Incidental Mutation 'R7976:Prdm2'
ID |
650895 |
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 |
046019-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7976 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143107391-143212995 bp(-) (GRCm38) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 143133242 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 1159
(C1159*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105778]
|
AlphaFold |
A2A7B5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000105778
AA Change: C1159*
|
SMART Domains |
Protein: ENSMUSP00000101404 Gene: ENSMUSG00000057637 AA Change: C1159*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adssl1 |
A |
C |
12: 112,636,397 (GRCm38) |
I341L |
probably benign |
Het |
Aldh1b1 |
T |
A |
4: 45,803,092 (GRCm38) |
M210K |
possibly damaging |
Het |
Ankrd17 |
G |
A |
5: 90,283,592 (GRCm38) |
Q778* |
probably null |
Het |
Bmper |
T |
C |
9: 23,406,810 (GRCm38) |
V575A |
probably damaging |
Het |
Brinp2 |
A |
G |
1: 158,246,343 (GRCm38) |
V736A |
probably benign |
Het |
Ccdc81 |
A |
T |
7: 89,866,515 (GRCm38) |
L652* |
probably null |
Het |
Cdt1 |
C |
T |
8: 122,571,846 (GRCm38) |
R437W |
probably damaging |
Het |
Ckb |
A |
C |
12: 111,671,032 (GRCm38) |
L165R |
possibly damaging |
Het |
Col25a1 |
G |
T |
3: 130,496,426 (GRCm38) |
G255V |
probably damaging |
Het |
Ddx17 |
A |
G |
15: 79,535,955 (GRCm38) |
|
probably null |
Het |
Ddx58 |
T |
C |
4: 40,209,894 (GRCm38) |
M725V |
probably damaging |
Het |
Dennd4a |
G |
T |
9: 64,852,512 (GRCm38) |
G300W |
possibly damaging |
Het |
Dlg4 |
T |
A |
11: 70,039,182 (GRCm38) |
I316N |
probably damaging |
Het |
Dlgap2 |
C |
T |
8: 14,743,410 (GRCm38) |
P467L |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,841,401 (GRCm38) |
I4226M |
possibly damaging |
Het |
Drc1 |
G |
A |
5: 30,364,485 (GRCm38) |
A734T |
probably benign |
Het |
Entpd1 |
A |
G |
19: 40,612,421 (GRCm38) |
M1V |
probably null |
Het |
Exph5 |
T |
G |
9: 53,376,635 (GRCm38) |
I1672S |
possibly damaging |
Het |
Fam149b |
T |
A |
14: 20,377,784 (GRCm38) |
D379E |
probably damaging |
Het |
Fgfr2 |
T |
C |
7: 130,185,344 (GRCm38) |
T461A |
probably damaging |
Het |
Frem1 |
A |
G |
4: 83,001,709 (GRCm38) |
V469A |
probably damaging |
Het |
Frem3 |
A |
T |
8: 80,611,602 (GRCm38) |
K175* |
probably null |
Het |
Fsd2 |
C |
T |
7: 81,559,881 (GRCm38) |
G71E |
probably benign |
Het |
Gcat |
T |
C |
15: 79,034,988 (GRCm38) |
I116T |
probably damaging |
Het |
Gigyf2 |
G |
A |
1: 87,403,736 (GRCm38) |
S202N |
unknown |
Het |
Glra3 |
T |
G |
8: 56,112,876 (GRCm38) |
|
probably null |
Het |
Golga4 |
C |
T |
9: 118,536,768 (GRCm38) |
T296I |
possibly damaging |
Het |
Herc1 |
C |
T |
9: 66,434,270 (GRCm38) |
T1816I |
possibly damaging |
Het |
Igfbpl1 |
C |
A |
4: 45,826,786 (GRCm38) |
R3L |
unknown |
Het |
Ighv15-2 |
A |
T |
12: 114,564,850 (GRCm38) |
S28T |
probably benign |
Het |
Kat2b |
T |
A |
17: 53,648,807 (GRCm38) |
M427K |
probably benign |
Het |
Kdm4c |
A |
G |
4: 74,377,669 (GRCm38) |
T882A |
probably damaging |
Het |
Kif1a |
G |
T |
1: 93,039,774 (GRCm38) |
F1138L |
probably damaging |
Het |
Klhl20 |
A |
T |
1: 161,106,737 (GRCm38) |
S237R |
probably benign |
Het |
Lamc1 |
A |
T |
1: 153,247,268 (GRCm38) |
N725K |
probably damaging |
Het |
Lmtk3 |
A |
G |
7: 45,795,466 (GRCm38) |
D1191G |
unknown |
Het |
Ltbp1 |
C |
A |
17: 75,363,363 (GRCm38) |
N1466K |
possibly damaging |
Het |
Ly75 |
T |
C |
2: 60,365,088 (GRCm38) |
E242G |
probably damaging |
Het |
Lyrm1 |
T |
C |
7: 119,916,226 (GRCm38) |
V113A |
probably benign |
Het |
Mfsd13a |
G |
T |
19: 46,372,007 (GRCm38) |
A333S |
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,162,403 (GRCm38) |
S380P |
possibly damaging |
Het |
Mrc2 |
A |
G |
11: 105,348,003 (GRCm38) |
K1295E |
possibly damaging |
Het |
Muc5ac |
A |
T |
7: 141,809,791 (GRCm38) |
I2280F |
unknown |
Het |
Neurod2 |
A |
C |
11: 98,327,197 (GRCm38) |
F380L |
probably damaging |
Het |
Ntrk3 |
G |
A |
7: 78,356,206 (GRCm38) |
A469V |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,198,953 (GRCm38) |
F584L |
probably damaging |
Het |
Oas1d |
A |
T |
5: 120,919,147 (GRCm38) |
Y272F |
probably damaging |
Het |
Olfm3 |
T |
C |
3: 115,081,145 (GRCm38) |
V30A |
probably benign |
Het |
Olfr1054 |
A |
G |
2: 86,332,720 (GRCm38) |
V212A |
probably benign |
Het |
Olfr1215 |
T |
A |
2: 89,001,629 (GRCm38) |
I220F |
probably damaging |
Het |
Olfr1472 |
A |
G |
19: 13,454,199 (GRCm38) |
I106T |
probably benign |
Het |
Pcdhga12 |
A |
G |
18: 37,768,374 (GRCm38) |
Y753C |
probably damaging |
Het |
Phox2b |
A |
G |
5: 67,096,171 (GRCm38) |
V294A |
unknown |
Het |
Ptpn12 |
G |
T |
5: 21,002,633 (GRCm38) |
S275* |
probably null |
Het |
Rnf223 |
A |
T |
4: 156,132,319 (GRCm38) |
E50D |
probably damaging |
Het |
Rrp12 |
A |
T |
19: 41,891,109 (GRCm38) |
Y169N |
probably benign |
Het |
Sgip1 |
T |
C |
4: 102,900,539 (GRCm38) |
|
probably null |
Het |
Shank2 |
T |
C |
7: 144,411,061 (GRCm38) |
I802T |
probably damaging |
Het |
Skint2 |
A |
T |
4: 112,624,132 (GRCm38) |
N64I |
probably damaging |
Het |
Smpd3 |
A |
C |
8: 106,255,622 (GRCm38) |
C617G |
probably benign |
Het |
Tmem106c |
G |
C |
15: 97,968,104 (GRCm38) |
G192R |
probably damaging |
Het |
Tmem72 |
T |
C |
6: 116,696,839 (GRCm38) |
H106R |
probably damaging |
Het |
Upf2 |
G |
C |
2: 6,026,115 (GRCm38) |
V789L |
unknown |
Het |
Vash1 |
A |
G |
12: 86,679,984 (GRCm38) |
|
probably benign |
Het |
Vmn1r201 |
T |
A |
13: 22,474,705 (GRCm38) |
Y30N |
probably benign |
Het |
Xpr1 |
A |
G |
1: 155,290,289 (GRCm38) |
F571L |
possibly damaging |
Het |
Yif1a |
T |
C |
19: 5,089,787 (GRCm38) |
S87P |
probably damaging |
Het |
Zer1 |
T |
C |
2: 30,107,508 (GRCm38) |
Y462C |
probably damaging |
Het |
Zfp597 |
G |
A |
16: 3,866,511 (GRCm38) |
P127L |
possibly damaging |
Het |
Zxdc |
T |
C |
6: 90,398,767 (GRCm38) |
S742P |
probably benign |
Het |
|
Other mutations in Prdm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- ACTCGTGGTGTGTGCATAACTC -3'
(R):5'- AACCTGGAAGCATCTCTCCC -3'
Sequencing Primer
(F):5'- CATAACTCATCTGGGTGGAGATCAC -3'
(R):5'- TGGAAGCATCTCTCCCTGCAATAAC -3'
|
Posted On |
2020-09-15 |