Incidental Mutation 'R6166:Prdm2'
ID |
490135 |
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 |
044312-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6166 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
142833961-142939560 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 142861306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 661
(S661R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105778]
|
AlphaFold |
A2A7B5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105778
AA Change: S661R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101404 Gene: ENSMUSG00000057637 AA Change: S661R
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 |
0.1936 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
Validation Efficiency |
97% (57/59) |
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 |
Acot2 |
A |
T |
12: 84,039,378 (GRCm39) |
N296Y |
probably damaging |
Het |
Ago2 |
T |
A |
15: 72,996,089 (GRCm39) |
I347L |
probably benign |
Het |
Aldh1l2 |
C |
T |
10: 83,329,288 (GRCm39) |
|
probably null |
Het |
Ap1ar |
A |
G |
3: 127,606,177 (GRCm39) |
|
probably null |
Het |
Arap3 |
T |
C |
18: 38,107,423 (GRCm39) |
T1365A |
probably damaging |
Het |
Arhgef17 |
A |
T |
7: 100,525,699 (GRCm39) |
H1966Q |
probably damaging |
Het |
Arpp21 |
T |
C |
9: 111,948,266 (GRCm39) |
T668A |
probably benign |
Het |
Atg13 |
G |
T |
2: 91,506,736 (GRCm39) |
Q479K |
probably damaging |
Het |
Bmp8a |
T |
C |
4: 123,218,471 (GRCm39) |
T183A |
probably benign |
Het |
Camta2 |
G |
C |
11: 70,565,087 (GRCm39) |
|
probably null |
Het |
Catspere2 |
A |
G |
1: 177,931,403 (GRCm39) |
T441A |
unknown |
Het |
Ccdc40 |
T |
C |
11: 119,122,827 (GRCm39) |
S210P |
probably benign |
Het |
Cnn2 |
A |
G |
10: 79,824,561 (GRCm39) |
E17G |
possibly damaging |
Het |
Cnot6l |
T |
C |
5: 96,227,799 (GRCm39) |
D478G |
possibly damaging |
Het |
Cplane1 |
A |
G |
15: 8,216,044 (GRCm39) |
H478R |
probably benign |
Het |
Csf2rb |
A |
G |
15: 78,228,766 (GRCm39) |
Y369C |
probably damaging |
Het |
Dll4 |
A |
G |
2: 119,165,107 (GRCm39) |
|
probably null |
Het |
Efcab6 |
A |
G |
15: 83,780,316 (GRCm39) |
V1039A |
probably benign |
Het |
Fam117a |
T |
C |
11: 95,271,607 (GRCm39) |
M393T |
possibly damaging |
Het |
Fancd2 |
T |
A |
6: 113,532,212 (GRCm39) |
N508K |
possibly damaging |
Het |
Fat1 |
T |
C |
8: 45,405,522 (GRCm39) |
S758P |
probably damaging |
Het |
Fgf20 |
T |
C |
8: 40,732,881 (GRCm39) |
K186E |
probably damaging |
Het |
Filip1 |
T |
C |
9: 79,726,736 (GRCm39) |
K628E |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,811,071 (GRCm39) |
K2463N |
probably benign |
Het |
Gm15446 |
T |
A |
5: 110,090,646 (GRCm39) |
Y299* |
probably null |
Het |
Gm7363 |
A |
T |
7: 3,986,784 (GRCm39) |
|
noncoding transcript |
Het |
Gpx5 |
A |
T |
13: 21,473,435 (GRCm39) |
F104I |
probably damaging |
Het |
Grip1 |
A |
T |
10: 119,908,623 (GRCm39) |
I618F |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,259,274 (GRCm39) |
G1038D |
probably damaging |
Het |
Lgals9 |
C |
T |
11: 78,862,184 (GRCm39) |
A134T |
probably benign |
Het |
Lrba |
G |
A |
3: 86,261,614 (GRCm39) |
|
probably null |
Het |
Lypd10 |
A |
T |
7: 24,413,644 (GRCm39) |
Q220L |
probably benign |
Het |
Naprt |
T |
C |
15: 75,763,326 (GRCm39) |
Q439R |
possibly damaging |
Het |
Ndufs6 |
G |
A |
13: 73,466,060 (GRCm39) |
|
probably benign |
Het |
Nodal |
C |
A |
10: 61,260,337 (GRCm39) |
S329R |
probably damaging |
Het |
Olfm3 |
T |
A |
3: 114,916,074 (GRCm39) |
N315K |
probably damaging |
Het |
Or4k2 |
C |
T |
14: 50,424,225 (GRCm39) |
V150I |
probably benign |
Het |
Or6c3b |
A |
T |
10: 129,527,148 (GRCm39) |
I254K |
probably damaging |
Het |
Or6k2 |
A |
G |
1: 173,986,659 (GRCm39) |
T107A |
probably benign |
Het |
Plg |
T |
A |
17: 12,617,001 (GRCm39) |
V373E |
probably damaging |
Het |
Psg21 |
A |
T |
7: 18,390,664 (GRCm39) |
|
probably benign |
Het |
Rhobtb2 |
T |
C |
14: 70,035,627 (GRCm39) |
D148G |
probably damaging |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Scaf11 |
A |
T |
15: 96,322,543 (GRCm39) |
N116K |
probably damaging |
Het |
Sf3a3 |
T |
C |
4: 124,617,177 (GRCm39) |
|
probably benign |
Homo |
Slc38a9 |
T |
G |
13: 112,831,801 (GRCm39) |
Y184D |
possibly damaging |
Het |
Sowahc |
A |
G |
10: 59,058,182 (GRCm39) |
D106G |
probably benign |
Het |
Srbd1 |
T |
C |
17: 86,406,696 (GRCm39) |
Y563C |
probably damaging |
Het |
Src |
A |
G |
2: 157,310,442 (GRCm39) |
Y359C |
probably damaging |
Het |
Tbc1d9b |
A |
G |
11: 50,026,673 (GRCm39) |
D47G |
probably damaging |
Het |
Tctn3 |
T |
C |
19: 40,585,923 (GRCm39) |
K541E |
possibly damaging |
Het |
Tgm7 |
A |
G |
2: 120,929,539 (GRCm39) |
V245A |
probably damaging |
Het |
Thbs2 |
C |
T |
17: 14,900,650 (GRCm39) |
R519H |
probably damaging |
Het |
Tm4sf19 |
T |
C |
16: 32,226,681 (GRCm39) |
S157P |
probably damaging |
Het |
Trio |
C |
T |
15: 27,818,157 (GRCm39) |
S507N |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,718,791 (GRCm39) |
H152Q |
possibly damaging |
Het |
Vmn2r56 |
A |
G |
7: 12,427,947 (GRCm39) |
L773P |
probably damaging |
Het |
Vmn2r70 |
A |
G |
7: 85,215,189 (GRCm39) |
L115P |
probably benign |
Het |
Wdr59 |
C |
T |
8: 112,199,293 (GRCm39) |
R631H |
probably 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 |
R6223:Prdm2
|
UTSW |
4 |
142,868,777 (GRCm39) |
missense |
probably benign |
0.41 |
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'- AGTCACAGCTAACATGGATGCAG -3'
(R):5'- GCATAGACTGTCTGCTCACTCC -3'
Sequencing Primer
(F):5'- CAGGAGCAGATACACACACGG -3'
(R):5'- TGCTCACTCCAGTAACTGTAGAG -3'
|
Posted On |
2017-10-10 |