Incidental Mutation 'R5044:Jarid2'
ID 394272
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 042634-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5044 (G1)
Quality Score 116
Status Validated
Chromosome 13
Chromosomal Location 44882950-45075119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45060041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 720 (L720F)
Ref Sequence ENSEMBL: ENSMUSP00000134630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044608] [ENSMUST00000173246] [ENSMUST00000173367] [ENSMUST00000173704] [ENSMUST00000173906]
AlphaFold Q62315
Predicted Effect probably damaging
Transcript: ENSMUST00000044608
AA Change: L758F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518
AA Change: L758F

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: L758F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518
AA Change: L758F

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
SMART Domains Protein: ENSMUSP00000134658
Gene: ENSMUSG00000038518

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: L758F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518
AA Change: L758F

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 damaging
Transcript: ENSMUST00000173906
AA Change: L720F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134630
Gene: ENSMUSG00000038518
AA Change: L720F

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
Meta Mutation Damage Score 0.1854 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 96% (73/76)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,323,323 (GRCm39) F3387I possibly damaging Het
Acacb T A 5: 114,304,088 (GRCm39) S170R probably benign Het
Adamtsl4 A G 3: 95,588,960 (GRCm39) probably null Het
Adgrv1 A G 13: 81,637,050 (GRCm39) C3464R probably benign Het
Apbb1 A T 7: 105,214,889 (GRCm39) probably benign Het
Cad A G 5: 31,212,365 (GRCm39) T23A probably benign Het
Cdca7 A G 2: 72,313,759 (GRCm39) R183G probably benign Het
Cdpf1 T C 15: 85,693,513 (GRCm39) T5A probably benign Het
Cep85 T C 4: 133,883,490 (GRCm39) D133G probably damaging Het
Chrna9 T C 5: 66,128,359 (GRCm39) L189P probably damaging Het
Clca3a1 A C 3: 144,713,689 (GRCm39) probably null Het
Cntn1 G T 15: 92,140,876 (GRCm39) V201F probably damaging Het
Col4a3 A G 1: 82,644,267 (GRCm39) E352G unknown Het
Ddhd2 T C 8: 26,242,164 (GRCm39) Y237C probably damaging Het
Dnah6 A C 6: 73,014,605 (GRCm39) F3609V probably benign Het
Epha3 T C 16: 63,422,650 (GRCm39) K580R possibly damaging Het
Fam135b T C 15: 71,334,560 (GRCm39) N878S probably benign Het
Fbn1 T G 2: 125,171,022 (GRCm39) T1938P probably damaging Het
Foxg1 T C 12: 49,431,969 (GRCm39) V234A probably damaging Het
Garin5b T C 7: 4,761,660 (GRCm39) N351D probably benign Het
Glt1d1 A T 5: 127,721,478 (GRCm39) N55I probably benign Het
Gm17641 C A 3: 68,776,807 (GRCm39) probably benign Het
Gm7665 A G 18: 16,407,788 (GRCm39) noncoding transcript Het
Hgf A C 5: 16,819,892 (GRCm39) N541T probably benign Het
Hipk2 G A 6: 38,795,814 (GRCm39) P152S probably benign Het
Kifc5b A G 17: 27,143,761 (GRCm39) E511G probably damaging Het
Ldlr G A 9: 21,646,538 (GRCm39) A235T probably benign Het
Lmln A G 16: 32,894,550 (GRCm39) D231G possibly damaging Het
Lrp1 A G 10: 127,403,364 (GRCm39) C2070R probably damaging Het
Mbl1 A G 14: 40,880,681 (GRCm39) T190A possibly damaging Het
Mpdz A T 4: 81,299,934 (GRCm39) S355T probably benign Het
Muc19 C T 15: 91,772,332 (GRCm39) noncoding transcript Het
Mycbp2 A C 14: 103,376,671 (GRCm39) probably null Het
Naa20 T C 2: 145,757,762 (GRCm39) S164P probably damaging Het
Nme4 A T 17: 26,312,807 (GRCm39) probably benign Het
Npas2 A T 1: 39,386,587 (GRCm39) R619* probably null Het
Nudt19 G A 7: 35,255,171 (GRCm39) T20I possibly damaging Het
Or4c119 T A 2: 88,987,283 (GRCm39) K79* probably null Het
Or5b97 A G 19: 12,878,365 (GRCm39) Y260H probably damaging Het
Pitpnc1 A G 11: 107,187,054 (GRCm39) Y90H possibly damaging Het
Rcor2 A G 19: 7,247,150 (GRCm39) T6A probably benign Het
Rif1 T A 2: 51,999,940 (GRCm39) S1131R probably damaging Het
Rtkn T A 6: 83,127,972 (GRCm39) D377E probably benign Het
Rtn4rl2 T A 2: 84,702,846 (GRCm39) N242I probably damaging Het
Sbno2 G A 10: 79,898,022 (GRCm39) L719F probably benign Het
Scn11a G T 9: 119,648,897 (GRCm39) D55E probably damaging Het
Setd1b T A 5: 123,289,929 (GRCm39) I632N unknown Het
Spaca6 A G 17: 18,051,458 (GRCm39) T45A probably benign Het
Srpk2 A T 5: 23,729,390 (GRCm39) D416E possibly damaging Het
Sspo A T 6: 48,443,889 (GRCm39) probably null Het
Sycp1 A T 3: 102,752,370 (GRCm39) I804N probably benign Het
Tdp2 G A 13: 25,015,809 (GRCm39) R32Q probably benign Het
Tgfbr3 A G 5: 107,284,795 (GRCm39) V618A possibly damaging Het
Tmc3 C T 7: 83,258,326 (GRCm39) P439S probably benign Het
Tnxb A T 17: 34,936,457 (GRCm39) D2740V probably damaging Het
Tspyl4 A G 10: 34,173,933 (GRCm39) T142A probably benign Het
Ttn T C 2: 76,710,785 (GRCm39) probably benign Het
Tubgcp4 T C 2: 121,004,061 (GRCm39) L34P probably damaging Het
Tubgcp6 G T 15: 88,983,748 (GRCm39) probably benign Het
Unc79 T A 12: 103,078,962 (GRCm39) V1690E probably benign Het
Vps4b T C 1: 106,724,148 (GRCm39) probably null Het
Wtap A G 17: 13,186,525 (GRCm39) S341P possibly damaging Het
Wwc1 T C 11: 35,774,172 (GRCm39) T363A probably benign Het
Zbtb8a G A 4: 129,254,293 (GRCm39) T67M probably damaging Het
Zfp865 T C 7: 5,037,668 (GRCm39) 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
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'- GCTGCGCATTCCCAAAACTG -3'
(R):5'- TCACCTTATAGATGCACTTGTGG -3'

Sequencing Primer
(F):5'- AAGCTGCAGGAGGCCTACTG -3'
(R):5'- CTTGTGGAAGTCATTGAGGACACC -3'
Posted On 2016-06-15