Incidental Mutation 'R0384:Prdm2'
ID 31156
Institutional Source Beutler Lab
Gene Symbol Prdm2
Ensembl Gene ENSMUSG00000057637
Gene Name PR domain containing 2, with ZNF domain
Synonyms KMT8, LOC381568, Riz, E330024L24Rik, 4833427P12Rik, Riz1
MMRRC Submission 038590-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0384 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 142833961-142939560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142862258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 344 (E344G)
Ref Sequence ENSEMBL: ENSMUSP00000101404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778]
AlphaFold A2A7B5
Predicted Effect probably benign
Transcript: ENSMUST00000105778
AA Change: E344G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: E344G

DomainStartEndE-ValueType
SET 29 146 2.79e-21 SMART
coiled coil region 254 293 N/A INTRINSIC
low complexity region 333 346 N/A INTRINSIC
ZnF_C2H2 356 378 2.95e-3 SMART
ZnF_C2H2 386 408 4.79e-3 SMART
ZnF_C2H2 477 500 4.17e-3 SMART
low complexity region 517 528 N/A INTRINSIC
low complexity region 653 669 N/A INTRINSIC
low complexity region 682 697 N/A INTRINSIC
low complexity region 726 744 N/A INTRINSIC
low complexity region 868 877 N/A INTRINSIC
low complexity region 931 951 N/A INTRINSIC
low complexity region 954 992 N/A INTRINSIC
low complexity region 1011 1032 N/A INTRINSIC
low complexity region 1035 1080 N/A INTRINSIC
ZnF_C2H2 1126 1148 3.52e-1 SMART
ZnF_C2H2 1154 1177 7.55e-1 SMART
ZnF_C2H2 1183 1206 4.72e-2 SMART
low complexity region 1239 1253 N/A INTRINSIC
ZnF_C2H2 1324 1344 5.12e1 SMART
low complexity region 1406 1423 N/A INTRINSIC
ZnF_C2H2 1446 1466 1.86e1 SMART
low complexity region 1475 1507 N/A INTRINSIC
low complexity region 1551 1568 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197026
Meta Mutation Damage Score 0.0701 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.7%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous null mice have shortened life spans, becoming moribund due to increased incidence of tumors. Mice had a broad spectrum of unusual tumors in multiple organs, with a high incidence of diffuse large B cell lymphomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 T A 7: 139,566,725 (GRCm39) probably benign Het
Akr1b8 T C 6: 34,341,265 (GRCm39) probably benign Het
Arhgef39 A G 4: 43,498,613 (GRCm39) L117P probably damaging Het
Atp13a1 A T 8: 70,249,974 (GRCm39) Q356L possibly damaging Het
Bmp2k T A 5: 97,178,984 (GRCm39) probably benign Het
Ccdc141 A G 2: 76,857,992 (GRCm39) V1063A probably damaging Het
Col20a1 T C 2: 180,640,955 (GRCm39) Y568H probably benign Het
Crabp2 T C 3: 87,860,328 (GRCm39) V134A possibly damaging Het
Cyp19a1 T C 9: 54,080,025 (GRCm39) K265E probably benign Het
Cyp2j9 T C 4: 96,474,122 (GRCm39) H106R probably benign Het
Dcps T C 9: 35,087,239 (GRCm39) K9R probably damaging Het
Dnajc6 C T 4: 101,456,153 (GRCm39) T47I probably damaging Het
Dnhd1 T G 7: 105,369,321 (GRCm39) S4315A possibly damaging Het
Dnmt3l A T 10: 77,888,571 (GRCm39) I158F possibly damaging Het
Dock3 A G 9: 106,779,094 (GRCm39) probably benign Het
Eefsec A G 6: 88,258,632 (GRCm39) probably null Het
