Incidental Mutation 'R6166:Prdm2'
ID 490135
Institutional Source Beutler Lab
Gene Symbol Prdm2
Ensembl Gene ENSMUSG00000057637
Gene Name PR domain containing 2, with ZNF domain
Synonyms KMT8, LOC381568, Riz, E330024L24Rik, 4833427P12Rik, Riz1
MMRRC Submission 044312-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6166 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 142833961-142939560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 142861306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 661 (S661R)
Ref Sequence ENSEMBL: ENSMUSP00000101404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778]
AlphaFold A2A7B5
Predicted Effect probably damaging
Transcript: ENSMUST00000105778
AA Change: S661R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: S661R

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 0.1936 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 97% (57/59)
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
Acot2 A T 12: 84,039,378 (GRCm39) N296Y probably damaging Het
Ago2 T A 15: 72,996,089 (GRCm39) I347L probably benign Het
Aldh1l2 C T 10: 83,329,288 (GRCm39) probably null Het
Ap1ar A G 3: 127,606,177 (GRCm39) probably null Het
Arap3 T C 18: 38,107,423 (GRCm39) T1365A probably damaging Het
Arhgef17 A T 7: 100,525,699 (GRCm39) H1966Q probably damaging Het
Arpp21 T C 9: 111,948,266 (GRCm39) T668A probably benign Het
Atg13 G T 2: 91,506,736 (GRCm39) Q479K probably damaging Het
Bmp8a T C 4: 123,218,471 (GRCm39) T183A probably benign Het
Camta2 G C 11: 70,565,087 (GRCm39) probably null Het
Catspere2 A G 1: 177,931,403 (GRCm39) T441A unknown Het
Ccdc40 T C 11: 119,122,827 (GRCm39) S210P probably benign Het
Cnn2 A G 10: 79,824,561 (GRCm39) E17G possibly damaging Het
Cnot6l T C 5: 96,227,799 (GRCm39) D478G possibly damaging Het
Cplane1 A G 15: 8,216,044 (GRCm39) H478R probably benign Het
Csf2rb A G 15: 78,228,766 (GRCm39) Y369C probably damaging Het
Dll4 A G 2: 119,165,107 (GRCm39) probably null Het
Efcab6 A G 15: 83,780,316 (GRCm39) V1039A probably benign Het
Fam117a T C 11: 95,271,607 (GRCm39) M393T possibly damaging Het
Fancd2 T A 6: 113,532,212 (GRCm39) N508K possibly damaging Het
Fat1 T C 8: 45,405,522 (GRCm39) S758P probably damaging Het
Fgf20 T C 8: 40,732,881 (GRCm39) K186E probably damaging Het
Filip1 T C 9: 79,726,736 (GRCm39) K628E probably damaging Het
Fsip2 G T 2: 82,811,071 (GRCm39) K2463N probably benign Het
Gm15446 T A 5: 110,090,646 (GRCm39) Y299* probably null Het
Gm7363 A T 7: 3,986,784 (GRCm39) noncoding transcript Het
Gpx5 A T 13: 21,473,435 (GRCm39) F104I probably damaging Het
Grip1 A T 10: 119,908,623 (GRCm39) I618F probably damaging Het
Hmcn2 G A 2: 31,259,274 (GRCm39) G1038D probably damaging Het
Lgals9 C T 11: 78,862,184 (GRCm39) A134T probably benign Het
Lrba G A 3: 86,261,614 (GRCm39) probably null Het
Lypd10 A T 7: 24,413,644 (GRCm39) Q220L probably benign Het
Naprt T C 15: 75,763,326 (GRCm39) Q439R possibly damaging Het
Ndufs6 G A 13: 73,466,060 (GRCm39) probably benign Het
Nodal C A 10: 61,260,337 (GRCm39) S329R probably damaging Het
Olfm3 T A 3: 114,916,074 (GRCm39) N315K probably damaging Het
Or4k2 C T 14: 50,424,225 (GRCm39) V150I probably benign Het
Or6c3b A T 10: 129,527,148 (GRCm39) I254K probably damaging Het
Or6k2 A G 1: 173,986,659 (GRCm39) T107A probably benign Het
Plg T A 17: 12,617,001 (GRCm39) V373E probably damaging Het
Psg21 A T 7: 18,390,664 (GRCm39) probably benign Het
Rhobtb2 T C 14: 70,035,627 (GRCm39) D148G probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Scaf11 A T 15: 96,322,543 (GRCm39) N116K probably damaging Het
Sf3a3 T C 4: 124,617,177 (GRCm39) probably benign Homo
Slc38a9 T G 13: 112,831,801 (GRCm39) Y184D possibly damaging Het
Sowahc A G 10: 59,058,182 (GRCm39) D106G probably benign Het
Srbd1 T C 17: 86,406,696 (GRCm39) Y563C probably damaging Het
Src A G 2: 157,310,442 (GRCm39) Y359C probably damaging Het
Tbc1d9b A G 11: 50,026,673 (GRCm39) D47G probably damaging Het
Tctn3 T C 19: 40,585,923 (GRCm39) K541E possibly damaging Het
Tgm7 A G 2: 120,929,539 (GRCm39) V245A probably damaging Het
Thbs2 C T 17: 14,900,650 (GRCm39) R519H probably damaging Het
Tm4sf19 T C 16: 32,226,681 (GRCm39) S157P probably damaging Het
Trio C T 15: 27,818,157 (GRCm39) S507N probably damaging Het
Trrap T A 5: 144,718,791 (GRCm39) H152Q possibly damaging Het
Vmn2r56 A G 7: 12,427,947 (GRCm39) L773P probably damaging Het
Vmn2r70 A G 7: 85,215,189 (GRCm39) L115P probably benign Het
Wdr59 C T 8: 112,199,293 (GRCm39) R631H probably damaging Het
Other mutations in Prdm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00530:Prdm2 APN 4 142,860,329 (GRCm39) missense probably damaging 0.99
IGL00843:Prdm2 APN 4 142,860,884 (GRCm39) missense probably damaging 1.00
IGL01419:Prdm2 APN 4 142,860,218 (GRCm39) missense probably damaging 0.99
IGL01662:Prdm2 APN 4 142,860,138 (GRCm39) missense possibly damaging 0.73
IGL01892:Prdm2 APN 4 142,860,974 (GRCm39) missense probably damaging 1.00
IGL02104:Prdm2 APN 4 142,859,997 (GRCm39) missense probably benign 0.01
IGL02208:Prdm2 APN 4 142,862,313 (GRCm39) missense probably benign 0.01
IGL02260:Prdm2 APN 4 142,861,157 (GRCm39) missense probably damaging 1.00
IGL02479:Prdm2 APN 4 142,861,499 (GRCm39) missense probably damaging 1.00
IGL02943:Prdm2 APN 4 142,858,542 (GRCm39) missense probably benign
IGL02972:Prdm2 APN 4 142,858,736 (GRCm39) missense probably benign
IGL03038:Prdm2 APN 4 142,860,571 (GRCm39) missense probably damaging 1.00
IGL03399:Prdm2 APN 4 142,861,658 (GRCm39) missense probably benign 0.07
G1patch:Prdm2 UTSW 4 142,859,471 (GRCm39) missense possibly damaging 0.96
PIT4677001:Prdm2 UTSW 4 142,861,648 (GRCm39) missense probably damaging 1.00
R0088:Prdm2 UTSW 4 142,861,524 (GRCm39) missense possibly damaging 0.86
R0153:Prdm2 UTSW 4 142,860,338 (GRCm39) missense possibly damaging 0.93
R0320:Prdm2 UTSW 4 142,905,921 (GRCm39) missense probably damaging 1.00
R0384:Prdm2 UTSW 4 142,862,258 (GRCm39) missense probably benign 0.01
R0400:Prdm2 UTSW 4 142,838,240 (GRCm39) missense probably benign
R0658:Prdm2 UTSW 4 142,861,835 (GRCm39) missense probably damaging 1.00
R0850:Prdm2 UTSW 4 142,858,773 (GRCm39) missense possibly damaging 0.53
R1118:Prdm2 UTSW 4 142,858,953 (GRCm39) missense possibly damaging 0.52
R1355:Prdm2 UTSW 4 142,858,533 (GRCm39) missense probably benign 0.33
R1519:Prdm2 UTSW 4 142,862,153 (GRCm39) missense probably damaging 1.00
R1936:Prdm2 UTSW 4 142,861,032 (GRCm39) missense probably benign 0.00
R1987:Prdm2 UTSW 4 142,859,079 (GRCm39) missense possibly damaging 0.73
R2006:Prdm2 UTSW 4 142,858,447 (GRCm39) missense possibly damaging 0.73
R2008:Prdm2 UTSW 4 142,861,517 (GRCm39) missense probably damaging 1.00
R2030:Prdm2 UTSW 4 142,859,334 (GRCm39) missense possibly damaging 0.53
R2112:Prdm2 UTSW 4 142,858,506 (GRCm39) missense probably benign
R2221:Prdm2 UTSW 4 142,861,469 (GRCm39) missense possibly damaging 0.58
R2223:Prdm2 UTSW 4 142,861,469 (GRCm39) missense possibly damaging 0.58
R2426:Prdm2 UTSW 4 142,838,320 (GRCm39) nonsense probably null
R2430:Prdm2 UTSW 4 142,859,733 (GRCm39) missense possibly damaging 0.73
R2484:Prdm2 UTSW 4 142,861,776 (GRCm39) missense probably damaging 1.00
R3735:Prdm2 UTSW 4 142,860,929 (GRCm39) missense probably damaging 1.00
R3944:Prdm2 UTSW 4 142,858,385 (GRCm39) missense possibly damaging 0.53
