Incidental Mutation 'R3944:Prdm2'
| ID |
307581 |
| 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 |
040925-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3944 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
142833961-142939560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 142858385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 1635
(R1635Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105778]
|
| AlphaFold |
A2A7B5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105778
AA Change: R1635Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: R1635Q
| 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 |
0.3742 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 6430548M08Rik |
T |
C |
8: 120,879,241 (GRCm39) |
L213P |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,307,347 (GRCm39) |
K1491E |
probably benign |
Het |
| Akr1c12 |
T |
A |
13: 4,329,339 (GRCm39) |
H6L |
probably benign |
Het |
| Ankrd50 |
C |
T |
3: 38,506,645 (GRCm39) |
C251Y |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,084,210 (GRCm39) |
I3876V |
possibly damaging |
Het |
| Bltp2 |
T |
A |
11: 78,160,350 (GRCm39) |
L603* |
probably null |
Het |
| Calu |
T |
C |
6: 29,361,710 (GRCm39) |
S125P |
possibly damaging |
Het |
| Cdh10 |
A |
G |
15: 18,964,335 (GRCm39) |
T166A |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,755,892 (GRCm39) |
|
probably benign |
Het |
| Cntn4 |
T |
G |
6: 106,595,375 (GRCm39) |
N497K |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,793,407 (GRCm39) |
C381S |
probably damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,589,151 (GRCm39) |
N221S |
probably benign |
Het |
| Dnaaf5 |
C |
T |
5: 139,138,679 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,176,645 (GRCm39) |
D755G |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,622,197 (GRCm39) |
V418E |
probably damaging |
Het |
| Eefsec |
T |
A |
6: 88,275,076 (GRCm39) |
H296L |
probably benign |
Het |
| Elmo3 |
T |
C |
8: 106,035,852 (GRCm39) |
|
probably null |
Het |
| Gcm1 |
C |
T |
9: 77,967,098 (GRCm39) |
Q106* |
probably null |
Het |
| Gnl1 |
G |
T |
17: 36,299,413 (GRCm39) |
G528V |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| H2-T23 |
A |
G |
17: 36,341,535 (GRCm39) |
V312A |
probably benign |
Het |
| Hectd4 |
C |
A |
5: 121,441,588 (GRCm39) |
|
probably benign |
Het |
| Hoxa7 |
T |
A |
6: 52,193,606 (GRCm39) |
|
probably benign |
Het |
| Ifnlr1 |
T |
A |
4: 135,428,539 (GRCm39) |
V122E |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,512,025 (GRCm39) |
M1036T |
probably damaging |
Het |
| Khdc1b |
G |
T |
1: 21,455,030 (GRCm39) |
K96N |
probably damaging |
Het |
| Kif19a |
A |
T |
11: 114,677,561 (GRCm39) |
Y578F |
probably benign |
Het |
| Krt4 |
G |
A |
15: 101,829,685 (GRCm39) |
T281M |
probably benign |
Het |
| Lyl1 |
A |
C |
8: 85,430,631 (GRCm39) |
T178P |
probably damaging |
Het |
| Marchf6 |
A |
G |
15: 31,488,960 (GRCm39) |
V317A |
probably benign |
Het |
| Mmp1b |
G |
A |
9: 7,384,708 (GRCm39) |
T280I |
possibly damaging |
Het |
| Mpi |
T |
C |
9: 57,452,536 (GRCm39) |
D332G |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,431,247 (GRCm39) |
T1197A |
probably benign |
Het |
| Ntng2 |
G |
A |
2: 29,094,289 (GRCm39) |
L361F |
probably benign |
Het |
| Obscn |
A |
T |
11: 59,023,373 (GRCm39) |
I668N |
probably damaging |
Het |
| Or52x1 |
A |
T |
7: 104,853,162 (GRCm39) |
C129* |
probably null |
Het |
| Or8k40 |
A |
G |
2: 86,584,525 (GRCm39) |
S186P |
probably benign |
Het |
| Pabpc1l |
A |
G |
2: 163,884,247 (GRCm39) |
E328G |
probably damaging |
Het |
| Pan3 |
A |
T |
5: 147,387,540 (GRCm39) |
N170Y |
probably damaging |
Het |
| Rassf6 |
G |
T |
5: 90,752,185 (GRCm39) |
Q258K |
possibly damaging |
Het |
| Ribc2 |
A |
G |
15: 85,019,451 (GRCm39) |
M78V |
probably benign |
Het |
| Rp9 |
A |
C |
9: 22,361,154 (GRCm39) |
H44Q |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,799,950 (GRCm39) |
H73L |
probably damaging |
Het |
| Slc6a12 |
A |
T |
6: 121,331,239 (GRCm39) |
|
probably null |
Het |
| Smg6 |
G |
A |
11: 74,820,367 (GRCm39) |
G213R |
probably damaging |
Het |
| Spout1 |
A |
G |
2: 30,064,148 (GRCm39) |
V372A |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,084,807 (GRCm39) |
|
probably null |
Het |
| Tab1 |
T |
C |
15: 80,037,941 (GRCm39) |
L258P |
probably damaging |
Het |
| Tbl3 |
A |
G |
17: 24,919,682 (GRCm39) |
S791P |
possibly damaging |
Het |
| Tcof1 |
C |
A |
18: 60,955,909 (GRCm39) |
D927Y |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Topaz1 |
T |
C |
9: 122,579,669 (GRCm39) |
S860P |
possibly damaging |
Het |
| Vill |
T |
C |
9: 118,897,499 (GRCm39) |
I258T |
probably benign |
Het |
| Vmn1r204 |
G |
A |
13: 22,741,014 (GRCm39) |
R215H |
probably benign |
Het |
| Vmn2r106 |
A |
T |
17: 20,487,913 (GRCm39) |
F829I |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,363,930 (GRCm39) |
I662N |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,885 (GRCm39) |
F253I |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,288,873 (GRCm39) |
N411Y |
probably damaging |
Het |
| Zfp932 |
T |
A |
5: 110,157,820 (GRCm39) |
V506E |
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 |
|
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 |
|
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'- AGTGCCACTCTGCTAAAAGGAC -3'
(R):5'- GAATTCTAGTCCCGTAAGAATGGC -3'
Sequencing Primer
(F):5'- TCTGCTAAAAGGACAGACGTC -3'
(R):5'- GTCCCGTAAGAATGGCTAAGATTAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation