311S probably benign Het
Or4a76 G A 2: 89,460,975 (GRCm39) T89I probably damaging Het
Or5ac25 T C 16: 59,181,769 (GRCm39) K271E probably benign Het
Osbpl1a A G 18: 12,952,560 (GRCm39) probably null Het
Pbx1 T C 1: 168,011,184 (GRCm39) D372G possibly damaging Het
Pikfyve T A 1: 65,302,112 (GRCm39) S1668T probably damaging Het
Pitpnc1 T C 11: 107,117,092 (GRCm39) H193R probably damaging Het
Plag1 G T 4: 3,904,499 (GRCm39) H231N probably damaging Het
Prmt8 A G 6: 127,688,767 (GRCm39) I201T probably damaging Het
Ptpn23 A T 9: 110,222,894 (GRCm39) N54K probably damaging Het
Rab11fip4 T C 11: 79,581,655 (GRCm39) probably null Het
Rassf9 T A 10: 102,381,614 (GRCm39) I332N probably damaging Het
Rgs9 T C 11: 109,159,813 (GRCm39) N173S probably benign Het
Rhbdl1 A G 17: 26,053,943 (GRCm39) L309P probably damaging Het
Rnf214 A G 9: 45,779,119 (GRCm39) S389P probably benign Het
Rxfp1 A C 3: 79,575,155 (GRCm39) L181R probably damaging Het
Sfxn1 C T 13: 54,247,899 (GRCm39) T208I probably benign Het
Sgo2b C T 8: 64,380,827 (GRCm39) M668I probably benign Het
Sh3bp4 C A 1: 89,073,211 (GRCm39) S686R probably damaging Het
Spata31d1d G A 13: 59,876,278 (GRCm39) T419I possibly damaging Het
Spata31d1e T C 13: 59,890,497 (GRCm39) D441G probably benign Het
Spink5 T C 18: 44,147,824 (GRCm39) S857P probably damaging Het
Stard13 A T 5: 150,986,138 (GRCm39) S339R probably damaging Het
Stk35 T A 2: 129,652,808 (GRCm39) Y436* probably null Het
Supt6 C T 11: 78,116,885 (GRCm39) R589Q possibly damaging Het
Tinag T A 9: 76,904,217 (GRCm39) E402V possibly damaging Het
Tmem183a T C 1: 134,289,349 (GRCm39) D27G probably damaging Het
Tnfrsf13c T C 15: 82,108,103 (GRCm39) T56A probably damaging Het
Tnrc18 A C 5: 142,719,331 (GRCm39) L1985R unknown Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Ufl1 G T 4: 25,270,572 (GRCm39) Q215K probably benign Het
Unkl T C 17: 25,450,839 (GRCm39) *232R probably null Het
Wnk4 A T 11: 101,164,824 (GRCm39) N718Y probably damaging Het
Xkr4 T C 1: 3,286,793 (GRCm39) T466A probably benign Het
Zfp451 T A 1: 33,808,898 (GRCm39) K988* probably null Het
Zfp503 G C 14: 22,035,868 (GRCm39) Y349* probably null Het
Zfp990 T A 4: 145,264,673 (GRCm39) F557Y possibly 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
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
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'- ATGCTGGGCAAACAAGCAC -3'
(R):5'- GTGATGCCCTGAGATCTGAG -3'

Sequencing Primer
(F):5'- TGTGAAAATCGTTCTACCTCGCAAC -3'
(R):5'- CCCTGAGATCTGAGGTGCTTC -3'
Posted On 2018-04-02