Fam204a T C 19: 60,209,728 (GRCm39) M1V probably null Het
Fam98b T C 2: 117,098,328 (GRCm39) V266A possibly damaging Het
Fat2 A T 11: 55,160,291 (GRCm39) I3274N possibly damaging Het
Fbh1 A G 2: 11,754,389 (GRCm39) I198T probably damaging Het
Fer T C 17: 64,231,179 (GRCm39) probably benign Het
Fhad1 T A 4: 141,729,737 (GRCm39) M89L probably benign Het
Fjx1 C A 2: 102,281,452 (GRCm39) C161F probably damaging Het
Fkbp7 T A 2: 76,496,168 (GRCm39) probably benign Het
Gm42669 T A 5: 107,656,664 (GRCm39) C976S probably benign Het
Gm4845 T C 1: 141,184,823 (GRCm39) noncoding transcript Het
Herc1 T A 9: 66,388,332 (GRCm39) probably benign Het
Hook3 C T 8: 26,534,263 (GRCm39) probably null Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Itga2b A T 11: 102,356,188 (GRCm39) probably null Het
Klk1b21 T C 7: 43,754,917 (GRCm39) Y71H probably benign Het
Kndc1 A T 7: 139,490,515 (GRCm39) N339I possibly damaging Het
Ky C T 9: 102,419,289 (GRCm39) T432I probably benign Het
Map4 C T 9: 109,863,696 (GRCm39) T307I probably damaging Het
Matn1 T C 4: 130,671,787 (GRCm39) L18P probably benign Het
Mindy4 G A 6: 55,193,669 (GRCm39) D121N probably damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Msto1 G A 3: 88,817,646 (GRCm39) Q441* probably null Het
Muc5ac A G 7: 141,365,988 (GRCm39) H2048R possibly damaging Het
Musk T C 4: 58,373,711 (GRCm39) *879Q probably null Het
Nat8f2 T C 6: 85,845,350 (GRCm39) Y4C possibly damaging Het
Ncaph2 T A 15: 89,253,594 (GRCm39) I282N probably benign Het
Nid1 A G 13: 13,638,421 (GRCm39) T114A probably benign Het
Npr1 C A 3: 90,372,474 (GRCm39) G113C probably damaging Het
Nrxn1 G A 17: 90,515,775 (GRCm39) P193S probably damaging Het
Nwd2 T C 5: 63,963,025 (GRCm39) F870L probably benign Het
Or10h1b A G 17: 33,395,522 (GRCm39) I45V probably damaging Het
Or4c122 A G 2: 89,079,414 (GRCm39) I208T possibly damaging Het
Or6c5c T A 10: 129,298,909 (GRCm39) Y121* probably null Het
Or8k30 T A 2: 86,339,727 (GRCm39) I308K possibly damaging Het
Phf14 A G 6: 11,997,019 (GRCm39) probably benign Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Psmd12 T C 11: 107,376,547 (GRCm39) V61A probably benign Het
Relt T C 7: 100,496,712 (GRCm39) D385G probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scg2 T A 1: 79,413,266 (GRCm39) I446F probably benign Het
Sema3b G A 9: 107,478,165 (GRCm39) L407F probably damaging Het
Slc25a13 A T 6: 6,042,600 (GRCm39) Y601* probably null Het
Sun5 C T 2: 153,700,885 (GRCm39) V270I probably benign Het
Tex52 A G 6: 128,356,496 (GRCm39) Y63C probably damaging Het
Tmem138 A G 19: 10,552,186 (GRCm39) probably benign Het
Tnpo3 A G 6: 29,582,163 (GRCm39) probably null Het
Tspoap1 A T 11: 87,657,280 (GRCm39) Q364L probably damaging Het
Ttc41 T C 10: 86,599,811 (GRCm39) L1037P probably damaging Het
Ugcg T A 4: 59,220,387 (GRCm39) D393E possibly damaging Het
Vmn1r184 T C 7: 25,967,076 (GRCm39) I274T probably benign Het
Vmn2r27 A G 6: 124,200,871 (GRCm39) V362A probably benign Het
Vmn2r87 T A 10: 130,307,712 (GRCm39) Y842F probably benign Het
Vps8 T A 16: 21,325,575 (GRCm39) probably benign Het
Other mutations in Prdm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00530:Prdm2 APN 4 142,860,329 (GRCm39) missense probably damaging 0.99
IGL00843:Prdm2 APN 4 142,860,884 (GRCm39) missense probably damaging 1.00
IGL01419:Prdm2 APN 4 142,860,218 (GRCm39) missense probably damaging 0.99
IGL01662:Prdm2 APN 4 142,860,138 (GRCm39) missense possibly damaging 0.73
IGL01892:Prdm2 APN 4 142,860,974 (GRCm39) missense probably damaging 1.00
IGL02104:Prdm2 APN 4 142,859,997 (GRCm39) missense probably benign 0.01
IGL02208:Prdm2 APN 4 142,862,313 (GRCm39) missense probably benign 0.01
IGL02260:Prdm2 APN 4 142,861,157 (GRCm39) missense probably damaging 1.00
IGL02479:Prdm2 APN 4 142,861,499 (GRCm39) missense probably damaging 1.00
IGL02943:Prdm2 APN 4 142,858,542 (GRCm39) missense probably benign
IGL02972:Prdm2 APN 4 142,858,736 (GRCm39) missense probably benign
IGL03038:Prdm2 APN 4 142,860,571 (GRCm39) missense probably damaging 1.00
IGL03399:Prdm2 APN 4 142,861,658 (GRCm39) missense probably benign 0.07
G1patch:Prdm2 UTSW 4 142,859,471 (GRCm39) missense possibly damaging 0.96
PIT4677001:Prdm2 UTSW 4 142,861,648 (GRCm39) missense probably damaging 1.00
R0088:Prdm2 UTSW 4 142,861,524 (GRCm39) missense possibly damaging 0.86
R0153:Prdm2 UTSW 4 142,860,338 (GRCm39) missense possibly damaging 0.93
R0320:Prdm2 UTSW 4 142,905,921 (GRCm39) missense probably damaging 1.00
R0400:Prdm2 UTSW 4 142,838,240 (GRCm39) missense probably benign
R0658:Prdm2 UTSW 4 142,861,835 (GRCm39) missense probably damaging 1.00
R0850:Prdm2 UTSW 4 142,858,773 (GRCm39) missense possibly damaging 0.53
R1118:Prdm2 UTSW 4 142,858,953 (GRCm39) missense possibly damaging 0.52
R1355:Prdm2 UTSW 4 142,858,533 (GRCm39) missense probably benign 0.33
R1519:Prdm2 UTSW 4 142,862,153 (GRCm39) missense probably damaging 1.00
R1936:Prdm2 UTSW 4 142,861,032 (GRCm39) missense probably benign 0.00
R1987:Prdm2 UTSW 4 142,859,079 (GRCm39) missense possibly damaging 0.73
R2006:Prdm2 UTSW 4 142,858,447 (GRCm39) missense possibly damaging 0.73
R2008:Prdm2 UTSW 4 142,861,517 (GRCm39) missense probably damaging 1.00
R2030:Prdm2 UTSW 4 142,859,334 (GRCm39) missense possibly damaging 0.53
R2112:Prdm2 UTSW 4 142,858,506 (GRCm39) missense probably benign
R2221:Prdm2 UTSW 4 142,861,469 (GRCm39) missense possibly damaging 0.58
R2223:Prdm2 UTSW 4 142,861,469 (GRCm39) missense possibly damaging 0.58
R2426:Prdm2 UTSW 4 142,838,320 (GRCm39) nonsense probably null
R2430:Prdm2 UTSW 4 142,859,733 (GRCm39) missense possibly damaging 0.73
R2484:Prdm2 UTSW 4 142,861,776 (GRCm39) missense probably damaging 1.00
R3735:Prdm2 UTSW 4 142,860,929 (GRCm39) missense probably damaging 1.00
R3944:Prdm2 UTSW 4 142,858,385 (GRCm39) missense possibly damaging 0.53
R4209:Prdm2 UTSW 4 142,861,007 (GRCm39) missense probably damaging 1.00
R4411:Prdm2 UTSW 4 142,860,240 (GRCm39) missense probably benign 0.18
R4647:Prdm2 UTSW 4 142,859,525 (GRCm39) missense possibly damaging 0.85
R4898:Prdm2 UTSW 4 142,860,761 (GRCm39) missense probably damaging 1.00
R5032:Prdm2 UTSW 4 142,905,937 (GRCm39) nonsense probably null
R5181:Prdm2 UTSW 4 142,861,536 (GRCm39) missense probably benign 0.35
R5513:Prdm2 UTSW 4 142,862,463 (GRCm39) small deletion probably benign
R5539:Prdm2 UTSW 4 142,859,264 (GRCm39) missense possibly damaging 0.53
