Incidental Mutation 'R0384:Prdm2'
ID |
31156 |
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 |
038590-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0384 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
142833961-142939560 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142862258 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 344
(E344G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105778]
|
AlphaFold |
A2A7B5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105778
AA Change: E344G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000101404 Gene: ENSMUSG00000057637 AA Change: E344G
Domain | Start | End | E-Value | Type |
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 |
0.0701 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.7%
|
Validation Efficiency |
100% (72/72) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam8 |
T |
A |
7: 139,566,725 (GRCm39) |
|
probably benign |
Het |
Akr1b8 |
T |
C |
6: 34,341,265 (GRCm39) |
|
probably benign |
Het |
Arhgef39 |
A |
G |
4: 43,498,613 (GRCm39) |
L117P |
probably damaging |
Het |
Atp13a1 |
A |
T |
8: 70,249,974 (GRCm39) |
Q356L |
possibly damaging |
Het |
Bmp2k |
T |
A |
5: 97,178,984 (GRCm39) |
|
probably benign |
Het |
Ccdc141 |
A |
G |
2: 76,857,992 (GRCm39) |
V1063A |
probably damaging |
Het |
Col20a1 |
T |
C |
2: 180,640,955 (GRCm39) |
Y568H |
probably benign |
Het |
Crabp2 |
T |
C |
3: 87,860,328 (GRCm39) |
V134A |
possibly damaging |
Het |
Cyp19a1 |
T |
C |
9: 54,080,025 (GRCm39) |
K265E |
probably benign |
Het |
Cyp2j9 |
T |
C |
4: 96,474,122 (GRCm39) |
H106R |
probably benign |
Het |
Dcps |
T |
C |
9: 35,087,239 (GRCm39) |
K9R |
probably damaging |
Het |
Dnajc6 |
C |
T |
4: 101,456,153 (GRCm39) |
T47I |
probably damaging |
Het |
Dnhd1 |
T |
G |
7: 105,369,321 (GRCm39) |
S4315A |
possibly damaging |
Het |
Dnmt3l |
A |
T |
10: 77,888,571 (GRCm39) |
I158F |
possibly damaging |
Het |
Dock3 |
A |
G |
9: 106,779,094 (GRCm39) |
|
probably benign |
Het |
Eefsec |
A |
G |
6: 88,258,632 (GRCm39) |
|
probably null |
Het |
Fam204a |
T |
C |
19: 60,209,728 (GRCm39) |
M1V |
probably null |
Het |
Fam98b |
T |
C |
2: 117,098,328 (GRCm39) |
V266A |
possibly damaging |
Het |
Fat2 |
A |
T |
11: 55,160,291 (GRCm39) |
I3274N |
possibly damaging |
Het |
Fbh1 |
A |
G |
2: 11,754,389 (GRCm39) |
I198T |
probably damaging |
Het |
Fer |
T |
C |
17: 64,231,179 (GRCm39) |
|
probably benign |
Het |
Fhad1 |
T |
A |
4: 141,729,737 (GRCm39) |
M89L |
probably benign |
Het |
Fjx1 |
C |
A |
2: 102,281,452 (GRCm39) |
C161F |
probably damaging |
Het |
Fkbp7 |
T |
A |
2: 76,496,168 (GRCm39) |
|
probably benign |
Het |
Gm42669 |
T |
A |
5: 107,656,664 (GRCm39) |
C976S |
probably benign |
Het |
Gm4845 |
T |
C |
1: 141,184,823 (GRCm39) |
|
noncoding transcript |
Het |
Herc1 |
T |
A |
9: 66,388,332 (GRCm39) |
|
probably benign |
Het |
Hook3 |
C |
T |
8: 26,534,263 (GRCm39) |
|
probably null |
Het |
Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
Itga2b |
A |
T |
11: 102,356,188 (GRCm39) |
|
probably null |
Het |
Klk1b21 |
T |
C |
7: 43,754,917 (GRCm39) |
Y71H |
probably benign |
Het |
Kndc1 |
A |
T |
7: 139,490,515 (GRCm39) |
N339I |
possibly damaging |
Het |
Ky |
C |
T |
9: 102,419,289 (GRCm39) |
T432I |
probably benign |
Het |
Map4 |
C |
T |
9: 109,863,696 (GRCm39) |
T307I |
probably damaging |
Het |
Matn1 |
T |
C |
4: 130,671,787 (GRCm39) |
L18P |
probably benign |
Het |
Mindy4 |
G |
A |
6: 55,193,669 (GRCm39) |
D121N |
probably damaging |
Het |
Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
Msto1 |
G |
A |
3: 88,817,646 (GRCm39) |
Q441* |
probably null |
Het |
Muc5ac |
A |
G |
7: 141,365,988 (GRCm39) |
H2048R |
possibly damaging |
Het |
Musk |
T |
C |
4: 58,373,711 (GRCm39) |
*879Q |
probably null |
Het |
Nat8f2 |
T |
C |
6: 85,845,350 (GRCm39) |
Y4C |
possibly damaging |
Het |
Ncaph2 |
T |
A |
15: 89,253,594 (GRCm39) |
I282N |
probably benign |
Het |
Nid1 |
A |
G |
13: 13,638,421 (GRCm39) |
T114A |
probably benign |
Het |
Npr1 |
C |
A |
3: 90,372,474 (GRCm39) |
G113C |
probably damaging |
Het |
Nrxn1 |
G |
A |
17: 90,515,775 (GRCm39) |
P193S |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,963,025 (GRCm39) |
F870L |
probably benign |
Het |
Or10h1b |
A |
G |
17: 33,395,522 (GRCm39) |
I45V |
probably damaging |
Het |
Or4c122 |
A |
G |
2: 89,079,414 (GRCm39) |
I208T |
possibly damaging |
Het |
Or6c5c |
T |
A |
10: 129,298,909 (GRCm39) |
Y121* |
probably null |
Het |
Or8k30 |
T |
A |
2: 86,339,727 (GRCm39) |
I308K |
possibly damaging |
Het |
Phf14 |
A |
G |
6: 11,997,019 (GRCm39) |
|
probably benign |
Het |
Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
Psmd12 |
T |
C |
11: 107,376,547 (GRCm39) |
V61A |
probably benign |
Het |
Relt |
T |
C |
7: 100,496,712 (GRCm39) |
D385G |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Scg2 |
T |
A |
1: 79,413,266 (GRCm39) |
I446F |
probably benign |
Het |
Sema3b |
G |
A |
9: 107,478,165 (GRCm39) |
L407F |
probably damaging |
Het |
Slc25a13 |
A |
T |
6: 6,042,600 (GRCm39) |
Y601* |
probably null |
Het |
Sun5 |
C |
T |
2: 153,700,885 (GRCm39) |
V270I |
probably benign |
Het |
Tex52 |
A |
G |
6: 128,356,496 (GRCm39) |
Y63C |
probably damaging |
Het |
Tmem138 |
A |
G |
19: 10,552,186 (GRCm39) |
|
probably benign |
Het |
Tnpo3 |
A |
G |
6: 29,582,163 (GRCm39) |
|
probably null |
Het |
Tspoap1 |
A |
T |
11: 87,657,280 (GRCm39) |
Q364L |
probably damaging |
Het |
Ttc41 |
T |
C |
10: 86,599,811 (GRCm39) |
L1037P |
probably damaging |
Het |
Ugcg |
T |
A |
4: 59,220,387 (GRCm39) |
D393E |
possibly damaging |
Het |
Vmn1r184 |
T |
C |
7: 25,967,076 (GRCm39) |
I274T |
probably benign |
Het |
Vmn2r27 |
A |
G |
6: 124,200,871 (GRCm39) |
V362A |
probably benign |
Het |
Vmn2r87 |
T |
A |
10: 130,307,712 (GRCm39) |
Y842F |
probably benign |
Het |
Vps8 |
T |
A |
16: 21,325,575 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Prdm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
R5618:Prdm2
|
UTSW |
4 |
142,860,107 (GRCm39) |
missense |
probably benign |
0.00 |
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'- GTGTGCCAAATGGTTTCCCACAG -3'
(R):5'- AAGCCAGGATGCAGTTCCACAG -3'
Sequencing Primer
(F):5'- CAGTACTTGCACTTGAAAGCG -3'
(R):5'- ggaagaggaggaggaggag -3'
|
Posted On |
2013-04-24 |