Incidental Mutation 'R2221:Prdm2'
ID 241480
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 040223-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2221 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 143107391-143212995 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143134899 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 607 (N607S)
Ref Sequence ENSEMBL: ENSMUSP00000101404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778]
AlphaFold A2A7B5
Predicted Effect possibly damaging
Transcript: ENSMUST00000105778
AA Change: N607S

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: N607S

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 0.1825 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (58/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A T 7: 131,247,457 (GRCm38) probably null Het
Adamtsl1 A C 4: 86,388,525 (GRCm38) D1392A probably benign Het
Afdn T C 17: 13,883,737 (GRCm38) probably benign Het
Aph1b A T 9: 66,784,639 (GRCm38) M121K probably damaging Het
Aspg G A 12: 112,114,434 (GRCm38) A120T probably damaging Het
Bicd1 A G 6: 149,517,005 (GRCm38) T725A probably damaging Het
Cd1d2 A T 3: 86,988,540 (GRCm38) I292F probably damaging Het
Cdk13 A G 13: 17,719,535 (GRCm38) V495A probably damaging Het
Cfd A T 10: 79,892,205 (GRCm38) probably null Het
Col9a2 C G 4: 121,054,258 (GRCm38) R599G probably damaging Het
Cradd A C 10: 95,175,873 (GRCm38) V135G probably benign Het
Cry1 A G 10: 85,143,753 (GRCm38) C460R probably damaging Het
Ctu2 A G 8: 122,480,910 (GRCm38) E375G probably damaging Het
Dym T G 18: 75,230,165 (GRCm38) I580S probably damaging Het
Eif3e A G 15: 43,251,547 (GRCm38) L411P possibly damaging Het
Emsy T C 7: 98,590,775 (GRCm38) E1091G possibly damaging Het
Enkur A G 2: 21,189,319 (GRCm38) probably benign Het
Fam184a G A 10: 53,655,079 (GRCm38) T733M probably damaging Het
Frem2 G A 3: 53,516,857 (GRCm38) A3053V probably benign Het
Gbgt1 T C 2: 28,498,423 (GRCm38) L40P probably damaging Het
Gm5174 T A 10: 86,656,508 (GRCm38) noncoding transcript Het
Gys2 G T 6: 142,456,422 (GRCm38) D230E probably damaging Het
Herc2 T A 7: 56,169,018 (GRCm38) probably null Het
Hps3 A T 3: 20,002,363 (GRCm38) S815R probably benign Het
Igf1r C A 7: 68,201,962 (GRCm38) S983R probably damaging Het
Itsn1 T A 16: 91,853,768 (GRCm38) probably benign Het
Kcnc2 A G 10: 112,456,526 (GRCm38) N91D probably damaging Het
Kif28 C A 1: 179,733,111 (GRCm38) A210S possibly damaging Het
Klri2 T A 6: 129,740,309 (GRCm38) Q37L probably damaging Het
Lrrc38 T A 4: 143,369,849 (GRCm38) C243* probably null Het
Map3k5 T C 10: 20,067,920 (GRCm38) V590A possibly damaging Het
Mdn1 C A 4: 32,763,306 (GRCm38) F5135L probably benign Het
Megf11 G A 9: 64,660,431 (GRCm38) G401S possibly damaging Het
Mst1r T C 9: 107,908,348 (GRCm38) F402L probably damaging Het
Ntrk3 T C 7: 78,198,852 (GRCm38) I759V probably damaging Het
Nup188 T C 2: 30,336,924 (GRCm38) probably benign Het
Olfr1243 C T 2: 89,527,937 (GRCm38) V158I probably benign Het
Olfr870 T C 9: 20,171,092 (GRCm38) S160G possibly damaging Het
Prl2a1 T A 13: 27,806,386 (GRCm38) probably null Het
Serpina9 T A 12: 103,998,264 (GRCm38) I305F probably damaging Het
Setx GTGGCT GT 2: 29,154,061 (GRCm38) 1814 probably null Het
Slc19a1 C T 10: 77,042,486 (GRCm38) T285I probably benign Het
Snap91 T C 9: 86,792,527 (GRCm38) T544A possibly damaging Het
Srgap3 A G 6: 112,946,493 (GRCm38) S2P probably damaging Het
Tcof1 A G 18: 60,837,901 (GRCm38) V210A possibly damaging Het
Tex261 A G 6: 83,771,515 (GRCm38) I136T probably benign Het
Trpa1 A T 1: 14,903,256 (GRCm38) F279L probably null Het
Ttc39b T C 4: 83,232,762 (GRCm38) N532S probably benign Het
Ttn T C 2: 76,742,094 (GRCm38) T26152A probably damaging Het
Ube2w A G 1: 16,597,959 (GRCm38) S97P possibly damaging Het
Vmn1r25 A C 6: 57,979,238 (GRCm38) L22R probably damaging Het
Vmn1r64 T C 7: 5,884,449 (GRCm38) I32V probably benign Het
Vmn2r112 T G 17: 22,601,233 (GRCm38) M29R possibly damaging Het
Vmn2r71 T A 7: 85,624,093 (GRCm38) M705K probably benign Het
Vps13b G A 15: 35,884,597 (GRCm38) V3139I probably benign Het
Zfp628 T C 7: 4,920,831 (GRCm38) V684A 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
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'- GCTCAGAGGCAGACTTAAGG -3'
(R):5'- TCTATGTACCAAGCACAGAGC -3'

Sequencing Primer
(F):5'- CTCAGAGGCAGACTTAAGGAACAC -3'
(R):5'- CGCAGATGATGTGTATATCATGGAC -3'
Posted On 2014-10-15