Incidental Mutation 'R6223:Prdm2'
ID |
504132 |
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 |
044354-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6223 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
142833961-142939560 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142868777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 179
(N179S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105778]
|
AlphaFold |
A2A7B5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105778
AA Change: N179S
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000101404 Gene: ENSMUSG00000057637 AA Change: N179S
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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
C |
2: 152,269,873 (GRCm39) |
R8S |
probably benign |
Het |
Abca8b |
A |
G |
11: 109,868,672 (GRCm39) |
V164A |
probably benign |
Het |
Acadm |
C |
A |
3: 153,644,186 (GRCm39) |
|
probably null |
Het |
Ap3b2 |
G |
A |
7: 81,123,210 (GRCm39) |
R435* |
probably null |
Het |
Art2b |
A |
G |
7: 101,229,158 (GRCm39) |
F247S |
possibly damaging |
Het |
C1rb |
T |
A |
6: 124,551,539 (GRCm39) |
D216E |
probably benign |
Het |
Casz1 |
C |
A |
4: 149,017,840 (GRCm39) |
D90E |
probably damaging |
Het |
Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
Cdc25a |
C |
A |
9: 109,718,842 (GRCm39) |
P409T |
possibly damaging |
Het |
Cidea |
A |
C |
18: 67,491,809 (GRCm39) |
K23T |
possibly damaging |
Het |
Clspn |
T |
A |
4: 126,479,961 (GRCm39) |
D1101E |
probably damaging |
Het |
Col10a1 |
A |
T |
10: 34,271,183 (GRCm39) |
D385V |
probably damaging |
Het |
Crat |
C |
T |
2: 30,297,042 (GRCm39) |
V304I |
probably benign |
Het |
Cyp2d26 |
A |
T |
15: 82,675,918 (GRCm39) |
W265R |
probably benign |
Het |
Dock8 |
A |
T |
19: 25,138,416 (GRCm39) |
Y1247F |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,221,078 (GRCm39) |
D11G |
possibly damaging |
Het |
Eed |
A |
G |
7: 89,605,495 (GRCm39) |
Y365H |
probably damaging |
Het |
Fabp5 |
T |
A |
3: 10,080,170 (GRCm39) |
F73L |
probably benign |
Het |
Fbn1 |
C |
T |
2: 125,254,591 (GRCm39) |
C224Y |
possibly damaging |
Het |
Ggcx |
T |
C |
6: 72,406,588 (GRCm39) |
F684L |
probably damaging |
Het |
Glrp1 |
G |
A |
1: 88,431,164 (GRCm39) |
Q69* |
probably null |
Het |
Gm29797 |
T |
C |
2: 181,300,850 (GRCm39) |
V115A |
possibly damaging |
Het |
Gtf3c1 |
C |
T |
7: 125,275,797 (GRCm39) |
R543K |
probably benign |
Het |
Ifih1 |
T |
C |
2: 62,428,603 (GRCm39) |
I891V |
probably benign |
Het |
Ifnar2 |
C |
T |
16: 91,184,876 (GRCm39) |
T89M |
probably damaging |
Het |
Kat6a |
C |
A |
8: 23,430,442 (GRCm39) |
N1932K |
unknown |
Het |
Mgat5 |
A |
T |
1: 127,310,716 (GRCm39) |
D210V |
possibly damaging |
Het |
Mmel1 |
A |
G |
4: 154,956,159 (GRCm39) |
|
probably null |
Het |
Myh3 |
G |
T |
11: 66,988,843 (GRCm39) |
V1499L |
probably benign |
Het |
Ncan |
A |
C |
8: 70,562,604 (GRCm39) |
D551E |
probably benign |
Het |
Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
Olfml3 |
G |
A |
3: 103,643,776 (GRCm39) |
R202W |
probably damaging |
Het |
Or2w4 |
G |
A |
13: 21,795,536 (GRCm39) |
T201I |
probably benign |
Het |
Or4e2 |
A |
G |
14: 52,688,136 (GRCm39) |
R89G |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 93,253,169 (GRCm39) |
K1131E |
probably benign |
Het |
Pcolce |
A |
G |
5: 137,603,561 (GRCm39) |
M424T |
probably damaging |
Het |
Pi16 |
C |
A |
17: 29,546,413 (GRCm39) |
S397* |
probably null |
Het |
Pi4ka |
A |
T |
16: 17,175,435 (GRCm39) |
Y464* |
probably null |
Het |
Pik3c2b |
T |
A |
1: 132,998,095 (GRCm39) |
L324M |
probably damaging |
Het |
Prss56 |
C |
T |
1: 87,113,134 (GRCm39) |
P183S |
probably benign |
Het |
Prx |
T |
G |
7: 27,216,261 (GRCm39) |
M393R |
probably damaging |
Het |
Qpctl |
T |
C |
7: 18,877,134 (GRCm39) |
D328G |
probably damaging |
Het |
Qser1 |
A |
G |
2: 104,617,993 (GRCm39) |
S940P |
probably benign |
Het |
Rchy1 |
G |
A |
5: 92,105,826 (GRCm39) |
R41W |
probably damaging |
Het |
Scp2d1 |
T |
C |
2: 144,665,868 (GRCm39) |
I69T |
possibly damaging |
Het |
Sirpb1a |
A |
G |
3: 15,444,086 (GRCm39) |
V388A |
probably benign |
Het |
Ssu2 |
G |
T |
6: 112,353,409 (GRCm39) |
C238* |
probably null |
Het |
Stub1 |
C |
T |
17: 26,051,787 (GRCm39) |
G14D |
probably damaging |
Het |
Tab1 |
T |
A |
15: 80,032,464 (GRCm39) |
C24S |
probably damaging |
Het |
Tdrd1 |
T |
C |
19: 56,854,282 (GRCm39) |
V1076A |
probably damaging |
Het |
Tex10 |
T |
C |
4: 48,468,525 (GRCm39) |
R134G |
probably damaging |
Het |
Tg |
T |
A |
15: 66,579,771 (GRCm39) |
N1525K |
probably benign |
Het |
Tll2 |
G |
A |
19: 41,124,391 (GRCm39) |
T208I |
possibly damaging |
Het |
Tmem232 |
T |
C |
17: 65,807,191 (GRCm39) |
M1V |
probably null |
Het |
Ttc7b |
A |
G |
12: 100,353,368 (GRCm39) |
|
probably null |
Het |
Ubb |
A |
G |
11: 62,443,351 (GRCm39) |
E127G |
possibly damaging |
Het |
Ulk2 |
A |
T |
11: 61,678,330 (GRCm39) |
Y796* |
probably null |
Het |
Vdac2 |
G |
A |
14: 21,895,246 (GRCm39) |
G265R |
possibly damaging |
Het |
Vmn2r45 |
A |
T |
7: 8,486,301 (GRCm39) |
V329E |
probably benign |
Het |
Zbtb47 |
G |
A |
9: 121,592,853 (GRCm39) |
R391Q |
possibly damaging |
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 |
R3944:Prdm2
|
UTSW |
4 |
142,858,385 (GRCm39) |
missense |
possibly damaging |
0.53 |
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 |
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'- GGAGAATACTTTCATTCTGAAGAGG -3'
(R):5'- TGCAGGACCTACGAGCTTTG -3'
Sequencing Primer
(F):5'- CTTTCATTCTGAAGAGGAAGTAGGG -3'
(R):5'- CAGTCTACTTTGCTTGGG -3'
|
Posted On |
2018-02-28 |