Incidental Mutation 'R7193:Prdm2'
ID |
559712 |
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 |
045334-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7193 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
143107391-143212995 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 143180894 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 36
(V36D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105778]
[ENSMUST00000134791]
[ENSMUST00000154280]
|
AlphaFold |
A2A7B5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105778
AA Change: V36D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101404 Gene: ENSMUSG00000057637 AA Change: V36D
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 |
probably damaging
Transcript: ENSMUST00000134791
AA Change: V36D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000116458 Gene: ENSMUSG00000057637 AA Change: V36D
Domain | Start | End | E-Value | Type |
SET
|
29 |
137 |
1.35e-19 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154280
AA Change: V36D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000117741 Gene: ENSMUSG00000057637 AA Change: V36D
Domain | Start | End | E-Value | Type |
SET
|
29 |
146 |
2.79e-21 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (60/60) |
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 |
2700049A03Rik |
A |
G |
12: 71,219,189 (GRCm38) |
|
probably null |
Het |
4930402H24Rik |
C |
A |
2: 130,806,788 (GRCm38) |
R258L |
unknown |
Het |
Abca16 |
T |
C |
7: 120,427,186 (GRCm38) |
S124P |
probably damaging |
Het |
Acan |
A |
T |
7: 79,086,342 (GRCm38) |
S179C |
probably damaging |
Het |
Atg2b |
A |
C |
12: 105,664,708 (GRCm38) |
H319Q |
probably damaging |
Het |
Bptf |
G |
A |
11: 107,054,809 (GRCm38) |
Q2535* |
probably null |
Het |
Brpf3 |
T |
C |
17: 28,836,691 (GRCm38) |
*1205R |
probably null |
Het |
Cabyr |
C |
A |
18: 12,751,758 (GRCm38) |
P434Q |
probably damaging |
Het |
Cacna1g |
C |
A |
11: 94,409,231 (GRCm38) |
D2268Y |
possibly damaging |
Het |
Ccng2 |
C |
G |
5: 93,273,343 (GRCm38) |
S237R |
probably benign |
Het |
Cct4 |
A |
G |
11: 22,997,111 (GRCm38) |
T201A |
probably benign |
Het |
Cdyl2 |
A |
C |
8: 116,623,994 (GRCm38) |
S133A |
probably benign |
Het |
Cep76 |
A |
G |
18: 67,641,134 (GRCm38) |
L14P |
possibly damaging |
Het |
Col4a3bp |
T |
A |
13: 96,630,833 (GRCm38) |
|
probably null |
Het |
Crybg3 |
A |
T |
16: 59,559,593 (GRCm38) |
S433T |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,538,497 (GRCm38) |
K574R |
probably damaging |
Het |
Cyp2u1 |
T |
C |
3: 131,291,143 (GRCm38) |
I527V |
probably benign |
Het |
E130309D02Rik |
A |
G |
5: 143,307,843 (GRCm38) |
V293A |
probably benign |
Het |
F5 |
A |
G |
1: 164,219,397 (GRCm38) |
N2142S |
probably damaging |
Het |
Fam50b |
G |
A |
13: 34,747,101 (GRCm38) |
E187K |
possibly damaging |
Het |
Flnc |
A |
G |
6: 29,450,871 (GRCm38) |
Y1506C |
probably damaging |
Het |
Foxred2 |
T |
A |
15: 77,952,030 (GRCm38) |
S376C |
probably damaging |
Het |
Gbe1 |
T |
C |
16: 70,495,370 (GRCm38) |
L530P |
probably damaging |
