Incidental Mutation 'R7193:Prdm2'
ID 559712
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 045334-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7193 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 143107391-143212995 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143180894 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 36 (V36D)
Ref Sequence ENSEMBL: ENSMUSP00000116458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105778] [ENSMUST00000134791] [ENSMUST00000154280]
AlphaFold A2A7B5
Predicted Effect probably damaging
Transcript: ENSMUST00000105778
AA Change: V36D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: V36D

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 probably damaging
Transcript: ENSMUST00000134791
AA Change: V36D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116458
Gene: ENSMUSG00000057637
AA Change: V36D

DomainStartEndE-ValueType
SET 29 137 1.35e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154280
AA Change: V36D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117741
Gene: ENSMUSG00000057637
AA Change: V36D

DomainStartEndE-ValueType
SET 29 146 2.79e-21 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,219,189 (GRCm38) probably null Het
4930402H24Rik C A 2: 130,806,788 (GRCm38) R258L unknown Het
Abca16 T C 7: 120,427,186 (GRCm38) S124P probably damaging Het
Acan A T 7: 79,086,342 (GRCm38) S179C probably damaging Het
Atg2b A C 12: 105,664,708 (GRCm38) H319Q probably damaging Het
Bptf G A 11: 107,054,809 (GRCm38) Q2535* probably null Het
Brpf3 T C 17: 28,836,691 (GRCm38) *1205R probably null Het
Cabyr C A 18: 12,751,758 (GRCm38) P434Q probably damaging Het
Cacna1g C A 11: 94,409,231 (GRCm38) D2268Y possibly damaging Het
Ccng2 C G 5: 93,273,343 (GRCm38) S237R probably benign Het
Cct4 A G 11: 22,997,111 (GRCm38) T201A probably benign Het
Cdyl2 A C 8: 116,623,994 (GRCm38) S133A probably benign Het
Cep76 A G 18: 67,641,134 (GRCm38) L14P possibly damaging Het
Col4a3bp T A 13: 96,630,833 (GRCm38) probably null Het
Crybg3 A T 16: 59,559,593 (GRCm38) S433T possibly damaging Het
Cul9 T C 17: 46,538,497 (GRCm38) K574R probably damaging Het
Cyp2u1 T C 3: 131,291,143 (GRCm38) I527V probably benign Het
E130309D02Rik A G 5: 143,307,843 (GRCm38) V293A probably benign Het
F5 A G 1: 164,219,397 (GRCm38) N2142S probably damaging Het
Fam50b G A 13: 34,747,101 (GRCm38) E187K possibly damaging Het
Flnc A G 6: 29,450,871 (GRCm38) Y1506C probably damaging Het
Foxred2 T A 15: 77,952,030 (GRCm38) S376C probably damaging Het
Gbe1 T C 16: 70,495,370 (GRCm38) L530P probably damaging Het
Gm8994 A T 6: 136,329,215 (GRCm38) I225F probably damaging Het
Hmcn1 T C 1: 150,649,580 (GRCm38) R3398G probably null Het
Igf1r T C 7: 68,187,157 (GRCm38) L587P probably damaging Het
Kcna3 T C 3: 107,036,537 (GRCm38) Y39H probably benign Het
Krtap5-2 GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA GCTACAGCCTCCCTTGCA 7: 142,175,243 (GRCm38) probably benign Het
Mbl1 T C 14: 41,158,712 (GRCm38) F186L probably damaging Het
Ncam2 A T 16: 81,589,795 (GRCm38) K687N probably damaging Het
Nedd4l T C 18: 64,997,370 (GRCm38) V24A probably damaging Het
Nek1 A G 8: 61,073,578 (GRCm38) E661G probably damaging Het
Nudt14 G T 12: 112,939,320 (GRCm38) D28E probably benign Het
Olfr1297 A T 2: 111,621,255 (GRCm38) V273E probably damaging Het
Olfr134 T A 17: 38,175,096 (GRCm38) I4N probably benign Het
Olfr344 T A 2: 36,569,236 (GRCm38) C213S probably benign Het
Olfr702 T C 7: 106,824,591 (GRCm38) probably benign Het
Pdk4 A T 6: 5,487,089 (GRCm38) M319K probably benign Het
Pfkp T C 13: 6,593,216 (GRCm38) N522S probably benign Het
Pias2 T C 18: 77,120,121 (GRCm38) V234A possibly damaging Het
Pik3c2b C A 1: 133,079,774 (GRCm38) H625Q probably benign Het
Pnpla7 T C 2: 25,051,615 (GRCm38) S1117P probably damaging Het
Prep C T 10: 45,092,699 (GRCm38) R98C probably benign Het
Rae1 T C 2: 173,008,317 (GRCm38) probably null Het
Rgs3 T A 4: 62,615,336 (GRCm38) V138E probably damaging Het
Rnf185 T C 11: 3,425,329 (GRCm38) T142A possibly damaging Het
Rsph6a C A 7: 19,065,647 (GRCm38) P401Q probably damaging Het
Runx3 A T 4: 135,121,145 (GRCm38) T14S probably benign Het
Scaf11 A G 15: 96,419,161 (GRCm38) S841P probably damaging Het
Spta1 T A 1: 174,184,612 (GRCm38) L328Q probably damaging Het
Sqor G A 2: 122,804,009 (GRCm38) V318M probably damaging Het
Stox2 T C 8: 47,186,454 (GRCm38) T902A probably benign Het
Susd3 T C 13: 49,231,203 (GRCm38) H248R probably damaging Het
Syne1 T C 10: 5,233,406 (GRCm38) Y4133C probably damaging Het
Tbc1d20 C T 2: 152,311,417 (GRCm38) T289M probably benign Het
Unc80 T A 1: 66,549,784 (GRCm38) F1036Y possibly damaging Het
Zbtb7c T C 18: 76,137,938 (GRCm38) C366R probably damaging Het
Zeb1 A T 18: 5,772,756 (GRCm38) D1015V probably damaging Het
Zfp606 T G 7: 12,494,039 (GRCm38) S696A 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
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'- GCAAGAGGAAGCTGGTTTCC -3'
(R):5'- CTCCAGGTTCAGTAGAGCAATG -3'

Sequencing Primer
(F):5'- GGAAGCTGGTTTCCTTTCTATAAC -3'
(R):5'- TTCAGTAGAGCAATGCAAAGC -3'
Posted On 2019-06-26