Incidental Mutation 'R9153:Jarid2'
ID 695172
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 068940-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9153 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 44882950-45075119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45064678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 921 (F921S)
Ref Sequence ENSEMBL: ENSMUSP00000037774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044608] [ENSMUST00000173246] [ENSMUST00000173704] [ENSMUST00000173906]
AlphaFold Q62315
Predicted Effect probably damaging
Transcript: ENSMUST00000044608
AA Change: F921S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518
AA Change: F921S

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: F921S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518
AA Change: F921S

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: ENSMUST00000173704
AA Change: F921S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518
AA Change: F921S

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
SMART Domains Protein: ENSMUSP00000134630
Gene: ENSMUSG00000038518
AA Change: F883S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,107,481 (GRCm39) S711R possibly damaging Het
Adnp C A 2: 168,026,580 (GRCm39) Q238H possibly damaging Het
Akap13 A G 7: 75,259,229 (GRCm39) T618A probably benign Het
Ankfn1 G A 11: 89,302,845 (GRCm39) R58W probably damaging Het
Atp8b5 A G 4: 43,308,493 (GRCm39) probably benign Het
Borcs5 G T 6: 134,618,108 (GRCm39) probably benign Het
C1s1 T C 6: 124,517,906 (GRCm39) M25V possibly damaging Het
Canx A T 11: 50,188,162 (GRCm39) D527E probably benign Het
Ccdc154 G A 17: 25,382,152 (GRCm39) D24N probably damaging Het
Ccnt1 G A 15: 98,441,159 (GRCm39) T703I probably benign Het
Cd46 T C 1: 194,774,479 (GRCm39) S19G possibly damaging Het
Cdc25b G A 2: 131,034,564 (GRCm39) E264K possibly damaging Het
Cdhr17 A T 5: 17,040,916 (GRCm39) probably null Het
Cog5 A C 12: 31,710,810 (GRCm39) K63N possibly damaging Het
Col28a1 G A 6: 8,022,765 (GRCm39) T726I probably benign Het
Dhx40 A G 11: 86,690,365 (GRCm39) S219P probably damaging Het
Dnah12 T A 14: 26,536,569 (GRCm39) W2162R probably damaging Het
Eef1a2 A G 2: 180,789,774 (GRCm39) *464R probably null Het
Eif1a T A 18: 46,741,036 (GRCm39) D90E probably damaging Het
Fasn C T 11: 120,706,496 (GRCm39) R996Q possibly damaging Het
Foxred2 A G 15: 77,839,787 (GRCm39) probably null Het
Frat2 A G 19: 41,835,806 (GRCm39) L182P probably damaging Het
Fxyd2 G T 9: 45,319,609 (GRCm39) V24F probably damaging Het
Gabrd C T 4: 155,470,496 (GRCm39) V319I probably damaging Het
H13 T G 2: 152,533,788 (GRCm39) V267G possibly damaging Het
Hnf4g T C 3: 3,573,378 (GRCm39) probably benign Het
Iglon5 T A 7: 43,125,421 (GRCm39) T272S possibly damaging Het
Iqgap2 T A 13: 95,844,547 (GRCm39) M454L probably benign Het
Irf8 T C 8: 121,480,400 (GRCm39) C304R probably benign Het
Itga2 A G 13: 115,001,941 (GRCm39) F614L probably benign Het
Itgb4 A C 11: 115,874,879 (GRCm39) H412P probably benign Het
Kctd13 A G 7: 126,541,327 (GRCm39) D189G probably damaging Het
Meis2 G T 2: 115,697,756 (GRCm39) P381T probably benign Het
Mertk G T 2: 128,624,487 (GRCm39) A633S probably damaging Het
Morn5 A G 2: 35,942,993 (GRCm39) Y31C probably damaging Het
Mug2 A T 6: 122,017,627 (GRCm39) T455S possibly damaging Het
Myo3a A G 2: 22,404,744 (GRCm39) N700S probably benign Het
Nisch T C 14: 30,896,782 (GRCm39) T807A unknown Het
Nkx1-1 A T 5: 33,588,703 (GRCm39) V195E unknown Het
Numa1 A G 7: 101,649,118 (GRCm39) T950A probably benign Het
Nup160 A G 2: 90,514,429 (GRCm39) T126A possibly damaging Het
Oca2 C T 7: 55,943,586 (GRCm39) T253I probably benign Het
Odad2 T C 18: 7,286,733 (GRCm39) K166R possibly damaging Het
Or6c209 T A 10: 129,483,306 (GRCm39) I103N possibly damaging Het
P4ha1 A G 10: 59,203,112 (GRCm39) K435R probably damaging Het
Pcdhgb4 T A 18: 37,854,131 (GRCm39) N175K possibly damaging Het
Per3 A G 4: 151,111,796 (GRCm39) L396P probably benign Het
Phactr3 A T 2: 177,925,739 (GRCm39) E338V possibly damaging Het
Plec G T 15: 76,064,725 (GRCm39) R1782S unknown Het
Prpf39 A T 12: 65,106,671 (GRCm39) Q593L probably damaging Het
Ptprq T C 10: 107,416,126 (GRCm39) Y1724C probably damaging Het
Pygo1 T A 9: 72,852,143 (GRCm39) V110D possibly damaging Het
Rasgrf1 T A 9: 89,826,790 (GRCm39) L133Q probably damaging Het
Rgs10 G A 7: 127,975,733 (GRCm39) R145C probably damaging Het
Secisbp2 A G 13: 51,833,855 (GRCm39) Y665C possibly damaging Het
Sel1l3 T A 5: 53,293,188 (GRCm39) T843S probably benign Het
Senp7 G A 16: 56,006,486 (GRCm39) V964I probably benign Het
Setd4 T A 16: 93,384,722 (GRCm39) D322V possibly damaging Het
Sftpc T A 14: 70,759,650 (GRCm39) T90S probably benign Het
Shq1 A T 6: 100,588,738 (GRCm39) D382E probably damaging Het
Sim1 A G 10: 50,772,029 (GRCm39) R13G probably damaging Het
Slc12a1 T G 2: 125,002,989 (GRCm39) probably benign Het
Slc27a6 T C 18: 58,731,805 (GRCm39) F385S probably benign Het
Stk38l A G 6: 146,660,048 (GRCm39) T27A probably benign Het
Tasp1 A G 2: 139,899,327 (GRCm39) S9P probably damaging Het
Tcstv1a T A 13: 120,355,290 (GRCm39) D114V probably damaging Het
Tmigd1 A T 11: 76,795,468 (GRCm39) R25S probably benign Het
Tnrc6a T A 7: 122,773,519 (GRCm39) Y1154N probably damaging Het
Tox2 T C 2: 163,045,091 (GRCm39) V3A Het
Ubr1 A T 2: 120,756,469 (GRCm39) D719E probably benign Het
Ubr3 A G 2: 69,795,822 (GRCm39) K923R Het
Vmn2r12 C T 5: 109,234,203 (GRCm39) V670M probably damaging Het
Zfp983 T C 17: 21,876,522 (GRCm39) S9P probably benign Het
Zfp986 A T 4: 145,626,030 (GRCm39) H230L probably damaging Het
Zscan4f G A 7: 11,135,241 (GRCm39) E216K 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
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
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
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'- TGTTCACTGTGGACAGAGGC -3'
(R):5'- TACAGAGTCAGGCCCTATTTATCAC -3'

Sequencing Primer
(F):5'- TCACTGTGGACAGAGGCTCTTAAG -3'
(R):5'- ACTGCCCTCCTCAGCATCAG -3'
Posted On 2022-01-20