Incidental Mutation 'R2484:Prdm2'
ID 250796
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 040408-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2484 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 142833961-142939560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 142861776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 505 (I505F)
Ref Sequence ENSEMBL: ENSMUSP00000101404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778]
AlphaFold A2A7B5
Predicted Effect probably damaging
Transcript: ENSMUST00000105778
AA Change: I505F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: I505F

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 0.1280 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (72/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik G A 2: 68,541,819 (GRCm39) D46N possibly damaging Het
A830018L16Rik G T 1: 11,666,526 (GRCm39) A278S probably damaging Het
Acsbg3 A G 17: 57,189,641 (GRCm39) N252S probably benign Het
Adarb2 A T 13: 8,619,810 (GRCm39) K99* probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atxn1l A G 8: 110,458,883 (GRCm39) S460P probably damaging Het
Bicra T A 7: 15,722,605 (GRCm39) N304I possibly damaging Het
Capn10 A T 1: 92,872,565 (GRCm39) D470V probably damaging Het
Chchd3 A G 6: 32,780,950 (GRCm39) Y184H possibly damaging Het
Col6a6 T C 9: 105,658,003 (GRCm39) I736M probably damaging Het
Dhx36 T A 3: 62,380,236 (GRCm39) N820I probably damaging Het
Drd4 C T 7: 140,874,649 (GRCm39) P347S probably benign Het
Ephx1 A T 1: 180,817,537 (GRCm39) V378D probably damaging Het
Extl3 A T 14: 65,313,184 (GRCm39) V666E probably damaging Het
Fam20c G C 5: 138,794,872 (GRCm39) R500S probably benign Het
Glod4 A T 11: 76,130,344 (GRCm39) D42E probably damaging Het
Golga2 T C 2: 32,194,782 (GRCm39) I643T probably benign Het
Hnf1b A T 11: 83,752,661 (GRCm39) T73S probably benign Het
Hydin A G 8: 111,239,747 (GRCm39) Y2009C possibly damaging Het
Ido2 A G 8: 25,023,831 (GRCm39) C336R probably damaging Het
Ifngr1 T C 10: 19,477,163 (GRCm39) V108A probably damaging Het
Igbp1b A T 6: 138,634,492 (GRCm39) N317K probably benign Het
Ints14 A G 9: 64,893,366 (GRCm39) S511G probably benign Het
Itpr1 T C 6: 108,346,071 (GRCm39) S125P probably damaging Het
Jag1 T C 2: 136,926,620 (GRCm39) T975A possibly damaging Het
Klra17 A G 6: 129,845,720 (GRCm39) W165R probably damaging Het
Leo1 T A 9: 75,352,755 (GRCm39) N99K possibly damaging Het
Lonp1 C A 17: 56,921,659 (GRCm39) G883C probably damaging Het
Lpin1 C A 12: 16,597,500 (GRCm39) G682W probably damaging Het
Macf1 A C 4: 123,367,465 (GRCm39) L2432R probably damaging Het
Med12l T G 3: 59,205,259 (GRCm39) I2075M probably benign Het
Mroh6 A G 15: 75,756,177 (GRCm39) S660P probably benign Het
Myh6 G T 14: 55,198,699 (GRCm39) Y309* probably null Het
Myof C T 19: 37,892,291 (GRCm39) R1154H probably benign Het
Myrip G A 9: 120,253,685 (GRCm39) E253K probably benign Het
Ndst3 T C 3: 123,346,186 (GRCm39) D281G possibly damaging Het
Nipbl T C 15: 8,353,182 (GRCm39) K1788R probably damaging Het
Nol12 A G 15: 78,824,717 (GRCm39) probably benign Het
Nptn A G 9: 58,550,956 (GRCm39) T212A possibly damaging Het
Nptx2 C T 5: 144,493,155 (GRCm39) A414V probably damaging Het
Nub1 A G 5: 24,913,700 (GRCm39) D503G possibly damaging Het
Obscn T A 11: 58,898,366 (GRCm39) probably benign Het
Or4a80 A G 2: 89,582,578 (GRCm39) I198T probably benign Het
Or51q1 A G 7: 103,628,545 (GRCm39) T49A probably benign Het
Or5b97 C T 19: 12,879,005 (GRCm39) M46I probably benign Het
Pcnx2 T C 8: 126,617,859 (GRCm39) E132G probably damaging Het
Pkdcc A G 17: 83,529,667 (GRCm39) probably benign Het
Psmc3 C G 2: 90,886,346 (GRCm39) Q169E probably damaging Het
Ptger4 A T 15: 5,264,654 (GRCm39) I334N probably benign Het
Ptrh1 T C 2: 32,667,183 (GRCm39) M161T probably benign Het
Rapgef6 T A 11: 54,533,582 (GRCm39) V482D possibly damaging Het
Rdh16f2 T C 10: 127,710,946 (GRCm39) S188P probably damaging Het
Rrh T C 3: 129,616,040 (GRCm39) Y31C probably damaging Het
Selp G T 1: 163,971,523 (GRCm39) W659L probably benign Het
Selp G T 1: 163,971,524 (GRCm39) W659C probably damaging Het
Shh A G 5: 28,671,740 (GRCm39) C8R probably benign Het
Spdye4b C A 5: 143,187,848 (GRCm39) S167R possibly damaging Het
Strip1 T C 3: 107,535,537 (GRCm39) Y62C possibly damaging Het
Sucla2 A T 14: 73,819,149 (GRCm39) I232F probably benign Het
Sugp1 A G 8: 70,522,174 (GRCm39) D437G possibly damaging Het
Taf1a A G 1: 183,177,422 (GRCm39) probably benign Het
Tbc1d20 T A 2: 152,153,283 (GRCm39) M271K probably damaging Het
Tecpr2 T C 12: 110,899,752 (GRCm39) S707P probably benign Het
Tert G A 13: 73,796,104 (GRCm39) R1017H probably benign Het
Tox C G 4: 6,688,886 (GRCm39) V493L probably damaging Het
Tpo C T 12: 30,153,968 (GRCm39) A246T probably benign Het
Traf7 A T 17: 24,730,613 (GRCm39) V358D probably damaging Het
Trim56 C T 5: 137,141,528 (GRCm39) V663M possibly damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Usf3 C T 16: 44,041,045 (GRCm39) H1842Y probably damaging Het
Uvrag T C 7: 98,537,668 (GRCm39) E509G probably benign Het
Vmn2r5 T C 3: 64,411,392 (GRCm39) D305G possibly damaging Het
Vmn2r52 T C 7: 9,903,058 (GRCm39) R457G probably damaging Het
Vti1a A C 19: 55,369,411 (GRCm39) N101T possibly damaging Het
Zfp236 A G 18: 82,686,762 (GRCm39) F259L probably benign 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
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
R6166:Prdm2 UTSW 4 142,861,306 (GRCm39) missense probably damaging 0.99
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'- TGTTGTTGGTCTGAATCTTACCATC -3'
(R):5'- TGAGTCGAGTCCACCTCAAC -3'

Sequencing Primer
(F):5'- CTCTGTGCTTGGTACATAGA -3'
(R):5'- CCTCAACTTGGGCAAGACTGTTTG -3'
Posted On 2014-12-04