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)
|
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*
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: 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |