Incidental Mutation 'R1844:Jarid2'
ID 207578
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 039869-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1844 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 44882950-45075119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 45056219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 336 (K336T)
Ref Sequence ENSEMBL: ENSMUSP00000134658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044608] [ENSMUST00000173246] [ENSMUST00000173367] [ENSMUST00000173704] [ENSMUST00000173906]
AlphaFold Q62315
Predicted Effect probably benign
Transcript: ENSMUST00000044608
AA Change: K475T

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518
AA Change: K475T

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: ENSMUST00000173246
AA Change: K475T

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518
AA Change: K475T

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: K336T

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134658
Gene: ENSMUSG00000038518
AA Change: K336T

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
AA Change: K475T

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518
AA Change: K475T

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: K437T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000134630
Gene: ENSMUSG00000038518
AA Change: K437T

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.1%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 A G 4: 40,197,566 (GRCm39) K857E probably benign Het
Adam20 A G 8: 41,249,080 (GRCm39) N397D probably benign Het
Adgrf3 T G 5: 30,404,211 (GRCm39) D347A probably damaging Het
Ang6 C T 14: 44,239,330 (GRCm39) E133K possibly damaging Het
Arhgap23 T A 11: 97,354,234 (GRCm39) W205R probably damaging Het
Arhgef40 C A 14: 52,235,080 (GRCm39) R1086S probably damaging Het
Atr G T 9: 95,787,870 (GRCm39) A1488S probably benign Het
Cabin1 A T 10: 75,579,184 (GRCm39) probably null Het
Cby2 C T 14: 75,820,850 (GRCm39) V292I probably benign Het
Cdh22 A C 2: 164,985,614 (GRCm39) F324C probably damaging Het
Cep350 T C 1: 155,724,374 (GRCm39) I3075V probably damaging Het
Chd9 A T 8: 91,683,323 (GRCm39) K588* probably null Het
Clns1a A T 7: 97,346,066 (GRCm39) I44F probably damaging Het
Colgalt1 T C 8: 72,063,995 (GRCm39) I51T possibly damaging Het
Cpt2 C T 4: 107,761,452 (GRCm39) E217K possibly damaging Het
Ctss A G 3: 95,454,105 (GRCm39) probably null Het
Cyp1a1 A G 9: 57,609,980 (GRCm39) T465A probably benign Het
Dbn1 A G 13: 55,629,160 (GRCm39) probably null Het
Dennd1b A G 1: 139,018,143 (GRCm39) probably null Het
Dnajc1 A C 2: 18,298,838 (GRCm39) Y49* probably null Het
Dock10 T A 1: 80,520,918 (GRCm39) I1188L probably damaging Het
Dsg1c T G 18: 20,416,096 (GRCm39) probably null Het
Efcab6 G A 15: 83,851,822 (GRCm39) T352I possibly damaging Het
Eps8l3 T C 3: 107,786,902 (GRCm39) L26P possibly damaging Het
Fbxw26 A G 9: 109,553,946 (GRCm39) V231A probably benign Het
Fetub G A 16: 22,754,419 (GRCm39) E209K possibly damaging Het
Galc A T 12: 98,212,556 (GRCm39) probably null Het
Gm6871 A T 7: 41,222,892 (GRCm39) N65K probably benign Het
Gstp3 A G 19: 4,107,540 (GRCm39) I208T probably benign Het
Gtpbp3 A G 8: 71,945,272 (GRCm39) Y448C probably benign Het
Hdac7 G T 15: 97,705,857 (GRCm39) Q385K probably damaging Het
Hemgn C T 4: 46,396,655 (GRCm39) V194M possibly damaging Het
Idh2 G C 7: 79,748,625 (GRCm39) T113R probably benign Het
Kcnj4 C T 15: 79,369,216 (GRCm39) V255M probably damaging Het
Ldhb C A 6: 142,439,934 (GRCm39) W202L probably damaging Het
Lmbrd2 T A 15: 9,177,838 (GRCm39) Y512* probably null Het
Lrp1 A G 10: 127,431,152 (GRCm39) probably null Het
Map3k12 G A 15: 102,411,970 (GRCm39) P365S probably damaging Het
Map3k5 G A 10: 19,979,909 (GRCm39) D806N probably benign Het
Matn3 A G 12: 9,017,662 (GRCm39) E438G possibly damaging Het
Mcmbp G A 7: 128,325,698 (GRCm39) L97F probably damaging Het
Mmp3 A T 9: 7,453,662 (GRCm39) I428L probably benign Het
Mphosph8 T C 14: 56,934,616 (GRCm39) V855A probably damaging Het
Mycbp2 T A 14: 103,393,150 (GRCm39) H3027L possibly damaging Het
Nbea C T 3: 55,989,857 (GRCm39) R333H probably damaging Het
Notch1 G T 2: 26,350,446 (GRCm39) H2231Q probably benign Het
Npas2 A T 1: 39,364,456 (GRCm39) H266L probably damaging Het
Oas3 A G 5: 120,898,045 (GRCm39) S833P probably damaging Het
Or1j15 T C 2: 36,458,789 (GRCm39) Y60H probably damaging Het
Or5ak24 T C 2: 85,260,265 (GRCm39) T303A probably benign Het
Or5w17 A C 2: 87,584,334 (GRCm39) M1R probably null Het
Or6c65 G A 10: 129,603,725 (GRCm39) R120H probably benign Het
Pak4 C T 7: 28,264,690 (GRCm39) V71I possibly damaging Het
Pitpnm1 T C 19: 4,162,395 (GRCm39) V1075A probably damaging Het
Pkp3 G A 7: 140,668,415 (GRCm39) V555M probably damaging Het
Plekhm2 T C 4: 141,359,685 (GRCm39) T381A probably benign Het
Plppr3 A G 10: 79,702,244 (GRCm39) probably null Het
Ppp2r5e A T 12: 75,516,540 (GRCm39) F216I possibly damaging Het
Ppp3ca T A 3: 136,627,672 (GRCm39) V412D probably benign Het
Prss50 A G 9: 110,687,081 (GRCm39) probably benign Het
Psph A C 5: 129,843,532 (GRCm39) I174R probably damaging Het
Ptov1 A G 7: 44,514,991 (GRCm39) Y207H possibly damaging Het
Ptprs A G 17: 56,741,510 (GRCm39) S585P probably damaging Het
Rnf146 A T 10: 29,223,720 (GRCm39) H55Q probably damaging Het
Rnf213 T A 11: 119,332,009 (GRCm39) M2407K probably damaging Het
Rnls A C 19: 33,179,931 (GRCm39) L55R possibly damaging Het
Rptor T C 11: 119,647,146 (GRCm39) C246R probably damaging Het
Rrp12 C T 19: 41,866,222 (GRCm39) probably null Het
Samd3 A G 10: 26,127,672 (GRCm39) D223G probably damaging Het
Sdad1 G A 5: 92,453,155 (GRCm39) Q68* probably null Het
Selenov G A 7: 27,989,847 (GRCm39) T219M probably damaging Het
Shd A G 17: 56,278,554 (GRCm39) D39G possibly damaging Het
Slc26a10 A T 10: 127,014,279 (GRCm39) V245E probably damaging Het
Slit1 A G 19: 41,614,012 (GRCm39) L820P probably damaging Het
Snap23 T C 2: 120,421,163 (GRCm39) F96L probably benign Het
Speer1k T C 5: 10,998,994 (GRCm39) probably benign Het
Spef1l A T 7: 139,556,005 (GRCm39) I212N probably benign Het
Stkld1 A G 2: 26,840,115 (GRCm39) H395R probably damaging Het
Syt13 G A 2: 92,771,165 (GRCm39) G84D probably damaging Het
Terb2 T A 2: 122,016,990 (GRCm39) L37Q probably damaging Het
Themis A G 10: 28,657,753 (GRCm39) Y107C probably damaging Het
Top2a T A 11: 98,906,895 (GRCm39) T249S probably benign Het
Tspo2 A T 17: 48,756,148 (GRCm39) F71Y probably damaging Het
Ttc21b T A 2: 66,053,921 (GRCm39) K753* probably null Het
Ttk A G 9: 83,736,915 (GRCm39) Y458C possibly damaging Het
Ttn T C 2: 76,586,017 (GRCm39) R21905G probably damaging Het
Ugt3a1 T A 15: 9,351,254 (GRCm39) F88I probably benign Het
Vmn1r119 A G 7: 20,746,121 (GRCm39) L87P probably damaging Het
Vmn1r36 A G 6: 66,693,747 (GRCm39) F6L probably benign Het
Vmn2r15 T A 5: 109,434,860 (GRCm39) K615* probably null Het
Wdr18 G A 10: 79,802,561 (GRCm39) probably null Het
Wdr6 A T 9: 108,453,176 (GRCm39) W236R probably damaging Het
Zbtb48 T C 4: 152,110,955 (GRCm39) T187A 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
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'- TCATGCACTAAGGAGGTGGG -3'
(R):5'- CTGACTCGATGTAGATGAGCGG -3'

Sequencing Primer
(F):5'- GCTGCGGAATTCCAAAAG -3'
(R):5'- TGAGGACAGGGATCTCGTC -3'
Posted On 2014-06-23