Incidental Mutation 'R0658:Prdm2'
| ID |
62605 |
| 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 |
038843-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0658 (G1)
|
| Quality Score |
176 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143107391-143212995 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143135265 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 485
(V485A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105778]
|
| AlphaFold |
A2A7B5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105778
AA Change: V485A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: V485A
| 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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
99% (78/79) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
C |
T |
5: 100,817,961 (GRCm38) |
|
probably null |
Het |
| Acsl3 |
A |
G |
1: 78,701,287 (GRCm38) |
D520G |
probably damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,648,713 (GRCm38) |
V623A |
probably benign |
Het |
| Ak9 |
G |
T |
10: 41,347,222 (GRCm38) |
V454L |
probably damaging |
Het |
| Alpk2 |
C |
A |
18: 65,349,487 (GRCm38) |
K483N |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,981,985 (GRCm38) |
Y974C |
probably damaging |
Het |
| Armc8 |
C |
T |
9: 99,536,158 (GRCm38) |
|
probably benign |
Het |
| Atp2a2 |
C |
T |
5: 122,457,633 (GRCm38) |
|
probably benign |
Het |
| Atrn |
T |
C |
2: 130,970,227 (GRCm38) |
|
probably null |
Het |
| Caps2 |
T |
A |
10: 112,204,038 (GRCm38) |
|
probably benign |
Het |
| Cep76 |
A |
G |
18: 67,623,304 (GRCm38) |
S486P |
probably damaging |
Het |
| Cep97 |
C |
T |
16: 55,914,902 (GRCm38) |
R583H |
probably benign |
Het |
| Cog7 |
A |
G |
7: 121,956,140 (GRCm38) |
|
probably benign |
Het |
| Commd5 |
T |
A |
15: 76,900,568 (GRCm38) |
V55E |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 48,011,147 (GRCm38) |
D684E |
possibly damaging |
Het |
| Ctxn2 |
T |
C |
2: 125,147,456 (GRCm38) |
M1T |
probably null |
Het |
| Exph5 |
A |
G |
9: 53,377,475 (GRCm38) |
D1952G |
unknown |
Het |
| Fmo2 |
A |
T |
1: 162,876,774 (GRCm38) |
L521Q |
possibly damaging |
Het |
| Fryl |
T |
A |
5: 73,065,359 (GRCm38) |
T1960S |
probably damaging |
Het |
| G6pd2 |
T |
C |
5: 61,809,674 (GRCm38) |
L264P |
probably damaging |
Het |
| Gm1966 |
C |
A |
7: 106,602,886 (GRCm38) |
V384L |
possibly damaging |
Het |
| Gne |
A |
T |
4: 44,039,033 (GRCm38) |
V647E |
possibly damaging |
Het |
| Grb14 |
G |
A |
2: 64,914,727 (GRCm38) |
Q96* |
probably null |
Het |
| Gtf3c1 |
A |
G |
7: 125,698,962 (GRCm38) |
F146L |
probably damaging |
Het |
| Irak2 |
A |
G |
6: 113,638,564 (GRCm38) |
Y6C |
probably damaging |
Het |
| Kel |
T |
A |
6: 41,703,031 (GRCm38) |
N75I |
probably damaging |
Het |
| Lgr4 |
T |
A |
2: 110,011,787 (GRCm38) |
F706I |
possibly damaging |
Het |
| Lox |
A |
T |
18: 52,528,883 (GRCm38) |
S149R |
probably benign |
Het |
| Lrrc66 |
T |
G |
5: 73,610,944 (GRCm38) |
D218A |
probably benign |
Het |
| Luc7l |
C |
T |
17: 26,266,322 (GRCm38) |
R99W |
probably damaging |
Het |
| Megf10 |
T |
C |
18: 57,252,896 (GRCm38) |
V327A |
probably benign |
Het |
| Mthfd1l |
G |
T |
10: 4,047,976 (GRCm38) |
|
probably null |
Het |
| Myh11 |
C |
A |
16: 14,224,019 (GRCm38) |
Q720H |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,284,532 (GRCm38) |
|
probably null |
Het |
| Olfr1463 |
A |
T |
19: 13,235,060 (GRCm38) |
D270V |
possibly damaging |
Het |
| Pdia3 |
G |
A |
2: 121,432,377 (GRCm38) |
G275S |
probably damaging |
Het |
| Pgf |
C |
T |
12: 85,169,385 (GRCm38) |
R153K |
probably benign |
Het |
| Pramef8 |
A |
T |
4: 143,417,600 (GRCm38) |
Q172L |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,642,683 (GRCm38) |
T705A |
probably damaging |
Het |
| Rflna |
A |
C |
5: 125,003,710 (GRCm38) |
D48A |
possibly damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,457 (GRCm38) |
I180N |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,706,475 (GRCm38) |
S94T |
probably damaging |
Het |
| Scn11a |
G |
A |
9: 119,811,160 (GRCm38) |
T223I |
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,837,120 (GRCm38) |
|
probably benign |
Het |
| Sept14 |
T |
C |
5: 129,697,908 (GRCm38) |
I68V |
probably benign |
Het |
| Sil1 |
A |
T |
18: 35,266,857 (GRCm38) |
L365Q |
possibly damaging |
Het |
| Sirt1 |
A |
G |
10: 63,321,736 (GRCm38) |
|
probably benign |
Het |
| Slc9a1 |
T |
C |
4: 133,420,499 (GRCm38) |
|
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,811,240 (GRCm38) |
T355A |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,094,336 (GRCm38) |
I6074T |
probably damaging |
Het |
| Thbs2 |
T |
A |
17: 14,680,325 (GRCm38) |
H540L |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,768,021 (GRCm38) |
S450P |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,538,226 (GRCm38) |
S54* |
probably null |
Het |
| Ubxn4 |
G |
A |
1: 128,262,904 (GRCm38) |
E256K |
probably benign |
Het |
| Uncx |
G |
T |
5: 139,544,187 (GRCm38) |
C65F |
probably damaging |
Het |
| Vmn1r87 |
A |
T |
7: 13,131,829 (GRCm38) |
M177K |
probably damaging |
Het |
| Vmn2r56 |
A |
T |
7: 12,710,308 (GRCm38) |
C466S |
probably benign |
Het |
| Wnk1 |
G |
A |
6: 119,948,505 (GRCm38) |
P1831S |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 21,818,920 (GRCm38) |
S476G |
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 |
|
|
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 |
|
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'- GATATACACATCATCTGCGTCCCCG -3'
(R):5'- AAGAGAAGACCCAGCATGGCATTAC -3'
Sequencing Primer
(F):5'- GTCCTCCTCGGGCTCTG -3'
(R):5'- TGGCATTACAATCCTCAGAGGAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation