Mutagenetix > Incidental Mutation

Incidental Mutation 'R6530:Prdm2'

522257

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

044656-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6530 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142833961-142939560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 142860617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 891 (V891G)

Ref Sequence

ENSEMBL: ENSMUSP00000101404 (fasta)

Gene Model

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

AlphaFold

A2A7B5

Predicted Effect

probably benign
Transcript: ENSMUST00000105778
AA Change: V891G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101404
Gene: ENSMUSG00000057637
AA Change: V891G

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (36/36)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,746,039 (GRCm39)	L74P	possibly damaging	Het
Adamtsl4	T	C	3: 95,588,364 (GRCm39)	T575A	probably benign	Het
Adck5	T	G	15: 76,478,047 (GRCm39)	D224E	probably benign	Het
Asic4	A	G	1: 75,448,979 (GRCm39)	N376S	probably damaging	Het
Atl3	T	A	19: 7,499,499 (GRCm39)	D254E	probably benign	Het
Cacnb2	G	T	2: 14,979,978 (GRCm39)	A274S	probably damaging	Het
Car2	T	C	3: 14,961,791 (GRCm39)	V159A	probably benign	Het
Ccdc138	G	C	10: 58,380,790 (GRCm39)	G474R	probably damaging	Het
Coq7	T	C	7: 118,124,558 (GRCm39)	T203A	probably benign	Het
Dnah12	T	C	14: 26,456,865 (GRCm39)	I877T	probably damaging	Het
Dnah7a	C	T	1: 53,542,856 (GRCm39)	R2438H	probably benign	Het
Efhc1	T	A	1: 21,031,366 (GRCm39)		probably null	Het
Fbn1	G	A	2: 125,231,190 (GRCm39)	R459C	probably damaging	Het
Fer1l4	A	G	2: 155,889,785 (GRCm39)		probably null	Het
Gm5114	G	A	7: 39,057,514 (GRCm39)	P702S	probably damaging	Het
Inpp5f	T	A	7: 128,265,802 (GRCm39)	Y182*	probably null	Het
Irf6	C	T	1: 192,839,657 (GRCm39)	T44M	probably damaging	Het
Loxhd1	A	G	18: 77,499,847 (GRCm39)	N87S	probably benign	Het
Mtrf1	A	T	14: 79,640,331 (GRCm39)	Q162L	possibly damaging	Het
Myoz3	G	T	18: 60,712,592 (GRCm39)		probably null	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Nkd2	C	T	13: 73,970,809 (GRCm39)	G258R	probably null	Het
Or8k27	A	C	2: 86,275,826 (GRCm39)	S167A	probably benign	Het
Parg	T	C	14: 31,931,156 (GRCm39)	S176P	probably damaging	Het
Rasl10a	T	A	11: 5,008,367 (GRCm39)	I21N	probably damaging	Het
Reg4	T	C	3: 98,132,148 (GRCm39)	V20A	probably benign	Het
Shprh	T	A	10: 11,070,011 (GRCm39)	S1462R	probably benign	Het
Spmip1	G	A	6: 29,471,950 (GRCm39)		probably null	Het
Sult1e1	T	C	5: 87,724,147 (GRCm39)	E270G	probably benign	Het
Trpm7	A	C	2: 126,654,631 (GRCm39)	F1436V	probably damaging	Het
Ttc33	A	G	15: 5,241,603 (GRCm39)		probably null	Het
Ucp2	A	T	7: 100,147,430 (GRCm39)	E161D	probably benign	Het
Vmn2r79	T	C	7: 86,651,252 (GRCm39)	F217S	possibly damaging	Het
Wdr93	G	A	7: 79,405,741 (GRCm39)	A207T	probably damaging	Het
Zbed6	A	G	1: 133,586,939 (GRCm39)	S133P	probably damaging	Het
Zfp949	T	C	9: 88,449,340 (GRCm39)		probably null	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
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
R7292:Prdm2	UTSW	4	142,859,471 (GRCm39)	missense	possibly damaging	0.96
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'- AAGGCTCTGTGGGGATCAAG -3'
(R):5'- ATCCAGCGGTGTCAAACAG -3'

Sequencing Primer
(F):5'- CTCTGTGGGGATCAAGAGAGG -3'
(R):5'- CCAGCGGTGTCAAACAGAAGTC -3'

Posted On

2018-06-06