Incidental Mutation 'R8321:Jarid2'
ID 641977
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 067723-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8321 (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 45001862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 96 (S96R)
Ref Sequence ENSEMBL: ENSMUSP00000037774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044608] [ENSMUST00000172977] [ENSMUST00000173003] [ENSMUST00000173246] [ENSMUST00000173367] [ENSMUST00000173704] [ENSMUST00000173906] [ENSMUST00000174068]
AlphaFold Q62315
Predicted Effect probably damaging
Transcript: ENSMUST00000044608
AA Change: S96R

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518
AA Change: S96R

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: ENSMUST00000172977
SMART Domains Protein: ENSMUSP00000134276
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
Blast:JmjC 8 61 4e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173003
Predicted Effect probably damaging
Transcript: ENSMUST00000173246
AA Change: S96R

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518
AA Change: S96R

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: V14D

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134658
Gene: ENSMUSG00000038518
AA Change: V14D

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: S96R

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518
AA Change: S96R

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: S58R

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 probably benign
Transcript: ENSMUST00000174068
SMART Domains Protein: ENSMUSP00000134593
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
Blast:JmjC 8 65 2e-19 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap44 A G 11: 64,899,053 (GRCm39) V708A probably benign Het
Atg9a G A 1: 75,162,342 (GRCm39) Q523* probably null Het
Bank1 T A 3: 135,940,395 (GRCm39) E329V possibly damaging Het
Ccdc162 C A 10: 41,510,029 (GRCm39) A859S probably damaging Het
Cdh11 T C 8: 103,361,416 (GRCm39) R641G probably damaging Het
Cfap58 A G 19: 47,946,586 (GRCm39) E373G probably damaging Het
Chd8 T C 14: 52,470,024 (GRCm39) T529A probably benign Het
Chtf18 G A 17: 25,939,865 (GRCm39) T747I probably benign Het
Cyp2j6 A G 4: 96,441,684 (GRCm39) L2P probably benign Het
Cyp4f18 G A 8: 72,742,427 (GRCm39) P518S possibly damaging Het
Dmrtc1a G A X: 101,952,221 (GRCm39) R8W probably benign Het
Dpyd T C 3: 118,575,573 (GRCm39) V137A possibly damaging Het
Epha6 A G 16: 59,736,317 (GRCm39) V739A probably damaging Het
Ern2 C T 7: 121,772,431 (GRCm39) A676T probably damaging Het
Fam20c A T 5: 138,743,686 (GRCm39) I241F possibly damaging Het
Fastkd2 A G 1: 63,787,138 (GRCm39) H524R probably benign Het
Foxq1 T C 13: 31,743,251 (GRCm39) Y118H probably damaging Het
Gfm1 C T 3: 67,337,594 (GRCm39) A8V probably benign Het
Gfm2 C T 13: 97,299,500 (GRCm39) T407M possibly damaging Het
Gldc G A 19: 30,120,807 (GRCm39) Q375* probably null Het
Gm5114 A G 7: 39,060,273 (GRCm39) I192T possibly damaging Het
Gnb1 A T 4: 155,639,482 (GRCm39) N237I possibly damaging Het
Herc2 C T 7: 55,879,096 (GRCm39) P4662S possibly damaging Het
Herc3 C T 6: 58,820,754 (GRCm39) S46F possibly damaging Het
Hgsnat C T 8: 26,461,179 (GRCm39) G153E possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igkv2-137 GA GAA 6: 67,533,154 (GRCm39) probably null Het
Invs T A 4: 48,283,267 (GRCm39) D6E probably benign Het
Jakmip3 T C 7: 138,628,613 (GRCm39) V463A probably benign Het
Krtap6-1 A C 16: 88,828,624 (GRCm39) N7H unknown Het
Matn4 A T 2: 164,235,207 (GRCm39) V455D probably damaging Het
Nbea G A 3: 56,090,518 (GRCm39) P47S possibly damaging Het
Oit3 T C 10: 59,263,982 (GRCm39) H384R probably benign Het
Or1e27-ps1 G A 11: 73,556,362 (GRCm39) R309H unknown Het
Or8b42 A T 9: 38,341,850 (GRCm39) I91F probably damaging Het
Pabpc4l T A 3: 46,400,729 (GRCm39) D305V probably damaging Het
Papln G A 12: 83,821,715 (GRCm39) W314* probably null Het
Pask G A 1: 93,248,377 (GRCm39) R975C possibly damaging Het
Pate13 G T 9: 35,820,749 (GRCm39) C111F probably damaging Het
Plce1 A G 19: 38,640,380 (GRCm39) N542S probably benign Het
Rasal1 C T 5: 120,804,420 (GRCm39) R431C probably benign Het
Rnf17 TG T 14: 56,661,999 (GRCm39) 132 probably null Het
Sez6l2 C A 7: 126,557,588 (GRCm39) T334N probably damaging Het
Sh3d19 A G 3: 86,001,071 (GRCm39) T256A probably damaging Het
Slit2 A T 5: 48,387,609 (GRCm39) N545Y probably damaging Het
Sprtn A T 8: 125,629,994 (GRCm39) D429V possibly damaging Het
Srcap T C 7: 127,140,068 (GRCm39) V1389A probably damaging Het
Tecta C A 9: 42,284,349 (GRCm39) C912F probably damaging Het
Tns1 T A 1: 74,024,939 (GRCm39) probably null Het
Tprg1l A G 4: 154,244,860 (GRCm39) V76A probably benign Het
Trav12-2 G T 14: 53,853,840 (GRCm39) probably benign Het
Trio T C 15: 27,881,412 (GRCm39) D612G possibly damaging Het
Usp6nl A T 2: 6,395,900 (GRCm39) Q36H possibly damaging Het
Vps9d1 A T 8: 123,975,544 (GRCm39) M167K possibly damaging Het
Zfhx4 T A 3: 5,466,187 (GRCm39) L2140Q probably damaging Het
Zfp512b A G 2: 181,228,931 (GRCm39) V678A possibly damaging Het
Zfp800 A G 6: 28,242,992 (GRCm39) S658P probably damaging Het
Zscan22 A G 7: 12,637,625 (GRCm39) S6G 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
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'- ATGTAAGTTTTCTGTCCTTGTCAGC -3'
(R):5'- CGGGCCATTAATGACTTTTATCC -3'

Sequencing Primer
(F):5'- TCCTTGTCAGCTTGGGCACAG -3'
(R):5'- CCATCTTTGTTTTTGAGGATTGTTAC -3'
Posted On 2020-07-28