Incidental Mutation 'R2221:Prdm2'
| ID |
241480 |
| 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 |
040223-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2221 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143107391-143212995 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143134899 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 607
(N607S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105778]
|
| AlphaFold |
A2A7B5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105778
AA Change: N607S
PolyPhen 2
Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: N607S
| 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 |
0.1825 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (58/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430419D17Rik |
A |
T |
7: 131,247,457 (GRCm38) |
|
probably null |
Het |
| Adamtsl1 |
A |
C |
4: 86,388,525 (GRCm38) |
D1392A |
probably benign |
Het |
| Afdn |
T |
C |
17: 13,883,737 (GRCm38) |
|
probably benign |
Het |
| Aph1b |
A |
T |
9: 66,784,639 (GRCm38) |
M121K |
probably damaging |
Het |
| Aspg |
G |
A |
12: 112,114,434 (GRCm38) |
A120T |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,517,005 (GRCm38) |
T725A |
probably damaging |
Het |
| Cd1d2 |
A |
T |
3: 86,988,540 (GRCm38) |
I292F |
probably damaging |
Het |
| Cdk13 |
A |
G |
13: 17,719,535 (GRCm38) |
V495A |
probably damaging |
Het |
| Cfd |
A |
T |
10: 79,892,205 (GRCm38) |
|
probably null |
Het |
| Col9a2 |
C |
G |
4: 121,054,258 (GRCm38) |
R599G |
probably damaging |
Het |
| Cradd |
A |
C |
10: 95,175,873 (GRCm38) |
V135G |
probably benign |
Het |
| Cry1 |
A |
G |
10: 85,143,753 (GRCm38) |
C460R |
probably damaging |
Het |
| Ctu2 |
A |
G |
8: 122,480,910 (GRCm38) |
E375G |
probably damaging |
Het |
| Dym |
T |
G |
18: 75,230,165 (GRCm38) |
I580S |
probably damaging |
Het |
| Eif3e |
A |
G |
15: 43,251,547 (GRCm38) |
L411P |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,590,775 (GRCm38) |
E1091G |
possibly damaging |
Het |
| Enkur |
A |
G |
2: 21,189,319 (GRCm38) |
|
probably benign |
Het |
| Fam184a |
G |
A |
10: 53,655,079 (GRCm38) |
T733M |
probably damaging |
Het |
| Frem2 |
G |
A |
3: 53,516,857 (GRCm38) |
A3053V |
probably benign |
Het |
| Gbgt1 |
T |
C |
2: 28,498,423 (GRCm38) |
L40P |
probably damaging |
Het |
| Gm5174 |
T |
A |
10: 86,656,508 (GRCm38) |
|
noncoding transcript |
Het |
| Gys2 |
G |
T |
6: 142,456,422 (GRCm38) |
D230E |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 56,169,018 (GRCm38) |
|
probably null |
Het |
| Hps3 |
A |
T |
3: 20,002,363 (GRCm38) |
S815R |
probably benign |
Het |
| Igf1r |
C |
A |
7: 68,201,962 (GRCm38) |
S983R |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,853,768 (GRCm38) |
|
probably benign |
Het |
| Kcnc2 |
A |
G |
10: 112,456,526 (GRCm38) |
N91D |
probably damaging |
Het |
| Kif28 |
C |
A |
1: 179,733,111 (GRCm38) |
A210S |
possibly damaging |
Het |
| Klri2 |
T |
A |
6: 129,740,309 (GRCm38) |
Q37L |
probably damaging |
Het |
| Lrrc38 |
T |
A |
4: 143,369,849 (GRCm38) |
C243* |
probably null |
Het |
| Map3k5 |
T |
C |
10: 20,067,920 (GRCm38) |
V590A |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,763,306 (GRCm38) |
F5135L |
probably benign |
Het |
| Megf11 |
G |
A |
9: 64,660,431 (GRCm38) |
G401S |
possibly damaging |
Het |
| Mst1r |
T |
C |
9: 107,908,348 (GRCm38) |
F402L |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 78,198,852 (GRCm38) |
I759V |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,336,924 (GRCm38) |
|
probably benign |
Het |
| Olfr1243 |
C |
T |
2: 89,527,937 (GRCm38) |
V158I |
probably benign |
Het |
| Olfr870 |
T |
C |
9: 20,171,092 (GRCm38) |
S160G |
possibly damaging |
Het |
| Prl2a1 |
T |
A |
13: 27,806,386 (GRCm38) |
|
probably null |
Het |
| Serpina9 |
T |
A |
12: 103,998,264 (GRCm38) |
I305F |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,154,061 (GRCm38) |
1814 |
probably null |
Het |
| Slc19a1 |
C |
T |
10: 77,042,486 (GRCm38) |
T285I |
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,792,527 (GRCm38) |
T544A |
possibly damaging |
Het |
| Srgap3 |
A |
G |
6: 112,946,493 (GRCm38) |
S2P |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,837,901 (GRCm38) |
V210A |
possibly damaging |
Het |
| Tex261 |
A |
G |
6: 83,771,515 (GRCm38) |
I136T |
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,903,256 (GRCm38) |
F279L |
probably null |
Het |
| Ttc39b |
T |
C |
4: 83,232,762 (GRCm38) |
N532S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,742,094 (GRCm38) |
T26152A |
probably damaging |
Het |
| Ube2w |
A |
G |
1: 16,597,959 (GRCm38) |
S97P |
possibly damaging |
Het |
| Vmn1r25 |
A |
C |
6: 57,979,238 (GRCm38) |
L22R |
probably damaging |
Het |
| Vmn1r64 |
T |
C |
7: 5,884,449 (GRCm38) |
I32V |
probably benign |
Het |
| Vmn2r112 |
T |
G |
17: 22,601,233 (GRCm38) |
M29R |
possibly damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,624,093 (GRCm38) |
M705K |
probably benign |
Het |
| Vps13b |
G |
A |
15: 35,884,597 (GRCm38) |
V3139I |
probably benign |
Het |
| Zfp628 |
T |
C |
7: 4,920,831 (GRCm38) |
V684A |
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 |
|
|
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 |
|
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'- GCTCAGAGGCAGACTTAAGG -3'
(R):5'- TCTATGTACCAAGCACAGAGC -3'
Sequencing Primer
(F):5'- CTCAGAGGCAGACTTAAGGAACAC -3'
(R):5'- CGCAGATGATGTGTATATCATGGAC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation