Incidental Mutation 'R5820:Jarid2'
ID 449888
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 043400-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5820 (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 A at 45055777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 328 (V328I)
Ref Sequence ENSEMBL: ENSMUSP00000134675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044608] [ENSMUST00000173246] [ENSMUST00000173367] [ENSMUST00000173704] [ENSMUST00000173906]
AlphaFold Q62315
Predicted Effect possibly damaging
Transcript: ENSMUST00000044608
AA Change: V328I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518
AA Change: V328I

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: V328I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518
AA Change: V328I

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: ENSMUST00000173367
AA Change: V189I

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134658
Gene: ENSMUSG00000038518
AA Change: V189I

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: V328I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518
AA Change: V328I

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 possibly damaging
Transcript: ENSMUST00000173906
AA Change: V290I

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134630
Gene: ENSMUSG00000038518
AA Change: V290I

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,841,607 (GRCm39) Y596H probably benign Het
Adgrg3 A T 8: 95,766,221 (GRCm39) M351L possibly damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgef38 A T 3: 132,866,560 (GRCm39) D192E probably benign Het
Arhgef40 T C 14: 52,224,953 (GRCm39) F33L possibly damaging Het
Arid1b A G 17: 5,046,529 (GRCm39) Y439C possibly damaging Het
Bltp1 T C 3: 37,093,675 (GRCm39) V875A probably benign Het
Bop1 G A 15: 76,339,041 (GRCm39) P386S probably damaging Het
Cacna1s A G 1: 136,007,342 (GRCm39) H453R probably damaging Het
Canx A G 11: 50,199,210 (GRCm39) V153A probably damaging Het
Chfr T A 5: 110,310,605 (GRCm39) D475E possibly damaging Het
Clcn7 A C 17: 25,368,026 (GRCm39) K208T probably damaging Het
Cmya5 G T 13: 93,229,288 (GRCm39) N1933K probably benign Het
CN725425 A G 15: 91,144,900 (GRCm39) T588A possibly damaging Het
Cwh43 G A 5: 73,585,975 (GRCm39) W358* probably null Het
Cyfip2 A T 11: 46,091,531 (GRCm39) W1130R probably damaging Het
Ddx60 A T 8: 62,409,155 (GRCm39) D397V possibly damaging Het
Disp1 T C 1: 182,917,151 (GRCm39) S92G probably benign Het
Dusp6 A G 10: 99,099,864 (GRCm39) D104G possibly damaging Het
Dzank1 C T 2: 144,355,408 (GRCm39) V96M probably damaging Het
Ecscr C A 18: 35,850,320 (GRCm39) V52F possibly damaging Het
Epha7 A T 4: 28,949,365 (GRCm39) N712I probably damaging Het
Eva1a C T 6: 82,048,154 (GRCm39) P11S probably benign Het
Fam187b T C 7: 30,676,577 (GRCm39) C29R probably damaging Het
Fau T C 19: 6,109,452 (GRCm39) V117A probably benign Het
Fbxw11 A G 11: 32,685,374 (GRCm39) D369G probably damaging Het
Fkbp15 A G 4: 62,263,783 (GRCm39) F95L probably benign Het
Fkbp6 A T 5: 135,368,774 (GRCm39) probably null Het
Fmo9 T C 1: 166,492,170 (GRCm39) K367E possibly damaging Het
Gad2 T C 2: 22,580,261 (GRCm39) V554A probably benign Het
Gm18025 T C 12: 34,340,631 (GRCm39) D154G probably benign Het
Gm4353 A G 7: 115,683,693 (GRCm39) F34S possibly damaging Het
Gucy2e A G 11: 69,123,522 (GRCm39) I459T probably benign Het
Hpx A G 7: 105,240,995 (GRCm39) I426T possibly damaging Het
Hspa9 T C 18: 35,076,227 (GRCm39) T362A possibly damaging Het
Insr G A 8: 3,205,976 (GRCm39) P1271L probably damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kif18b A G 11: 102,803,874 (GRCm39) S429P probably benign Het
Lats1 A T 10: 7,581,672 (GRCm39) H819L probably damaging Het
Lmnb1 T A 18: 56,873,858 (GRCm39) D421E possibly damaging Het
Lrp4 T C 2: 91,322,960 (GRCm39) I1148T probably damaging Het
Map1b T A 13: 99,569,332 (GRCm39) M1130L unknown Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Myh6 T C 14: 55,196,137 (GRCm39) Y554C probably damaging Het
Myl4 T C 11: 104,474,806 (GRCm39) F52L probably damaging Het
Nol12 C T 15: 78,824,680 (GRCm39) T169I probably benign Het
Nrde2 C T 12: 100,098,546 (GRCm39) R707H probably benign Het
Oasl1 G A 5: 115,075,037 (GRCm39) V366M possibly damaging Het
Or8b47 T C 9: 38,435,895 (GRCm39) I289T possibly damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Polrmt C T 10: 79,574,157 (GRCm39) probably null Het
Ppil4 A G 10: 7,686,174 (GRCm39) D344G probably null Het
Ppp2r3d C T 9: 124,422,765 (GRCm38) A69T possibly damaging Het
Prmt3 C T 7: 49,498,554 (GRCm39) P487S probably damaging Het
Ptprm A T 17: 66,996,460 (GRCm39) L1209H probably damaging Het
Rnf115 G A 3: 96,635,164 (GRCm39) probably benign Het
Sec63 A G 10: 42,672,241 (GRCm39) D185G possibly damaging Het
Sema4b T C 7: 79,874,706 (GRCm39) S699P probably damaging Het
Serpinb3d T G 1: 107,006,089 (GRCm39) E333A probably damaging Het
Sh3rf2 T C 18: 42,274,112 (GRCm39) L426P possibly damaging Het
Slco6d1 A G 1: 98,427,503 (GRCm39) I611M probably damaging Het
Stk31 T A 6: 49,394,219 (GRCm39) Y194N probably damaging Het
Tlr9 G A 9: 106,099,906 (GRCm39) probably null Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Vmn1r188 G A 13: 22,272,256 (GRCm39) G70D possibly damaging Het
Zfp318 A G 17: 46,723,699 (GRCm39) M1901V probably benign Het
Zfp407 A T 18: 84,578,649 (GRCm39) D821E 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
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'- CTCTTCTGAGCCAGCAACTG -3'
(R):5'- TTTGGGTTCAACCTGCTGC -3'

Sequencing Primer
(F):5'- TCTTCTGAGCCAGCAACTGTAGAAG -3'
(R):5'- CAAGGGATAGCACCTGTTTGC -3'
Posted On 2016-12-20