Mutagenetix > Incidental Mutation

Incidental Mutation 'R6631:Prdm2'

525108

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

044753-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6631 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143107391-143212995 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 143134884 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 612 (Q612P)

Ref Sequence

ENSEMBL: ENSMUSP00000101404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105778]

AlphaFold

A2A7B5

Predicted Effect

probably benign
Transcript: ENSMUST00000105778
AA Change: Q612P

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: Q612P

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

0.1476

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

96% (50/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	T	9: 15,292,030 (GRCm38)	N159K	probably damaging	Het
Arhgef10l	T	C	4: 140,517,747 (GRCm38)		probably benign	Het
Avil	A	G	10: 127,007,749 (GRCm38)	S153G	possibly damaging	Het
C2cd3	G	A	7: 100,418,540 (GRCm38)	D877N	probably damaging	Het
Clca3a2	G	A	3: 144,813,644 (GRCm38)	A257V	probably benign	Het
Cramp1l	T	A	17: 24,983,957 (GRCm38)	H366L	probably benign	Het
Cyp2c37	C	T	19: 40,009,843 (GRCm38)	S393L	probably damaging	Het
Defb8	T	A	8: 19,445,934 (GRCm38)	I37L	probably benign	Het
Dennd4b	C	A	3: 90,277,732 (GRCm38)		probably null	Het
Eps8l2	G	A	7: 141,356,202 (GRCm38)	R223H	probably damaging	Het
Erbin	A	G	13: 103,824,892 (GRCm38)	L1302P	probably benign	Het
Exoc3l	A	G	8: 105,295,361 (GRCm38)	W37R	probably damaging	Het
Fam214a	A	G	9: 74,953,825 (GRCm38)	D4G	possibly damaging	Het
Fap	T	C	2: 62,503,381 (GRCm38)	N668S	probably damaging	Het
Gas7	A	G	11: 67,674,281 (GRCm38)	N250S	probably damaging	Het
Hist1h2bk	T	A	13: 22,036,221 (GRCm38)	V112E	probably damaging	Het
Hivep1	C	A	13: 42,156,480 (GRCm38)	P732Q	probably damaging	Het
Irx4	G	T	13: 73,268,426 (GRCm38)	A314S	probably benign	Het
Itgb8	A	T	12: 119,180,977 (GRCm38)	L332*	probably null	Het
Kctd19	A	G	8: 105,385,328 (GRCm38)		probably null	Het
Kif14	G	A	1: 136,515,959 (GRCm38)	S1290N	probably benign	Het
Klk1b3	C	T	7: 44,201,464 (GRCm38)	T140I	probably benign	Het
Lama1	A	G	17: 67,774,482 (GRCm38)	N1305D	probably benign	Het
Lrp1	A	T	10: 127,574,332 (GRCm38)	V1515E	probably damaging	Het
Man2b1	A	G	8: 85,086,811 (GRCm38)		probably null	Het
Mocos	A	G	18: 24,699,931 (GRCm38)	T818A	probably benign	Het
Mpc2	G	T	1: 165,479,512 (GRCm38)	W94L	probably benign	Het
Mrc1	G	A	2: 14,238,485 (GRCm38)	V141I	probably benign	Het
Nalcn	T	C	14: 123,460,251 (GRCm38)	T538A	probably benign	Het
Ndufs3	G	A	2: 90,902,400 (GRCm38)	T114M	probably damaging	Het
Noct	T	C	3: 51,250,200 (GRCm38)	C320R	probably damaging	Het
Olfr1472	T	A	19: 13,453,821 (GRCm38)	Q232L	probably benign	Het
Pcdha11	G	T	18: 37,005,791 (GRCm38)	A158S	probably damaging	Het
Pcdhga8	T	A	18: 37,727,056 (GRCm38)	D388E	probably benign	Het
Peg3	T	C	7: 6,709,070 (GRCm38)	E1051G	possibly damaging	Het
Phlda2	T	A	7: 143,502,181 (GRCm38)	I104F	probably damaging	Het
Polr2a	A	G	11: 69,735,513 (GRCm38)	S1604P	possibly damaging	Het
Pomt2	C	T	12: 87,139,643 (GRCm38)		probably null	Het
Ppp6r2	G	A	15: 89,253,255 (GRCm38)		probably null	Het
Prr5	C	A	15: 84,702,777 (GRCm38)	R243S	probably damaging	Het
Ptgdr2	T	C	19: 10,940,869 (GRCm38)	I250T	probably benign	Het
Rad54l2	A	T	9: 106,713,540 (GRCm38)	C462*	probably null	Het
Sec16a	T	A	2: 26,439,957 (GRCm38)	E682V	probably damaging	Het
Serpina3i	A	G	12: 104,266,466 (GRCm38)	D210G	probably damaging	Het
Slain2	T	A	5: 72,957,405 (GRCm38)	D326E	probably benign	Het
Sned1	A	G	1: 93,281,652 (GRCm38)	E829G	probably damaging	Het
Steap4	G	A	5: 7,976,995 (GRCm38)	W319*	probably null	Het
Taar8c	A	G	10: 24,101,803 (GRCm38)	V37A	probably benign	Het
Tdrd12	T	A	7: 35,485,229 (GRCm38)	Y753F	probably damaging	Het
Tnxb	A	G	17: 34,718,248 (GRCm38)	S3770G	probably damaging	Het
Trrap	A	G	5: 144,771,650 (GRCm38)	N48S	possibly damaging	Het
Zfp558	C	A	9: 18,456,923 (GRCm38)	G190*	probably null	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
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
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'- TGTTGATATGCTCAGAGGCAG -3'
(R):5'- TGTCTATGTACCAAGCACAGAG -3'

Sequencing Primer
(F):5'- TTGATATGCTCAGAGGCAGACTTAAG -3'
(R):5'- CGCAGATGATGTGTATATCATGGAC -3'

Posted On

2018-06-22