Incidental Mutation 'R7292:Prdm2'
ID |
566477 |
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 |
045397-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7292 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
142833961-142939560 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 142859471 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 1273
(T1273M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105778]
|
AlphaFold |
A2A7B5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105778
AA Change: T1273M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101404 Gene: ENSMUSG00000057637 AA Change: T1273M
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (66/66) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
A |
17: 9,215,861 (GRCm39) |
C322* |
probably null |
Het |
4930553M12Rik |
G |
A |
4: 88,786,568 (GRCm39) |
R17C |
unknown |
Het |
Abcc8 |
G |
A |
7: 45,784,950 (GRCm39) |
T726I |
probably benign |
Het |
Adamts18 |
T |
C |
8: 114,436,277 (GRCm39) |
T981A |
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,570,957 (GRCm39) |
C507R |
probably damaging |
Het |
Bloc1s6 |
T |
A |
2: 122,584,615 (GRCm39) |
D63E |
probably damaging |
Het |
Cdc25b |
C |
T |
2: 131,033,093 (GRCm39) |
R135W |
probably damaging |
Het |
Cdca2 |
G |
T |
14: 67,915,326 (GRCm39) |
Y644* |
probably null |
Het |
Ceacam10 |
G |
T |
7: 24,477,775 (GRCm39) |
G97C |
probably damaging |
Het |
Cenpf |
G |
A |
1: 189,382,891 (GRCm39) |
L2668F |
probably damaging |
Het |
Cog4 |
A |
G |
8: 111,608,460 (GRCm39) |
D774G |
probably damaging |
Het |
Col11a2 |
G |
A |
17: 34,270,482 (GRCm39) |
G511E |
unknown |
Het |
Col19a1 |
T |
A |
1: 24,569,089 (GRCm39) |
I220F |
unknown |
Het |
Cubn |
G |
T |
2: 13,429,550 (GRCm39) |
T1317K |
probably damaging |
Het |
Dnaaf5 |
T |
C |
5: 139,136,072 (GRCm39) |
L24P |
unknown |
Het |
Eif4a3l2 |
G |
A |
6: 116,528,438 (GRCm39) |
R105Q |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Foxn4 |
C |
A |
5: 114,396,716 (GRCm39) |
E256* |
probably null |
Het |
Gm5930 |
A |
G |
14: 44,574,014 (GRCm39) |
S108P |
probably damaging |
Het |
Gnl3 |
A |
G |
14: 30,735,189 (GRCm39) |
S468P |
probably benign |
Het |
Gzmb |
A |
T |
14: 56,499,576 (GRCm39) |
S11T |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,608,880 (GRCm39) |
|
probably null |
Het |
Ifi206 |
A |
G |
1: 173,301,428 (GRCm39) |
L750P |
unknown |
Het |
Ifi213 |
T |
A |
1: 173,422,691 (GRCm39) |
E58V |
probably damaging |
Het |
Igkv4-78 |
A |
T |
6: 69,036,752 (GRCm39) |
Y94N |
probably damaging |
Het |
Igsf9 |
G |
T |
1: 172,319,324 (GRCm39) |
|
probably null |
Het |
Itpr2 |
G |
T |
6: 146,060,447 (GRCm39) |
L2490M |
possibly damaging |
Het |
Kdm2b |
A |
G |
5: 123,018,854 (GRCm39) |
F862S |
probably damaging |
Het |
Kif19b |
A |
G |
5: 140,457,425 (GRCm39) |
D398G |
probably benign |
Het |
Meis1 |
A |
G |
11: 18,961,351 (GRCm39) |
I174T |
probably damaging |
Het |
Micu3 |
A |
G |
8: 40,835,166 (GRCm39) |
Q507R |
probably benign |
Het |
Mpp4 |
C |
T |
1: 59,182,969 (GRCm39) |
E313K |
possibly damaging |
Het |
Nfatc4 |
G |
A |
14: 56,062,512 (GRCm39) |
E7K |
probably damaging |
Het |
Or7g16 |
A |
T |
9: 18,727,486 (GRCm39) |
Y35N |
probably damaging |
Het |
Or9s18 |
T |
A |
13: 65,300,656 (GRCm39) |
V206D |
possibly damaging |
Het |
Osbpl5 |
G |
A |
7: 143,255,015 (GRCm39) |
P470S |
probably damaging |
Het |
Pak6 |
A |
G |
2: 118,524,072 (GRCm39) |
D409G |
possibly damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,361,986 (GRCm39) |
M553K |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 101,089,871 (GRCm39) |
N151D |
probably damaging |
Het |
Prdm12 |
T |
C |
2: 31,533,862 (GRCm39) |
W160R |
probably damaging |
Het |
Prl2a1 |
A |
G |
13: 27,991,353 (GRCm39) |
|
probably null |
Het |
Prob1 |
G |
A |
18: 35,787,603 (GRCm39) |
P217L |
possibly damaging |
Het |
Ramp1 |
A |
C |
1: 91,124,499 (GRCm39) |
H20P |
probably benign |
Het |
Rbm47 |
T |
A |
5: 66,184,093 (GRCm39) |
E170V |
possibly damaging |
Het |
Relch |
G |
T |
1: 105,649,141 (GRCm39) |
|
probably null |
Het |
Rpn1 |
C |
T |
6: 88,067,066 (GRCm39) |
P142L |
probably damaging |
Het |
Rsu1 |
C |
T |
2: 13,174,827 (GRCm39) |
R238H |
probably damaging |
Het |
Sh3rf3 |
C |
T |
10: 58,907,795 (GRCm39) |
P441L |
probably damaging |
Het |
Slc1a6 |
A |
G |
10: 78,650,438 (GRCm39) |
S559G |
possibly damaging |
Het |
Slc35f5 |
C |
A |
1: 125,500,222 (GRCm39) |
S245R |
probably damaging |
Het |
Spcs3 |
T |
C |
8: 54,979,554 (GRCm39) |
N76D |
probably benign |
Het |
Spmip5 |
A |
T |
19: 58,777,539 (GRCm39) |
Y90* |
probably null |
Het |
Svep1 |
T |
C |
4: 58,111,395 (GRCm39) |
T1075A |
possibly damaging |
Het |
Sympk |
A |
T |
7: 18,769,955 (GRCm39) |
I211F |
probably benign |
Het |
Tk1 |
C |
T |
11: 117,716,603 (GRCm39) |
M1I |
probably null |
Het |
Tln2 |
A |
G |
9: 67,253,743 (GRCm39) |
V776A |
probably benign |
Het |
Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
Tnk2 |
T |
C |
16: 32,499,618 (GRCm39) |
V977A |
probably benign |
Het |
Toporsl |
A |
T |
4: 52,611,630 (GRCm39) |
S508C |
probably benign |
Het |
Trank1 |
A |
C |
9: 111,206,938 (GRCm39) |
R1690S |
probably benign |
Het |
Trio |
T |
A |
15: 27,828,437 (GRCm39) |
Q1409L |
possibly damaging |
Het |
Vit |
T |
C |
17: 78,912,927 (GRCm39) |
F287L |
probably benign |
Het |
Vmn2r109 |
G |
C |
17: 20,761,700 (GRCm39) |
D552E |
probably benign |
Het |
Zw10 |
T |
C |
9: 48,972,491 (GRCm39) |
V186A |
probably benign |
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 |
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 |
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'- CACGCCAAGATGTGCTTATG -3'
(R):5'- ACCACGAGTTTGAAAGTGGG -3'
Sequencing Primer
(F):5'- TGCAGCTCAGGCATGTTATCAAC -3'
(R):5'- CGAGTTTGAAAGTGGGACCCTG -3'
|
Posted On |
2019-06-26 |