Incidental Mutation 'R2426:Prdm2'
ID 250204
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 040388-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2426 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 143107391-143212995 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 143111750 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 1679 (C1679*)
Ref Sequence ENSEMBL: ENSMUSP00000101404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778]
AlphaFold A2A7B5
Predicted Effect probably null
Transcript: ENSMUST00000105778
AA Change: C1679*
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: C1679*

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: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik T A 11: 23,576,801 (GRCm38) R190W probably damaging Het
Abca14 G T 7: 120,283,223 (GRCm38) V1203L probably benign Het
Adamtsl1 G A 4: 86,156,788 (GRCm38) V131I probably benign Het
Adgra3 A T 5: 50,009,449 (GRCm38) M187K possibly damaging Het
Agbl1 T C 7: 76,421,902 (GRCm38) V324A probably damaging Het
Ahnak A T 19: 9,002,851 (GRCm38) I500F possibly damaging Het
Aldh1l1 A G 6: 90,598,284 (GRCm38) D851G probably damaging Het
Amot T C X: 145,476,291 (GRCm38) K460E probably damaging Het
Arhgef3 G T 14: 27,384,181 (GRCm38) E161* probably null Het
Atg9b A T 5: 24,386,994 (GRCm38) I669N probably damaging Het
AY761184 T G 8: 21,702,637 (GRCm38) K114N possibly damaging Het
Ccdc83 A G 7: 90,228,431 (GRCm38) Y268H probably damaging Het
Cep170 A G 1: 176,774,635 (GRCm38) S302P probably benign Het
Cyp4a31 T A 4: 115,571,016 (GRCm38) M303K probably damaging Het
Cyp4v3 T A 8: 45,317,776 (GRCm38) Y231F probably benign Het
Dock3 A T 9: 106,914,541 (GRCm38) L1411Q possibly damaging Het
Dsg1a T A 18: 20,336,804 (GRCm38) I629N probably damaging Het
Dst A T 1: 34,192,812 (GRCm38) H2837L probably benign Het
Fam114a2 G A 11: 57,493,080 (GRCm38) P343L probably benign Het
Fbrs A G 7: 127,487,339 (GRCm38) probably null Het
Fbxl13 A C 5: 21,522,137 (GRCm38) D620E probably damaging Het
Frmd4a T A 2: 4,529,862 (GRCm38) S164T probably damaging Het
Gdi2 T G 13: 3,562,034 (GRCm38) S330A probably benign Het
Gm5878 A T 6: 85,118,631 (GRCm38) M70K probably benign Het
H2-Q6 G T 17: 35,424,937 (GRCm38) A21S probably benign Het
Hfm1 A T 5: 106,847,653 (GRCm38) probably null Het
Hnmt C T 2: 24,019,155 (GRCm38) C82Y probably benign Het
Il1rl1 C A 1: 40,446,619 (GRCm38) A310D probably damaging Het
Ints1 A T 5: 139,771,814 (GRCm38) probably null Het
Kcne4 C A 1: 78,817,971 (GRCm38) A112E possibly damaging Het
Krt32 T C 11: 100,086,366 (GRCm38) K236R possibly damaging Het
Maml2 T C 9: 13,706,498 (GRCm38) L380P probably damaging Het
Meis1 A T 11: 18,988,356 (GRCm38) D218E possibly damaging Het
Mon1b G A 8: 113,639,120 (GRCm38) G360D probably damaging Het
Mpp4 A G 1: 59,130,057 (GRCm38) S383P probably damaging Het
Neb A G 2: 52,169,053 (GRCm38) probably null Het
Nlgn2 A T 11: 69,827,086 (GRCm38) I431N probably damaging Het
Nr2e1 A G 10: 42,563,485 (GRCm38) L134P probably damaging Het
Olfr329-ps A T 11: 58,543,094 (GRCm38) Y127* probably null Het
Olfr371 T C 8: 85,231,064 (GRCm38) S190P probably damaging Het
Olfr777 T C 10: 129,269,266 (GRCm38) Q19R probably benign Het
Opcml G A 9: 28,903,367 (GRCm38) probably null Het
Pate2 A T 9: 35,670,480 (GRCm38) probably null Het
Pgr G A 9: 8,900,717 (GRCm38) V84M probably damaging Het
Pigu A T 2: 155,299,082 (GRCm38) V296D probably damaging Het
Plcb2 G A 2: 118,715,649 (GRCm38) T555M probably damaging Het
Pld5 T G 1: 175,963,976 (GRCm38) D426A probably benign Het
Psme2b A T 11: 48,946,063 (GRCm38) V19D probably benign Het
Ptpn9 A T 9: 57,027,428 (GRCm38) N159Y possibly damaging Het
Sdc3 A T 4: 130,818,803 (GRCm38) T64S unknown Het
Serping1 T G 2: 84,770,219 (GRCm38) S260R probably damaging Het
Slc20a1 T C 2: 129,208,230 (GRCm38) F436S probably benign Het
Sntb1 A T 15: 55,906,179 (GRCm38) I138N probably damaging Het
Sorcs3 A T 19: 48,722,925 (GRCm38) Y643F probably damaging Het
Spink1 G T 18: 43,735,222 (GRCm38) S23* probably null Het
Stag1 T C 9: 100,845,116 (GRCm38) probably null Het
Tnfaip8l1 G A 17: 56,172,030 (GRCm38) V107I probably benign Het
Tnik A G 3: 28,646,681 (GRCm38) S907G probably damaging Het
Ttf1 T A 2: 29,067,185 (GRCm38) M489K probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm38) P46S probably benign Het
Usp54 G A 14: 20,564,940 (GRCm38) A811V probably benign Het
Xirp2 A G 2: 67,514,471 (GRCm38) N2352S probably benign Het
Zan T C 5: 137,388,992 (GRCm38) Y4933C unknown Het
Zbtb8a A G 4: 129,360,219 (GRCm38) S161P probably benign Het
Zkscan5 A T 5: 145,220,940 (GRCm38) I751L probably benign Het
Zscan4d A G 7: 11,165,095 (GRCm38) F85S probably damaging Het
Zzef1 A G 11: 72,915,265 (GRCm38) M2647V 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
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'- ACCCAAGATGTACCTGGACC -3'
(R):5'- CCCTGGACTGACATTTCCATTAGG -3'

Sequencing Primer
(F):5'- GATGTACCTGGACCCCACC -3'
(R):5'- CCATTAGGAAGTTCTGTCACCC -3'
Posted On 2014-11-12