Incidental Mutation 'R8732:Prdm2'
ID 662792
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 068580-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8732 (G1)
Quality Score 158.009
Status Validated
Chromosome 4
Chromosomal Location 143107391-143212995 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 143136010 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 237 (Q237K)
Ref Sequence ENSEMBL: ENSMUSP00000101404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778]
AlphaFold A2A7B5
Predicted Effect probably benign
Transcript: ENSMUST00000105778
AA Change: Q237K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: Q237K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.0%
Validation Efficiency 98% (63/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp A T 13: 41,828,146 (GRCm38) N82K probably damaging Het
Ankrd36 T A 11: 5,628,906 (GRCm38) S57T possibly damaging Het
Aoc3 A G 11: 101,331,817 (GRCm38) N293S probably benign Het
Aup1 A T 6: 83,056,621 (GRCm38) H302L probably damaging Het
Bptf G A 11: 107,040,380 (GRCm38) R277W probably damaging Het
Cald1 A G 6: 34,758,011 (GRCm38) I346V unknown Het
Cd44 T C 2: 102,834,300 (GRCm38) T519A possibly damaging Het
Cela1 A G 15: 100,682,885 (GRCm38) probably null Het
Ces2g T C 8: 104,962,563 (GRCm38) V57A possibly damaging Het
Cpt1b G C 15: 89,424,425 (GRCm38) T100S probably benign Het
D6Wsu163e A T 6: 126,955,896 (GRCm38) I361F possibly damaging Het
Dock5 A T 14: 67,846,000 (GRCm38) D153E possibly damaging Het
Dync2h1 G T 9: 7,168,326 (GRCm38) R430S probably damaging Het
Eml5 C T 12: 98,815,959 (GRCm38) G1405R probably damaging Het
Ergic2 G A 6: 148,201,477 (GRCm38) A91V probably damaging Het
Fancl A T 11: 26,469,754 (GRCm38) I336L probably benign Het
Fpr3 A G 17: 17,970,961 (GRCm38) T165A possibly damaging Het
Gm11639 T A 11: 104,804,274 (GRCm38) F1730L probably benign Het
Gon4l A G 3: 88,899,984 (GRCm38) I1662V possibly damaging Het
Gpr153 C T 4: 152,279,101 (GRCm38) probably benign Het
Hdac4 C A 1: 91,947,517 (GRCm38) A911S probably damaging Het
Ighd T C 12: 113,414,563 (GRCm38) N139D Het
Klhl22 T A 16: 17,771,826 (GRCm38) L117Q probably damaging Het
Kntc1 A G 5: 123,790,117 (GRCm38) S1226G probably benign Het
Lama5 A T 2: 180,186,688 (GRCm38) C2126S probably damaging Het
Ldlr A G 9: 21,739,689 (GRCm38) I468V probably benign Het
Lmtk3 G A 7: 45,798,288 (GRCm38) A1253T unknown Het
Lta T A 17: 35,204,069 (GRCm38) N93Y probably damaging Het
Macf1 A T 4: 123,509,770 (GRCm38) probably null Het
Mink1 A G 11: 70,610,076 (GRCm38) probably null Het
Myl10 G C 5: 136,697,971 (GRCm38) V70L probably benign Het
Ntpcr A G 8: 125,745,335 (GRCm38) M132V probably benign Het
Olfr298 A G 7: 86,488,853 (GRCm38) S233P probably damaging Het
Olfr664 A G 7: 104,733,908 (GRCm38) M152T probably benign Het
Olfr851 T C 9: 19,496,802 (GRCm38) I18T probably benign Het
Padi2 A G 4: 140,933,279 (GRCm38) I357V probably benign Het
Pax7 G T 4: 139,779,609 (GRCm38) H372Q probably benign Het
Paxip1 A G 5: 27,744,543 (GRCm38) Y966H probably damaging Het
Pde4b A C 4: 102,555,625 (GRCm38) D199A probably null Het
Pkd1l2 T C 8: 117,065,572 (GRCm38) N494D probably benign Het
Prune2 T C 19: 17,120,405 (GRCm38) L1091P probably damaging Het
Rab9 C T X: 166,457,758 (GRCm38) D186N probably benign Het
Rassf5 A G 1: 131,178,527 (GRCm38) *414Q probably null Het
Repin1 G T 6: 48,597,345 (GRCm38) E403* probably null Het
Rrp9 C A 9: 106,483,189 (GRCm38) T238K probably benign Het
Slc44a2 A G 9: 21,348,586 (GRCm38) D630G probably benign Het
Slc7a9 A G 7: 35,457,018 (GRCm38) D295G probably benign Het
Slco3a1 A T 7: 74,284,306 (GRCm38) M706K possibly damaging Het
Spag9 T C 11: 94,071,688 (GRCm38) probably null Het
Stam2 A T 2: 52,700,168 (GRCm38) Y394N probably damaging Het
Stard9 T C 2: 120,679,961 (GRCm38) L341P probably damaging Het
Steap3 A T 1: 120,243,894 (GRCm38) H160Q probably damaging Het
Stxbp5l A T 16: 37,241,447 (GRCm38) C334S probably benign Het
Tcof1 G C 18: 60,829,051 (GRCm38) A702G possibly damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,160,856 (GRCm38) probably null Het
Tmem74 A T 15: 43,868,060 (GRCm38) probably benign Het
Ttn T A 2: 76,797,391 (GRCm38) N14736I probably damaging Het
Ttn T C 2: 76,707,136 (GRCm38) K34816R possibly damaging Het
Vmn1r183 A G 7: 24,055,465 (GRCm38) Q231R possibly damaging Het
Vmn1r235 A G 17: 21,262,177 (GRCm38) T255A probably damaging Het
Wasl A T 6: 24,619,210 (GRCm38) I437K unknown Het
Wdr34 T A 2: 30,032,208 (GRCm38) T414S possibly damaging Het
Ywhae A G 11: 75,751,943 (GRCm38) N43D probably damaging Het
Zfp583 A T 7: 6,317,211 (GRCm38) Y267* probably null Het
Zfp608 C T 18: 54,988,000 (GRCm38) G172R probably benign 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
R2030:Prdm2 UTSW 4 143,132,764 (GRCm38) missense possibly damaging 0.53
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
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'- GAGCTTTCATTCGGCATGTCTG -3'
(R):5'- GATTTGCACCCAGCTCAAC -3'

Sequencing Primer
(F):5'- GCATGTCTGCTTCTTCCTCC -3'
(R):5'- GTTCACATATCTTAGCAGCTTCTAG -3'
Posted On 2021-03-08