Incidental Mutation 'R6631:Prdm2'
ID 525108
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 044753-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6631 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 143107391-143212995 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 143134884 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 612 (Q612P)
Ref Sequence ENSEMBL: ENSMUSP00000101404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778]
AlphaFold A2A7B5
Predicted Effect probably benign
Transcript: ENSMUST00000105778
AA Change: Q612P

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: Q612P

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 0.1476 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 96% (50/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik A T 9: 15,292,030 (GRCm38) N159K probably damaging Het
Arhgef10l T C 4: 140,517,747 (GRCm38) probably benign Het
Avil A G 10: 127,007,749 (GRCm38) S153G possibly damaging Het
C2cd3 G A 7: 100,418,540 (GRCm38) D877N probably damaging Het
Clca3a2 G A 3: 144,813,644 (GRCm38) A257V probably benign Het
Cramp1l T A 17: 24,983,957 (GRCm38) H366L probably benign Het
Cyp2c37 C T 19: 40,009,843 (GRCm38) S393L probably damaging Het
Defb8 T A 8: 19,445,934 (GRCm38) I37L probably benign Het
Dennd4b C A 3: 90,277,732 (GRCm38) probably null Het
Eps8l2 G A 7: 141,356,202 (GRCm38) R223H probably damaging Het
Erbin A G 13: 103,824,892 (GRCm38) L1302P probably benign Het
Exoc3l A G 8: 105,295,361 (GRCm38) W37R probably damaging Het
Fam214a A G 9: 74,953,825 (GRCm38) D4G possibly damaging Het
Fap T C 2: 62,503,381 (GRCm38) N668S probably damaging Het
Gas7 A G 11: 67,674,281 (GRCm38) N250S probably damaging Het
Hist1h2bk T A 13: 22,036,221 (GRCm38) V112E probably damaging Het
Hivep1 C A 13: 42,156,480 (GRCm38) P732Q probably damaging Het
Irx4 G T 13: 73,268,426 (GRCm38) A314S probably benign Het
Itgb8 A T 12: 119,180,977 (GRCm38) L332* probably null Het
Kctd19 A G 8: 105,385,328 (GRCm38) probably null Het
Kif14 G A 1: 136,515,959 (GRCm38) S1290N probably benign Het
Klk1b3 C T 7: 44,201,464 (GRCm38) T140I probably benign Het
Lama1 A G 17: 67,774,482 (GRCm38) N1305D probably benign Het
Lrp1 A T 10: 127,574,332 (GRCm38) V1515E probably damaging Het
Man2b1 A G 8: 85,086,811 (GRCm38) probably null Het
Mocos A G 18: 24,699,931 (GRCm38) T818A probably benign Het
Mpc2 G T 1: 165,479,512 (GRCm38) W94L probably benign Het
Mrc1 G A 2: 14,238,485 (GRCm38) V141I probably benign Het
Nalcn T C 14: 123,460,251 (GRCm38) T538A probably benign Het
Ndufs3 G A 2: 90,902,400 (GRCm38) T114M probably damaging Het
Noct T C 3: 51,250,200 (GRCm38) C320R probably damaging Het
Olfr1472 T A 19: 13,453,821 (GRCm38) Q232L probably benign Het
Pcdha11 G T 18: 37,005,791 (GRCm38) A158S probably damaging Het
Pcdhga8 T A 18: 37,727,056 (GRCm38) D388E probably benign Het
Peg3 T C 7: 6,709,070 (GRCm38) E1051G possibly damaging Het
Phlda2 T A 7: 143,502,181 (GRCm38) I104F probably damaging Het
Polr2a A G 11: 69,735,513 (GRCm38) S1604P possibly damaging Het
Pomt2 C T 12: 87,139,643 (GRCm38) probably null Het
Ppp6r2 G A 15: 89,253,255 (GRCm38) probably null Het
Prr5 C A 15: 84,702,777 (GRCm38) R243S probably damaging Het
Ptgdr2 T C 19: 10,940,869 (GRCm38) I250T probably benign Het
Rad54l2 A T 9: 106,713,540 (GRCm38) C462* probably null Het
Sec16a T A 2: 26,439,957 (GRCm38) E682V probably damaging Het
Serpina3i A G 12: 104,266,466 (GRCm38) D210G probably damaging Het
Slain2 T A 5: 72,957,405 (GRCm38) D326E probably benign Het
Sned1 A G 1: 93,281,652 (GRCm38) E829G probably damaging Het
Steap4 G A 5: 7,976,995 (GRCm38) W319* probably null Het
Taar8c A G 10: 24,101,803 (GRCm38) V37A probably benign Het
Tdrd12 T A 7: 35,485,229 (GRCm38) Y753F probably damaging Het
Tnxb A G 17: 34,718,248 (GRCm38) S3770G probably damaging Het
Trrap A G 5: 144,771,650 (GRCm38) N48S possibly damaging Het
Zfp558 C A 9: 18,456,923 (GRCm38) G190* probably null 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
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'- TGTTGATATGCTCAGAGGCAG -3'
(R):5'- TGTCTATGTACCAAGCACAGAG -3'

Sequencing Primer
(F):5'- TTGATATGCTCAGAGGCAGACTTAAG -3'
(R):5'- CGCAGATGATGTGTATATCATGGAC -3'
Posted On 2018-06-22