Mutagenetix > Incidental Mutations

Incidental Mutation 'R5181:Prdm2'

397539

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

042761-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5181 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143107391-143212995 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143134966 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 585 (S585P)

Ref Sequence

ENSEMBL: ENSMUSP00000101404 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105778
AA Change: S585P

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: S585P

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

0.3059

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (54/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,714,937	D642E	probably benign	Het
Anxa2	T	C	9: 69,476,065	V54A	probably benign	Het
Ccnb1	C	G	13: 100,781,775	Q121H	possibly damaging	Het
Cdca2	A	G	14: 67,680,165	S595P	probably damaging	Het
Cenpe	G	A	3: 135,242,303	E1208K	probably damaging	Het
Cfh	T	C	1: 140,147,646		probably benign	Het
Colq	T	A	14: 31,557,842	H9L	probably benign	Het
Coq8b	T	C	7: 27,252,322	I403T	possibly damaging	Het
Dcdc2a	C	A	13: 25,202,364	T407K	possibly damaging	Het
Fam198b	A	T	3: 79,886,311	S29C	probably benign	Het
Fam49b	T	A	15: 63,938,677	M234L	probably damaging	Het
Grhl3	T	A	4: 135,559,104	K89*	probably null	Het
Inpp5f	A	G	7: 128,679,831	T519A	probably damaging	Het
Isl2	G	T	9: 55,542,277	R79L	probably benign	Het
Kif9	T	A	9: 110,521,268	D742E	probably damaging	Het
Lgi2	T	A	5: 52,554,450	K176M	probably damaging	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Lrch4	A	G	5: 137,629,403	D66G	probably damaging	Het
Milr1	G	A	11: 106,754,980	G116D	probably damaging	Het
Myof	T	C	19: 37,932,623	D1397G	possibly damaging	Het
Neurod2	T	C	11: 98,327,378	H320R	probably benign	Het
Nox3	A	T	17: 3,635,286	Y562*	probably null	Het
Nrap	G	A	19: 56,345,528	H884Y	possibly damaging	Het
Pde3a	T	C	6: 141,481,255		probably null	Het
Pgm2l1	G	A	7: 100,261,758	C303Y	probably benign	Het
Phip	A	G	9: 82,871,190		probably benign	Het
Plxna4	A	G	6: 32,516,997	I228T	probably damaging	Het
Prpf6	T	C	2: 181,649,546	I718T	probably damaging	Het
Rpp40	T	C	13: 35,896,712		probably null	Het
Skiv2l	T	C	17: 34,844,826	D547G	probably benign	Het
Slc22a22	T	A	15: 57,255,123	Y264F	probably benign	Het
Slc5a4b	A	T	10: 76,060,387	L578*	probably null	Het
Sptan1	A	T	2: 29,993,724		probably benign	Het
St5	T	C	7: 109,556,790	Y251C	probably benign	Het
Sult2a4	T	G	7: 13,988,391	I50L	probably benign	Het
Taar6	T	C	10: 23,984,785	T288A	possibly damaging	Het
Tmem71	C	T	15: 66,555,214	S44N	probably benign	Het
Tmem98	T	C	11: 80,819,932	V139A	probably damaging	Het
Triobp	T	C	15: 78,967,754	Y703H	probably benign	Het
Ttc25	G	A	11: 100,549,893	D67N	probably damaging	Het
Ttc34	A	G	4: 154,862,246	T868A	probably benign	Het
Ttn	C	T	2: 76,834,881		probably benign	Het
Vipas39	A	T	12: 87,239,827	W470R	probably damaging	Het
Vmn2r102	T	C	17: 19,676,741	Y117H	probably benign	Het
Vmn2r111	T	C	17: 22,571,020	N335S	possibly damaging	Het
Vmn2r70	A	G	7: 85,559,179	Y697H	probably damaging	Het
Wnk4	C	A	11: 101,265,377	R461S	probably damaging	Het
Xylb	T	A	9: 119,364,501	L87Q	probably damaging	Het
Zcchc9	T	A	13: 91,797,162	K101*	probably null	Het
Zfp503	C	A	14: 21,985,637	A404S	probably benign	Het
Zhx1	C	G	15: 58,054,074	G259R	probably damaging	Het

Other mutations in Prdm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Prdm2	APN	4	143133759	missense	probably damaging	0.99
IGL00843:Prdm2	APN	4	143134314	missense	probably damaging	1.00
IGL01419:Prdm2	APN	4	143133648	missense	probably damaging	0.99
IGL01662:Prdm2	APN	4	143133568	missense	possibly damaging	0.73
IGL01892:Prdm2	APN	4	143134404	missense	probably damaging	1.00
IGL02104:Prdm2	APN	4	143133427	missense	probably benign	0.01
IGL02208:Prdm2	APN	4	143135743	missense	probably benign	0.01
IGL02260:Prdm2	APN	4	143134587	missense	probably damaging	1.00
IGL02479:Prdm2	APN	4	143134929	missense	probably damaging	1.00
IGL02943:Prdm2	APN	4	143131972	missense	probably benign
IGL02972:Prdm2	APN	4	143132166	missense	probably benign
IGL03038:Prdm2	APN	4	143134001	missense	probably damaging	1.00
IGL03399:Prdm2	APN	4	143135088	missense	probably benign	0.07
PIT4677001:Prdm2	UTSW	4	143135078	missense	probably damaging	1.00
R0088:Prdm2	UTSW	4	143134954	missense	possibly damaging	0.86
R0153:Prdm2	UTSW	4	143133768	missense	possibly damaging	0.93
R0320:Prdm2	UTSW	4	143179351	missense	probably damaging	1.00
R0384:Prdm2	UTSW	4	143135688	missense	probably benign	0.01
R0400:Prdm2	UTSW	4	143111670	missense	probably benign
R0658:Prdm2	UTSW	4	143135265	missense	probably damaging	1.00
R0850:Prdm2	UTSW	4	143132203	missense	possibly damaging	0.53
R1118:Prdm2	UTSW	4	143132383	missense	possibly damaging	0.52
R1355:Prdm2	UTSW	4	143131963	missense	probably benign	0.33
R1519:Prdm2	UTSW	4	143135583	missense	probably damaging	1.00
R1936:Prdm2	UTSW	4	143134462	missense	probably benign	0.00
R1987:Prdm2	UTSW	4	143132509	missense	possibly damaging	0.73
R2006:Prdm2	UTSW	4	143131877	missense	possibly damaging	0.73
R2008:Prdm2	UTSW	4	143134947	missense	probably damaging	1.00
R2030:Prdm2	UTSW	4	143132764	missense	possibly damaging	0.53
R2112:Prdm2	UTSW	4	143131936	missense	probably benign
R2221:Prdm2	UTSW	4	143134899	missense	possibly damaging	0.58
R2223:Prdm2	UTSW	4	143134899	missense	possibly damaging	0.58
R2426:Prdm2	UTSW	4	143111750	nonsense	probably null
R2430:Prdm2	UTSW	4	143133163	missense	possibly damaging	0.73
R2484:Prdm2	UTSW	4	143135206	missense	probably damaging	1.00
R3735:Prdm2	UTSW	4	143134359	missense	probably damaging	1.00
R3944:Prdm2	UTSW	4	143131815	missense	possibly damaging	0.53
R4209:Prdm2	UTSW	4	143134437	missense	probably damaging	1.00
R4411:Prdm2	UTSW	4	143133670	missense	probably benign	0.18
R4647:Prdm2	UTSW	4	143132955	missense	possibly damaging	0.85
R4898:Prdm2	UTSW	4	143134191	missense	probably damaging	1.00
R5032:Prdm2	UTSW	4	143179367	nonsense	probably null
R5513:Prdm2	UTSW	4	143135893	small deletion	probably benign
R5539:Prdm2	UTSW	4	143132694	missense	possibly damaging	0.53
R5563:Prdm2	UTSW	4	143134630	missense	probably benign	0.09
R5618:Prdm2	UTSW	4	143133537	missense	probably benign	0.00
R5900:Prdm2	UTSW	4	143134720	missense	probably damaging	1.00
R5990:Prdm2	UTSW	4	143170113	missense	probably damaging	1.00
R6148:Prdm2	UTSW	4	143132907	missense	probably benign	0.33
R6166:Prdm2	UTSW	4	143134736	missense	probably damaging	0.99
R6223:Prdm2	UTSW	4	143142207	missense	probably benign	0.41
R6530:Prdm2	UTSW	4	143134047	missense	probably benign	0.05
R6631:Prdm2	UTSW	4	143134884	missense	probably benign	0.05
R6725:Prdm2	UTSW	4	143132901	missense	possibly damaging	0.96
R6847:Prdm2	UTSW	4	143132950	missense	probably benign	0.18
R7193:Prdm2	UTSW	4	143180894	missense	probably damaging	1.00
R7238:Prdm2	UTSW	4	143135821	missense	probably benign	0.35
R7292:Prdm2	UTSW	4	143132901	missense	possibly damaging	0.96
R7417:Prdm2	UTSW	4	143179299	missense	probably damaging	1.00
R7748:Prdm2	UTSW	4	143135889	missense	possibly damaging	0.89
R7885:Prdm2	UTSW	4	143134570	missense	probably benign	0.41
R7968:Prdm2	UTSW	4	143134570	missense	probably benign	0.41
X0017:Prdm2	UTSW	4	143134707	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGCTCAGAGGCAGACTTAAGG -3'
(R):5'- CCCTCCCAGAATGTCTATGTAC -3'

Sequencing Primer
(F):5'- GCCGTGGAATCAGAATCTGTCTC -3'
(R):5'- TGTCTATGTACCAAGCACAGAG -3'

Posted On

2016-07-06