Incidental Mutation 'R0658:Prdm2'
ID 62605
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 038843-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0658 (G1)
Quality Score 176
Status Not validated
Chromosome 4
Chromosomal Location 143107391-143212995 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143135265 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 485 (V485A)
Ref Sequence ENSEMBL: ENSMUSP00000101404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778]
AlphaFold A2A7B5
Predicted Effect probably damaging
Transcript: ENSMUST00000105778
AA Change: V485A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: V485A

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 99% (78/79)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 C T 5: 100,817,961 (GRCm38) probably null Het
Acsl3 A G 1: 78,701,287 (GRCm38) D520G probably damaging Het
Adgrl3 T C 5: 81,648,713 (GRCm38) V623A probably benign Het
Ak9 G T 10: 41,347,222 (GRCm38) V454L probably damaging Het
Alpk2 C A 18: 65,349,487 (GRCm38) K483N probably damaging Het
Arhgef12 T C 9: 42,981,985 (GRCm38) Y974C probably damaging Het
Armc8 C T 9: 99,536,158 (GRCm38) probably benign Het
Atp2a2 C T 5: 122,457,633 (GRCm38) probably benign Het
Atrn T C 2: 130,970,227 (GRCm38) probably null Het
Caps2 T A 10: 112,204,038 (GRCm38) probably benign Het
Cep76 A G 18: 67,623,304 (GRCm38) S486P probably damaging Het
Cep97 C T 16: 55,914,902 (GRCm38) R583H probably benign Het
Cog7 A G 7: 121,956,140 (GRCm38) probably benign Het
Commd5 T A 15: 76,900,568 (GRCm38) V55E probably damaging Het
Csmd3 A T 15: 48,011,147 (GRCm38) D684E possibly damaging Het
Ctxn2 T C 2: 125,147,456 (GRCm38) M1T probably null Het
Exph5 A G 9: 53,377,475 (GRCm38) D1952G unknown Het
Fmo2 A T 1: 162,876,774 (GRCm38) L521Q possibly damaging Het
Fryl T A 5: 73,065,359 (GRCm38) T1960S probably damaging Het
G6pd2 T C 5: 61,809,674 (GRCm38) L264P probably damaging Het
Gm1966 C A 7: 106,602,886 (GRCm38) V384L possibly damaging Het
Gne A T 4: 44,039,033 (GRCm38) V647E possibly damaging Het
Grb14 G A 2: 64,914,727 (GRCm38) Q96* probably null Het
Gtf3c1 A G 7: 125,698,962 (GRCm38) F146L probably damaging Het
Irak2 A G 6: 113,638,564 (GRCm38) Y6C probably damaging Het
Kel T A 6: 41,703,031 (GRCm38) N75I probably damaging Het
Lgr4 T A 2: 110,011,787 (GRCm38) F706I possibly damaging Het
Lox A T 18: 52,528,883 (GRCm38) S149R probably benign Het
Lrrc66 T G 5: 73,610,944 (GRCm38) D218A probably benign Het
Luc7l C T 17: 26,266,322 (GRCm38) R99W probably damaging Het
Megf10 T C 18: 57,252,896 (GRCm38) V327A probably benign Het
Mthfd1l G T 10: 4,047,976 (GRCm38) probably null Het
Myh11 C A 16: 14,224,019 (GRCm38) Q720H probably damaging Het
Myh8 G T 11: 67,284,532 (GRCm38) probably null Het
Olfr1463 A T 19: 13,235,060 (GRCm38) D270V possibly damaging Het
Pdia3 G A 2: 121,432,377 (GRCm38) G275S probably damaging Het
Pgf C T 12: 85,169,385 (GRCm38) R153K probably benign Het
Pramef8 A T 4: 143,417,600 (GRCm38) Q172L probably damaging Het
Rag1 T C 2: 101,642,683 (GRCm38) T705A probably damaging Het
Rflna A C 5: 125,003,710 (GRCm38) D48A possibly damaging Het
Rnf148 A T 6: 23,654,457 (GRCm38) I180N probably damaging Het
Rtn4 T A 11: 29,706,475 (GRCm38) S94T probably damaging Het
Scn11a G A 9: 119,811,160 (GRCm38) T223I probably benign Het
Scube2 T A 7: 109,837,120 (GRCm38) probably benign Het
Sept14 T C 5: 129,697,908 (GRCm38) I68V probably benign Het
Sil1 A T 18: 35,266,857 (GRCm38) L365Q possibly damaging Het
Sirt1 A G 10: 63,321,736 (GRCm38) probably benign Het
Slc9a1 T C 4: 133,420,499 (GRCm38) probably benign Het
Smpdl3a A G 10: 57,811,240 (GRCm38) T355A probably damaging Het
Syne2 T C 12: 76,094,336 (GRCm38) I6074T probably damaging Het
Thbs2 T A 17: 14,680,325 (GRCm38) H540L probably benign Het
Tsc22d4 T C 5: 137,768,021 (GRCm38) S450P probably benign Het
Tshr C A 12: 91,538,226 (GRCm38) S54* probably null Het
Ubxn4 G A 1: 128,262,904 (GRCm38) E256K probably benign Het
Uncx G T 5: 139,544,187 (GRCm38) C65F probably damaging Het
Vmn1r87 A T 7: 13,131,829 (GRCm38) M177K probably damaging Het
Vmn2r56 A T 7: 12,710,308 (GRCm38) C466S probably benign Het
Wnk1 G A 6: 119,948,505 (GRCm38) P1831S probably damaging Het
Zfp820 T C 17: 21,818,920 (GRCm38) S476G 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
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'- GATATACACATCATCTGCGTCCCCG -3'
(R):5'- AAGAGAAGACCCAGCATGGCATTAC -3'

Sequencing Primer
(F):5'- GTCCTCCTCGGGCTCTG -3'
(R):5'- TGGCATTACAATCCTCAGAGGAC -3'
Posted On 2013-07-30