R5563:Prdm2 UTSW 4 142,861,200 (GRCm39) missense probably benign 0.09
R5618:Prdm2 UTSW 4 142,860,107 (GRCm39) missense probably benign 0.00
R5900:Prdm2 UTSW 4 142,861,290 (GRCm39) missense probably damaging 1.00
R5990:Prdm2 UTSW 4 142,896,683 (GRCm39) missense probably damaging 1.00
R6148:Prdm2 UTSW 4 142,859,477 (GRCm39) missense probably benign 0.33
R6166:Prdm2 UTSW 4 142,861,306 (GRCm39) missense probably damaging 0.99
R6223:Prdm2 UTSW 4 142,868,777 (GRCm39) missense probably benign 0.41
R6530:Prdm2 UTSW 4 142,860,617 (GRCm39) missense probably benign 0.05
R6631:Prdm2 UTSW 4 142,861,454 (GRCm39) missense probably benign 0.05
R6725:Prdm2 UTSW 4 142,859,471 (GRCm39) missense possibly damaging 0.96
R6847:Prdm2 UTSW 4 142,859,520 (GRCm39) missense probably benign 0.18
R7193:Prdm2 UTSW 4 142,907,464 (GRCm39) missense probably damaging 1.00
R7238:Prdm2 UTSW 4 142,862,391 (GRCm39) missense probably benign 0.35
R7292:Prdm2 UTSW 4 142,859,471 (GRCm39) missense possibly damaging 0.96
R7417:Prdm2 UTSW 4 142,905,869 (GRCm39) missense probably damaging 1.00
R7748:Prdm2 UTSW 4 142,862,459 (GRCm39) missense possibly damaging 0.89
R7885:Prdm2 UTSW 4 142,861,140 (GRCm39) missense probably benign 0.41
R7936:Prdm2 UTSW 4 142,862,434 (GRCm39) missense probably damaging 0.99
R7976:Prdm2 UTSW 4 142,859,812 (GRCm39) nonsense probably null
R8124:Prdm2 UTSW 4 142,861,835 (GRCm39) missense probably damaging 1.00
R8150:Prdm2 UTSW 4 142,859,303 (GRCm39) missense possibly damaging 0.73
R8156:Prdm2 UTSW 4 142,861,338 (GRCm39) missense probably benign 0.01
R8178:Prdm2 UTSW 4 142,859,018 (GRCm39) missense probably benign 0.33
R8235:Prdm2 UTSW 4 142,859,037 (GRCm39) nonsense probably null
R8404:Prdm2 UTSW 4 142,861,584 (GRCm39) missense probably damaging 0.98
R8498:Prdm2 UTSW 4 142,907,467 (GRCm39) missense probably damaging 1.00
R8502:Prdm2 UTSW 4 142,861,584 (GRCm39) missense probably damaging 0.98
R8688:Prdm2 UTSW 4 142,838,310 (GRCm39) missense probably benign
R8732:Prdm2 UTSW 4 142,862,580 (GRCm39) missense probably benign 0.00
R8796:Prdm2 UTSW 4 142,860,017 (GRCm39) missense probably benign 0.33
R8874:Prdm2 UTSW 4 142,859,785 (GRCm39) missense possibly damaging 0.70
R8887:Prdm2 UTSW 4 142,860,771 (GRCm39) missense probably damaging 1.00
R9119:Prdm2 UTSW 4 142,858,449 (GRCm39) nonsense probably null
R9139:Prdm2 UTSW 4 142,858,752 (GRCm39) missense probably benign 0.03
R9165:Prdm2 UTSW 4 142,858,674 (GRCm39) missense possibly damaging 0.73
R9342:Prdm2 UTSW 4 142,861,478 (GRCm39) missense probably damaging 1.00
R9518:Prdm2 UTSW 4 142,860,579 (GRCm39) missense possibly damaging 0.94
R9546:Prdm2 UTSW 4 142,861,561 (GRCm39) missense probably damaging 1.00
R9547:Prdm2 UTSW 4 142,861,561 (GRCm39) missense probably damaging 1.00
R9680:Prdm2 UTSW 4 142,859,079 (GRCm39) missense possibly damaging 0.73
R9730:Prdm2 UTSW 4 142,858,659 (GRCm39) missense possibly damaging 0.73
X0017:Prdm2 UTSW 4 142,861,277 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGTGCCAAATGGTTTCCCACAG -3'
(R):5'- AAGCCAGGATGCAGTTCCACAG -3'

Sequencing Primer
(F):5'- CAGTACTTGCACTTGAAAGCG -3'
(R):5'- ggaagaggaggaggaggag -3'
Posted On 2013-04-24