Incidental Mutation 'R2030:Prdm2'
ID 221118
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 040037-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2030 (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 143132764 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1319 (T1319A)
Ref Sequence ENSEMBL: ENSMUSP00000101404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778]
AlphaFold A2A7B5
Predicted Effect possibly damaging
Transcript: ENSMUST00000105778
AA Change: T1319A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: T1319A

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 0.3350 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (54/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik C T 4: 42,974,131 (GRCm38) Q1155* probably null Het
Adtrp C T 13: 41,828,259 (GRCm38) V13I probably damaging Het
Ak2 A G 4: 129,008,220 (GRCm38) K229E probably benign Het
Atp13a4 A T 16: 29,422,684 (GRCm38) V741D probably damaging Het
Bdp1 A T 13: 100,061,189 (GRCm38) M896K probably benign Het
Ccser1 C T 6: 61,311,563 (GRCm38) R237C probably benign Het
Cdk7 A G 13: 100,722,674 (GRCm38) probably benign Het
CK137956 A G 4: 127,951,387 (GRCm38) S188P probably benign Het
Dab1 C T 4: 104,731,751 (GRCm38) A524V probably benign Het
Dbndd2 A G 2: 164,488,643 (GRCm38) D72G probably damaging Het
Disp3 A T 4: 148,259,966 (GRCm38) I493N probably damaging Het
Epx T C 11: 87,864,824 (GRCm38) D678G probably damaging Het
Fbxw5 G T 2: 25,504,798 (GRCm38) V235L probably damaging Het
Fmo4 T A 1: 162,794,172 (GRCm38) D490V probably damaging Het
Fuca2 A G 10: 13,506,774 (GRCm38) Y268C probably damaging Het
Gm4787 C T 12: 81,378,770 (GRCm38) V205I probably damaging Het
Gpat3 G A 5: 100,897,821 (GRCm38) R437K probably benign Het
Herc2 A G 7: 56,184,373 (GRCm38) S3109G probably damaging Het
Hr G A 14: 70,571,448 (GRCm38) R1117H probably damaging Het
Htra4 T A 8: 25,033,577 (GRCm38) D324V probably damaging Het
Kcnd3 A G 3: 105,459,537 (GRCm38) Y241C probably damaging Het
Kcp G A 6: 29,489,072 (GRCm38) L1072F probably damaging Het
Lrrc52 T C 1: 167,466,459 (GRCm38) N86D probably benign Het
Mindy4 A G 6: 55,211,262 (GRCm38) T26A probably damaging Het
Mre11a A T 9: 14,795,805 (GRCm38) N117Y probably damaging Het
Mrgprb1 A T 7: 48,447,328 (GRCm38) S279T possibly damaging Het
Myh13 T G 11: 67,350,238 (GRCm38) S814A probably benign Het
Ncapd2 A G 6: 125,176,715 (GRCm38) V679A possibly damaging Het
Nipbl A T 15: 8,350,287 (GRCm38) V1007D probably damaging Het
Nlrp12 T A 7: 3,228,417 (GRCm38) H960L probably damaging Het
Olfr1245 C T 2: 89,575,214 (GRCm38) V171I probably benign Het
Olfr402 T A 11: 74,155,943 (GRCm38) M263K possibly damaging Het
Olfr860 A G 9: 19,846,413 (GRCm38) S69P probably benign Het
Pklr A G 3: 89,143,238 (GRCm38) Y402C probably damaging Het
Rif1 T A 2: 52,092,346 (GRCm38) V541E probably damaging Het
Ryk T A 9: 102,881,656 (GRCm38) I248N possibly damaging Het
Shisa2 A T 14: 59,629,685 (GRCm38) I129F probably damaging Het
Snap25 T G 2: 136,770,053 (GRCm38) probably benign Het
Snx31 G A 15: 36,525,702 (GRCm38) P284S probably benign Het
Tas2r137 A G 6: 40,492,220 (GRCm38) K328R possibly damaging Het
Tas2r140 T C 6: 133,055,250 (GRCm38) T182A probably benign Het
Thumpd2 G A 17: 81,064,958 (GRCm38) R35C probably damaging Het
Tnxb A T 17: 34,718,469 (GRCm38) N3811Y probably damaging Het
Tpte A C 8: 22,345,885 (GRCm38) N428T probably damaging Het
Trpm6 A G 19: 18,854,265 (GRCm38) D1498G probably benign Het
Tsc2 C T 17: 24,623,470 (GRCm38) probably benign Het
Ttn C T 2: 76,872,933 (GRCm38) probably benign Het
Wdr24 A G 17: 25,826,043 (GRCm38) I251V probably benign Het
Wdr92 A T 11: 17,229,832 (GRCm38) T278S probably benign Het
Zc3h6 T C 2: 129,006,086 (GRCm38) Y278H probably damaging Het
Zfat A G 15: 68,118,934 (GRCm38) probably null Het
Zfp442 A T 2: 150,408,122 (GRCm38) V620E possibly damaging Het
Zfp788 A G 7: 41,649,560 (GRCm38) H540R probably damaging 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
R2112:Prdm2 UTSW 4 143,131,936 (GRCm38) missense probably benign
R2221:Prdm2 UTSW 4 143,134,899 (GRCm38) missense possibly damaging 0.58
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'- GTTGTCTAAAACCAGCACTCC -3'
(R):5'- GAGTTTGCCAGAAGAGCCTG -3'

Sequencing Primer
(F):5'- AAACCAGCACTCCATTTTTGGG -3'
(R):5'- ATGACTCCTCTGAAGAGCTTTACACG -3'
Posted On 2014-08-25