Incidental Mutation 'R7976:Prdm2'
ID 650895
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 046019-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7976 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 142833961-142939560 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 142859812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 1159 (C1159*)
Ref Sequence ENSEMBL: ENSMUSP00000101404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778]
AlphaFold A2A7B5
Predicted Effect probably null
Transcript: ENSMUST00000105778
AA Change: C1159*
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: C1159*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A C 12: 112,602,831 (GRCm39) I341L probably benign Het
Aldh1b1 T A 4: 45,803,092 (GRCm39) M210K possibly damaging Het
Ankrd17 G A 5: 90,431,451 (GRCm39) Q778* probably null Het
Bmper T C 9: 23,318,106 (GRCm39) V575A probably damaging Het
Brinp2 A G 1: 158,073,913 (GRCm39) V736A probably benign Het
Ccdc81 A T 7: 89,515,723 (GRCm39) L652* probably null Het
Cdt1 C T 8: 123,298,585 (GRCm39) R437W probably damaging Het
Ckb A C 12: 111,637,466 (GRCm39) L165R possibly damaging Het
Col25a1 G T 3: 130,290,075 (GRCm39) G255V probably damaging Het
Ddx17 A G 15: 79,420,156 (GRCm39) probably null Het
Dennd4a G T 9: 64,759,794 (GRCm39) G300W possibly damaging Het
Dlg4 T A 11: 69,930,008 (GRCm39) I316N probably damaging Het
Dlgap2 C T 8: 14,793,410 (GRCm39) P467L probably benign Het
Dnah9 T C 11: 65,732,227 (GRCm39) I4226M possibly damaging Het
Drc1 G A 5: 30,521,829 (GRCm39) A734T probably benign Het
Entpd1 A G 19: 40,600,865 (GRCm39) M1V probably null Het
Exph5 T G 9: 53,287,935 (GRCm39) I1672S possibly damaging Het
Fam149b T A 14: 20,427,852 (GRCm39) D379E probably damaging Het
Fgfr2 T C 7: 129,787,074 (GRCm39) T461A probably damaging Het
Frem1 A G 4: 82,919,946 (GRCm39) V469A probably damaging Het
Frem3 A T 8: 81,338,231 (GRCm39) K175* probably null Het
Fsd2 C T 7: 81,209,629 (GRCm39) G71E probably benign Het
Gcat T C 15: 78,919,188 (GRCm39) I116T probably damaging Het
Gigyf2 G A 1: 87,331,458 (GRCm39) S202N unknown Het
Glra3 T G 8: 56,565,911 (GRCm39) probably null Het
Golga4 C T 9: 118,365,836 (GRCm39) T296I possibly damaging Het
Herc1 C T 9: 66,341,552 (GRCm39) T1816I possibly damaging Het
Igfbpl1 C A 4: 45,826,786 (GRCm39) R3L unknown Het
Ighv15-2 A T 12: 114,528,470 (GRCm39) S28T probably benign Het
Kat2b T A 17: 53,955,835 (GRCm39) M427K probably benign Het
Kdm4c A G 4: 74,295,906 (GRCm39) T882A probably damaging Het
Kif1a G T 1: 92,967,496 (GRCm39) F1138L probably damaging Het
Klhl20 A T 1: 160,934,307 (GRCm39) S237R probably benign Het
Lamc1 A T 1: 153,123,014 (GRCm39) N725K probably damaging Het
Lmtk3 A G 7: 45,444,890 (GRCm39) D1191G unknown Het
Ltbp1 C A 17: 75,670,358 (GRCm39) N1466K possibly damaging Het
Ly75 T C 2: 60,195,432 (GRCm39) E242G probably damaging Het
Lyrm1 T C 7: 119,515,449 (GRCm39) V113A probably benign Het
Mfsd13a G T 19: 46,360,446 (GRCm39) A333S probably benign Het
Mllt10 T C 2: 18,167,214 (GRCm39) S380P possibly damaging Het
Mrc2 A G 11: 105,238,829 (GRCm39) K1295E possibly damaging Het
Muc5ac A T 7: 141,363,528 (GRCm39) I2280F unknown Het
Neurod2 A C 11: 98,218,023 (GRCm39) F380L probably damaging Het
Ntrk3 G A 7: 78,005,954 (GRCm39) A469V probably damaging Het
Nup205 T C 6: 35,175,888 (GRCm39) F584L probably damaging Het
Oas1d A T 5: 121,057,210 (GRCm39) Y272F probably damaging Het
Olfm3 T C 3: 114,874,794 (GRCm39) V30A probably benign Het
Or4c110 T A 2: 88,831,973 (GRCm39) I220F probably damaging Het
Or5b117 A G 19: 13,431,563 (GRCm39) I106T probably benign Het
Or8k22 A G 2: 86,163,064 (GRCm39) V212A probably benign Het
Pcdhga12 A G 18: 37,901,427 (GRCm39) Y753C probably damaging Het
Phox2b A G 5: 67,253,514 (GRCm39) V294A unknown Het
Ptpn12 G T 5: 21,207,631 (GRCm39) S275* probably null Het
Rigi T C 4: 40,209,894 (GRCm39) M725V probably damaging Het
Rnf223 A T 4: 156,216,776 (GRCm39) E50D probably damaging Het
Rrp12 A T 19: 41,879,548 (GRCm39) Y169N probably benign Het
Sgip1 T C 4: 102,757,736 (GRCm39) probably null Het
Shank2 T C 7: 143,964,798 (GRCm39) I802T probably damaging Het
Skint2 A T 4: 112,481,329 (GRCm39) N64I probably damaging Het
Smpd3 A C 8: 106,982,254 (GRCm39) C617G probably benign Het
Tmem106c G C 15: 97,865,985 (GRCm39) G192R probably damaging Het
Tmem72 T C 6: 116,673,800 (GRCm39) H106R probably damaging Het
Upf2 G C 2: 6,030,926 (GRCm39) V789L unknown Het
Vash1 A G 12: 86,726,758 (GRCm39) probably benign Het
Vmn1r201 T A 13: 22,658,875 (GRCm39) Y30N probably benign Het
Xpr1 A G 1: 155,166,035 (GRCm39) F571L possibly damaging Het
Yif1a T C 19: 5,139,815 (GRCm39) S87P probably damaging Het
Zer1 T C 2: 29,997,520 (GRCm39) Y462C probably damaging Het
Zfp597 G A 16: 3,684,375 (GRCm39) P127L possibly damaging Het
Zxdc T C 6: 90,375,749 (GRCm39) S742P 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
R0384:Prdm2 UTSW 4 142,862,258 (GRCm39) missense probably benign 0.01
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
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'- ACTCGTGGTGTGTGCATAACTC -3'
(R):5'- AACCTGGAAGCATCTCTCCC -3'

Sequencing Primer
(F):5'- CATAACTCATCTGGGTGGAGATCAC -3'
(R):5'- TGGAAGCATCTCTCCCTGCAATAAC -3'
Posted On 2020-09-15