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, E330024L24Rik, Riz1, Riz, 4833427P12Rik
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 143107391-143212995 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 143133242 bp (GRCm38)
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
Adssl1 A C 12: 112,636,397 (GRCm38) I341L probably benign Het
Aldh1b1 T A 4: 45,803,092 (GRCm38) M210K possibly damaging Het
Ankrd17 G A 5: 90,283,592 (GRCm38) Q778* probably null Het
Bmper T C 9: 23,406,810 (GRCm38) V575A probably damaging Het
Brinp2 A G 1: 158,246,343 (GRCm38) V736A probably benign Het
Ccdc81 A T 7: 89,866,515 (GRCm38) L652* probably null Het
Cdt1 C T 8: 122,571,846 (GRCm38) R437W probably damaging Het
Ckb A C 12: 111,671,032 (GRCm38) L165R possibly damaging Het
Col25a1 G T 3: 130,496,426 (GRCm38) G255V probably damaging Het
Ddx17 A G 15: 79,535,955 (GRCm38) probably null Het
Ddx58 T C 4: 40,209,894 (GRCm38) M725V probably damaging Het
Dennd4a G T 9: 64,852,512 (GRCm38) G300W possibly damaging Het
Dlg4 T A 11: 70,039,182 (GRCm38) I316N probably damaging Het
Dlgap2 C T 8: 14,743,410 (GRCm38) P467L probably benign Het
Dnah9 T C 11: 65,841,401 (GRCm38) I4226M possibly damaging Het
Drc1 G A 5: 30,364,485 (GRCm38) A734T probably benign Het
Entpd1 A G 19: 40,612,421 (GRCm38) M1V probably null Het
Exph5 T G 9: 53,376,635 (GRCm38) I1672S possibly damaging Het
Fam149b T A 14: 20,377,784 (GRCm38) D379E probably damaging Het
Fgfr2 T C 7: 130,185,344 (GRCm38) T461A probably damaging Het
Frem1 A G 4: 83,001,709 (GRCm38) V469A probably damaging Het
Frem3 A T 8: 80,611,602 (GRCm38) K175* probably null Het
Fsd2 C T 7: 81,559,881 (GRCm38) G71E probably benign Het
Gcat T C 15: 79,034,988 (GRCm38) I116T probably damaging Het
Gigyf2 G A 1: 87,403,736 (GRCm38) S202N unknown Het
Glra3 T G 8: 56,112,876 (GRCm38) probably null Het
Golga4 C T 9: 118,536,768 (GRCm38) T296I possibly damaging Het
Herc1 C T 9: 66,434,270 (GRCm38) T1816I possibly damaging Het
Igfbpl1 C A 4: 45,826,786 (GRCm38) R3L unknown Het
Ighv15-2 A T 12: 114,564,850 (GRCm38) S28T probably benign Het
Kat2b T A 17: 53,648,807 (GRCm38) M427K probably benign Het
Kdm4c A G 4: 74,377,669 (GRCm38) T882A probably damaging Het
Kif1a G T 1: 93,039,774 (GRCm38) F1138L probably damaging Het
Klhl20 A T 1: 161,106,737 (GRCm38) S237R probably benign Het
Lamc1 A T 1: 153,247,268 (GRCm38) N725K probably damaging Het
Lmtk3 A G 7: 45,795,466 (GRCm38) D1191G unknown Het
Ltbp1 C A 17: 75,363,363 (GRCm38) N1466K possibly damaging Het
Ly75 T C 2: 60,365,088 (GRCm38) E242G probably damaging Het
Lyrm1 T C 7: 119,916,226 (GRCm38) V113A probably benign Het
Mfsd13a G T 19: 46,372,007 (GRCm38) A333S probably benign Het
Mllt10 T C 2: 18,162,403 (GRCm38) S380P possibly damaging Het
Mrc2 A G 11: 105,348,003 (GRCm38) K1295E possibly damaging Het
Muc5ac A T 7: 141,809,791 (GRCm38) I2280F unknown Het
Neurod2 A C 11: 98,327,197 (GRCm38) F380L probably damaging Het
Ntrk3 G A 7: 78,356,206 (GRCm38) A469V probably damaging Het
Nup205 T C 6: 35,198,953 (GRCm38) F584L probably damaging Het
Oas1d A T 5: 120,919,147 (GRCm38) Y272F probably damaging Het
Olfm3 T C 3: 115,081,145 (GRCm38) V30A probably benign Het
Olfr1054 A G 2: 86,332,720 (GRCm38) V212A probably benign Het
Olfr1215 T A 2: 89,001,629 (GRCm38) I220F probably damaging Het
Olfr1472 A G 19: 13,454,199 (GRCm38) I106T probably benign Het
Pcdhga12 A G 18: 37,768,374 (GRCm38) Y753C probably damaging Het
Phox2b A G 5: 67,096,171 (GRCm38) V294A unknown Het
Ptpn12 G T 5: 21,002,633 (GRCm38) S275* probably null Het
Rnf223 A T 4: 156,132,319 (GRCm38) E50D probably damaging Het
Rrp12 A T 19: 41,891,109 (GRCm38) Y169N probably benign Het
Sgip1 T C 4: 102,900,539 (GRCm38) probably null Het
Shank2 T C 7: 144,411,061 (GRCm38) I802T probably damaging Het
Skint2 A T 4: 112,624,132 (GRCm38) N64I probably damaging Het
Smpd3 A C 8: 106,255,622 (GRCm38) C617G probably benign Het
Tmem106c G C 15: 97,968,104 (GRCm38) G192R probably damaging Het
Tmem72 T C 6: 116,696,839 (GRCm38) H106R probably damaging Het
Upf2 G C 2: 6,026,115 (GRCm38) V789L unknown Het
Vash1 A G 12: 86,679,984 (GRCm38) probably benign Het
Vmn1r201 T A 13: 22,474,705 (GRCm38) Y30N probably benign Het
Xpr1 A G 1: 155,290,289 (GRCm38) F571L possibly damaging Het
Yif1a T C 19: 5,089,787 (GRCm38) S87P probably damaging Het
Zer1 T C 2: 30,107,508 (GRCm38) Y462C probably damaging Het
Zfp597 G A 16: 3,866,511 (GRCm38) P127L possibly damaging Het
Zxdc T C 6: 90,398,767 (GRCm38) S742P probably benign Het
Other mutations in Prdm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00530:Prdm2 APN 4 143,133,759 (GRCm38) missense probably damaging 0.99
IGL00843:Prdm2 APN 4 143,134,314 (GRCm38) missense probably damaging 1.00
IGL01419:Prdm2 APN 4 143,133,648 (GRCm38) missense probably damaging 0.99
IGL01662:Prdm2 APN 4 143,133,568 (GRCm38) missense possibly damaging 0.73
IGL01892:Prdm2 APN 4 143,134,404 (GRCm38) missense probably damaging 1.00
IGL02104:Prdm2 APN 4 143,133,427 (GRCm38) missense probably benign 0.01
IGL02208:Prdm2 APN 4 143,135,743 (GRCm38) missense probably benign 0.01
IGL02260:Prdm2 APN 4 143,134,587 (GRCm38) missense probably damaging 1.00
IGL02479:Prdm2 APN 4 143,134,929 (GRCm38) missense probably damaging 1.00
IGL02943:Prdm2 APN 4 143,131,972 (GRCm38) missense probably benign
IGL02972:Prdm2 APN 4 143,132,166 (GRCm38) missense probably benign
IGL03038:Prdm2 APN 4 143,134,001 (GRCm38) missense probably damaging 1.00
IGL03399:Prdm2 APN 4 143,135,088 (GRCm38) missense probably benign 0.07
G1patch:Prdm2 UTSW 4 143,132,901 (GRCm38) missense possibly damaging 0.96
PIT4677001:Prdm2 UTSW 4 143,135,078 (GRCm38) missense probably damaging 1.00
R0088:Prdm2 UTSW 4 143,134,954 (GRCm38) missense possibly damaging 0.86
R0153:Prdm2 UTSW 4 143,133,768 (GRCm38) missense possibly damaging 0.93
R0320:Prdm2 UTSW 4 143,179,351 (GRCm38) missense probably damaging 1.00
R0384:Prdm2 UTSW 4 143,135,688 (GRCm38) missense probably benign 0.01
R0400:Prdm2 UTSW 4 143,111,670 (GRCm38) missense probably benign
R0658:Prdm2 UTSW 4 143,135,265 (GRCm38) missense probably damaging 1.00
R0850:Prdm2 UTSW 4 143,132,203 (GRCm38) missense possibly damaging 0.53
R1118:Prdm2 UTSW 4 143,132,383 (GRCm38) missense possibly damaging 0.52
R1355:Prdm2 UTSW 4 143,131,963 (GRCm38) missense probably benign 0.33
R1519:Prdm2 UTSW 4 143,135,583 (GRCm38) missense probably damaging 1.00
R1936:Prdm2 UTSW 4 143,134,462 (GRCm38) missense probably benign 0.00
R1987:Prdm2 UTSW 4 143,132,509 (GRCm38) missense possibly damaging 0.73
R2006:Prdm2 UTSW 4 143,131,877 (GRCm38) missense possibly damaging 0.73
R2008:Prdm2 UTSW 4 143,134,947 (GRCm38) missense probably damaging 1.00
R2030:Prdm2 UTSW 4 143,132,764 (GRCm38) missense possibly damaging 0.53
R2112:Prdm2 UTSW 4 143,131,936 (GRCm38) missense probably benign
R2221:Prdm2 UTSW 4 143,134,899 (GRCm38) missense possibly damaging 0.58
R2223:Prdm2 UTSW 4 143,134,899 (GRCm38) missense possibly damaging 0.58
R2426:Prdm2 UTSW 4 143,111,750 (GRCm38) nonsense probably null
R2430:Prdm2 UTSW 4 143,133,163 (GRCm38) missense possibly damaging 0.73
R2484:Prdm2 UTSW 4 143,135,206 (GRCm38) missense probably damaging 1.00
R3735:Prdm2 UTSW 4 143,134,359 (GRCm38) missense probably damaging 1.00
R3944:Prdm2 UTSW 4 143,131,815 (GRCm38) missense possibly damaging 0.53
R4209:Prdm2 UTSW 4 143,134,437 (GRCm38) missense probably damaging 1.00
R4411:Prdm2 UTSW 4 143,133,670 (GRCm38) missense probably benign 0.18
R4647:Prdm2 UTSW 4 143,132,955 (GRCm38) missense possibly damaging 0.85
R4898:Prdm2 UTSW 4 143,134,191 (GRCm38) missense probably damaging 1.00
R5032:Prdm2 UTSW 4 143,179,367 (GRCm38) nonsense probably null
R5181:Prdm2 UTSW 4 143,134,966 (GRCm38) missense probably benign 0.35
R5513:Prdm2 UTSW 4 143,135,893 (GRCm38) small deletion probably benign
R5539:Prdm2 UTSW 4 143,132,694 (GRCm38) missense possibly damaging 0.53
R5563:Prdm2 UTSW 4 143,134,630 (GRCm38) missense probably benign 0.09
R5618:Prdm2 UTSW 4 143,133,537 (GRCm38) missense probably benign 0.00
R5900:Prdm2 UTSW 4 143,134,720 (GRCm38) missense probably damaging 1.00
R5990:Prdm2 UTSW 4 143,170,113 (GRCm38) missense probably damaging 1.00
R6148:Prdm2 UTSW 4 143,132,907 (GRCm38) missense probably benign 0.33
R6166:Prdm2 UTSW 4 143,134,736 (GRCm38) missense probably damaging 0.99
R6223:Prdm2 UTSW 4 143,142,207 (GRCm38) missense probably benign 0.41
R6530:Prdm2 UTSW 4 143,134,047 (GRCm38) missense probably benign 0.05
R6631:Prdm2 UTSW 4 143,134,884 (GRCm38) missense probably benign 0.05
R6725:Prdm2 UTSW 4 143,132,901 (GRCm38) missense possibly damaging 0.96
R6847:Prdm2 UTSW 4 143,132,950 (GRCm38) missense probably benign 0.18
R7193:Prdm2 UTSW 4 143,180,894 (GRCm38) missense probably damaging 1.00
R7238:Prdm2 UTSW 4 143,135,821 (GRCm38) missense probably benign 0.35
R7292:Prdm2 UTSW 4 143,132,901 (GRCm38) missense possibly damaging 0.96
R7417:Prdm2 UTSW 4 143,179,299 (GRCm38) missense probably damaging 1.00
R7748:Prdm2 UTSW 4 143,135,889 (GRCm38) missense possibly damaging 0.89
R7885:Prdm2 UTSW 4 143,134,570 (GRCm38) missense probably benign 0.41
R7936:Prdm2 UTSW 4 143,135,864 (GRCm38) missense probably damaging 0.99
R8124:Prdm2 UTSW 4 143,135,265 (GRCm38) missense probably damaging 1.00
R8150:Prdm2 UTSW 4 143,132,733 (GRCm38) missense possibly damaging 0.73
R8156:Prdm2 UTSW 4 143,134,768 (GRCm38) missense probably benign 0.01
R8178:Prdm2 UTSW 4 143,132,448 (GRCm38) missense probably benign 0.33
R8235:Prdm2 UTSW 4 143,132,467 (GRCm38) nonsense probably null
R8404:Prdm2 UTSW 4 143,135,014 (GRCm38) missense probably damaging 0.98
R8498:Prdm2 UTSW 4 143,180,897 (GRCm38) missense probably damaging 1.00
R8502:Prdm2 UTSW 4 143,135,014 (GRCm38) missense probably damaging 0.98
R8688:Prdm2 UTSW 4 143,111,740 (GRCm38) missense probably benign
R8732:Prdm2 UTSW 4 143,136,010 (GRCm38) missense probably benign 0.00
R8796:Prdm2 UTSW 4 143,133,447 (GRCm38) missense probably benign 0.33
R8874:Prdm2 UTSW 4 143,133,215 (GRCm38) missense possibly damaging 0.70
R8887:Prdm2 UTSW 4 143,134,201 (GRCm38) missense probably damaging 1.00
R9119:Prdm2 UTSW 4 143,131,879 (GRCm38) nonsense probably null
R9139:Prdm2 UTSW 4 143,132,182 (GRCm38) missense probably benign 0.03
R9165:Prdm2 UTSW 4 143,132,104 (GRCm38) missense possibly damaging 0.73
R9342:Prdm2 UTSW 4 143,134,908 (GRCm38) missense probably damaging 1.00
R9518:Prdm2 UTSW 4 143,134,009 (GRCm38) missense possibly damaging 0.94
R9546:Prdm2 UTSW 4 143,134,991 (GRCm38) missense probably damaging 1.00
R9547:Prdm2 UTSW 4 143,134,991 (GRCm38) missense probably damaging 1.00
R9680:Prdm2 UTSW 4 143,132,509 (GRCm38) missense possibly damaging 0.73
R9730:Prdm2 UTSW 4 143,132,089 (GRCm38) missense possibly damaging 0.73
X0017:Prdm2 UTSW 4 143,134,707 (GRCm38) 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