Incidental Mutation 'R8178:Prdm2'
| ID |
634467 |
| 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 |
067603-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8178 (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 G
at 143132448 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1424
(I1424T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105778]
|
| AlphaFold |
A2A7B5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105778
AA Change: I1424T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: I1424T
| 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: 99.6%
- 20x: 99.0%
|
| Validation Efficiency |
99% (68/69) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
A |
G |
17: 79,628,270 |
I276V |
|
Het |
| Acsm5 |
C |
A |
7: 119,542,395 |
H538N |
probably damaging |
Het |
| Adamts17 |
A |
G |
7: 66,849,716 |
I4V |
possibly damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,035,047 |
V146A |
probably damaging |
Het |
| Ankrd52 |
T |
A |
10: 128,389,301 |
L877Q |
probably damaging |
Het |
| Aox3 |
A |
T |
1: 58,150,322 |
D394V |
possibly damaging |
Het |
| Arhgap45 |
G |
A |
10: 80,027,872 |
A819T |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,722,902 |
E413G |
unknown |
Het |
| Arhgef5 |
T |
C |
6: 43,275,185 |
S957P |
probably benign |
Het |
| Arsk |
G |
T |
13: 76,091,742 |
T114K |
probably damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,891,956 |
V406A |
probably damaging |
Het |
| Cbr3 |
C |
A |
16: 93,683,505 |
Q61K |
probably benign |
Het |
| Ccdc73 |
C |
T |
2: 104,991,212 |
S502L |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,048,932 |
|
probably null |
Het |
| Cep170b |
T |
A |
12: 112,739,285 |
M1159K |
possibly damaging |
Het |
| Cep295 |
A |
T |
9: 15,333,540 |
S1159T |
|
Het |
| Cit |
C |
T |
5: 115,969,072 |
R1088W |
probably damaging |
Het |
| Col16a1 |
A |
T |
4: 130,053,477 |
H205L |
unknown |
Het |
| Cpt1c |
T |
G |
7: 44,959,653 |
H748P |
probably damaging |
Het |
| Dcaf8 |
A |
T |
1: 172,186,319 |
D359V |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,755,026 |
Y277C |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,755,726 |
K898R |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,060,225 |
T3345S |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,598,817 |
N254Y |
probably damaging |
Het |
| F2 |
A |
T |
2: 91,630,273 |
|
probably null |
Het |
| Fam216b |
G |
C |
14: 78,085,064 |
H67D |
possibly damaging |
Het |
| Fbxl17 |
A |
C |
17: 63,487,972 |
|
probably null |
Het |
| Gas2 |
T |
A |
7: 51,897,278 |
M59K |
probably damaging |
Het |
| Glud1 |
G |
A |
14: 34,343,707 |
G554D |
probably damaging |
Het |
| Gm15448 |
T |
C |
7: 3,821,261 |
K631R |
unknown |
Het |
| Gm5483 |
T |
G |
16: 36,186,402 |
Y35* |
probably null |
Het |
| Gys2 |
C |
T |
6: 142,456,412 |
G234R |
probably damaging |
Het |
| Ifngr1 |
A |
G |
10: 19,609,493 |
I413M |
probably benign |
Het |
| Inpp5a |
C |
T |
7: 139,538,237 |
R236C |
probably damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,482,014 |
S32P |
probably benign |
Het |
| Lingo3 |
T |
A |
10: 80,834,630 |
T489S |
possibly damaging |
Het |
| Lrpprc |
A |
G |
17: 84,772,147 |
L227P |
probably damaging |
Het |
| Morn1 |
A |
G |
4: 155,128,703 |
Q356R |
probably benign |
Het |
| Naxd |
A |
C |
8: 11,511,987 |
K275Q |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,237,151 |
V684L |
probably benign |
Het |
| Nck1 |
A |
T |
9: 100,497,737 |
W154R |
probably damaging |
Het |
| Olfr1109 |
C |
T |
2: 87,092,876 |
V174M |
possibly damaging |
Het |
| Olfr51 |
T |
A |
11: 51,007,610 |
C213S |
probably damaging |
Het |
| Olfr869 |
T |
C |
9: 20,137,275 |
V53A |
possibly damaging |
Het |
| Olfr975 |
G |
A |
9: 39,950,412 |
R120C |
probably benign |
Het |
| Pdxk |
C |
T |
10: 78,453,504 |
V38M |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 |
|
probably benign |
Het |
| Pes1 |
T |
C |
11: 3,977,718 |
S482P |
probably benign |
Het |
| Pglyrp1 |
T |
A |
7: 18,884,732 |
F3I |
unknown |
Het |
| Plce1 |
T |
A |
19: 38,772,979 |
F2092I |
possibly damaging |
Het |
| Pms1 |
A |
G |
1: 53,207,346 |
S345P |
probably benign |
Het |
| Pom121l12 |
C |
A |
11: 14,600,011 |
P239H |
probably damaging |
Het |
| Prmt6 |
A |
G |
3: 110,250,824 |
Y50H |
probably damaging |
Het |
| Rbm39 |
T |
C |
2: 156,154,275 |
I397V |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,347,481 |
V519A |
possibly damaging |
Het |
| Sec23a |
T |
C |
12: 59,007,194 |
E6G |
possibly damaging |
Het |
| Shank1 |
T |
C |
7: 44,313,324 |
|
probably null |
Het |
| Slfn3 |
A |
G |
11: 83,214,679 |
I378V |
probably benign |
Het |
| Smn1 |
T |
A |
13: 100,130,795 |
|
probably null |
Het |
| Snd1 |
T |
C |
6: 28,874,976 |
F632S |
possibly damaging |
Het |
| Sun5 |
T |
C |
2: 153,856,211 |
|
probably null |
Het |
| Tial1 |
T |
C |
7: 128,444,890 |
R209G |
probably benign |
Het |
| Trhde |
T |
C |
10: 114,408,693 |
I963V |
possibly damaging |
Het |
| Tssc4 |
G |
T |
7: 143,070,195 |
R80L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,812,508 |
N13261K |
probably damaging |
Het |
| Ugdh |
A |
T |
5: 65,423,662 |
|
probably null |
Het |
| Vmn1r218 |
A |
T |
13: 23,137,302 |
E273V |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,166,726 |
F109Y |
possibly damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,931,398 |
S196G |
probably benign |
Het |
| Zfp788 |
T |
A |
7: 41,648,911 |
C324S |
probably damaging |
Het |
| Zfp976 |
T |
C |
7: 42,613,535 |
T294A |
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 |
|
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'- ACTTTTCTTTTGGAAGGAGAAAGGG -3'
(R):5'- CATCTTGGCGTGTGCATCTG -3'
Sequencing Primer
(F):5'- GTCACAGTAAGGGCAGAT -3'
(R):5'- AGTGCCGCTGAGACAGAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation