Incidental Mutation 'R0400:Prdm2'
ID 38118
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 038605-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0400 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 143107391-143212995 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143111670 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 1706 (F1706S)
Ref Sequence ENSEMBL: ENSMUSP00000101404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778]
AlphaFold A2A7B5
Predicted Effect probably benign
Transcript: ENSMUST00000105778
AA Change: F1706S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: F1706S

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
Meta Mutation Damage Score 0.0628 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.8%
Validation Efficiency 97% (76/78)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik T A 11: 30,426,360 (GRCm38) H169L probably benign Het
9130230L23Rik T C 5: 65,990,356 (GRCm38) D28G unknown Het
Abca12 T A 1: 71,259,776 (GRCm38) probably benign Het
Acsl5 T C 19: 55,293,711 (GRCm38) V573A probably damaging Het
Agap1 A G 1: 89,843,250 (GRCm38) probably benign Het
Arid2 A G 15: 96,356,925 (GRCm38) probably benign Het
B430305J03Rik T A 3: 61,364,135 (GRCm38) probably benign Het
Brsk2 T C 7: 141,998,553 (GRCm38) L584P probably damaging Het
C2cd4c A G 10: 79,613,209 (GRCm38) Y35H probably damaging Het
Cacul1 A G 19: 60,563,153 (GRCm38) probably benign Het
Cers3 T C 7: 66,764,330 (GRCm38) V88A probably benign Het
Cnnm1 A T 19: 43,468,364 (GRCm38) H614L probably damaging Het
Col1a1 T A 11: 94,941,369 (GRCm38) probably benign Het
Cyp1b1 T A 17: 79,713,587 (GRCm38) D242V probably damaging Het
Cyp4a31 T C 4: 115,563,718 (GRCm38) M1T probably null Het
Dbn1 C T 13: 55,474,916 (GRCm38) E585K probably damaging Het
Dclk2 A T 3: 86,813,747 (GRCm38) probably null Het
Dnah17 A G 11: 118,082,078 (GRCm38) S2010P probably damaging Het
Dram2 T C 3: 106,573,618 (GRCm38) L246P probably damaging Het
Dus2 A T 8: 106,048,677 (GRCm38) T279S probably benign Het
Epn2 T C 11: 61,532,696 (GRCm38) probably null Het
Esco2 C A 14: 65,831,706 (GRCm38) V52F possibly damaging Het
Fbp1 T A 13: 62,865,068 (GRCm38) T104S probably benign Het
Foxj2 A T 6: 122,833,808 (GRCm38) Q249L possibly damaging Het
Galnt7 T C 8: 57,583,989 (GRCm38) Y122C probably damaging Het
Gimd1 T C 3: 132,634,827 (GRCm38) Y35H probably benign Het
Gipc2 A G 3: 152,165,668 (GRCm38) F74L probably damaging Het
Glt1d1 T A 5: 127,657,075 (GRCm38) probably benign Het
Hmcn2 A G 2: 31,400,129 (GRCm38) T2325A probably damaging Het
Iffo1 A G 6: 125,153,471 (GRCm38) K471R probably damaging Het
Ireb2 G A 9: 54,896,498 (GRCm38) R491H probably benign Het
Isg20 A G 7: 78,916,725 (GRCm38) N141D possibly damaging Het
Kmt5c G A 7: 4,746,244 (GRCm38) R100H probably benign Het
Lrp1b T C 2: 40,750,914 (GRCm38) D3506G probably benign Het
Lrrn4 A C 2: 132,878,020 (GRCm38) F287V probably benign Het
Maco1 T C 4: 134,828,116 (GRCm38) K349E probably benign Het
Mmrn1 A C 6: 60,977,115 (GRCm38) K793N probably benign Het
Muc16 A G 9: 18,510,534 (GRCm38) V8227A possibly damaging Het
Myh2 C T 11: 67,192,598 (GRCm38) probably benign Het
Nalcn T A 14: 123,290,960 (GRCm38) probably benign Het
Nfia T C 4: 98,063,136 (GRCm38) V400A probably damaging Het
Nxph4 T A 10: 127,526,258 (GRCm38) T255S possibly damaging Het
Olfm5 G A 7: 104,154,179 (GRCm38) T359I probably damaging Het
Or1e33 T C 11: 73,848,041 (GRCm38) Y28C probably benign Het
Or5t18 A G 2: 86,806,651 (GRCm38) M116T probably damaging Het
Or8b44 A G 9: 38,498,911 (GRCm38) M81V possibly damaging Het
Or8g21 G T 9: 38,995,198 (GRCm38) P79Q probably damaging Het
Pak5 T C 2: 136,097,579 (GRCm38) I545M possibly damaging Het
Pcdhb15 T C 18: 37,475,895 (GRCm38) F727L probably benign Het
Pds5b T A 5: 150,723,353 (GRCm38) N202K possibly damaging Het
Phlpp1 T A 1: 106,392,934 (GRCm38) I1553N probably benign Het
Pink1 T C 4: 138,317,918 (GRCm38) T282A probably damaging Het
Pycr1 G A 11: 120,641,526 (GRCm38) probably benign Het
Rigi A G 4: 40,235,257 (GRCm38) Y78H probably benign Het
Skint9 A G 4: 112,414,001 (GRCm38) S71P probably damaging Het
Smad1 A G 8: 79,371,770 (GRCm38) probably benign Het
Snapc5 A T 9: 64,180,507 (GRCm38) E33D probably damaging Het
Snrnp40 T C 4: 130,362,650 (GRCm38) L56P probably damaging Het
Stab2 A C 10: 86,872,610 (GRCm38) I1697S probably damaging Het
Tfap2a G T 13: 40,717,412 (GRCm38) probably benign Het
Tph2 A G 10: 115,080,120 (GRCm38) probably benign Het
Triml1 A G 8: 43,141,040 (GRCm38) V118A probably benign Het
Ttbk2 T A 2: 120,750,242 (GRCm38) T538S probably benign Het
Ttn A G 2: 76,715,272 (GRCm38) V32569A possibly damaging Het
U2af1 T A 17: 31,648,192 (GRCm38) Y158F probably benign Het
Usp7 A T 16: 8,716,632 (GRCm38) probably benign Het
Vdr A G 15: 97,869,351 (GRCm38) S179P probably benign Het
Vps13d A C 4: 145,065,827 (GRCm38) S663A probably benign Het
Wdr62 T A 7: 30,241,462 (GRCm38) T844S possibly damaging Het
Wipi1 C T 11: 109,577,130 (GRCm38) R407Q probably damaging Het
Zbtb43 A G 2: 33,453,897 (GRCm38) C439R probably damaging Het
Zfp507 T A 7: 35,791,746 (GRCm38) H704L probably damaging Het
Zzef1 G A 11: 72,895,242 (GRCm38) R2080K probably damaging 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
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
R7976:Prdm2 UTSW 4 143,133,242 (GRCm38) nonsense probably null
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'- ATGCACTGATCTCATCGCTGGAC -3'
(R):5'- ACTGGTTGCTGCTGATGACCTG -3'

Sequencing Primer
(F):5'- aatgggcaacatcaacacag -3'
(R):5'- TGCTGATGACCTGCGCTC -3'
Posted On 2013-05-23