Het |
Gm8994 |
A |
T |
6: 136,329,215 (GRCm38) |
I225F |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,649,580 (GRCm38) |
R3398G |
probably null |
Het |
Igf1r |
T |
C |
7: 68,187,157 (GRCm38) |
L587P |
probably damaging |
Het |
Kcna3 |
T |
C |
3: 107,036,537 (GRCm38) |
Y39H |
probably benign |
Het |
Krtap5-2 |
GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA |
GCTACAGCCTCCCTTGCA |
7: 142,175,243 (GRCm38) |
|
probably benign |
Het |
Mbl1 |
T |
C |
14: 41,158,712 (GRCm38) |
F186L |
probably damaging |
Het |
Ncam2 |
A |
T |
16: 81,589,795 (GRCm38) |
K687N |
probably damaging |
Het |
Nedd4l |
T |
C |
18: 64,997,370 (GRCm38) |
V24A |
probably damaging |
Het |
Nek1 |
A |
G |
8: 61,073,578 (GRCm38) |
E661G |
probably damaging |
Het |
Nudt14 |
G |
T |
12: 112,939,320 (GRCm38) |
D28E |
probably benign |
Het |
Olfr1297 |
A |
T |
2: 111,621,255 (GRCm38) |
V273E |
probably damaging |
Het |
Olfr134 |
T |
A |
17: 38,175,096 (GRCm38) |
I4N |
probably benign |
Het |
Olfr344 |
T |
A |
2: 36,569,236 (GRCm38) |
C213S |
probably benign |
Het |
Olfr702 |
T |
C |
7: 106,824,591 (GRCm38) |
|
probably benign |
Het |
Pdk4 |
A |
T |
6: 5,487,089 (GRCm38) |
M319K |
probably benign |
Het |
Pfkp |
T |
C |
13: 6,593,216 (GRCm38) |
N522S |
probably benign |
Het |
Pias2 |
T |
C |
18: 77,120,121 (GRCm38) |
V234A |
possibly damaging |
Het |
Pik3c2b |
C |
A |
1: 133,079,774 (GRCm38) |
H625Q |
probably benign |
Het |
Pnpla7 |
T |
C |
2: 25,051,615 (GRCm38) |
S1117P |
probably damaging |
Het |
Prep |
C |
T |
10: 45,092,699 (GRCm38) |
R98C |
probably benign |
Het |
Rae1 |
T |
C |
2: 173,008,317 (GRCm38) |
|
probably null |
Het |
Rgs3 |
T |
A |
4: 62,615,336 (GRCm38) |
V138E |
probably damaging |
Het |
Rnf185 |
T |
C |
11: 3,425,329 (GRCm38) |
T142A |
possibly damaging |
Het |
Rsph6a |
C |
A |
7: 19,065,647 (GRCm38) |
P401Q |
probably damaging |
Het |
Runx3 |
A |
T |
4: 135,121,145 (GRCm38) |
T14S |
probably benign |
Het |
Scaf11 |
A |
G |
15: 96,419,161 (GRCm38) |
S841P |
probably damaging |
Het |
Spta1 |
T |
A |
1: 174,184,612 (GRCm38) |
L328Q |
probably damaging |
Het |
Sqor |
G |
A |
2: 122,804,009 (GRCm38) |
V318M |
probably damaging |
Het |
Stox2 |
T |
C |
8: 47,186,454 (GRCm38) |
T902A |
probably benign |
Het |
Susd3 |
T |
C |
13: 49,231,203 (GRCm38) |
H248R |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,233,406 (GRCm38) |
Y4133C |
probably damaging |
Het |
Tbc1d20 |
C |
T |
2: 152,311,417 (GRCm38) |
T289M |
probably benign |
Het |
Unc80 |
T |
A |
1: 66,549,784 (GRCm38) |
F1036Y |
possibly damaging |
Het |
Zbtb7c |
T |
C |
18: 76,137,938 (GRCm38) |
C366R |
probably damaging |
Het |
Zeb1 |
A |
T |
18: 5,772,756 (GRCm38) |
D1015V |
probably damaging |
Het |
Zfp606 |
T |
G |
7: 12,494,039 (GRCm38) |
S696A |
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 |
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'- GCAAGAGGAAGCTGGTTTCC -3'
(R):5'- CTCCAGGTTCAGTAGAGCAATG -3'
Sequencing Primer
(F):5'- GGAAGCTGGTTTCCTTTCTATAAC -3'
(R):5'- TTCAGTAGAGCAATGCAAAGC -3'
|
Posted On |
2019-06-26 |