Incidental Mutation 'R8732:Prdm2'
| ID |
662792 |
| 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 |
068580-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8732 (G1)
|
| Quality Score |
158.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143107391-143212995 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 143136010 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 237
(Q237K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105778]
|
| AlphaFold |
A2A7B5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105778
AA Change: Q237K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: Q237K
| 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: 99.3%
- 20x: 97.0%
|
| Validation Efficiency |
98% (63/64) |
| 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 |
|---|
| Adtrp |
A |
T |
13: 41,828,146 (GRCm38) |
N82K |
probably damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,628,906 (GRCm38) |
S57T |
possibly damaging |
Het |
| Aoc3 |
A |
G |
11: 101,331,817 (GRCm38) |
N293S |
probably benign |
Het |
| Aup1 |
A |
T |
6: 83,056,621 (GRCm38) |
H302L |
probably damaging |
Het |
| Bptf |
G |
A |
11: 107,040,380 (GRCm38) |
R277W |
probably damaging |
Het |
| Cald1 |
A |
G |
6: 34,758,011 (GRCm38) |
I346V |
unknown |
Het |
| Cd44 |
T |
C |
2: 102,834,300 (GRCm38) |
T519A |
possibly damaging |
Het |
| Cela1 |
A |
G |
15: 100,682,885 (GRCm38) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 104,962,563 (GRCm38) |
V57A |
possibly damaging |
Het |
| Cpt1b |
G |
C |
15: 89,424,425 (GRCm38) |
T100S |
probably benign |
Het |
| D6Wsu163e |
A |
T |
6: 126,955,896 (GRCm38) |
I361F |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 67,846,000 (GRCm38) |
D153E |
possibly damaging |
Het |
| Dync2h1 |
G |
T |
9: 7,168,326 (GRCm38) |
R430S |
probably damaging |
Het |
| Eml5 |
C |
T |
12: 98,815,959 (GRCm38) |
G1405R |
probably damaging |
Het |
| Ergic2 |
G |
A |
6: 148,201,477 (GRCm38) |
A91V |
probably damaging |
Het |
| Fancl |
A |
T |
11: 26,469,754 (GRCm38) |
I336L |
probably benign |
Het |
| Fpr3 |
A |
G |
17: 17,970,961 (GRCm38) |
T165A |
possibly damaging |
Het |
| Gm11639 |
T |
A |
11: 104,804,274 (GRCm38) |
F1730L |
probably benign |
Het |
| Gon4l |
A |
G |
3: 88,899,984 (GRCm38) |
I1662V |
possibly damaging |
Het |
| Gpr153 |
C |
T |
4: 152,279,101 (GRCm38) |
|
probably benign |
Het |
| Hdac4 |
C |
A |
1: 91,947,517 (GRCm38) |
A911S |
probably damaging |
Het |
| Ighd |
T |
C |
12: 113,414,563 (GRCm38) |
N139D |
|
Het |
| Klhl22 |
T |
A |
16: 17,771,826 (GRCm38) |
L117Q |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,790,117 (GRCm38) |
S1226G |
probably benign |
Het |
| Lama5 |
A |
T |
2: 180,186,688 (GRCm38) |
C2126S |
probably damaging |
Het |
| Ldlr |
A |
G |
9: 21,739,689 (GRCm38) |
I468V |
probably benign |
Het |
| Lmtk3 |
G |
A |
7: 45,798,288 (GRCm38) |
A1253T |
unknown |
Het |
| Lta |
T |
A |
17: 35,204,069 (GRCm38) |
N93Y |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,509,770 (GRCm38) |
|
probably null |
Het |
| Mink1 |
A |
G |
11: 70,610,076 (GRCm38) |
|
probably null |
Het |
| Myl10 |
G |
C |
5: 136,697,971 (GRCm38) |
V70L |
probably benign |
Het |
| Ntpcr |
A |
G |
8: 125,745,335 (GRCm38) |
M132V |
probably benign |
Het |
| Olfr298 |
A |
G |
7: 86,488,853 (GRCm38) |
S233P |
probably damaging |
Het |
| Olfr664 |
A |
G |
7: 104,733,908 (GRCm38) |
M152T |
probably benign |
Het |
| Olfr851 |
T |
C |
9: 19,496,802 (GRCm38) |
I18T |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,933,279 (GRCm38) |
I357V |
probably benign |
Het |
| Pax7 |
G |
T |
4: 139,779,609 (GRCm38) |
H372Q |
probably benign |
Het |
| Paxip1 |
A |
G |
5: 27,744,543 (GRCm38) |
Y966H |
probably damaging |
Het |
| Pde4b |
A |
C |
4: 102,555,625 (GRCm38) |
D199A |
probably null |
Het |
| Pkd1l2 |
T |
C |
8: 117,065,572 (GRCm38) |
N494D |
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,120,405 (GRCm38) |
L1091P |
probably damaging |
Het |
| Rab9 |
C |
T |
X: 166,457,758 (GRCm38) |
D186N |
probably benign |
Het |
| Rassf5 |
A |
G |
1: 131,178,527 (GRCm38) |
*414Q |
probably null |
Het |
| Repin1 |
G |
T |
6: 48,597,345 (GRCm38) |
E403* |
probably null |
Het |
| Rrp9 |
C |
A |
9: 106,483,189 (GRCm38) |
T238K |
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,348,586 (GRCm38) |
D630G |
probably benign |
Het |
| Slc7a9 |
A |
G |
7: 35,457,018 (GRCm38) |
D295G |
probably benign |
Het |
| Slco3a1 |
A |
T |
7: 74,284,306 (GRCm38) |
M706K |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 94,071,688 (GRCm38) |
|
probably null |
Het |
| Stam2 |
A |
T |
2: 52,700,168 (GRCm38) |
Y394N |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,679,961 (GRCm38) |
L341P |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,243,894 (GRCm38) |
H160Q |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,241,447 (GRCm38) |
C334S |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,829,051 (GRCm38) |
A702G |
possibly damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,160,856 (GRCm38) |
|
probably null |
Het |
| Tmem74 |
A |
T |
15: 43,868,060 (GRCm38) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,797,391 (GRCm38) |
N14736I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,707,136 (GRCm38) |
K34816R |
possibly damaging |
Het |
| Vmn1r183 |
A |
G |
7: 24,055,465 (GRCm38) |
Q231R |
possibly damaging |
Het |
| Vmn1r235 |
A |
G |
17: 21,262,177 (GRCm38) |
T255A |
probably damaging |
Het |
| Wasl |
A |
T |
6: 24,619,210 (GRCm38) |
I437K |
unknown |
Het |
| Wdr34 |
T |
A |
2: 30,032,208 (GRCm38) |
T414S |
possibly damaging |
Het |
| Ywhae |
A |
G |
11: 75,751,943 (GRCm38) |
N43D |
probably damaging |
Het |
| Zfp583 |
A |
T |
7: 6,317,211 (GRCm38) |
Y267* |
probably null |
Het |
| Zfp608 |
C |
T |
18: 54,988,000 (GRCm38) |
G172R |
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 |
|
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 |
|
|
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'- GAGCTTTCATTCGGCATGTCTG -3'
(R):5'- GATTTGCACCCAGCTCAAC -3'
Sequencing Primer
(F):5'- GCATGTCTGCTTCTTCCTCC -3'
(R):5'- GTTCACATATCTTAGCAGCTTCTAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation