Incidental Mutation 'R9547:Prdm2'
| ID |
720169 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9547 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143107391-143212995 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143134991 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 576
(S576R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105778]
|
| AlphaFold |
A2A7B5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105778
AA Change: S576R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: S576R
| 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: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
C |
T |
6: 88,838,935 (GRCm38) |
V185M |
probably damaging |
Het |
| Acod1 |
A |
T |
14: 103,054,858 (GRCm38) |
S273C |
probably benign |
Het |
| Aifm3 |
T |
C |
16: 17,499,740 (GRCm38) |
V75A |
probably benign |
Het |
| Anks1 |
T |
C |
17: 28,051,774 (GRCm38) |
L845P |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,312,258 (GRCm38) |
K736E |
possibly damaging |
Het |
| Atad2 |
A |
G |
15: 58,126,577 (GRCm38) |
S168P |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,782,796 (GRCm38) |
A143T |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,544,979 (GRCm38) |
H116L |
probably benign |
Het |
| Chd9 |
G |
A |
8: 90,956,558 (GRCm38) |
R542H |
unknown |
Het |
| Crnkl1 |
T |
C |
2: 145,930,630 (GRCm38) |
M176V |
possibly damaging |
Het |
| Dnah14 |
A |
C |
1: 181,593,427 (GRCm38) |
|
probably null |
Het |
| Dync1h1 |
A |
G |
12: 110,658,371 (GRCm38) |
E3744G |
probably damaging |
Het |
| Ednrb |
T |
C |
14: 103,843,023 (GRCm38) |
I152V |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,938,586 (GRCm38) |
L420M |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,999,846 (GRCm38) |
I1620N |
possibly damaging |
Het |
| Fbxo4 |
G |
A |
15: 3,969,011 (GRCm38) |
P322S |
probably damaging |
Het |
| Fbxw10 |
G |
T |
11: 62,876,821 (GRCm38) |
V828F |
possibly damaging |
Het |
| Gm7579 |
CTGTGTG |
CTGTG |
7: 142,211,999 (GRCm38) |
|
probably null |
Het |
| Gm8298 |
G |
T |
3: 59,865,235 (GRCm38) |
M53I |
probably benign |
Het |
| Gmip |
T |
C |
8: 69,820,731 (GRCm38) |
S891P |
possibly damaging |
Het |
| Grb10 |
A |
G |
11: 11,943,919 (GRCm38) |
I389T |
probably benign |
Het |
| Grip1 |
G |
A |
10: 120,038,664 (GRCm38) |
E778K |
possibly damaging |
Het |
| Hhatl |
A |
G |
9: 121,789,583 (GRCm38) |
Y118H |
probably damaging |
Het |
| Ighv1-69 |
A |
G |
12: 115,623,265 (GRCm38) |
F83L |
possibly damaging |
Het |
| Intu |
G |
A |
3: 40,654,106 (GRCm38) |
V183I |
probably benign |
Het |
| Ipo4 |
A |
G |
14: 55,633,332 (GRCm38) |
|
probably null |
Het |
| Kdm4c |
A |
C |
4: 74,404,867 (GRCm38) |
D1012A |
possibly damaging |
Het |
| Klrc2 |
C |
G |
6: 129,656,849 (GRCm38) |
A188P |
probably benign |
Het |
| Lipc |
T |
C |
9: 70,820,864 (GRCm38) |
D104G |
unknown |
Het |
| Lrrc63 |
A |
T |
14: 75,107,388 (GRCm38) |
L420M |
probably damaging |
Het |
| Ly75 |
C |
A |
2: 60,330,725 (GRCm38) |
|
probably null |
Het |
| Mrpl50 |
T |
A |
4: 49,514,338 (GRCm38) |
H111L |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,542,406 (GRCm38) |
I78T |
possibly damaging |
Het |
| Npepl1 |
A |
G |
2: 174,120,237 (GRCm38) |
D304G |
probably null |
Het |
| Nphs1 |
C |
T |
7: 30,481,450 (GRCm38) |
S1093F |
probably benign |
Het |
| Olfr136 |
G |
T |
17: 38,335,450 (GRCm38) |
V98F |
possibly damaging |
Het |
| Olfr195 |
T |
C |
16: 59,149,744 (GRCm38) |
I298T |
possibly damaging |
Het |
| Olfr938 |
G |
A |
9: 39,078,631 (GRCm38) |
T38I |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,755,057 (GRCm38) |
I603K |
possibly damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,655,106 (GRCm38) |
Y818N |
unknown |
Het |
| Phf10 |
A |
G |
17: 14,946,197 (GRCm38) |
|
probably null |
Het |
| Phgdh |
A |
G |
3: 98,334,634 (GRCm38) |
S55P |
probably damaging |
Het |
| Poll |
G |
T |
19: 45,557,920 (GRCm38) |
P227H |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,480,162 (GRCm38) |
I192V |
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 91,251,245 (GRCm38) |
D1038G |
probably benign |
Het |
| Snx18 |
A |
G |
13: 113,617,218 (GRCm38) |
M393T |
possibly damaging |
Het |
| Srsf11 |
A |
G |
3: 158,012,098 (GRCm38) |
C448R |
unknown |
Het |
| Sv2c |
A |
G |
13: 96,048,500 (GRCm38) |
I223T |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,173,607 (GRCm38) |
V43A |
possibly damaging |
Het |
| Tex21 |
T |
C |
12: 76,206,817 (GRCm38) |
T441A |
probably damaging |
Het |
| Thnsl2 |
T |
A |
6: 71,139,826 (GRCm38) |
D114V |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,912,633 (GRCm38) |
V1401A |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,158,762 (GRCm38) |
S769P |
probably benign |
Het |
| Uba5 |
A |
G |
9: 104,054,368 (GRCm38) |
S222P |
probably damaging |
Het |
| Ublcp1 |
T |
C |
11: 44,456,424 (GRCm38) |
Y290C |
probably damaging |
Het |
| Vmn1r216 |
A |
T |
13: 23,099,285 (GRCm38) |
D46V |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 54,659,700 (GRCm38) |
F789I |
probably damaging |
Het |
| Zcchc11 |
A |
G |
4: 108,513,232 (GRCm38) |
D776G |
probably benign |
Het |
| Zfp266 |
A |
G |
9: 20,500,450 (GRCm38) |
S144P |
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 |
|
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 |
|
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'- GGCAGTCCTCCGTTTCTTAGAC -3'
(R):5'- TGATTCCCAAAGGTGTCCG -3'
Sequencing Primer
(F):5'- CGTTTCTTAGACTCGCAATTTGTG -3'
(R):5'- TCCTAGAAGAGCCGCAGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation