Incidental Mutation 'R9680:Prdm2'
ID 728469
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9680 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 142833961-142939560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142859079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1404 (S1404P)
Ref Sequence ENSEMBL: ENSMUSP00000101404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778]
AlphaFold A2A7B5
Predicted Effect possibly damaging
Transcript: ENSMUST00000105778
AA Change: S1404P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: S1404P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,208,239 (GRCm39) Y502N probably damaging Het
Adam6a T A 12: 113,509,484 (GRCm39) L619* probably null Het
Akap9 A T 5: 4,011,587 (GRCm39) R763S probably benign Het
Akt3 G A 1: 176,958,639 (GRCm39) P24S probably damaging Het
Ano2 A T 6: 125,857,382 (GRCm39) probably null Het
B4galnt4 G A 7: 140,647,957 (GRCm39) R491Q possibly damaging Het
Bahcc1 A G 11: 120,163,286 (GRCm39) D528G possibly damaging Het
Camk1g G T 1: 193,030,483 (GRCm39) Q409K probably benign Het
Cdh3 T A 8: 107,274,396 (GRCm39) N638K probably benign Het
Cgnl1 T A 9: 71,562,632 (GRCm39) E882D possibly damaging Het
Cplane1 A G 15: 8,231,785 (GRCm39) N1077S possibly damaging Het
Cpxm2 C T 7: 131,661,651 (GRCm39) E379K probably damaging Het
Cyp3a16 A G 5: 145,389,690 (GRCm39) L225P probably damaging Het
Dchs1 T C 7: 105,411,625 (GRCm39) E1497G probably damaging Het
Denr T A 5: 124,065,117 (GRCm39) S157T possibly damaging Het
Disp3 A G 4: 148,356,101 (GRCm39) I253T probably damaging Het
Dlgap2 C T 8: 14,896,653 (GRCm39) T1043M probably damaging Het
Epb41l5 T C 1: 119,535,804 (GRCm39) T355A probably damaging Het
Etv6 G A 6: 134,013,062 (GRCm39) probably benign Het
Fbn1 T C 2: 125,310,484 (GRCm39) I141V probably benign Het
Fsip2 T G 2: 82,819,272 (GRCm39) S5002A probably benign Het
Gbf1 T G 19: 46,271,837 (GRCm39) V1576G probably damaging Het
Gmfg T A 7: 28,140,733 (GRCm39) probably null Het
Gsdmc4 T C 15: 63,774,706 (GRCm39) E25G possibly damaging Het
Igkv6-23 A T 6: 70,237,884 (GRCm39) L12M possibly damaging Het
Kank1 G A 19: 25,388,138 (GRCm39) V604M probably damaging Het
Kctd1 A G 18: 15,140,822 (GRCm39) V40A probably damaging Het
Krt222 T C 11: 99,127,065 (GRCm39) K185R possibly damaging Het
Ldc1 A G 4: 130,115,527 (GRCm39) V7A probably benign Het
Lipm T C 19: 34,089,494 (GRCm39) F151L probably damaging Het
Lrrc2 A T 9: 110,791,710 (GRCm39) N154I probably damaging Het
Map1a T A 2: 121,132,865 (GRCm39) M1227K probably damaging Het
Med1 T C 11: 98,071,114 (GRCm39) T78A probably damaging Het
Mrm1 A G 11: 84,710,144 (GRCm39) S19P possibly damaging Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nap1l1 A G 10: 111,330,657 (GRCm39) Y354C probably damaging Het
Npr1 A G 3: 90,368,448 (GRCm39) V474A probably benign Het
Nyap1 A T 5: 137,733,840 (GRCm39) S398T probably damaging Het
Obox7 C T 7: 14,398,067 (GRCm39) Q36* probably null Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Or6c8 A T 10: 128,915,358 (GRCm39) I158N probably benign Het
P3h1 T A 4: 119,090,428 (GRCm39) L92H probably benign Het
Pappa2 T C 1: 158,609,818 (GRCm39) T1548A possibly damaging Het
Pnisr A G 4: 21,873,586 (GRCm39) E443G probably damaging Het
Prom1 A T 5: 44,190,284 (GRCm39) probably null Het
Rbm27 A T 18: 42,455,186 (GRCm39) Q646H probably damaging Het
Scamp3 C T 3: 89,087,561 (GRCm39) R134* probably null Het
Scrt2 T C 2: 151,924,018 (GRCm39) C17R probably benign Het
Setbp1 A G 18: 78,902,498 (GRCm39) S390P probably benign Het
Shank2 A T 7: 143,964,837 (GRCm39) D815V probably damaging Het
Sirt7 G A 11: 120,511,296 (GRCm39) T285M Het
Sis T G 3: 72,863,621 (GRCm39) S206R probably benign Het
Slc24a4 T G 12: 102,193,334 (GRCm39) D206E possibly damaging Het
Slc26a4 C A 12: 31,585,292 (GRCm39) G501C probably damaging Het
Sptb T C 12: 76,677,489 (GRCm39) N115S probably damaging Het
Srprb T C 9: 103,074,807 (GRCm39) T112A possibly damaging Het
Tbk1 G T 10: 121,389,841 (GRCm39) A537E probably benign Het
Tbx19 T A 1: 164,970,067 (GRCm39) H274L probably damaging Het
Tmem130 A G 5: 144,674,233 (GRCm39) S394P probably damaging Het
Tmem40 A G 6: 115,718,517 (GRCm39) S104P possibly damaging Het
Tmprss2 T A 16: 97,379,826 (GRCm39) Q158L probably damaging Het
Tnip1 A T 11: 54,828,876 (GRCm39) V97D possibly damaging Het
Tpr T A 1: 150,314,887 (GRCm39) S1985T probably benign Het
Traf7 CA CAA 17: 24,746,737 (GRCm39) probably benign Het
Trio G T 15: 27,744,158 (GRCm39) N2591K possibly damaging Het
Ushbp1 A T 8: 71,838,573 (GRCm39) C618S possibly damaging Het
Usp34 A G 11: 23,317,385 (GRCm39) S834G possibly damaging Het
Vmn2r103 C A 17: 20,019,525 (GRCm39) C536* probably null Het
Vmn2r124 T A 17: 18,293,758 (GRCm39) V615D probably damaging Het
Zbtb38 G A 9: 96,570,397 (GRCm39) T229I probably benign Het
Zfhx4 T A 3: 5,465,656 (GRCm39) V1963E probably damaging Het
Zfp142 G A 1: 74,610,933 (GRCm39) T954M probably benign Het
Zgrf1 A G 3: 127,409,216 (GRCm39) Y1730C 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
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
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
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'- TATTCAGGCTGCCGATGTAC -3'
(R):5'- TGGCAAGAGTGTTGATAACATGC -3'

Sequencing Primer
(F):5'- TGCCGATGTACGTGAACTC -3'
(R):5'- TGATAACATGCCTGAGCTGC -3'
Posted On 2022-10-06