Incidental Mutation 'R5539:Prdm2'
ID 435816
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 043097-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5539 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 142833961-142939560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142859264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1342 (H1342R)
Ref Sequence ENSEMBL: ENSMUSP00000101404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778]
AlphaFold A2A7B5
Predicted Effect possibly damaging
Transcript: ENSMUST00000105778
AA Change: H1342R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: H1342R

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A T 16: 88,555,917 (GRCm39) S44C probably damaging Het
Abca4 A G 3: 121,963,557 (GRCm39) I846V probably damaging Het
Aldh4a1 T C 4: 139,365,833 (GRCm39) S275P probably benign Het
Arhgap12 A T 18: 6,111,932 (GRCm39) L144H probably benign Het
Ccdc141 A T 2: 76,845,437 (GRCm39) I1210N probably damaging Het
Ccdc175 T C 12: 72,191,587 (GRCm39) T330A probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dnah17 T C 11: 117,964,486 (GRCm39) K2444E probably benign Het
Dnajc3 G A 14: 119,208,159 (GRCm39) V265M probably damaging Het
Flg2 T A 3: 93,127,753 (GRCm39) Y2222N unknown Het
Flnc G T 6: 29,446,229 (GRCm39) G882V probably damaging Het
Fndc5 T A 4: 129,032,514 (GRCm39) V39D probably damaging Het
Gabrr3 A T 16: 59,281,758 (GRCm39) H371L probably benign Het
Gm10717 A T 9: 3,030,438 (GRCm39) H33L probably damaging Het
Gm5422 A G 10: 31,124,646 (GRCm39) noncoding transcript Het
Kri1 G A 9: 21,190,668 (GRCm39) Q280* probably null Het
Lcp1 T C 14: 75,466,738 (GRCm39) V615A probably benign Het
Ltbp4 T C 7: 27,027,149 (GRCm39) Y407C probably damaging Het
Med30 G T 15: 52,584,462 (GRCm39) D127Y probably damaging Het
Mybpc2 A G 7: 44,164,317 (GRCm39) V416A probably benign Het
Notch2 C T 3: 98,044,898 (GRCm39) R1607C probably damaging Het
Nr4a3 T A 4: 48,056,525 (GRCm39) probably null Het
Ntf5 G T 7: 45,065,354 (GRCm39) R162L probably benign Het
Nxpe3 A G 16: 55,711,034 (GRCm39) W2R possibly damaging Het
Or10d1c T C 9: 38,893,573 (GRCm39) I256V possibly damaging Het
Or14j4 T A 17: 37,921,646 (GRCm39) M1L probably benign Het
Or1m1 G A 9: 18,666,134 (GRCm39) R266C probably damaging Het
Or5p58 A T 7: 107,694,433 (GRCm39) C115S probably benign Het
Pan2 C A 10: 128,144,002 (GRCm39) D99E probably benign Het
Pcdh12 T C 18: 38,414,797 (GRCm39) H776R possibly damaging Het
Prpf8 A G 11: 75,394,464 (GRCm39) T1800A probably benign Het
Prss40 T C 1: 34,591,760 (GRCm39) *148W probably null Het
Pygo1 C T 9: 72,852,061 (GRCm39) P83S probably damaging Het
Raf1 G T 6: 115,596,317 (GRCm39) S619R probably damaging Het
Rtf1 A G 2: 119,560,405 (GRCm39) M596V possibly damaging Het
Slc12a5 T A 2: 164,829,126 (GRCm39) D578E possibly damaging Het
Slc35b4 A G 6: 34,153,737 (GRCm39) V18A probably damaging Het
Spata31 T A 13: 65,070,783 (GRCm39) I977K probably benign Het
Tor2a T C 2: 32,650,672 (GRCm39) I222T probably damaging Het
Trim23 T C 13: 104,334,541 (GRCm39) V347A probably damaging Het
Trip11 A G 12: 101,851,386 (GRCm39) S893P probably damaging Het
Trmt10c G A 16: 55,855,324 (GRCm39) P104S probably damaging Het
Ubr3 A T 2: 69,850,877 (GRCm39) Y1765F probably damaging Het
Zfp951 C T 5: 104,962,712 (GRCm39) E285K 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
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'- GATCGCTTTCTGTACCAGCTG -3'
(R):5'- TACCCGAGCTTTAAGCCAC -3'

Sequencing Primer
(F):5'- GGAGACATTTTGCTGAGTTCAAC -3'
(R):5'- GAGCTTTAAGCCACCTCCATTTCAG -3'
Posted On 2016-10-24