R4209:Prdm2 UTSW 4 142,861,007 (GRCm39) missense probably damaging 1.00
R4411:Prdm2 UTSW 4 142,860,240 (GRCm39) missense probably benign 0.18
R4647:Prdm2 UTSW 4 142,859,525 (GRCm39) missense possibly damaging 0.85
R4898:Prdm2 UTSW 4 142,860,761 (GRCm39) missense probably damaging 1.00
R5032:Prdm2 UTSW 4 142,905,937 (GRCm39) nonsense probably null
R5181:Prdm2 UTSW 4 142,861,536 (GRCm39) missense probably benign 0.35
R5513:Prdm2 UTSW 4 142,862,463 (GRCm39) small deletion probably benign
R5539:Prdm2 UTSW 4 142,859,264 (GRCm39) missense possibly damaging 0.53
R5563:Prdm2 UTSW 4 142,861,200 (GRCm39) missense probably benign 0.09
R5618:Prdm2 UTSW 4 142,860,107 (GRCm39) missense probably benign 0.00
R5900:Prdm2 UTSW 4 142,861,290 (GRCm39) missense probably damaging 1.00
R5990:Prdm2 UTSW 4 142,896,683 (GRCm39) missense probably damaging 1.00
R6148:Prdm2 UTSW 4 142,859,477 (GRCm39) missense probably benign 0.33
R6223:Prdm2 UTSW 4 142,868,777 (GRCm39) missense probably benign 0.41
R6530:Prdm2 UTSW 4 142,860,617 (GRCm39) missense probably benign 0.05
R6631:Prdm2 UTSW 4 142,861,454 (GRCm39) missense probably benign 0.05
R6725:Prdm2 UTSW 4 142,859,471 (GRCm39) missense possibly damaging 0.96
R6847:Prdm2 UTSW 4 142,859,520 (GRCm39) missense probably benign 0.18
R7193:Prdm2 UTSW 4 142,907,464 (GRCm39) missense probably damaging 1.00
R7238:Prdm2 UTSW 4 142,862,391 (GRCm39) missense probably benign 0.35
R7292:Prdm2 UTSW 4 142,859,471 (GRCm39) missense possibly damaging 0.96
R7417:Prdm2 UTSW 4 142,905,869 (GRCm39) missense probably damaging 1.00
R7748:Prdm2 UTSW 4 142,862,459 (GRCm39) missense possibly damaging 0.89
R7885:Prdm2 UTSW 4 142,861,140 (GRCm39) missense probably benign 0.41
R7936:Prdm2 UTSW 4 142,862,434 (GRCm39) missense probably damaging 0.99
R7976:Prdm2 UTSW 4 142,859,812 (GRCm39) nonsense probably null
R8124:Prdm2 UTSW 4 142,861,835 (GRCm39) missense probably damaging 1.00
R8150:Prdm2 UTSW 4 142,859,303 (GRCm39) missense possibly damaging 0.73
R8156:Prdm2 UTSW 4 142,861,338 (GRCm39) missense probably benign 0.01
R8178:Prdm2 UTSW 4 142,859,018 (GRCm39) missense probably benign 0.33
R8235:Prdm2 UTSW 4 142,859,037 (GRCm39) nonsense probably null
R8404:Prdm2 UTSW 4 142,861,584 (GRCm39) missense probably damaging 0.98
R8498:Prdm2 UTSW 4 142,907,467 (GRCm39) missense probably damaging 1.00
R8502:Prdm2 UTSW 4 142,861,584 (GRCm39) missense probably damaging 0.98
R8688:Prdm2 UTSW 4 142,838,310 (GRCm39) missense probably benign
R8732:Prdm2 UTSW 4 142,862,580 (GRCm39) missense probably benign 0.00
R8796:Prdm2 UTSW 4 142,860,017 (GRCm39) missense probably benign 0.33
R8874:Prdm2 UTSW 4 142,859,785 (GRCm39) missense possibly damaging 0.70
R8887:Prdm2 UTSW 4 142,860,771 (GRCm39) missense probably damaging 1.00
R9119:Prdm2 UTSW 4 142,858,449 (GRCm39) nonsense probably null
R9139:Prdm2 UTSW 4 142,858,752 (GRCm39) missense probably benign 0.03
R9165:Prdm2 UTSW 4 142,858,674 (GRCm39) missense possibly damaging 0.73
R9342:Prdm2 UTSW 4 142,861,478 (GRCm39) missense probably damaging 1.00
R9518:Prdm2 UTSW 4 142,860,579 (GRCm39) missense possibly damaging 0.94
R9546:Prdm2 UTSW 4 142,861,561 (GRCm39) missense probably damaging 1.00
R9547:Prdm2 UTSW 4 142,861,561 (GRCm39) missense probably damaging 1.00
R9680:Prdm2 UTSW 4 142,859,079 (GRCm39) missense possibly damaging 0.73
R9730:Prdm2 UTSW 4 142,858,659 (GRCm39) missense possibly damaging 0.73
X0017:Prdm2 UTSW 4 142,861,277 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTCACAGCTAACATGGATGCAG -3'
(R):5'- GCATAGACTGTCTGCTCACTCC -3'

Sequencing Primer
(F):5'- CAGGAGCAGATACACACACGG -3'
(R):5'- TGCTCACTCCAGTAACTGTAGAG -3'
Posted On 2017-10-10