Incidental Mutation 'R5618:Prdm2'
ID 439624
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 043277-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5618 (G1)
Quality Score 128
Status Not validated
Chromosome 4
Chromosomal Location 142833961-142939560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 142860107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 1061 (C1061Y)
Ref Sequence ENSEMBL: ENSMUSP00000101404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778]
AlphaFold A2A7B5
Predicted Effect probably benign
Transcript: ENSMUST00000105778
AA Change: C1061Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: C1061Y

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik G A 5: 107,696,065 (GRCm39) W167* probably null Het
Acvr1 C T 2: 58,352,955 (GRCm39) R335Q probably damaging Het
Atg7 A G 6: 114,650,660 (GRCm39) D67G probably damaging Het
Avil T C 10: 126,846,446 (GRCm39) F417S possibly damaging Het
AW551984 A T 9: 39,502,000 (GRCm39) L702Q probably damaging Het
Bcl7a A T 5: 123,499,265 (GRCm39) N95Y probably damaging Het
Cblb A G 16: 51,973,031 (GRCm39) D454G possibly damaging Het
Cc2d2a A T 5: 43,887,249 (GRCm39) Q1226H probably benign Het
Cct5 A G 15: 31,598,161 (GRCm39) S13P possibly damaging Het
Clca3a1 C T 3: 144,710,738 (GRCm39) E822K probably benign Het
Csgalnact2 A T 6: 118,103,277 (GRCm39) D228E probably damaging Het
Defb12 A T 8: 19,164,814 (GRCm39) M8K possibly damaging Het
Dipk1b T C 2: 26,524,887 (GRCm39) S96P probably damaging Het
Dysf A G 6: 84,083,806 (GRCm39) D736G probably benign Het
Exog G T 9: 119,291,817 (GRCm39) D365Y probably damaging Het
Fam222b T G 11: 78,045,066 (GRCm39) V81G probably benign Het
Fbl A G 7: 27,878,411 (GRCm39) E301G probably damaging Het
Fez1 A T 9: 36,755,228 (GRCm39) N76Y probably damaging Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
H2-Q4 T A 17: 35,598,901 (GRCm39) F57Y probably damaging Het
Ift88 T C 14: 57,718,965 (GRCm39) I650T possibly damaging Het
Kif1b A T 4: 149,354,346 (GRCm39) D231E possibly damaging Het
Lig4 A T 8: 10,022,021 (GRCm39) D586E probably benign Het
Mlc1 C A 15: 88,858,769 (GRCm39) L126F probably damaging Het
Muc4 A G 16: 32,754,253 (GRCm38) T1376A probably benign Het
Ncoa6 A T 2: 155,279,817 (GRCm39) D66E possibly damaging Het
Or6ae1 A G 7: 139,742,185 (GRCm39) V226A probably damaging Het
Or8b44 C T 9: 38,410,036 (GRCm39) Q24* probably null Het
Pard6a T C 8: 106,429,546 (GRCm39) V168A probably damaging Het
Pmpcb A G 5: 21,947,786 (GRCm39) N163S possibly damaging Het
Pramel27 A T 4: 143,577,263 (GRCm39) E15V possibly damaging Het
Prkdc A G 16: 15,627,476 (GRCm39) Y3378C probably damaging Het
Sema6a A T 18: 47,415,015 (GRCm39) V425E probably damaging Het
Sema7a A T 9: 57,867,566 (GRCm39) E439D possibly damaging Het
Serpinf1 T A 11: 75,301,010 (GRCm39) T402S possibly damaging Het
Sf3a2 T C 10: 80,640,410 (GRCm39) probably benign Het
Skic3 T A 13: 76,321,545 (GRCm39) S1346T probably benign Het
Smchd1 A T 17: 71,762,722 (GRCm39) D172E probably damaging Het
Spag5 T G 11: 78,194,906 (GRCm39) I71S probably benign Het
Spata31d1d G A 13: 59,874,214 (GRCm39) A1107V probably benign Het
Svep1 A C 4: 58,070,537 (GRCm39) S2416R probably benign Het
Tbc1d9 A G 8: 83,969,221 (GRCm39) Y503C probably damaging Het
Tlr9 A T 9: 106,101,938 (GRCm39) I410F possibly damaging Het
Tmem87a C A 2: 120,199,787 (GRCm39) L452F probably benign Het
Tmprss11d A T 5: 86,454,154 (GRCm39) M217K probably benign Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Vmn2r80 T C 10: 78,984,755 (GRCm39) Y36H probably benign Het
Vmn2r87 A T 10: 130,315,817 (GRCm39) F83Y probably damaging Het
Vmp1 C T 11: 86,554,388 (GRCm39) R75H probably benign Het
Wapl T A 14: 34,413,863 (GRCm39) Y242N possibly damaging Het
Zfp473 T A 7: 44,391,156 (GRCm39) D6V 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
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'- ATGGACAGACAAATGTTTGGTTAGG -3'
(R):5'- AATGCCACTGCTCAGTCTCC -3'

Sequencing Primer
(F):5'- ACGAAGTTTCTGCTGAATGTCTC -3'
(R):5'- CTCTTCCGATTCTCTCCCCAACAG -3'
Posted On 2016-11-08